It's been a busy few days! Cole fought the flu all weekend and didn't alot of sleeping and crying:( But is feeling better now. He was up most of Saturday night I guess he wanted to spend some "quality time" with us before we left Sunday morning. I hated leaving him, I may have cried a little bit.
We left VT at 5:30ish and arrove in PA just before 11. I drove the whole way:) The area we are in is beautiful. The houses are to die for. Down town has cobblestone streets and Chris already knows his way around without GPS.
Cole spent all day yesteday hanging out with Syd. Who sent us much needed pictures of Cole to get us through our day!!! Looks like he had a blast!
Our first day at the Institutes was yesterday. Our day started at 9:30am and ended around 8:30 pm. It was so interesting though. We learned so much! We were lectured all day by Glenn, Janet and Douglas Doman. All of whom are extremely knowledgeable. I so badly want to run up to Glenn and give him the biggest hug and just say THANK YOU! Thank you for your commitment and your dedication to our children andour families!!!!
Here are some interesting facts we learned yesterday!!!!
70%-80% of people are brain injured. Think I am lying???? I wear glasses......I am slightly brain injured!
We have around 1 trillion brain cells.
Julius Caeser, Aexander the Great, Napolean and Wellington were all brain injured and suffered from seizures.
A thimble full of alcohol is all that is needed to start killing brain cells.
After age 35 you lose 100,000 brain cells per day.
Well we have to get ready to start our second day!!!
We are finally home!!! We actually got home at around 3 am on Saturday. We were so excited to go pick Cole up we only get a few hours of sleep! He actually got another tooth in the time we were gone. That brings the count up to 4!!! He looks like he has grown up so much even though we were only gone a week.
Since we got home we have been on a mission. We are making an inclined floor, a patterning table and painting his play area walls white and black checks with a black and white striped floor. We purchased our air horn, and flash lights, we got our construction paper to make flash cards we are in the zone!!!
We learned so much at the What to do about your Brain Injured Child course at The Institutes for the Achievement of Human Potential www.iahp.org
. We strongly recommend that any parent with a brain injured child seriously consider attending the course. The information that you get is invaluable.
We were well aware that Cole was delayed in his development before last week. But no one had ever given us a way of telling just how far behind he was. The developmental profile presented to us at the Institutes allows us to evaluate Cole and not only figure out exactly where he is in his development but also tells us what we need to do in order to stimulate him to get him to the next level.
We learned that Cole is severely brain injured on the brink of being profoundly brain injured. We now have a starting point. We also have the tools to do something about it.
Most importantly we have hope. Its so hard to stay hopeful sometimes. But the Institutes restored our hope for good. We strongly believe that we will be able to make Cole well. That one day he will crawl, creep, walk and run. That he will hear without his hearing aids and see without glasses as well as become seizure free without medication. These are options we didn't know we had before.
We met so many amazing parents that traveled from 16 States, 10 Countries and 4 Continents all with one thing in common. All of us have brain injured children and all of us refused to believe that there was nothing we could do about it. We refused to throw in the towel on our children and decided to prove everyone wrong.
Well theres the quick update. I must get back to building!!
Its been a while since I updated and although there is not much to report on I thought we would write something. Cole is still get over being sick so we haven't really been able to use what we learned when we were away. We are putting together the inclined floor this weekend and hopefully Cole will be feeling better on Monday and we can begin the program.
10/26/09 A NEW BEGINNING!!!!
Today we started our program that we put together at the Institutes! Cole and I are both exhausted. I am so proud of him!!! He ended up hating the things I thought he would like and liking the things I thought he would hate!! Just to give you an idea of what our day was like it went something like this:
8:00 Breakfast and Meds with a bit of air horn
8:30 Inclined floor
8:35 sounding the air horn to work of his startle reflex and sitting in a dark room with a penlight to see if he could find where the light was coming from.
8:45 singing songs while stretching
8:55 inclined floor
9:00 pen light and air horn
11-11:20 have a bubba and brush those teeth! oh theres that air horn again
11:20 inclined floor
11:30 pen light and air horn
11:40 more songs and stretching
11:50 more of that tummy time playing with toys
12:20 inclined floor
12:30 airhorn and pen light
12:40 lunch with stage 3 foods!!! so cute watching Cole chew with his 4 teeth!!!
2:15 inclined floor
2:25 airhorn and penlight
2:35 tummy time and stories
3:00 inclined floor
3:10 airhorn and pen light
3:20 tummy time
4:00 patterning with Grandma and Papa
4:30 patterning with Granmda and Papa
4:40 bath and a bubba
5:00 tummy time
6:00 patterning with Daddy and Grandma Rapini
tummmy time until 7 followed by meds and one very tired little boy!!!
All in all he handled everything really well. He is not used to being on his stomach so much and I am not using to letting him cry so much;) But I know it will all be worth it.
The biggest problems I have right now is that since he prefers on side it looks like someone punched him in the eye because he laid on that said of his face all day lol. Also he drools so much that the drool puddle reaches his forehead and I have to keep wiping it up so he doesn't get spit in his eye lol.
Thankfully I have some amazing Moms that I get to bounce all this off and the always have great advice and encouragement. Its nice to not feel so alone in all this. Plus we have some great friends that cheered us on today too!! We Love you!!!!
Well I am pretty tired myself from all of todays excitement. About to watch a movie and then rest up so we can start over tomorrow!
So it turns out we might have jumped the gun with Cole's schedule. I think it was thursday when I came across the handout from the Institutes titled "Where to Begin." Go figure. So the patterning is not supposed to start until the 2nd month. The first month is supposed to be focused around diet and the oxygen enrichment program. Which we are still working on trying to get a Doctor to follow us on. It is really frustrating!!! Its hard when you think that something would be so good for your child but its beyond your control. We are still looking and exploring our options and hopefully will be able to work it out some how.
Our schedule is pretty much the same we just took out the patterning. I am so amazed at the progress Cole has made in the last week. His strength has improved so much more than I expected. Cole is usually starting his bed time routine when Chris gets home so he hasnt really seen what we've been doing. Plus he was sick this weekend....but Chris just put Cole on his belly on the couch and his jaw nearly hit the floor when he saw Cole push himself up. He started screaming "oh my god look at him go, I cant believe it." I just smiled and said "I know he's a strong boy now. Thats what he's been working on all week!!!" and he responded "Buddy thats just so great I'm so proud of you!" I think thats the general consensus around here!!!
We didn't really get to do much trick or treating because Cole was sick the night before and I didn't really want him out if he was coming down with something. So we just went to mine and Chris' parents houses. Plus Uncle Nicky and Auntie Marianne came up to hangout.
We will be back on schedule tomorrow! On Thursday Jen (Cole's personal care assistant) will start coming over. We are very excited to have someone helping out that loves Cole as much as we love her!! It will be nice to have a few hours to myself to clean house, pay bills and maybe even go grocery shopping!!!!
Oh I forgot to add last week that Cole had his first Dentist appointment!!!! He did such a good job and Barb was so good with him! It put us both at ease. I really thought that Cole's first tooth was rotten because it was so yellow and as much as I brushed it I couldn't get the "crust" off lol. But Barb took the pick to it and it all came right off in one piece revealing a shiny bright white tooth. All the stuff that was built up was from all his medications, just another nasty side effect.
Cole rolled from his belly to his back! I guess all that tummy time is really paying off. We knew it was coming for 2 days before he finally "committed" he would pop his head up and then kick up his right leg eventually he would be teetering on his side but then would flop back on to his belly. Not this time though he flipped right on to his back and got this huge smile on his face. He looked at me like "haha Mom you can't keep me on my belly anymore;)" I have said before how strong his he getting. He holds himself up more and more everyday!!!
He stayed home today with Mel another one of his PCA's. I didn't realize until Mel was almost to the house how unprepared I am to leave him with a sitter. I didn't even have an emergency contact list. About halfway to my appointment I realized the carseat was still in the back and prayed there wasn't an emergency, then it dawned on me the stroller was in the trunk.....jeez Mom.
I finally made it home this afternoon and guess what I found. Cole had a rattle in his hand and he was actually banging it around. Way to go Cole!!!!! Heres a video of some of Cole's progress!!!
Cole's a rolling machine! Two days after the last video was taken he figured out how to roll from his belly to his back! We couldn't be anymore proud of him! He gets so excited everytime he does it, and he looks at me like haha Mom you can't make me do tummy time anymore!! He is getting stronger by the day and is able to hold himself up longer and longer everytime!
As you might remember we were waiting on the results of some bloodwork that was requested by the undiagnosed disease program at NIH. 2 weeks ago we got some results on Cole. One of the tests showed an abnormal gene sequence to be more specific it was a duplication of XP22.31. This is not something that is known to cause a specific syndrome but it has been linked to quite a few that involve different degrees of disability. So they requested that my blood be drawn to see if I was a carrier and if I wasn't they would take Chris' blood to see if he was. Well I found out today that I am the carrier of the gene. So now they want my Dad's blood to see if he is the one that passed it to me. Guess that means no more kids for us:( We will know more in a couple of weeks when we get my Dads results back!
