I don't think I ever mentioned that we saw a genetics specialist. It is pretty standard practice to have genetic screenings after autism diagnoses these days. Our first appointment was actually last November. They took a pretty extensive family history and did a physical exam of Parker, neither of which were too exciting. They ordered blood drawn for a chromosomal screening to check for any anomalies that may be indicative of autism. That test revealed one small duplication and one small deletion of genetic material. Both were small enough that it was extremely unlikely they had any influence on his diagnosis. The next step was to have those anomalies compared against Jimmy and myself and it was discovered that each of us carried one of them. This made it even less likely that they mean anything in regards to his autism. The final step of this process was to meet with a medical genetics specialist. She reviewed all the previous blood work and did a complete physical exam. It was fun for me because I got to put Parker in a cute little hospital gown!
The other thing we have done in the last few weeks is related the MRI Parker had in December. The initial results were normal, but we were told that his brain stem extended a little further down than normal, but that it was nothing to worry about. Earlier this month we were at Parker's 30 month well-child visit and his primary doctor expressed concern about his MRI results. She told us he had a Chiari 1 malformation, which is not as benign as the neurologist made it seem. She referred us to a neurosurgeon because they specialize more in the physical aspect of the brain. Chiari 1 develops as the brain and skull are growing so symptoms often are not present until later childhood and adulthood. The malformation exists when part of the cerebellum extends lower than it should towards and into the upper spinal canal. Below is an image from Parker's MRI that shows this malformation. You can see the pointed part of the brain circled.
If the brain is squeezed too tightly it can cause many issues with balance, motor skills, vision problems and more. You can learn more about this and other types of Chiari malformations HERE. We answered a lot of questions regarding specific symptoms and then met with the neurosurgeon to talk about the specifics of Parker's scan and Chiari malformations in general. (On a side note, he didn't look like Dr. McDreamy and that bummed be out a bit ;-) He offered a lot a great information and really eased my worries! Good news first, Parker does not seem to be having any symptoms at this time and his brain does not appear to be getting squeezed. There is also room for spinal fluid to move on all sides. More good news, 60-70% of people with type 1 never experience symptoms or complications! We will have annual follow-ups with a neurosurgeon and another MRI in 2 years to see if anything changes as his head grows. There isn't necessarily any bad news right now, just uncertainty (which we have gotten plenty used to this last year.) Worst case scenario, if it gets worse he may need to have surgery someday. I opted not to discuss all the possibilities with the surgeon since there are so many variables. Best case, it remains the same or recedes and does not cause any issues. Only time will tell.
We are continuing to truck along with therapy in between all the other stuff. We still have four appointments each week, but are seeing so much progress! His eye contact has become almost a non-issue. He regularly looks all people, even strangers in the eye. He is even starting to express shyness, which means he realizes people are noticing him! Transitions are also becoming easier for the most part, but I do think he is starting to experience separation anxiety.
His largest strides in recent weeks are in the area of communication. He has been developing many word approximations (consonant and vowel sounds that associate with certain words like "ah da" for "all done.") We have been working on sign language for a long time as well, but he has not used it spontaneously with any consistency until this week. He has started using "please" on his own and in appropriate situations. This was an exciting milestone because it the first time he has communicated a specific word to us! We caught it on video this week and it is adorable. The only issue now is saying "no" when he says "please." He has also been consistently signing "my turn," but we don't use that one as much in every day play.
Lastly, while in speech therapy today, he said "more." He didn't repeat it for me, but I trust he will soon! There is so much talk about the language explosion and I feel like we are getting a little firecracker right now and I am just elated! I am so proud to be Parker's mom, he works so hard and just keeps swimming!
I hope you enjoy your weekend and I hope we have more great news soon!
