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Shelby Cheyenne George 
Welcome to our Child Web Page. It has been provided to keep people updated about our daughter Shelby. Shelby has MPS III or Sanfilippo Syndrome.
Hello everyone!! I get asked so often about a caringbridge webpage for Shelby so I thought I would start one.
Shelby was born January 16, 1995; we called her our miracle baby. We did not know for sure if we would ever be able to have children and were very excited when she finally arrived full term and healthy.
When she was about 2 – 2 ˝ we started to notice that her speech seemed to be delayed. We brought this to the attention of her pediatrician and the doctor felt it was due to Shelby’s history of chronic ear infections from about 7 weeks old.
Shelby then began to be very hyper, could not pay attention and seemed delayed in other areas. When Shelby was 4 we took her to see a developmental pediatrician. She diagnosed Shelby as ADHD and we tried Ritalin. Shelby could not tolerate the Ritalin so we had to discontinue the medication. This doctor also did a urine screen for MPS which came back negative.
Also, in May of that same year we had her hearing tested and found she had a moderate hearing loss. The combination of the ADHD and hearing loss seemed to be the answer to her developmental delays. We got hearing aides for her and hoped for the best.Shelby hated the hearing aides and we had a very hard time getting her to keep them in her ears, but with the aides she was making some progress with speech.
When she was almost 5 we had her reevaluated for the ADHD by a child psychologist, she confirmed the diagnosis and we then took Shelby to a psychiatrist and started her on Adderall.
At her 5 year old check up I expressed my continued concerns about Shelby’s development and her lack of a connection with reality. The pediatrician referred us to genetics, stating that it usually was not a genetic disorder but she would send us anyway.
We had our first appointment with genetics in May of 2000 and at that time we were told they suspected MPS. I did not remember at that time she had been screened for that at age 4. We did the urine screen, blood work and skeletal x-rays. July 12, 2000 the doctor called and told us the urine screen came back positive for MPS and more than likely it was Sanfilippo Syndrome. I had already suspected this after doing some research but it was still devastating news. We did the skin biopsy and about 3 months later we received the confirmation of Sanfilippo Syndrome Type A.
Getting the diagnosis was almost 5 years ago and although we have come to accept that Shelby has Sanfilippo Syndrome it is still hard at times to live with what her future holds.
Sanfillipo occurs approximately at a rate of 1 in 50,000 births and is further broken down by sub-type. (A,B, C, and D) Sanfilippo syndrome was first described in 1963 by Dr. Sylvester Sanfilippo and is considered rare, with an occurrence rate of 1 out of every 25,000 live births. It is an autosomal recessive hereditary disorder in that both parents have to be carriers of the defective gene and must both pass the gene on to the child in order for the child to be affected. There is a one in four chance of having a child born with Sanfilippo syndrome when both parents are carriers. There is also a two in three chance that unaffected children will be carriers.
Incidence rate of being a carrier is 1 in 125.
Mucopolysaccharidoses (MPS) is chracterized by the absence or deficency of one of seveal enzymes which break down the glycosaminoglycans (GAG's) in the body. GAG's are complex sugar molecules which build-up in the heart, brain and joints of Sanfillipo children.
Type A is caused by a deficiency of the enzyme known as heparan sulfatase and is the most severe type with earlier onset and earlier death than the others. Type A is also the most common form of Sanfilippo syndrome.
 
Journal
Tuesday, July 29, 2008 2:20 PM CDT Hello,
I thought it was about time I did an update on Shelby. Shelby is doing very well. It took her several months to bounce back after the g-tube surgery, but I am certain that is because she got pneumonia, then a fungal ear infection. She has been doing very well the last month at least, putting on weight and being overall content most every day.
It is hard to believe summer is almost over. School starts in a little over 2 weeks! Once again, Shelby will have a new teacher. I so hate change. She is going to be in a larger classroom, and I am not certain how well this is going to work out. We will just have to see once the year gets started.
Shelby will miss the first day of school, she has the procedure to replace her g-tube with the mic-key button that day. I think it will be nice to not have that long tube dangling down, it seems to get in the way all the time and Shelby likes to get ahold of it and then she involuntarily tugs on it with her arm movements. It was completely healed then got red and yucky looking again, I am fairly certain it was from tugging on it. It is looking better now.
For the first time ever, Kevin and I left Shelby with someone while we were gone for a week. My mom and sister stayed with Shelby and they did a wonderful job taking care of her. I suspect she was quite spoiled, even more so than usual! They even polished her fingernails while were gone. It was strange to leave Shelby for that long. In her 13 1/2 years of life, I have only been away from her overnight, once. It felt very odd not having to keep in mind her schedule. I would find myself checking my watch all the time thinking it was time for this or that. We were in a difference time zone, but I kept my watch on home time so I would know what she would be doing at any one time. Shelby survived and really didn't even seem to have missed us!
Thanks for dropping by!
Hugs,
Sheila
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Links: http:// National MPS Society
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