Lets see where should we begin? We are still waiting for the results of my Dad's bloodwork. I think that if my Dad carries it than they will think that this duplication has absolutely nothing to do with what is going on with Cole, because he has nothing wrong with him. It will just be some random thing. If he doesn't carry it they will then test my Mom. The odds that she has it appear to be very slim, since she has 3 brothers all of which also have none of what Cole has. If she does carry it than they might think it is the cause because girls carry things and guys get the symptoms. If neither have the duplication than they will think it started with me and it is responsible. Does that make any sense at all? I know the feeling!!
Then theres the last eeg. Let me just say that every trip is so entertaining for us! We started by thinking we might get in some Christmas shopping the day before our appointment. Cole was a perfect angel the whole 3 hour trip. As soon as we got to the outlets Cole started freaking out and started crying until he broke out in hives and we had to leave. We shopped in one store and left just to get stuck in 2 hours of rush hour traffic. After an hour and a half of screaming he fell asleep and stayed asleep until about midnight. When he decided to turn himself sideways and repeatedly kick me in the kidneys while Chris snored like a freight train. I dealt with this until about 1:30 when I woke Chris up and threatened to smother him with a pillow.
A first occured for Cole the next day when we were riding in the elevator from the 5th floor of the parking lot to ground level. Cole's stroller was fully reclined and all of a sudden he went from lying down to SITTING UP ALL BY HIMSELF..... I just about fell over!!! Luckily his puffy jacket stabalized him otherwise I think he might of bounced off the bars a little lol. But we were so PROUD of him!!
Another first in the elevator was when we got in to ride from the cafeteria to the 12th floor for Cole's eeg. We are standing in the back of the packed elevator the doors closed and all of a sudden we get a whiff of something awful. Chris and I locked eyes and you can tell both of us were thinking something along the lines of "what a** decided to wait until they were inside an elevator to do that. It goes away for a second and then bam it hits us again this time I am really getting mad. Chris sees a woman next to me in a skirt whose face seems a little red and assumes its her. But just to reassure himself he bends down next to the stroller to check Cole. As soon as he sticks his head in the stroller he looks at me panic stricken and thats all it takes for me to realize our son is the one who just demolished the elevator. But oh no it doesnt stop there. You see not every womens bathroom at the hospital is equipped with a changing table and wouldn't you know it the one on the 12th floor just happens to be one of those bathrooms. So we walk until we find a family bathroom and the three of us pile inside. As we get in we realize we left the wipes in the car.
The family bathroom does not have a changing table either so Chris is manning the sink wetting paper towels as I try and change Cole's diaper in the stroller. Cole has a new favorite thing though....now when we change his diaper he tries to well you know help...... so I am yelling to Chris to grab his hands so it doesn't get in the explosion that has occured in his diaper. I didn't think Chris was going to get it in time so I went in too......his hand collided with the paper towel I was using and he started dry heaving at the mess that was now on his hand all the while saying I am going to puke oh my god I can't do this. I can't even write this without cracking up. I fully expected we would walk outside the restroom to find a crowd had gathered.
We went in the eeg room and for the first time the woman didn't have to write on Cole's head to mark where she was going to put the leads. It made it much less traumatizing for Cole. They let me lay on the bed with him and he did really well. It was a tiny room and the heat was literally on 90 because the person before us was cold. The light was dimmed because it is better if the patient is sleeping for the eeg. 10 minutes is I hear Chris snoring in the corner....at first I was like no way it can't be but then it got really loud and there was no way I was imagining it. Mortified I start whispering his name but he wouldn't wake up! Finally the tech comes in and says well since he (Cole) is not sleeping we might as well do the strobe light test. This wakes Chris up and I say no Coles not but his Father clearly has no problem falling asleep. Come on we are on video!
Cole ripped 4 leads off his head during the eeg!! Another thing that most people wouldn't get excited about!!! But we were!!!
We decided that we are going to try the diet to control Coles seizures. We will be admitted for 3 days in the beginning of January. We decided it would be better to try and control his seizures with food rather than giving him injections again or the med that can cause damage to the retina. Since Cole is mostly fed through his bottle now is the best time for us to try this.
So what did the EEG show? Well we were very surprised to find out that this EEG is better than his last one. Although it is still abnormal it does not show hypsarythmia constantly! Although the spasms that we do see still look like hyps....but its better to have a few seconds here and there as opposed to all the time! So hopefully we will be able to get them under control.
We had the Doctors in Michigan look at his PET scan again and they found a diffuse hypometabolic pattern which suggest that whatever is wrong with Cole is caused by either a genetic or metabolic disorder. From what we have gathered when you are an infant there is a certain part of your brain that is responsible for a certain chemical. When you hit a certain age the part of your brain that controls this chemical is supposed to shift. For Cole this shift has not yet happened and is still in the infant stage. What that means is still unclear but it might be another part of the puzzle.
Cole now has the giggles alot!!! Its our new favorite thing...he is sensitive to tickling now on his belly and arm pits as opposed to just his thighs or butt. He laughs when we laugh or if we look at him a certain way. He rolls to follow us and is developing such a personality!!!!!
I guess thats enough for one update! Thank you all for your support!
It was 1 year ago today that Cole first began his ACTH steroid inejections. We were admitted to DHMC so they could monitor Cole and so I could learn to give Cole injections in his thigh. What a way to ring in the new year that was. Needless to say we did not get to watch the ball drop:) This year Cole will be spending New Years Eve with his Grammy and Papa! Chris and I will finally get to go out for New Years Eve! This will be the second time I get the New Years experience, of course I went out the year I was 21, I was pregnant at 22 so we stayed home and played guitar hero all night ( Thanks to Luke and Jed who graciously let us borrow the equipment) and then last year like I said we were at the hospital!!!
Lets see we had a really good Christmas. Cole showed a little more interest this year in the presents, he liked the sound that the wrapping paper made when it tore. Most of his presents from Chris and i are still wrapped under the tree....its not very exciting to pick out the presents, wrap the presents and then open the presents lol we've been making other people open them with Cole when they come over so that someone is surprised. Santa was very good to all of us this year. We got lots of great gifts that will come in very handy like a GPS, Juicer ( I juiced everything in the house!!!!!! Its great because Cole drinks alot more than he eats and now I can know that he is getting good stuff!!!) Sensory balls, lots of toys, blankies and jammies...not to mention a Bruins coat!!! He is very spoiled and deserves it all.
He also met Santa for the very first time! He loved Santa!!! He smiled while getting his picture taken!! It was so cute!!
Cole hasn't been feeling very well the last few weeks. We thought that he might have the stomach bug as we had quite a few explosions. But then he got his very first cold and got dehydrated and had to go to the ER for IV fluids and xrays and all that good stuff. They think it might be a reflux and constipation issue. Since Cole is immobile he doesn't have very strong stomach muscles which makes it hard for him to go to the bathroom. He had been on miralax for that but it wasn't enough. They think the constipation may have created a reflux issue so he is on meds for both right now. We are hoping to get him eating and drinking more very soon.
Thinking back over the last year it all seems VERY surreal. We have been so many places. I have traveled more than I did before I had kids. This country girl can now drive in and out of Boston all by herself:) We've taken Cole on his first plane ride!! We had to leave him for a whole week to go to PA and ended up missing him so bad that we drove through the night to get home and see him. We were accepted into the NIH undiagnsed diseases program! We created a one true media video that reached some amazing parents that were nice enough to contact us and share their stories, thoughts and ideas. We started colescause.com as a way to keep everyone updated on what and how Cole is doing. I will try to update more frequently in 2010! We have shed alot of tears (in private of course) had a lot of laughs and found so much joy in the little things life has to offer. We realized that no matter how hard it is for us there are others that are worse off and in order to help Cole reach his potential we cannot focus on the things that he cannot do but instead must celebrate every single thing that he can.
Cole has come so far! He can roll over from belly to back and back to belly. He can bear weight on his arms and his head control has improved 100%. His vision and hearing both seem to have stabalized! We do not yet have complete seizure control but his EEGs look better than they ever have! He is developing such a little personality!!!He loves to laugh and be tickled. He more recently loves to pull on my earrings and or necklaces, punch me in the face or chest or grab my nose and pull my hair!!! He says Dada and Mama(when he gets really mad!) and he may have even said Abbey:) He has endured more surgeries, and been stuck by more needles than Chris and I combined in our lifetime but he always come through everything with a smile:) He is our inspiration and our little hero!!! We cannot wait to see what 2010 has in store for him!
We would like to thank all of our family, friends, Doctors, Therapists and strangers for their continued support, donations and encouragement they have given us this year.
Thank you to all the girls that put on the Coles Cause Benefit and everyone who attended and or made donations we will never be able to fully express how grateful we were and still are for your kindness!
