My fabulous sister, Joy...who is extremely smart and fabulous and wonderful and beautiful and awesome...asked me to tell her about Karleigh's diagnosises for a paper she is writing in school. So I have this recorded for later, I just copied and pasted what I wrote to her so it wouldn't get deleted or lost. I think there are some things missing, but my brain has shut down for the night! Anyway - you can read on if you want to learn more about Karleigh and the issues she had. _______________________________________________
Hey hotness, fancy-pants Joy –
OK – so since I have been cleaning since 6:30 AM and my body and mind are wasted…I will try to write down stuff you need. If I miss stuff or don’t explain it enough, let me know and I will tell you more. Sorry if I ramble – I probably will!!!
Main diagnosis – Mosaic 5q deletion. Her missing sections were between the 13th and 21st section on the Q side of the 5th chromosome. This main problem then caused many sub-diagnosis’s to which affected her greatly. I will just list them off and then try to expound on them a bit. Let me know if you want more info. Her diagnosis was the only one of its kind that her dr. could find. She searched the databases and could only find kids with the full 5q deletion. Hers being a mosaic meant it affected some cells and not all – which in turn made her better off than those with a full 5q deletion. Still much to deal with on her part, but we are grateful there wasn’t more! So basically, some of her cells were completely fine, others had the deletion. We did not find out this diagnosis until she was about 7-8 months old, though. We found it out through a skin biopsy taken during surgery for her g-tube at 6 months. They sent it off to be tested for all kinds of things and that is what they found. Blood test months prior showed no sign of anything wrong.
Cerebral Palsy (CP) – She had low muscle tone which made it hard for her to hold her head up, support herself in sitting and standing positions, make her muscles move right. But with that low muscle tone, she also had a lot of spasticity in her muscles which would be very apparent when she would arch. This also caused her to not be able to move her arms, legs and head where she wanted it. With this, she also had the ATNR reflex, which is normal in every newborn. For example, if she brought her left arm and hand up to her ear, then her head would turn to the right and the right arm would go out away from her body. Babies outgrow this by about 4-6 months or sooner, but she wasn’t able to. This caused her to never be able to bring both hands midline (in the center of her body or face) to hold onto toys or other things right in front of her. This frustrated her a lot because she very much wanted to hold onto her toys and to play. She would work so hard just to get her hands to pick something up or to even swat at it. She had to concentrate so hard to even be able to get her arms and hands to do what her mind was telling it to. The look of determination on her face while trying to get her body to move right was so inspiring, yet so hard to watch. We take so much for granted! She had a little wheelchair as well as some other special chairs for sitting in. We got her a stander to get her in the upright position and put weight on her legs about 4 months before she died. We had a special bath chair that would strap her in and not allow her to get her face in the water because of her aspiration problems, which I will talk about next. She had weekly visits with her Physical Therapist, Occupational Therapist and Speech Therapist along with all her dr. visits. She wore AFO’s (Plastic molds made to fit her foot and legs) to get her and leg muscles and tendons to hold her foot in a normal position since she wasn’t load bearing and to also help support her ankles when we did stand her up. She would wake up 10-15 + times a night for about the first 2 years. Many times it was due to her low muscle tone and she just wanted to be readjusted or turned to a different side or position. Other diagnosis terms they gave her in the beginning – torticollis, plagiocephaly, hypotonia (low muscle tone).
Feeding issues – From day one, Karleigh had feeding problems. She could never nurse good and I remember it almost tickled when she would nurse. She did not have a strong suck. She would scream and scream at every feeding, had awful reflux and cried all the time. Zach had had problems nursing, so I thought maybe it was just me not doing something right. At 11 weeks old, I quit nursing and bottle fed. She still had the same problems. Finally, around 12-13 weeks old, I took her into her pediatrician because she had screamed for 2 weeks straight almost day and night. I couldn’t figure out what to do anymore. She sent us for an upper GI scan and they found out she had reflux. This then started the whole process of figuring out what was wrong. They put her on meds (Zantac and Reglan) and thought that would solve all our problems. We then went to the Children’s Hospital in Denver and started figuring everything else out. Along with the reflux, she had pretty severe aspiration problems (food or vomit goes in lungs). She was very fortunate this never turned into pneumonia. Chest x-rays were routine in trying to figure out unexplained sicknesses – just double checking to see about pneumonia. Also, other big GI x-rays and scans and tests. She needed someone around her at all times to get her rolled over if she did start vomiting. Sometimes the gagging and retching wouldn’t allow her to take a breath for a long time. So, having her right there so you could blow a quick startling blow of air into her face would often help her take a breath. The gagging could get pretty violent and scary and she would be pretty wiped out after it.
