Sunday, June 22, 2014

Happy Birthday!

Caiden turned the big TWO yesterday! To celebrate we went to my mother-in-laws and had a tiny party for him. We originally were going to take him to the zoo but it was too hot. Instead we got him a cute little cake and he got to open presents and play out side. We were nervous how he would do transitioning but he surprised us!

He was afraid of everyone singing happy birthday and wouldn't even touch the cake to take a bite, but in the end I was glad not to have to deal with a sugar rush/crash. After cake and presents we took him outside to play with the water hose. I expected him to freak out, which he did, but once he realized he could splash in the bucket we had pulled out, he had a blast! At the end of the day he was soaked and thoroughly exhausted.

He certainly had no idea what was going on but overall I think he had fun, so it was a good day.

Unfortunately, as fun as his birthday ended up being, it was overshadowed by a sobering reality.

Thursday was Caidens evaluation with the developmental pediatrician. I was nervous that when we got there he would behave differently, like he does in each new environment. And I was right.

Caiden, while he gave the nurse taking his measurements a hard time, he loved the doctor. He was even throwing a ball they had in the room back and forth with her. She explained that he has all the traits to diagnose him with autism, but his eye contact was too good. She wants to see him in another few months to reevaluate him to see if anything changes.

However, though we dont have an official diagnosis yet, we did get a few answers.

Caiden has something called hypotonia. Basically, he has low muscle tone and the muscle he has is weak. This is why he still cant kick a ball, crawls down steps and has trouble feeding himself. The good news is that it can be improved with physical therapy. The bad news is, its likely caused by cerebral palsy.

Cerebral palsy is pretty common among preemies and is caused by trauma to the brain. Most preemies are scanned for brain bleeds shortly after birth due to the trauma the birthing process can due to an underdeveloped baby. Since he was born past the cut off date at our hospital he was never checked for them. He now needs an MRI to confirm or rule it out.

On top of that, he has a severe developmental delay. Though he's now two years old, his development is equal to that of a 12-14 month old. We knew he was behind since he's nonverbal, but just how far behind he is was a huge blow.

Even more surprising was what the doctor believes is responsible for his delay: fragile x syndrome.

Fragile X syndrome is "the most commonly inherited form of mental retardation." Its caused by a mutation on the X chromosome and is seen predominantly in males. Its characterized by problems such as developmental delays, behavioural and socual issues, hand flapping, and hyperactivity. Those with the full mutation tend to have very distinct facial features including a long face, protruding ears, prominent forehead and chin, and a large head.

Caiden has a seriously large head. It measures 52.2cm and is above the 100th percentile for a three year old, never mind a two year old. His ears are set lower than normal, and he has a large forehead. If you google image search fragile x there is a picture of a boy, probably 3-4 years of age, and if you can get past the obvious differences (like age and hair color) Caiden bears a striking resemblance. Caiden could be the poster child of this syndrome and it hasn't even been confirmed yet whether or not he has it.

If the test comes back negative, my husband and I have already agreed to have it run a second time. There's no way, after looking at all the evidence, that he doesn't have it.

Along with genetic testing and the MRI, the doctor ordered a heap of other tests along with physical, occupational and speech therapy. We are waiting on referrals and appointment confirmations, so we should finally have answers soon.

Since we found out about these problems, we have told friends and family, and though most are behind us and will support him no matter what, some are hesitant. We've heard "I'll pray for him" countless times. Its not a matter of religion, but it insinuates that he's broken and needs divine intervention to be "normal". This is one of the most horrible things anyone could ever say.

Caiden was born this way. Even if we could change him so that he was "normal" like everyone else, we wouldn't. Yes we want him to be able to speak to us and play with other kids, but whatever is "wrong" with him makes him who he is. If you were to take away his delay overnight, he wouldn't be Caiden in the morning.

We don't believe that a disability is the end of the world, its the beginning of an entirely new one.

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