We'd like to thank David Aquino for taking an interest in Cole and helping us share his story by writing two amazing articles on him!
Finally we'd like to send a special thank you to all the families we have been fortunate enough to meet in person or online. We feel privelged to have been allowed into your lives and blessed to have you now a part of our family. Although we come from different Countries, States and backgrounds the love we have for our children and families with children like ours brought us together. We definitely would not have made it through this year with our sanity if we did not have you all! We cannot wait to see what 2010 not only has in store for Cole but for all kiddos!!!
I know I said I was going to try and be better about keeping this site updated but 2010 has kicked off to a crazy start already. It feels like we have spent most of the year either at the Doctors for Cole or other people. It is finally starting to slow down....knock on wood. We are still monitoring Cole's urine as we wait for our appointment with a Nephrologist AKA a kidney specialist. We also have an appointment with a GI Dr next week to see if Cole just has reflux or if it could be ulcers that are causing him pain.
We had a behavioral hearing test today which was a very huge accomplishment for us. The last time they tried one on Cole he wasn't responsive to the noises or the lights in the booth. Usually when Cole needs his hearing tested he has to have a sedated ABR. Now that he was responsive in the booth we should only have to have the sedated test done if we feel something has drastically changed. Its awesome how the adapted their test to him. For those of you that have never had the pleasure of experiencing one of these tests this is how it works. You go into this little closet like room. I sit in the chair in the middle of the room with Cole in my lap. There are different things on the wall like a picture of a clown whose eyes light up. They stick earplugs with these attachments in his ear which they use to play different sounds and tones. There is a window directly in front of us, on the other side of that window is his audiologist Katelyn. In front of her a computer from which she picks what sounds to play and monitors the nerve reaction. In the little room with us is also one of her co workers who is equipped with headphones that cover only one ear. Katelyn tells her what noises she is playing and when so her co worker knows when to look for a reaction from Cole. So what was Cole's reaction??? Well Cole who was sucking on his pacifier as always (picture Maggie Simpson) would stop sucking all together and roll his eyes to whatever side he heard the noise from!! It was so cute!! I was so glad that they were attentive enough to notice even the suddlest of movements from him and save him from another sedation. Also they had this test where they put this thing )my description..... it was a mini speaker I know there is a more technical term for it but I don't remember.) Anyways they placed that behind his ear on the nerve. Then they played music and noises at different levels. In the beginning right when the music started playing....he perked right up and started wiggling we all thought it was funny and they go look he's dancing!! We all know who gets credit for that one. His Great Aunt Colleen who has been singing to and dancing with him since he was 3 months old. This was not a fluke thing she has taught this little guy to dance! They suggested that we get either a MRI or a CT scan of his ears to see if there is something wrong with the structure of his ears that is causing a problem with how the sound is relayed to the nerve. Since the response when they bypassed the ear canals and stimulated the nerve directly was really good.
We also found out that we are going to NIH no later than March. We have been put on a cancellation list though so if anyone cancels between now and then they will fly us out early! Well Coles up so thats it for now!
So we finally made it to the Nephrologist last Friday. Our day was scheduled to go 8:00 kidney Ultrasound, 9:00 Nephrologist and 10:00 GI Dr. But ended up more like this 8:00 Ultrasound, 9:00-10:30 Nephrologist, 10:45-12:00 GI Dr. 12:00-12:45 X Rays 12:45-1:10 bloodwork and finally home!
Cole was a trooper and actually slept through his ultrasound. Which made it very easy on all parties involved. When we got to the Nephrologist we were told that Coles kidney structure looked good but........oh yes there is always a but. Right now they believe that Cole has 1 of 2 kidneys disorders. This is how I understand it. One of things our kidneys filter is protein which should be filtered to our blood. In Coles case he has protein in his urine and the protein levels in his blood are low. This means the filters that line his kidneys are hyperfiltering. If this is not treated hyperfiltering creates scar tissue in the filters which clogs them and results in renal failure. Both diseases can be treated with medication to slow down the filtering. In one case there is a good chance that the medication could control the filtering forever and theres a slim chance that Cole would ever in fact have renal failure. The other one although it would slow the process it could not slow it enough and Cole will need kidney transplants in 5-10 years. We are waiting on the bloodwork results which hopefully will give us an answer so that they do not have to perform a kidney biopsy.
We were supposed to go to Boston on Feb 8th to start the keto diet to try and control Cole's seizures. But we just learned that because the keto diet can alter proteins and the way your body stores them that may no longer be an option for us.
We also discussed the G tube/ feeding tube with the GI Dr and we are now seriously considering this as an option for Cole. Originally we were very against it because we were told that if Cole didn't gain weight in 6 months he would have to have one because he was so low on the growth charts. But we looked at it as the growth charts are averages of "well" children that are mobile and have muscles that Cole does not have. If we gave him a G tube to gain weight it would just make it harder for him to eventually gain those muscles. The Dr was great and listened to our concerns and said that they were valid and she understood. But this is where it would be an advantage. Cole is unpredictable when it comes to his diet. Somedays he eats like a horse other days he won't even drink a drop and gags on food. On the days when he maybe takes in 8 ounces of formula and nothing else his body isn't getting enough liquids for him to go the bathroom. Which leads to him getting constipated and uncomfortable which makes him even less interested in eating and eventually leads to us in the ER getting IV fluids and enemas like we did the other day. The G tube would allow us to avoid all that because we could make sure he was getting enough fluids on the days he wouldnt drink otherwise. If hes eating good we don't have to use it. We decided if its going to benefit Cole and keep him from being uncomfortable it would be selfish of Chris and I to not allow Cole to get one.
On a happier note Cole has really started to discover his voice and it ispretty hysterical. He has this high pitched scream hes been expirementing with and he will just roll around and scream as loud as he can and laugh. He really cracks himself up!
Life has been crazier than expected! We got the results back from Coles bloodwork but they were not able to tell us which of the kidney diseases Cole has. Next step.....kidney biopsy. Normally it is a pretty simple procedure they go in through your back with a needle and use an ultrasound machine to see the kidneys. But Cole is so little and his kidneys are only about 6cm and his Nephrologist does not feel that would be the safest option for him. I cannot tell you how much I respect him for telling us that and not just going ahead with it. Instead a Urologist will be going in through Coles stomach. She is going to make a incision big enough so that she can see the kidneys with her own eyes and cut a piece off. The surgery was originally supposed to take place yesterday, but after looking at her schedule the surgeon realized that she didn't have enough time for him so it has been changed to the 19th. We will have to stay over but if all goes well we should be released the next day! I am pretty nervous about it because it is definitely his most invasive procedure....but should feel better after I play 20 questions with the Doctor!
On a postive note Cole has mastered rolling over. I caught him in the middle of it the other night when we were at a friends for dinner. Ever since he is a rolling machine. I cannot turn my back on him for a second! We are so proud of him! As soon as I find my camera charger I will upload a video!
Cole had his kidney surgery on Friday and is recovering very well. The surgery itself lasted about 3 hours which was very nerve racking. Chris and I tried to keep our minds occupied as best we could. We had 3 big balloons waiting for him when he awoke! He was pretty sore and needed morphin most of the time we were admitted, we had one little scare thankfully it was only a scare. They made a incision about 2 inches long under his left rib cage. We had expected it to be about 4 inches so that was a nice surprise. His Uncle Nicky is already thinking up stories he can tell kids in school when they ask how he got the scar. Last I know he fought off a tiger!!
Cole had lots of visitors and got lots of presents from family and his good Buddy Reilly and his parents. We were very relieved that our favorite Nurse was offered overtime and took it so she could be there for Cole. It took alot of the stress off from both Chris and I knowing that he was in wonderful hands!!
We won't have the results of the biopsy until sometime next week. Heres a few pics from Coles surgery!!
NIH program called today and have scheduled our trip for the week of 4/18! We are so excited. If you watch Disease Detectives on 2/28 at 8pm on Discovery Health you will see where we are going. You will see the Doctors that we will be meeting with and get an idea of why this is such a big deal!!!
What a very long day we had! First appointment was at 9:30 and from then until 2:00 we were either in a Doctors office or getting labs drawn. So far the Mitochondrial testing has not shown anything out of the ordinary. They took more blood and urine to run more tests. They set us up for a skin biopsy. It was up to us whether we wanted to go ahead with it now or wait. Reason being is the test they use the skin biopsy for are diseases without cures so whether the tests came back negative or positive it wouldnt make a difference. I said we wanted it done because if one of those tests did come back positive it would save Cole from having to go through a bunch on unnecessary testing. She made the mistake of telling me the names of the diseases and then telling me not to google them. I google everything. One we have heard of before both are terrible.....but we have learned not to freak out until you know for sure. Although it is always lingering in the back of your head!