Karleigh was born at 6 lbs. 14 oz. (everything saying she was fine and healthy) and at 6 ½ months old she weighed only 12 ½ lbs. At 6 months when they found out about the aspiration problems, a week later had her in for her first surgery to get a g-tube placed in her belly and also a Nissan fundoplication (stomach wrap to try to prevent the reflux – which in her case, it didn’t work and she would still reflux and then aspirate). The g-tube was wonderful, but the Nissan wasn’t. She had many complications with it (a lot of severe retching and gagging – mostly because it was wrapped to tight) and ended up about 8 months later having a second surgery to have it loosened and her stomach pulled back down into place. The wrenching and gagging had caused a hiatal hernia (the stomach goes above the diaphragm). She eventually had a gj-tube placed and that relieved so many problems. The gagging was still there, but not nearly as much, nor did she have much in her stomach to aspirate on when she did reflux. This feeding tube used the same original hole in her belly, but it was not just a stub into the stomach. We went in about every 3-4 months to the Interventional Radiologist and as she lay under the x-ray machine, he would insert a longer feeding tube through the stomach and into the first part of her intestines. This would make the food bypass the stomach so she couldn’t reflux and also make her much more comfortable. It did wonders for her! The only bad thing was that she would then be constantly hooked up to her feeding pump almost 24/7 because her special formula had to be pumped in very slowly over the entire day and night. (PS – her formula had to be a very broken down kind so it was easily digestible – it would cost us $1200/month if we didn’t have the awesome insurance we had back then!) Luckily, they gave us a handy backpack type thing that we could carry around with her and also hang it from her IV pole that hooked on her wheelchair.
At about 6-7 months, before we got the Mosaic 5q deletion, her neurologist had her do a cat-scan on her brain to determine her brain function and see the structure of her brain. He also did a EEG to look for seizures. She did end up having Complex Partial seizures. They were not easily detected because it caused her to stare into space for 15-30 seconds. After we knew what to look for, we could tell and then she would take about 10-15 minutes to come around fully. Then she would be back to her normal self. She was put on Phenobarbital for this and it worked great for her.
About this time we also took her to a Pediatric Ophthalmologist and he said that she was having a very hard time seeing. She got some little tiny glasses and then had check-ups on her eyes often as they would change as she grew. It was hard to believe the eye dr. that she couldn’t see well because she did not seem like she had much of a problem at all. She hated keeping her glasses on and would often swat at them with her hands to knock them off. Since they were hooked around the back of her ear, when she would swat them, it would often push them right into her mouth and she would not be able to get them out. Or the little nose pieces would go up her nose. So uncomfortable.
Karleigh had a hard time regulating her body temperature. When she was a newborn, we couldn’t keep her warm. She was always chilly! Then as she got older, she would get so hot and overheated with the amount of energy it took just to sit in her chair or to wiggle around or do her therapy. She also was diagnosed with RAD – Reactive Airway Disease. She had a hard time breathing in strong wind and also cold temperatures. In a sleep study she had, they found that she needed oxygen at night as well (which was pretty much IMPOSSIBLE to keep on her!). We had 2 big ugly oxygen tanks in her room at the bottom of her bed. Her breathing was very loud and rattle-y sounding – day and night. This was partly because of her CP, but also because she had big tonsils and adenoids. She went in for her 3rd surgery about 3 ½ months before she died to get her adenoids out and ear tubes put in (ear infections happened ALL the time!! ALL the time!). They would not take her tonsils out during that surgery because it was too risky. She would have had to go in later in the year probably to get them out. Her ENT was convinced that she would end up in the ICU if we took out both adenoids and tonsils at the same time because of her breathing problems as well as her other issues. No thank you!
Since there were no other known cases of someone having a Mosaic 5q deletion, everything was a guessing game for her dr’s. She was at a greater risk of developing colon cancer (a 5q deletion symptom) and at the age of 10 would be required to have yearly colonoscopies. Once characteristic that I remember her dr. pointing out was her fingers and how they tapered at the ends by her fingernail. That also is a 5q deletion symptom. She had quite chubby little hands, but they tapered at the ends – quite cute if I do say so myself!!!
