|Diagnosis||Additional material on chromosome 10|
|Parents||Gary and Caroline Young|
|City||Ft. Myers, FL, USA|
I had a normal pregnancy, apart from having a lot of extra scans as they could only detect one kidney on the baby. Between the two hospitals I was under they really couldn’t decide, but they could tell that everything seemed to be working OK.
She was delivered full term weighing 7lb 4oz - everything seemed fine. Our first problem was she wouldn’t feed, she didn’t seem to know what to do, there was no sucking reflex. She was tube feed for a couple of days after which we were able to get an ounce of milk into her every 2 - 3 hours. It was extremely frustrating as she would gag and bring a lot back up.
Due to the difficulties we were having the doctors decide to run some tests and give her a full examination. This determined she only had one kidney and that there was no rectum opening - there was just a small hole close to her vagina. Blood work diagnosed that Charlotte’s chromosome 10 had an extra portion on it. My self and my husbands blood work came back negative, we were inform that Charlotte’s condition started at conception.
It was a rough couple of years. Our biggest challenge was getting her to feed, at a year she only weighed 16lbs. It was also becoming apparent that Charlotte was not developing as would be expected. Charlotte never crawled, she used to roll herself to get around. Charlotte walked at 18 months, she was almost 2 before her teeth came through (at the age of 10 she had her baby teeth removed as they wouldn’t fall out naturally and her permanent teeth had already come through). About this time we noticed that her right foot wasn’t growing at the same rate as the left, this turned out to be a deformity called a ‘serpentine foot’. Charlotte’s foot is now two sizes smaller and curved, we opted not to have surgery - she walks, runs her foot really doesn’t bother her. Getting shoes is a challenge!!
At 2 Charlotte underwent surgery to correct her anal passageway problem. This was successful. At the age of 6 Charlotte was potty trained day and night.
Between the ages of 13-16 Charlotte suffered several convulsions, they were usually a year apart. Charlotte had a lot of tests done, but we were unable to find out why this was happening. I personally think it was due to chemical/ hormonal changes going on, because at the age of 14 she started her period and her body was going through huge changes.
Charlotte attends high school and is in a life skills program, she will stay in education until she turns 21. Charlotte very much enjoys going to school and even though she likes her own company and is a solitary person she converses with her peers and teachers.
Charlotte has an extensive vocabulary, can read approx 50 sight words, can recognize numbers and can count simple items. Charlotte can’t write, but can use a computer to write her name. She is brilliant with electronic gadgets she works her leapster, CD player, iPod, TV and DVD player all by herself - now and again she will throw a tantrum when she presses the wrong button!
Charlotte is a happy, contented child most of the time, like all children she has her moments. We don’t know what the future holds, or what we will do when Charlotte leaves school, hopefully we will be able to find a day care center for her.