Today Mac was off to the AFCH to meet with the voice clinic and the ENT.  I never knew that there were speech therapists who were trained to be able to tell how someone's voice worked and ENT paired clinics to diagnose struggles with the larynx. 

When research has come out recently on the Gabriele DeVries Syndrome, the articles talk about dysphonia and abductor type Laryngeal Dystonia.  We knew that Mac's voice has been cutting out, but late spring into summer, he has had changes.  I had hoped that he would not face what was documented in the two cases of GADVES in the articles.  But as he is growing, and with him being 11.5 years old, and his bone age is 13.6 years old he is on the cusp of the starts of puberty.  Puberty cost the two persons with GADEVS their voices. The laryngeal dystonia worsened.  It seems as Mac is following their road. Thank you to Mrs. E, his Lancaster School Speech Pathologist for the video this summer, where we caught his motor movements and his croaking and squeaking.  It was incredibly helpful for the professionals to see just how complex this can be somedays.  Of course today he had a good day and only rarely croaking or losing his voice, or just becoming garbled. 

Today Mac was brave.  He helped the speech pathologist put the tube down the Bitty Baby's noise to make a video of the baby's vocal cords.  Mac then sat on Dr. Dad's lap, arms tucked in holding Furry tight while the nurse held his head still  as the laryngoscope was  passed down his nose to look and record while Mom coached the "eeeee" "eeeees" to move the epiglottis out of the way so they could video his larynx, and his swallow.  The good news, the dystonia has not damaged his vocal cords.  They could see a warping on one side, but they were working well today.  

Dysphonia, Facial Dystonia, Oromandibular Dystonia.  Abductor and Adductor type Laryngeal Dystonia. We still seem to be adding diagnoses to his long list.  I need to get his list updated, but do not want to count them.  

Mac rocked this, I cannot believe he didn't fight us.  The 3 COVID tests in the last 10 days were awful to get done and he is strong when he fought me and the nurses.  But this scoping was so much harder and took much more time.  I am so proud of Mac and off to Target for a well deserved distance toy reward.

We are learning and hoping and praying that the DBS helps stop the progression and saves his voice.