Her hearing was fabulously fine!! She was super smart and we felt bad we didn’t know quite how smart she really was for a long time. It was hard to know since she couldn’t tell us in word or body movement. She was very aware of her surroundings and communicated mostly by talking (in her own way), crying or through her eyes. If you gave her a choice of what shoes to wear or what shirt she wanted that day, she would stare at the one she wanted. When you would confirm it, “Karleigh, do you want this one?”, she would get a big smile on her face and sometimes laugh or get really excited. She loved bright colors and being outdoors. She loved animals, especially our dog, Mickey. She LOVED soft music and would sit totally still if we were at a concert or during the sacrament songs at church. Then when the music was over, it was back to wiggling or playing….or crying. She loved for Zach to push her around fast in her wheelchair and loved to play peekaboo. She was often sick, but most people didn’t even know because she always smiled and tried to be happy when she wasn’t hurting. She loved to lay on the floor and have you put a blanket over her face and then pull it away really quickly. She would squirm so much with excitement while playing that that one time she almost flipped herself over onto her stomach….which was an amazing, amazing thing!! She couldn’t do that normally. She was a total teaser and totally knew what she was doing when she teased! She loved to be rocked to sleep. If she wasn’t asleep when it was bedtime, right when you would lay her down and turn on her musical frog, she would start to whimper and give you the biggest, saddest puppy dog eyes that you had ever seen. It was so hard to leave when she would do that, so she often got her way and I would stay and play or give hugs and kisses just a bit longer. She loved to snuggle and if you had her head on your shoulder, she would try to get her arms around you and squeeze as much as she could. She made many improvements in therapy the months before she passed and was doing so well health-wise. Sicknesses had slowed way down and her belly was not as temperamental at the end of her life. She started advancing a lot and it was so exciting! We saw a glimpse of what it will be like for her someday!
Ok Joy - well – I have a feeling that I am missing something, but can’t really think anymore tonight. Let me know if you can think of anything else, and I will think some more of what I am missing. Good luck on your report!! I am sure you will do fabulous! Don’tcha remember….yer the smartest and hottest sister of us all...and the nicest!!! Let me know how it goes and send me a copy!
Love you lots!!!
Tracy
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Here are some pictures of some of Karleigh's equiptment... Taken last year when we decided we could finally part with them. I know - took us a while, but now they are being used plenty by other special little kids!
This wheelchair was such a part of her that it was honestly the hardest piece of her equiptment to let go. We have heard that it is being used now and we are thrilled that Karleigh is still helping others.
Here are a few pictures from our house hunting trip to Portland, Maine. It is beautiful out there and the air was crisp and clean. We are excited for the adventures that await our family!
The "locals" we met told us how to get through the winter....just find an outdoor activity (like snow shoeing or cross country skiing) that you enjoy and get out often! Brrrrr.....but sounds fun!!
After a frustrating day and a half of house hunting with no luck, we decided we needed to get some fresh air and decompress for a bit. We didn't have anymore appointments for the day. Chris wanted to take me on a nice date that evening. First we went to the Portland Head Light, which from what I have read, is one of the most photographed lighthouses in the country. After thoroughly enjoying our time there, we went downtown for dinner. Chris took me to a really cool restaraunt on an old ferry boat. I was even brave enough to try lobster and crab! It was a great evening and I can't wait to do it again! (hint, hint!!)
And here it is....our home for the next couple years! Typical salt-box style house in New England - not the most attractive outside, but all redone on the inside. It will be a good house for our family. We are right by the coast so there are beaches super close! Anyone up for a trip to Maine?!!
Sick of pictures of us yet? Sorry...we don't remember to take pictures of us very often, so I had to document them! 
Zach got a speaking part as a buisnessman and did a fabulous job! My motherly pride swelled as I watched him perform his memorized parts. He did great!!! (Too bad my camera didn't! It's new and I am still figuring it out.)
Joy (my sister) did a fabulous job on her report and project about Karleigh and her disorder. She sent me a copy of her powerpoint that she made and it was fabulous and even made me cry. Joy truly is a very special girl and is going to do great things with her life! She has already done many great things with her life!! She is wonderful and I love her very much! Since I am not that talented at the computer and can't seem to figure out if there is any way to load her powerpoint on here, I am just going to retype the part that made me cry the most (yes, with Joy's permission).
So, I haven't had a one year old little boy in well...about 9 years now. I forgot what little troublemakers they can be! While being the sweetest and cutest little one year old around...oh, he can try my patience and my sense of humor.
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