We got the kidney results and they believe that Cole has the most common kidney disease for a child his age. Basically those filters we talked about before well they should be seperate from eachother. Coles are all connected so he is one big filter instead of a bunch of little filters....therefore there isnt much filtering going on. Luckily it is treatable with medication although most kids relapse and will need several treatments. Some kids outgrow it by age 18. The meds are heavy duty and severely compromise his immune system to the point where the slightest cold will land him in the hospital. So they have told us while he is being treated to keep him out of daycare and away from other kiddos that are in daycare or in school..... so much for a birthday party. With this disease kids are more likely to get blood clots so we have to watch for that as well. We start the meds tomorrow and will be testing his urine every morning (thankfully we can do that at home and do not have to run the lab every morning) and we should find out within a month if this treatment works for Cole. If it doesnt the Doctor said we will discuss our other options if and when the time comes.
We decided to go ahead with the G tube. We met with a Nurse that had little Teddy Bears and Dolls with pegs in them so that we could get an idea of what we were in for. Cole lost 3lbs since his surgery which drop him into the 1st percentile for kids his age. As much as we hate the thought of another surgery it is in Coles best interest and would be selfish of us not to get it for him. We plan to give him as much orally as we can and only use the tube for meds and when he doesnt get enough calories during the day.
Well life has been pretty crazy which I am sure you can tell due to the lack of journal entries. Cole is finally fully recovered and back to himself after his surgery. They thought that he had the most common kidney disease in children based on his biopsy results. Basically instead of alot of little individually filters Coles are all connected so he has one big filter which doesn't do much filtering at all. They said that he is a little A typical because he is not swollen and they would expect to see lots of swelling in his ankles or since he is immobile in his butt. They put him on a high dose of steroids and we test his pee every morning with these little sticks. So far we have not seen a difference so they want us to go back and run more labs because it might be a different disease if the meds are not working.
The steroids weaken his immune system and that has been hard for us. Cole was sick on his birthday and on Easter. It would be great if he could feel good on at least one holiday. They also found that Cole has a zinc deficiency, so we have to start giving him zinc supplements. In our research we found that among other things a zinc deficiency can cause appetite loss. So we have decided to postpone the G tube surgery until we see what happens once he starts his supplements. Speaking of appetite he is going to be having another swallow study. He coughs alot when he is eating and his Speech therapist wants to make sure that the food isn't pooling in the back of his throat as a result of his latest growth spurt.
We head to Maryland on 4/18. We are really excited for our trip. Lots of people seem to think that they might have answers for us. How nerve racking is that? This is the biggest trip of our lives. Its like make it or break it. If they can't figure it out there than the odds are we will never know. That doesn't mean we won't stop looking though.
Oh yeah and we finally moved into are new house....well mostly moved in. We still have lots of painting and unpacking to do but it feels great!!!! Cole loves his new home!!!!
So what have we accomplished in the last few months??? Well Cole continues to get stronger as he tries to sit up. He still cannot sit by himself but if he is in his stroller or on your lap he can pull himself into the sitting position. He has started the terrible twos...I was warned by a wise Mother that he would start them in his own way and boy was she right. He seems to feel the need to try and help me change his diapers......and as I squeal he laughs. He makes himself giggle all the time, and he gets so excited that he can't stand it and kind of grunts trying to contain himself. He has been jabbering up a storm...Momma comes much more frequently. He is also saying Abbey and Emily and pronouncing them much better Abbey went from Abbbaaaaa to AbbEEEEEE. Emily went from Emee to EmYEE. Of couse he doesn't yet associate them with his Aunts but he is definitely copying the sounds.
Oh yeah and last time I had said that he didn't have to go back to the eye Doctor for a whole year. Well they changed their minds. I think his Dr might have found something based on the abnormal gene duplication info that we gave him, but doesn't want to worry us. Which is fine. So he is going back under for an exam under anesthia and possible surgery on 5/12.
Cole FINALLY had his 2nd Birthday Bash over the weekend. It was so good to see family and friends that we don't see often enough. His Great Grandparents, Great Aunts and Cousins were able to come down for the day. It was great to see them. He got to meet his little cousin Landon for the first time and see Taylor again!!! His little friends Reilly, Carmine and Leland also came to the party!!! He got lots of presents a whole new summer wardrobe and great toys to help in his development! Taylor and Reilly were big helpers when it came time to open presents!!!
This week he has been resting alot gearing up for our big trip on Sunday! I can't believe that the time has finally come! We leave for NIH on Sunday!!! keep your fingers crossed that we get some answers!
5/4/2010 & 5/19/2010
Here is an update that is long overdue! So I am sure that some of you are wondering how our week at NIH went. All in all it was a great trip but clinically they were not able to diagnose Cole with anything. That didn't come as a huge surprise to us. We are currenly awaiting the results of the numerous tests that took place during our week long stay.
Of course seeings how its us the trip was quite comical. Travelling with a backpack, 2 suitcases, a stroller and a toddler carseat was a challange in and of itself. We somehow managed to get everything and everyone where we needed to be. The flight started off great. Coles sat in his carseat and had the window seat. He squealed with delight at take off, it must be something about the pressure that just cracks him up. Landing was a different story. One girl got sick and had to be locked in the bathroom while the flight attendants yelled "Brace yourself Hunny." The women across the aisle from Chris threw up in her mouth swallowed it and then threw up in a garbage back. It was so gross.
We were met by our driver at the airport who took us the 45 minute drive to NIH. We were surprised at how similar Maryland looks to Vermont its just as green but with alot less pine trees!
When we arrived at NIH we were stopped at the security gate we all had to get out of the van present our IDs and walk through a metal detector as dogs sniffed out luggage and bomb detecting devices were run all through the van. After we had our passes we were allowed to enter the campus.
The Inn that we stayed at was very nice. It was very kid friendly. You can take the virtual tour at www.childrensinn.org.
Our day started bright and early Monday. We walked across the street to the main medical building where we registered and all had our pictures taken. Then we were off to our room where we met with the head Nurse following our case and were given our schedule for the week. Which changed daily based on what new information they had gained the previous day. Although we were not admitted to the hospital our entire stay we did have one room that was assigned to us for the week. We were fortunate enough to get awesome roommates!!! We knew they were good people as soon as we saw Connor and his Daddy Marc were wearing Red Sox hats! We wish the best to Jen, Marc and Connor, it was so nice to have met you and we look forward to staying in touch!!
Cole underwent the following tests during his stay: bloodwork, 24hr urine analysis, sedated mri, spinal tap, rectal exam, eye exam, hearing test, dentist appt, pt, ot, neurology appointment, GI appointment, genetics, Nephrology appointment, X Rays from head to toe on all 4 sides as well as regular photos of the same, skin biopsy. I am sure there are other things that I am missing. When we left we did not leave with any answers. They were not clinically able to diagnose Cole with anything, but we are still waiting on alot of the genetic testing to come back. They took blood from Chris and I as well and they are going to put our DNA side by side to see what pulled from me and what pulled from Chris to make up Coles DNA. If they see something that looks abnormal they will zone in on that area. This testing could take 6-8 months.
We did learn that Cole has osteopenia, which is not uncommon for a child that is immobile. The way I understand it is that you have normal bones, osteopenia and osteporosis. Coles bones are weaker than normal bones because he does not bear much weight on them. ThePT suggested that we get Cole leg braces that will support his lower leg before putting him in a stander so that his bones do not fracture.
All in all it was a worth while trip although it was not totally what we had expected. We had thought that they would run every test possible and look at other organs or tests to see if they could find new symptoms. But it wasn't really like that at all. One good thing is that Cole was at the 6 month level in all areas, even in the amount of teeth he has. To us that is better than having him 6 months here, 9 months here and 3 months in another area.
Cole had another checkup on his kidneys to see if the prednisolone was working in slowing down the function. Unfortunately it is not. Which means no other steroid will really work for him. They said it is difficult with Cole because although he has one kidney disease it is likely that it is due to an underlying condition and so his symptoms and treatment are atypical. The protein level in your urine is supposed to be .2 before Cole was given any treatment his protein level was 16.3. Upon starting Enalapril which is a blood pressure medication whose side effects can include slowing down kidney function his level has dropped to 9.7. His Doctor would like to at least get us down to 5. So they are going to up the Enalapril to see if that will help. Unfortunately for us Coles blood pressure is normal and so there is only so much you can up the dosage without lowering his blood pressure too much. He said that he has seen people with these levels not need transplants for 10-20 years. But that they also had a little girl who had kidney problems due to an underlying condition that needed new kidneys at the age of 5 and after transplant is doing great.
We went back in for a sedated eye exam with possible surgery and for the first time ever Cole did not need surgery! His surgeon told us again he couldn't believe how good Coles eyes looked for Cole and that when he first met us he didn't know if he would be able to do anything for us. He said that they were going to be writing about Cole and putting him in the medical books because it is not often you come across something so rare and that if another Doctor ever sees this they need to know what treatments were used on Cole. One of the Nurses in the Post Op told me that there was alot of cheering going on in the operating room when they saw Coles eyes.
