Here are some things I would have liked to know when I found out my child had a 5p deletion:
Scott was born in 2003, 3 1/2 weeks before his due date because the doctors wanted him to be delivered because they believed he was IUGR. He was 4 pounds 2 ounces and we called him our little alien baby. We did not discover he had a chromosome deletion until he was almost 1. His pediatrician noticed high nipples which can be a sign of a chromosome anomaly and sent us for a DNA test. Scott has a deletion at 5p15.3. We (his parents) were also tested and our chromosomes are all intact. The first geneticist we were referred to believed Scott had Russell Silver Syndrome but this proved wrong as Scott grew.
As a baby Scott was horrible at eating and sleeping. I am not sure how we survived that first year with no sleep. To this day I occasionally give Scott Melatonin to help him fall asleep but he is much better now that he is older. He still wakes up with the sun though, no matter what time he goes to bed. As a baby his weight gain was so slow that the doctors said he had failure to thrive and sent us to a nutritionist. I breast fed him for 11 months but he didn’t want to do it anymore so I stopped. When I nursed him he had tummy aches all the time and I stopped eating dairy which helped. He wasn’t good at eating solids either. He would chipmunk the food in his cheeks because he didn’t want to swallow. We tried adding calories to his food to help with weight but that didn’t work. He was even prescribed a medicine that was supposed to increase his appetite but that didn’t work either and I would not recommend that to others. At age 13 he is still petite and very thin and shorter than kids his age but there is no worry that he isn’t eating enough. He is a much better eater now! We have 5 children (Scott is the oldest) and he is currently one of our best eaters.
Scott was fully potty trained at age 5 but still had difficulty passing stool. He would hold it in for days. I gave him Miralax when he was really bad and that helped. It still takes him a long time to go poop but he will grab a Where’s Waldo book and go sit for a while. Sometimes it takes him several “tries” to finally get it out. So the good news is that he did get potty trained and it’s something we don’t fight about anymore. At age 13 he still occasionally wets the bed but I have him sleep on a medical grade bed mat that we can easily wash if he does wet the bed.
Scott had low muscle tone and didn’t walk until after 18 months. He also had torticollis as a baby and we had to do neck exercises and I also had to brush his body with a baby brush so he would not be so sensitive to touch. Scott has tactile defensiveness and is extremely picky on what clothes he will wear and constantly wears a sweater which I have to force him to take off even if it is very hot outside. He HATES to be barefoot or to get his hands wet. He avoids washing his hands because he does not like the way they feel when they dry. He also does not like his body to be touched if it is straight on his skin.
He didn’t speak much of anything until he was 3 to 4 years old. We had intervention with the county at age 2 and at age 3 he started the school districts rocket program and that helped his speech a lot. He still does not have the best articulation but it is much better than it used to be. There are only a few sounds he still can’t do like the “r”. He still receives speech at school. His receptive language has always been much better than his expressive language. We did sign language when he was 2 and 3 until he started using words.
At school he is in special day classes (special ed) and goes to science and P.E. with a general ed class. I held him back in 3rd grade hoping it would give him more time to get some basics learned. I do not regret holding him back. The hardest thing academically for Scott is reading. He is 13 and reads at a 2nd grade level. I do hooked on phonics with him every day and wish I had started that when he was younger. He gets very emotional when he reads because it is difficult and he gets frustrated. His short term memory is not good. You can teach him something and five minutes later he doesn’t know it anymore. He has to have a lot of repetition to get it to his long term memory. He does though seem to have a great memory about some things, like if we drove somewhere. When he was very young he would cry when he realized we were driving to a doctor or if he thought he was going to a certain destination and we drove a different route. At school when they do the triannual IEP his evalutions show that he has some mental retardation. When I was younger I used to use the phrase “that’s so retarded” – I never use that phrase anymore and it makes me sad when I hear others say it but I understand that people don’t realize the hurt a parent feels when they hear people speak lightly of retardation. We do wonder how far Scott will be able to progress academically but we just keep moving forward and pushing him to do the best he can! When it comes to school services and doctors, we have learned that you must be informed and advocate for your child.
Scott was sent to a lot of doctors in his early years but we don’t see any of them anymore. He saw a cardiologist because he had a small hole in his heart but it closed when he was young. He saw a head doctor because they thought his head was shaped odd but that didn’t need any treatment and now his head is fine. He saw nutritionists, gastroenterologists, geneticists, etc. but now we just have yearly pediatric appointments and make sure we get good measurements to track his growth curve. Health wise Scott is healthy but gets frequent runny noses, wears a hearing aid in one ear due to many ear infections as a baby (he never got tubes and I regret not making the doctor give him tubes), and he is very slightly near sighted but does not wear glasses currently. He has a foot that angles in slightly when he walks but it isn’t very noticeable to others. He used to get a lot of cavities but after his permanent teeth came in he has only had a few. He can brush his teeth but I don’t think he does it thoroughly so every other day I brush and floss his teeth to make sure it gets done properly.
Scott does have a high voice and as a baby he had a high cry. He asked me the other day if his voice will ever get lower, I feel bad for him because I don’t know how to answer. I am guessing he will always have a higher pitched voice than boys his age. He speaks very softly at school but at home his voice level is average.
Scott has tried tee ball, basketball and soccer and did not like any of them even though I think he would do well if he wanted to. He has enjoyed horse lessons when I make him do it. He can do his household chores but he is not too concerned with doing them well, he just wants to get it over with. Having siblings (he has 4) has been very good for Scotty. His siblings are his friends, keep him company when he is scared, teach him responsibility (Scott and his younger brother baby sit the others for short periods of time) and have helped push him to do more. We have spoken very openly and honestly with all the kids about Scott’s limitations because it comes up when they do homework together and Scotty’s little brother and sister are doing harder work than he is. Scott gets extra iPad time when he does hooked on phonics and when his siblings say that it is unfair, I remind them that they would much rather have reading come easily for them than to have extra iPad time.
Scott likes to please people and make his teachers happy. At school he is a very well behaved student and has never caused problems. He has a cheerful disposition and is sensitive. At one elementary school he was teased and picked on so we moved schools and no longer have that problem. I do worry about him getting picked on as he enters Intermediate School this upcoming school year.
Scott loves being around other kids his age that are “normal” but he doesn’t always know how to behave age appropriate. If someone comes up and says “hey Scott what’s up?” Scott doesn’t know what to say and is not comfortable looking into people’s eyes when he talks. I think he still feels unsure of himself because he has had speech problems for so many years. But he loves to tease and goof around like any other boy. He is in Boy Scouts and loves to do camp outs and be outside. He always has a lizard or insect in a jar that he observes. He doesn’t have the best attention span but when it comes to finding insects he has an awesome attention span. He will do it for hours. He is also very fond of his blanket and would probably run into a burning building to get his blanket out. He loves to ride his motorcycle which surprised us. He learned to ride a bike when he was 4. RV’s are another obsession of Scotty. He has pictures of them on his wall and will sometimes bring a camera in the car and take pictures of them as we drive by.
We love our Scotty boy and he has taught us a lot. He is not an easy child and is a lot of work but it’s okay! When he is frustrated I remind him that this is the body he was given and he has to deal with it but he will be a stronger person because of it. We remind him that someday (when we are resurrected) he will have a perfect body and you should see the smile on his face when we tell him that! Their spirits are perfect, it’s just a physical limitation here on earth!
