Sarah has always been "special". She was a fussy infant and never seemed happy. As she got older she was very slow in learning to roll over, sit up, stand, etc. She was still within the normal ranges, but in the latter end of them. I was very glad that her birthday is in November so she would not start school until she was almost 6 as I didn't think she would be ready. We put her in a full year of preschool at Primrose and that's when I saw really how far behind she was. Her wonderful teacher spent most of that year trying to get Sarah to learn how to use a pair of scissors and by the end of the year she could finally cut something out (although far from good) and she could write the letter "S". All of the other kids in her class could write their first and last names. Sarah's letters were all over the place, never in the lines at all and barely recognizable.
She has always been very clumsy - tripping over nothing, walking into stationary objects, dropping food when eating, or just dropping anything in general. One of her first sentences was "be careful" as that is what she has always heard from me. I was petrified to let her run anywhere but on grass as she would certainly fall and injure herself. Her injuries were, and are, daily. She did finally learn how to peddle a bike when she was 5, but will most likley be on training wheels for a few more years.
The pediatrician never saw any reason to worry about my complaints of her being behind as she was always in the "normal range".
At my son's 10 year checkup with the pediatrician in January 2008, he realized how flexible Matt still is. He had him do quite a few different maneuvers, one being to touch his elbows together behind his back, which Matt was able to do well. He then said "I think he has Ehlers-Danlos Syndrome", of which I totally went in shock upon hearing. I ran home and started researching. David was diagnosed as having EDS - Hypermobility type in March 2008. This means that each one of our children have a 50/50 shot of having EDS. As of right now, we know that Sarah has it and are pretty sure Matt & Becca do also, but do not have the actual diagnosis as of yet. EDS is extremeley underdiagnosed, but it is believed that somewhere around 1 in 5,000 have this. I've found that many people have never even heard of this. David has had this since birth and at 37 years old finally understands why he dislocates his shoulders so easily and why his skin is stretchy. No one in his birth family have known that they have/may have this disorder. Only a geneticist can officially diagnose EDS. If you think you or someone you know has this, please contact a geneticist as soon as possible. They are difficult to get into and will take several months.
Sarah saw Dr. Bodurtha at MCV genetics department in April, 2008 and received her diagnosis. Dr. Bodurtha was worried about Sarah's motor skills and ran Fragile X and CPK tests on her and mentioned several other things that were just way over my head. I came home from the appointment just as stressed out as I was before. I was hoping that having the diagnosis would help me to get a 504 plan in place for her, but was now even more worried that the geneticist was worried about the motor skills problem. I hit the internet again and threw in some extra words to search for from the conversation with Dr. Bodurtha. I managed to finally learn about developmental coordination disorder and Dyspraxia (which really seem to be the same thing, just different names). You can not imagine the relief I felt at seeing everything about Sarah described perfectly. I then called the pediatrician's office and asked what we do to get her tested for this. Well, you have to see a pediatric neurologist.
The neurologist could not fit us in until September, so I was quite upset. A few days later they called and had a cancellation and could see me on Monday if I could make that. I said yes and started scrambling for referrals. The pediatrician's office was kind enough to get it to me that day. Back to MCV we go to the neurology department this time and talked to Dr. Pellock. He was very kind and had Sarah do all kinds of exercises and decided against doing an MRI or any other testing on her as he thinks it is just developmental. To quote him "her brain knows what to do, the muscles are strong enough to do it, but the message doesn't quite get to the muscles as it should". He wants her to start occupational therapy and speech therapy. Her speech is pretty decent, just a bit unclear, but he said the speech would help with her eating problems too. I told him I was very worried about her schooling and that she would not be able to keep up next year and she cries alot this year. He said "she does qualify for a 504 plan, and it will be set up."
We now have appointments for speech & occupational therapy with Children's Hospital in May, 2008. I am hoping that I will learn more at that time. This has been a very long battle for this school year. I've met with school officials and they will put a plan in place for her for next year once we have more information, but for now they have just spoken to each of her teachers to explain the situation and what they can do to assist her. There is a link on the front page to a pdf file for some excellent strategies for teachers to use to assist a child with these disabilities. No one will ever do anything for your child unless you fight and make them listen.