Autism, Dup7, and more

The Road to Diagnosis

What have we learned in the last year:

I feel like we have been given a crash course in Autism 101. Luckily, Brent and I have been very fortunate to have found a fantastic diagnostic clinic right here in Mobile Alabama. It is the University of South Alabama Developmental Diagnostic Center. With it has come great doctors and staff. Ready to answer an questions you might have.

In order to get an appointment you will need to have a referral sent to them from your pediatrician. The diagnostic process feels like a very long tedious journey. It all starts with another evaluation ( if you are just now starting this process be prepared for lots of initial evaluations!) Since Sean, again showed significant developmental delays, he was referred to the specialist Dr. Hans Swingle (who is AMAZING!).

Dr. Swingle was (and is) an incredible wealth of information and gave us an initial diagnosis of Global Developmental Delay. With that being said he gave us a list of appointments to make to be sure Sean did not have another underlying medical issues contributing to his delays. These appointment were:
1. Ear Doctor
2. Eye Doctor
3. Neurologist ( for MRI and EEG)
4. Genetic Testing
5. ADOS ( Official Autism test)

I knew Sean’s eyes and ears were fine but we did those appointments out of formality. However, I was more concerned about the neurology test because Sean had started to roll his eyes in the back of his head and I was very concerned about Seizures. His EEG and MRI did come back abnormal unfortunately. His EEG did not show seizure activity (yay!) but it did show slower then normal brainwave activity. Then his MRI showed fluid at the base of his brain with an underdeveloped cerebellum. Our neurologist, Dr. Lopez, has assured us the fluid is just that, fluid. SO hopefully in the future the fluid will not ever have to be drained, but it is something to keep in mind.

Now that we had all this new information to process, it was time to go to UAB Genetics for the genetic testing. That is a pretty straight forward appointment consisting of visual evaluation and interview with Brent and I about family histories, ending with blood work.

After about 4 weeks I finally heard back from our geneticist . Sean’s results came back with a rare syndrome called 7q11.23 Micro duplication Syndrome, which is an addition of genetic material in his chromosomes. (Which is not the same a Williams Syndrome, which is a deletion.) Remember all the previous neurological info we received? Well those are all signs of the 7q11.23… ( WOW). And yes, Autism is associated with this particular diagnosis as well.

Lets now fast forward to May 2018 for Sean’s ADOS. Again this is another evaluation. The doctor sits with Sean and plays games with him, engages with him, and sees how he responds to her. WE left that same day with Sean’s autism diagnosis. I think since I had a total of about 9 months to come to terms with possibly hearing this, I took the news rather well. It still stung, I cant lie, but after everything else at this point it was the easiest to hear.

(media image from Autism Mag Instagram feed)

At this point we do not know where specifically he falls on the spectrum due to his age. Since we have been so proactive he is too young to have a diagnosis with a level. We will have to take him back for a follow up evaluation next May (2019).

I know this is a ton of information and I have tried my hardest to shorten it for you all. Again this is strictly Sean’s version of autism and set of diagnosis’s. Everyone’s story is different and unique that falls on this path. If you have any questions or want to share some of your story, please leave a comment below! I would love to hear from you! I hope you all have a fantastic day!!

Love Always,
Katlyn- A Gulf Coast Mommy

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