On 6/17 Cole will be getting glasses! I can't wait to pick them out for him. He had been kind of tipping his head back and almost closing his eyes alot. We were told that is his squinting! I am interested to see how well he tolerates them!!!
Well I think thats it for now.
Cole met with his GI Doctor today who again tried to get us to think more about G Tube placement. We stuck by our decision to wait until we know for sure that there is not anything underlying that is preventing Cole from gaining weight since we know he takes in more than the needed calories for him to do so.
His kidney appointment did not go well. They had increased the Enalapril after his last appointmnet. That was the med that was able to lower his protein level in his urine to 9.7 which was the best it had ever been. We were hoping to see an improvement since he was now taking double the amount. But wouldn't you know it some kids essentially become immune to it.... Coles level was 20 that is the highest that it has ever been. The normal level a person is supposed to have is .2 . They said that at this rate it will be between 2-3 years before his kidneys are damaged and he needs new ones. That is assuming the protein level doesn't get any higher. They cannot up his Enalapril any higher because he has reached the max level (actually higher than) for his age. They are adding another med to the mix and we will do more labs in a week to see if that is helping.
Dr. Fialiano is ordering an eeg for us since Boston was going to take over a month and a half to get us in. A week after the EEG Cole is going to be admitted to Dartmouth for 3 days. He is going to be given a very high dose of steroids through an IV for 3 days. Then be sent home to receive the same dosage orally. This will tell us if steroids are in anyway helpfully in treating both his seizures and his kidneys.
Another round of blood and urine labs were issued. We didnt have enough to go around today so we are headed back up bright and early in the morning for more. If this set yeilds no results we are headed to specialists in Atlanta, GA for a muscle biospy and additional testing.
Home sweet home after 3 days at inpatient. We were scheduled to be admitted Monday the 12th for Cole to begin his dose steroid treatment IV. He had an EEG last week and looking at it I was kind of bummed because I didn't feel as though it adequately reflected the activity. Not to mention Cole didnt have a "big one" while he was hooked up. Not that you ever want your kid to have a seizure but if they are going to do it that is the time. I called Chris right after and told him I thought it looked pretty good.
That afternoon Dr. Filiano called and told me that it wasn't good after all. It looked different to me because Cole had outgrown Infantile Spasms, I thought that would be a good thing. Unfortunately he had grown into another seizure disorder called encephalopathy epilepsy. Which from my understanding basically means that it is doing damage to the brain which is to be expected and it is also harder to treat. He thought that the 12th was to long to wait for his liking but we figured that was the soonest they had an open bed.
On Wednesday Coles seizures got worse than we have ever seen. They were lasting longer...they looked much stronger and he was actually making this whining noise in the middle of them almost like is was painful. After the 3rd time that happened I called to see if we could be admitted early and within an hour we were packed and on our way.
Ill spare you the painful waiting stories and just give you the facts:) Cole received prednisone dosages 10 times higher than the normal dosage via IV every 20 hours for 3 days. Being that the doasge is so high you have to have this done at the hospital so that they can monitor your blood pressure. We are hoping that this is an effective method of treating both his kidneys and his seizures as the new kidney medications are not working.
He had an eeg on Thursday morning and the EEG looked alot more like I ha expected. The EEG tech could not believe it, he told us if this was an EEG he had seen when he first started he probably would've run out the door. He said when people come into the ER and are having seizures this is the last thing that you want to see. He described it like this...if you were to hook someone up to an EEG when they were having a grand mal seizure you would see what Cole's EEG was showing except that Coles EEG looked like he was having a permanent Grand Mal seizure with multiple discharges every single second. On the positive side of this I look at all the amazing accomplishments Cole has made and how happy and responsive he is even with all these interuptions. If we could even cut this in half just think of all the amazing things he could do. We also learned that Cole's brain is inflamed, but are not sure why. Also his brain activity is worse when he is awake rather than sleeping which is opposite the norm...go figure:)
Friday morning Cole had another EEG and it was actually better than the one from Thursday so we are hoping that next week it will look much better and that the steroids will continue working.
As for the kidneys...well like I said the other meds we had been trying did not help. We will not know if this treatment is effective on them until Friday. Fingers crossed! If this does not work we have 3 more med options. They each only have a 20%-40% chance of being effective for Cole and these are those meds I have mentioned with the nasty side effects. One of our Nephro does not want to us because Neurological damage is a side effect so that leaves the other 2. One we would be forced to get a G Tube because Cole would have to take in a ridiculous amount of fluids to keep his bladder from swelling and bleeding. The other is a drug also used for Chemo that could cause Cole to lose his hair and ironically could cause kidney failure. Great options right. If nothing works we are looking at a transplant in 2 years or so. We discussed that and the options associated with it too.
So yeah that is the latest and the greatest on our end. We are finally home and are continuing high doses of steroids orally.
The last few weeks have been crazy since we got out of the hospital. Cole and I both got the flu and due to Coles compromised immue system from the steroids it took him 2 weeks to get rid of the virus. The prednisolone has made him VERY cranky and most of the time he has held me hostage on the couch all day.
His seizure activity has improved a little which we can tell by the progress that he has made. He pushes himself up on his elbows to check everything out, hes been up on his knees a few times and he is now barrel rolling across the living room. I can't turn my back on him for a second!!!
So far we have not seen improvement in his kidney fuction. We were able to get his level to a 16 from a 24 but 16 is where Cole was at the beginning so we are just back to baseline. We have an appointment in 2 weeks to discuss our next plan of action.
Well the prednisolone did not work on his kidneys or his seizures like we had hoped. His current protein level in his urine is at a 28. So now we are actually going to use motrin 3 times a day for 2 weeks to see if that helps. If you picture a circle with 3 tubes connected to it. One on the right one on the left and one on the bottom. The circle is the filter and the tube on the left brings the blood into the filter the waste from the blood falls down into the bottom tube and is passed through the urine while the rest should pass through the filter and out the tube on the right. We have already given Cole medication that has widened the tube on the right given it a better chance of keeping the protein by being able to filter through faster. The motrin will actually narrow the tube on the left bringing the blood to the filter. They hope that with less going in and a bigger gap on the other side it might work. We should know within 2 weeks. After that if it doesn't work they were able to find one of the other drugs that just has reflux issues so we will go with that one. Oh and Nathard you are exactly right the 2 worst medications that I wanted to avoid are the 2 that they use with transplants to keep the bottom from rejecting the new kidney so no matter what he will be on them at some point.
Even with all this Cole has shown improvement in his development. He is rolling all over the place. I can't turn my bak for a second or he is a good ten feet from where I left him. We are working on expanding his play area. We've seen him face plant when on his elbows during a seizure and if that happens when he rolls off his play mat onto the wood floor we will be in trouble! We had to get the pack and play back out so I can use it for him when I need to take a shower!
We saw a Physiatrist in Boston last week. He gave us a prescription for Coles leg braces to use when we finally get out stander. He also gave us a prescription for a vest that will help with his trunk control and knee braces (they are soft and made out of like a wet suit material) right now Coles ligaments are so loose that when he starts to try and get up on his knees they just give out. These braces will give him the support he needs. We also found out he is more at risk for having his hips pop out which we knew anyway. Did you know that you are not born with hip sockets? That you wear them in yourself through crawling and walking...well since Cole doesn't do that it puts him at risk. So he told us when we get the stander we should put the foot pcs as far apart as possible and this will help with that.
I think thats about it for now. Oh we are participating in the 2nd Annual Stroll for Epilepsy on October 2nd in Concord NH. We are inviting everyone who wants to join our team! If you can't walk you can still donate...every little bit helps! You can join or donate by going to www.firstgiving.com/colerapini
Wow I just realized that it has been over a year since we started this website!!! That seems so crazy!! So lets see....Cole was in his Aunt Emily and Uncle Craigs wedding on the 28th. He was the cutest ring bearer Ive ever seen! He did so good and we were all so proud of him. The flower girl pulled him down the aisle in his John Deere wagon! It was adorable.
We finished the wean off from prednisolone last week and Cole had a pretty rough time. He was extremely cranky couldnt keep any food down and was not sleeping. We ended up in the ER on saturday so he could get some IV fluids because he was dehydrated. We got some medicine to help him sleep and he wakes up feeling so much better. We saw the Neurologist and are starting another new seizure medication to see if it will help. Fingers crossed!!
Cole is getting his new big boy bed this weekend. We would like to thank Lee for his taking the time to make such an amazing bed for Cole. It means so much to all of us!! It is better than anything we ever imagined!
Cole gets measured today for either an abilitated stroller or a wheelchair...I think we are leaning more towards the wheelchair at this point. we are still waiting to receive the stander....
We are looking into getting a service dog for Cole! Chris and I watched a program on them and think it would be great for Cole!!
We decided the time has finally come to go ahead with the G tube. Cole lost a pound which is alot for a child that does not have room to lose weight. We will find out next friday when our surgery date will be!
So Cole finally had the G Tube placed....the procedure went really well but the recovery has not been as easy on Cole. Right now he has a big long tube coming out of his belly we have to keep it taped to his chest so that he does not pull on it. Once the site has healed he will no longer have the long tube just a little button. We should be making the change sometime in December. Like I said Coles had a really hard time bouncing back from this one. He had to stop rolling because it is painful for him:( Its really hard to watch and we all will be so happy when the he has fully recovered!!! Below is a close up picture of the G Tube!
This is a pic of Cole right after surgery.... he hadn't woken up yet. I should add that the reason his head is wrapped is because they were nice enough to keep him sedated while the eeg leads were attached because he had a 24hr VEEG that night as well. We didn't count on Cole being in so much pain because everyone had said how easy it was...THEY LIED....well at least in our case that was far from true. But Cole was on morphine most of his stay so the eeg was not very accurate!!
I guess I should elaborate for those that do not know what a G Tube is. A G Tube is a feeding tube and the reason that Cole needs one is because he has a hard time gaining weight. Its not that he does not eat it is because his kidneys do not function properly and instead of storing protein that filter it as waste and it comes out in his urine. Also although Cole is not yet mobile he is ALWAYS moving whether its rolling or kicking his legs or moving his arms. These things also burn alot of calories. So Cole's nutritionist has told us that we need to get 1200 calories into Cole everyday to start... if he still does not gain weight that number will change. For now we keep track of the amount of calories he takes in orally thoughout the day. At night we hook him up to his pump which pumps a certain amount of formula into his belly throughout the night. Its alot like an IV pump and drip. We chose to do it this way because we do not want Cole to associate his belly getting full with anything other than eating or drinking a bottle. This has also allowed us to try new foods with Cole. I guess we overlooked some of the simpler things because we were so worried about getting the right amount of calories in Cole. Now that we don't have to worry he has been having Lollipops and hot chocolate and even chocolate ice cream after dinner!!!!
We found out that Cole has 10-20 times more protein in his urine than what is normal. Which makes him a high risk for kidney failure. So we are going to try some formula at night that is already broken down so that his kidneys do not have to work as hard and are hoping that will buy us some time!!!
We also placed an order for Cole's wheelchair! We went with the Kimba Ottobock in gray and orange of course!!! We can't wait to get it....but it will probably be months....we are still waiting to get Cole's stander!!
Cole had a great time trick or treating with his friend Carmine! Carmine is only 3 days older than Cole and he was nice enough to collect candy for Cole and put it in his candy bucket at the end of his wagon. It was just about the sweetest thing in the world! He would say Trick or Treat and then Can I have one for my friend Cole? Then he would run over and put it right in the bucket!! It meant the world to Chris and I!!!
HAPPY NEW YEAR!!!! So lets see whats happened since the last post? Well Cole had a wonderful Christmas Santa as well as his family and friends were VERY good to him!!! He had a great New Years Eve as well. He spent the night with his Grammy and Papa and got to try Sparkling cider for the very first time! He LOVED it and got quite the sugar buzz!!
His seizures have been better than ever. We are only seeing 1 spasms every few days. We don't know how his brain waves look until he gets his next eeg but we are hopeful that it will look really good!
He has started babbling more and more over the last few days stringing together Mama Dada and Baba!!!
On the 13th he will get his mickey button so he will no longer have the big long tube sticking out and taped to his stomach so he ca FINALLY get back to rolling!!!
His stander will be here on the 18th!! We are very excited to get it and see what Cole thinks of it! He loved is during the trial but that was in the summer. Hopefully he still likes it!
I think that might be it for updates! He is still as happy as ever! He has such a personality and finds himself to be quite humorous!!!! He really is an inspiration!
Its been a while since we updated but the last month has been a very busy one for us!!! Here is the update!
Cole had the procedure to switch his feeding tube over to the Mic-Key button! The picture below shows the new one. It is much smaller than the one we had before and only needs a tube attached to it when he is getting his feeds. He isn't back to barrel rolling yet like he was before the tube but he has completed a 360 degree roll a handful of times!
Cole recently had a sedated ABR to check on his hearing. It has gotten slightly worse than our last test. Before Coles hearing loss for all pitches was mostly moderate. Now they are mostly severe, there is no way of knowing if Coles hearing will remain this way forever or if he will lose more. One of Coles therapists had a great idea to get him to wear his hearing aids. Before he did not like them because he doesn't have very good head control so whenever something pressed on the microphone piece of the hearing aid that was behind his ear it would pop the ear mold out. When air gets between the ear mold and Coles ear it creates a high pitched static noise. She came up with the idea of extending the length of the tube that connects the 2 pieces. This allows us to clip the microphone to his shirt so he can move his head however he wants. Of course the sound isn't as good but it is better than nothing. He really seems to be enjoying them! His face lights up, his eyes get wide and you can tell he is trying to figure out what all these new sounds are!!!
We've had trouble getting Cole to wear his glasses. He completely shuts down as soon as we put them on and he refuses to open his eyes. His Opthamologist thinks that maybe we should start with a prescription that is not as strong as he needs and try and get him used to that and then keep upping the prescription until we get him to where he needs to be. We are currently waiting for the new glasses to come in!
COLES STANDER FINALLY ARRIVED!!! HE LOVES IT!!! They say to start off at 10 minutes here and there....Cole is in it for at least half an hour 45 everytime! He answered the door for the first time which surprised his therapist when she saw him standing there!! He likes to spin in circles and dance around with us!!! His first time in it he worked so hard that he fell asleep:)
His abilitated stroller also made it!! I cannot say enough about it!! The support that the seat offers him is unlike anything that we have ever had before. The pieces on the side and around his head combined with the vest give him so much support!! It came with a stroller base as well as a hydraulic base. The hydraulic base allows us to adjust the height to fit under any table so Cole was able to sit at the dinner table with us for the very first time:)
Cole has had a great month! His seizures are under control and his kidneys are improving!! It is so nice to finally get some good news, we have waited for it for so long!
I guess the most exciting thing that has happened since our last update was that Cole turned 3! We celebrated his 3rd birthday with a trip to the Montshire Museum Mommy, Grammy, Auntie Em and his PCA Jen. We brought him to Loui Louis after and had them put his mac and cheese in the magic bullet we brought along... but someone slept through lunch and woke us just in time for dessert!!! He then celebrated the next day with 50 or so of closest family members and friends!!
Cole has recently started eating more solid foods. He even opens his mouth as the spoon gets close which lets us know he is anticipating what is coming. This is huge for us!!! He also shows that he recognizes me by either crying if I don't go right to him when I get home from work or by squealing and getting really excited as soon as I walk in.
The down side of Cole turning 3 was that we lost some therapists that had been with us for the last 2.5 years. Cole transitioned from the Family Infant Toddler program into the EEE program. This was VERY hard for us as some of his team members had become like family to us. Cole now has therapy appointments 9 times per week in our home. In the fall he will try pre school a few times a week so that he can be around other kids!!!!
Oh yeah and another VERY EXCITING thing we found out that Auntie Em and Uncle Craig are expecting and Cole is VERY EXCITED to meet his cousin in September!!
Well things had been going really well for the last month. There wasn't all that much to report on! That all changed on Friday. In the last 2-3 months Jen (Cole's PCA and I) would periodically notice an increase in Coles seizure activity, at which time I would call the Dr and have is clonazepam increased. Well on Friday morning Jen told me that Cole had been having alot of seizures..."The big ones" as we call them....it usually happens when he is trying to fall asleep. his arms shoot straight out to the side, his eyes get really wide and he tries to sit up (which he cannot sit up unassisted) in the middle he makes this grunting sound like he is straining to make it stop.....and when he wasn't doing that he was tremoring. At one point I looked over and Cole was just looking up at Cole his eyelids almost closed, he looked completely lifeless aside from his tremoring hands.
I called his Doctors and they admitted him Friday afternoon for a 24 hour eeg. On Saturday my parents arrived to sit with Cole for 2 hrs while we ran down the street to our friends wedding. As we were getting ready to leave Dr. Filiano came in to give us the results of the VEEG. Surprisingly he told us that Coles eeg was normal. Great news right but whats the catch?
The catch is something called Dystonia another thing to add to the list. It basically means that deep down in Coles brain (past where the eeg can read) there are discharges being sent of that are telling Coles muscles to contract. Dystonia is treated using 3 different methods. Medication (we upped his clonazepam although we feel it is a temporary fix) there is also injections of medication into the affected area in this case Coles arms that would weakend his muscles (we really don't feel this is an option for us at this time because Coles arms are weak as it as) and then if there were a focal point jsut one spot in Coles brain that was sending out the discharges they could go in and remove that part of his brain. In the past everytime brain surgery was brought up Cole has not been a surgical candidate because his activity is generalized which means (in the past) multiple parts of Coles brain were causing seizures. We are still open to any and all options and are researching everything we can find.
In the mean time. Coles Doctors feel as if Cole is ahead of sciene!! So check our where do we go next tab to find out about our new adventures!!
We had the option to take Cole home on Saturday but because all of this activity was so new we felt more comfortable increasing the med at the hospital and making sure we saw a difference before we left.
We were released on Sunday and headed home for a relaxing night....welll we had just finished eating dinner when someone was POUNDING on our front door....I answered it to find that our next door neighboor (so close that literally if I reached my arm out my dining room window and they did the same we could hold hands) their house was on fire and we were being evacuated!!! It was single handedly one of the scariest moments of my life. I cannot explain the feeling of thinking you are losing everything. We grabbed Coles medical records, his equipment and his paintings. We are very fortunate that Springfield and the other towns that responded to the 3 alarm fire were able to save our home. But please pray for our neighbors who are great great people!!
Well I feel like I could go on and on but we are running through the house trying to find things for a yardsale this weekend so we can get Cole to Ohio!!
Cole has finally recovered from the flu!! It was a rough few weeks and a few quick trips to the ER but we are happy to report that Cole is back to normal!!! (knock on wood)
Just wanted to let everyone know that we will be holding a walk on the Toonerville Trail in Springfield VT on 9/24/2011. Please email us if you are interested in joining make sure to include your t shirt size and the t shirt size of those that will be joining you! If you would like to help but cannot make the event please click on the "Donations" tab at the top of the page!!!! We really appreciate all of the continued support!
Not much is really that new with us. Cole has really been enjoying his summer! He just started painting with the Angel By Art program and is really enjoying it!!! He loves scratching the canvas boards and banging his hands on them!! His paintings are being auctioned off on www.angelboyart.org and all the money raised will go towards Coles trip to Ohio!!! We would like to thank everyone that participated in the first auction. We hope you enjoy the paintings as much as Cole enjoyed making them!!!
As far as Coles medical goes he only new thing is that Cole will be having his tonsils and adnoids taken out. He had a sleep study that showed 10 breathing related disturbances per hour and his oxygen dropped to 87%. The sleep apnea mask is not an option for Cole because he would never keep it on his face. The suggestion is to remove his tonsils and adnoids so that there is less obstruction when he lays down. He has his consult with ENT on 8/9!
Quite a few exciting things have happened since our last post!! Chris and I finally tied the knot of 8/20/2011 and Colewas the cutest ring bearer Ive ever seen!!! It was a beautiful day spent with family and friends!!!
On 8/24 Cole had his adenoids out. They didn't have to take his tonsils out because they were not enlarged but his adeniods were so big that they basically cut off his nasal passage and he couldn't breath through his nose. The surgery went really well and Cole was released the following day. We have seen a huge improvement in Coles sleeping pattern. He sleeps through the night alot now since he no longer has to worry about his airway being obstructed!!
On 8/25 Cole became a big cousin for the very first time!! When we took Cole to the hospital to meet Wyatt for the first time he looked right at him and said "Bay bay bay bay bay" everyone in the room was shocked! Cole usually only uses his B's for bubba! He has said bay bay on a few other occassions since but only when Wyatt is around!
Cole started preschool!! He goes 2 days a week for 4 or so hours. So far he loves it!! All the kids are really good with him!! He brought home a love note on his second day and on his 3rd he was holding hands with 2 girls at the same time on recess while one of his teachers pushed him around!!!
We finally have a date set for our Ohio trip! We will in Ohio the week of November 28th so Cole can meet with a specialist at Akron Children's Hospital!!
We would like to thank everyone that attended both the Walk for Coles Cause in NY on 9/11 and in Springfield, VT on 9/24! We really appreciate everyones help in raising money for Cole and allowing us to make the trip. A huge thank you to all the businesses that donated items for the raffle!!!
Cole is still doing angelboyart feel free to look at his paintings and bid in the online auctions at www.angelboyart.com
HAPPY NEW YEAR EVEYONE!!! We have been very busy since we last posted in our journal....we are going to attempt to update you on all that we've been doing in the lat 5 months!!!
On August 20th Chris and I finllay td the knot!!! The weather was perfect and we were very lucky to be able to spend our special day with our friends and family. Of couse Cole was once again the cutest ring bearer ever!!!
Just 4 days after thewedding Cole had his adenoids out to prevent sleep anea. The sugery went off without a hitch and I am very happy to report that he is sleeping much better these days!!
On August 25th Coles first cousin was born!!! His name is Wyatt and Cole just adores him! We brought Cole to the hospital to meet Wyatt a few days after he was born. I was holdin Wyatt in the glider and Chris wheeled Cole over beside us.....he took one look and Wyatt and started sayin bay bay bay bay bay........everyone was shocked....Cole has only ever used his B's for bubba none of us had ever heard him sa baby!!! He still calls Wyatt his baby its sooo....cute!!!
We had a few successul fundraisers for Coles trip to Ohio this year. The first one took place in Geneva New York at the Semi Pro Football Championship Game between Finger Lakes Impact and Troys Fightin Irish. We had thought we were just going to watch a High School Football game when we arrived there was a tent set up selling thigs to raise money for Coles cause. At half time we were taken out to the center of the field and the announcer read Coles story and told the fans about the walk that was taking place the following day to raise money. After the announcer finished we started walking off the field....we didnt get far when we heard people yelling to us.....a few of the football players and one of the coaches wanted their pictures taken with Cole! It was so cool. They were talking to him one even told him they were wearing his bracelet!!!! After the photo session was over we went back to the tent..... I was in tears on the phone with my parents when someone went to the Coles Cause tent and asked Chris if we could stick around after the game for some team pictures!!!! We were so excited after the game was over we were called back out on to the field....and Cole was bombarded by the other team....they wanted their pictures taken too!! Iam not sure if any of these men actually understood how much this meant to us. Cole sat in his chair with a smile on his face hoot'n and hollar'n......he had this look in his eye that we had never seen before....he was happy and proud and excited......it really is one of the coolest things that has EVER happened to him and he knew it. We would again like to thank you all for taking the time to make Cole feel so special Iknow it probably didnt seem like much but it meant the world to us.....and it reminded me that there are still good caring people in this world......remembering all these big football players diving in aound Cole to get a picture still puts a smile on my face!!!
Th following day there was a walk at Seneca Lake which was beautiful!! There was a DJ a bouncy house a bbq and so much more!!! We are very fortunate to have such a caring family and would like to again thank everyone that participated!!
A few weeks later we had a walk in Springfield and a few weeks after that a more grown up funraiser!! Thanks to all of our friends that raised money, collected items for the raffles, baked, participated in the walk and the T shirt contest. Instead of providing t shirts we asked everyone that wanted to participate to make their own Coles Cause T shirt...we then took pictures of the t shirts and did an online vote to determine who would win one of Coles paintings. We loved seeing all the creative t shirts!!
Also thank you to all of our friends that attended the Olympics to raise money for Cole and to Syd for hosting the event! We had a blast its always nice to have fun and enjoy time with our friends!
In October Jen and I were asked to be a part of a radio show 2 part series. In the first episode I was interviewed about what it is like raising a child with special needs. We talk about how Cole has changed our lives and our beliefs we touch on how it has affected Chris and Is relationship along with a bunch of other things. The next week it was Jens turn and she was interviewed on what it is like to work with Cole and how it has changed Jens life and beliefs as well. The links are below if you'd like to listen!
This is Jens
This is Hannas
Halloween wasn't a very good day for us. I was really excited to bring Cole to preschool for the mini Halloween parade. He had made a paper plate mask with Jen to wear! Unfortunately as soon as we got into the school Cole had a seizure. Although I was bummed the seizure ruined his day I was happy that one of his teachers was able to see what one of Coles seizures looked like and that she was observant enough to recognize it without Jen or I saying anything (we try not to make it a big deal and most people dont notice them because they only las between 2-20 seconds) But she came over and asked if thats what it was. That made me feel alot better about Cole being in school knowing that even if Jen isnt right there other adults are aware of what his seizure activity looks like and can notify me. The seizures continued the rest of the day and we ended up admitted for a 24 hr veeg. Cole didnt make it out trick or treating because the seizures took tole on him but he did dress up to help give out candy and he also was invited to his first Halloween party which we all thought was AMAZING!!!! Thank you Milliken Family you guys rock!!
November was very busy for us!! Jen and I travelled to Washington DC where I spoke at the First Rare Disease Caucus Briefing!!!! I only had 5 minutes to get our story out and I wasn't nervous at al until Igot up to the podium and started to speak....My hands shook so bad I couldnt hold the paper and I honetly thought that I was either going to pass out or puke.....I stared down at my paper most of the time instead of looking at the crowd like I was supposed and was really disappointed in myself when it was over....but then I realized I am not a professional speaker... I am a Mom and I spoke from the heart and thats the best I could do!!! Heres the link for that too!!!
A few days after getting back from DC we hopped in the minivan (yup blew the tranny in the 4 Runner 5 miles from home on the way back from DC had to finally cave and get a swagger wagon!!) and headed down to Georgia for Thanksgiving!!! We spent the week with Abbey and Ben and got to meet all of Bens family and spend sometime with the Weeks family too! We took Cole to the Atlanta Aquarium.... I was a little worried after the horrible experience we had when we took Cole to the Boston Aquarium. My worries were diminished the second we got in the ticket line...istead of being made to weave in and around the roped ticket lines with an adapted stroller that is wider than the lane itself we were immediately plucked from the line and taken to a seperate counter and the escorted to the front of the picture taking line. Once inside everyone treated us with so much respect and kindness.....In front of the big exhibits they had these mats almost like handicapped parking and when they saw us coming they would be they people off the mats so Cole could have front row seat!! He especially loved the beluga whales....they say that the belugas can see you just as well as you can see them well they would swim wicked fast at Cole and then turn just before they hit the glass!!! We also went to the special Dolphin show and again were escorted to the express lane and then the elevator. I would highly recommend the Atlanta aquarium to anyone!!!!
After leaving Georgia we headed straight to Akron Ohio for our appointment with Dr. Cohen. Akron was actually a really nice place and out of all the places we have been if I had to pick one place to live it would definitely be Akron!!! The appointment went really well. But we are still waiting on test results to see if we will come up with a diagnosis or not. There were some ideas thrown out about possible diseases that would take Coles life at an early age and his quality of life up to that point would be terrible.......luckily those results came back negative but it changed us and where we will go from this point on.
We have decided as a family that we will no longer be travelling across the country in search of a diagnosis. Now by no means are we giving up. We feel that between Dr. Filiano Dr. Cohen and NIH we are very comfortable with our current team. We realized that for the last almost 4 years we have been to State after State and undergone test after test after test......we have never been on a family vacation. If someday Cole is diagnosed with something or even if he remains undiagnosed but his life is cut short we want to look back and remember the good times...the trips the laughter to be able to have memories other than hospital trips. We will continue to push for Cals Bill because we believe that may be our only hope for answers.......but we are going to live a little!!!
Christmas was a very busy time for us. We were out straight from the 23rd to the 28th with family gatherings. It was great being around the ones that we love. Abbey and Ben were home for Christmas it was great to have everyone together on Christmas Day. Cole slept through alot of the presents because one of his Aunties gave him cheesecake at 9:00 on Christmas Eve and he was up past midnight lol but the boy made out like a bandit. He got alot of great toys that, clothes and of course shoes!!!!!
On New Years day Cole, Chris, Wyatt and Craig were all Christened!!! It was a very intimate ceremony held in our home with our immediate families. We were very thankful that Sara Vitale braved the icy roads and made it to our home to performthe ceremony. She is such an amazing person and has given s much to Cole and our family and we were honored to have her take part in our special day!!!
So I guess that means you are up to date!! Cole has come so far this year and we cannot wait to see what 2012 has in store for all of us!!!!
Make sure to check out our photos from 2011!!!
In 2 days Cole will be 4 years old!! Where does the time go??? Cole Michael Mommy and Daddy are so proud of everything that you have accomplished in the last 4 years!! You make everyday so enjoyable you smile can instantly brighten any situation!!!
Last weekend we had a lights off Birthday Party for Cole!!! We decided to invite less people and do something that Cole would enjoy. We had a black light room and the lights off room. Everything lit up from the ice cubes in the punch bowl to the forks to the mohawks and more. We blacked out all the windows in the living room and even had laser shows on the wall.
Cole of course was sick as he seems to be every year for his Birthday and slept through most of the party...he did enjoy the lights when he woke up but got pretty cranky after a while. He also wore the cutest Birthday shirt made just for him!!!! Her are a few pics from the party!
Well it official Cole is a big 4 year old! He had quite the day yesterday!! Once he decided it was time to be awake Chris and I got up. We tried to get him a great breakfast but he didnt really like it:( He took a good long nap in the morning and I made cupcakes with orange frosting for him to bring to school today!! When he woke up we went out to lunch with Uncle Nicky and Auntie Mar!!! It was funny when we wheeled Cole up to the table he kicked his legs out set his feet on the table and crossed them... you would've thought he owned the place!! Lunch was great Coles favorite was the potato salad. After lunch we went home and hung out on the deck enjoying the beautiful weather! We went to his friend Carmines 4th Birthday party in the afternoon and then back to enjoy more sunshine! Grammy and Papa came over for hotdogs and presents and then all of us headed down to the farm where we met Auntie Em Uncle Craig and cousin Wyatt!!! We went out in the field and let off 4 wish laterns......each family lit their own lantern and made a wish for Cole and then we let them all go and watch them until they went out. New family tradition for sure!! Today Cole brought his cupcakes to school and shared them with his friends!!! All the kids loved them....or at least the frosting!!! They sang Cole the birthday song and he had his very on Birthday crown!!!! What an awesome day!!!
Things are still going well for Cole!!! He still loves school his friends and hanging out with his cousin Wyatt. He is anxiously awaiting the arrival of another little cousin named Gavin Cole who is expected to mke his debut in July!!
If you looked for pictures of Coles birthday and were unable to find them we have been having trouble uploading them. We are planning a complete remodel of Coles entire website so check back with us soon!!!
Things have been super crazy but stop back tomorrow for the launch of something SUPER FUN!!!
Whoops it took me a few extra days sorry for the delay. Check out the new tab Coles Bucket List. If you have questions or ideas feel free to email us firstname.lastname@example.org
What crazy few weeks it has been! Coles bucket list has taken off in a way that we never expected. His news story has been watched by people all over the country and everyone is very eager to help! The best way to contact us is via email@example.com
. Please be patient if we do not get back to you right away. We are doing our best to keep up with everything! Thanks so much for all the support!!!
Things have been very busy for us lately. We have been crossing lots of items off the bucket list!!! We are amazed everyday at the amount of love and support that Cole is receiving! You guys are the best!
Things have been very crazy since the last time that we updated!!
Coles Auntie went into labor early so on 7/9/2012 we hopped in the car and started our journey to Georgia! Unfortunately we didnt make it in time for the delivery but Gavin Cole Bush was born 7/9/2012 and is perfectly healthy and adorable!!
We spent 2 weeks in Georgia visiting with friends and family. Swimming in the pool and we even go to go to the Aquarum again!!!
The last week that we were there Cole wasnt really acting like himself. He was really pale and had big dark circles under his eyes. He slept alot and when he was awake he was very cranky. His appetite decreased and he was taking most everything via G Tube. He also began having these staring spells where everything would tense off and he would stare off for up to 20 minutes at a time.
After speaking with our Doctors back home we decided that it was best to have him checked out at the ER before hopping in the car the next day to start the 20 hour journey back home.
I cannot say enough good things about Scottish Rite Hospital in Atlanta Georgia. We have been all over the Country to multiple hospitals and we are very critical. But this is one of the best hospital experiences we have ever had!! Which was a huge relief as it was kind of scary being somewhere where nobody has a record of you!
The ER department got us right in and within a half hour of being there Cole had already had his CAT scan and Dr. Shizzle (yes like Fo Shizzle as one of the Nurses said) told us that the scan was clear. But that they still wanted to keep him overnight and monitor him in the PICU (Pediatric Intensive Care Unit).
To make a long story short...for some reason Coles blood pressure was really low.
Now Coles blood pressure is usually on the low side because he takes to blood pressure lowering medications. The side effects of these medications are that they lower kidney function...which is why he takes them...they help control the way Cole filters protein.
They stopped the kidney medication hoping that would help but unfortunately it was not enough and he had to be on dopamine for 2 days until they were able to get his blood pressure high enough and he was able to maintain the number on his own. After 5 days in the PICU we were finally released to start our journey home!!
Unfortunately since we stopped the meds Coles kidneys were not working at all like they should be and because his body was retaining things instead of filtering them his eyes, face and belly swelled up alot. Which was very scary for us as we were in North Carolina and our Kidney Doctor and Pediatrician were both on vacation. Thankfully we were able to talk to a kidney surgeon who told us what signs to look for.
By the time we got back up here Coles protein level in his urine was over 17 and the level in his blood was a 1.4 ( 0 ) is kidney failure.
We did another few days in the hospital at home and am happy to say that we are now home and on both medications!!!!
Our levels still are not what they used to be but we home that they soon will be!!!
Yesterday Cole returned to preschool and after a month all the kids were very excited to see him!
He also had his first therapies in as long today and did great!
Things have been really crazy for us this year and unfortunately I haven't updated as much as I would like to! Cole had a rough first half of the year health wise but luckily things have settled for him. He started Kindergarten in September and is LOVING it!! The bus picks up at 8:50 am and drops him off at 3:30pm. Everyday when the door opens and the wheelchair lift drops out there he sits snoring away. That 5 minute ride gets him every time. He has made lots of friends and possibly even a new girlfriend! We have done lots of exciting things and have a few more on the schedule! It would take me hours to catch you up on the last however many months so I will be updating the bucket list so that you can see all that we have done!!