We had appointments for Gannon on Wednesday at the University of Iowa.
I debated for a long time whether or not to keep the appointments as we were continuing care through Milwaukee but I’m so glad I kept them.
The first appointment was at the center for disability and development. We first saw Dr. Reasoner who is a developmental pediatrician. We had an hour long appointment with her going over every single little thing I’ve ever noticed about Gannon. It was EXTENSIVE.
Then we met with a physical therapist who evaluated Gannon’s fine and gross motor skills for about an hour. They both met, compared notes, and came up with a conclusion (shared at the end of the blog post)
That leaves us with pending appointments with neurosurgery, genetics, neurology, urology, gastroenterology, an echocardiogram of his heart, fitting for custom leg braces, and follow up with the center for disability and development. WHEW!
Again, Dr. Reasoner strongly suspects a connective tissue disorder at a minimum, likely a form of Ehlers Danlos syndrome (there are 11 kinds) considering the family history. We were also reminded that there is likely a cause for his “constellation” of symptoms and as random as they seem, there is an answer, there is a diagnosis to be found. Neurology even suggested that there could be a combination of disease processes going on. This is both worrisome and encouraging. I would love for his muscle tone and other issues to be benign and random but realistically, I need to put a name on this and there are two many pieces to the puzzle that I’m sure will all fit together one day.
We also learned that Ehlers Danlos can be passed down genetically, it can be random, and different affected members have varying expressions of the disease. Could it be from me with my insane stretch marks literally all over my body from the day I turned 10? Could it be Craig who had issues with hip dislocation at birth? Could it be from me who meets the hyper mobility Beighton scoring criteria? Could it be from Craig who also meets the criteria? Could it be from me with Ehlers Danlos on my side of the family? We don’t know yet and only genetics can know.
Where are we with Milwaukee? We will be in Milwaukee August 10th for the muscular dystrophy clinic and consults with neurosurgery and neuromuscular specialists and a follow up with Dr. Sood, the GI doctor who brought us to Milwaukee to begin with. We will keep our genetics appointments, but other than that, we are switching to U of I. The drive is too far and Gannon tends to be a bit car sick sometimes.
Neuro surgery “triages” patients based on their necessity to be seen – Gannon got in on next Wednesday. That makes me suspicious they will want to remove the fibrolipoma from his spine. He will have an echo of his heart too because Ehlers Danlos often has cardiac involvement as well.
Another symptom we are looking into is called micrognathia. It’s essentially an extremely small jaw. Here’s a picture:
And here’s my Gannon the day he was born:
Another star in the constellation – could it be something or nothing – we don’t know.
So that’s the exhaustive summary of all the information. Only genetics can really tie the knot on this bow. They are our answer and hopefully we will know more when we see them August 10th. In the meantime, Dr Reasoner typed up a nice little summary for us:
Number one: neurosurgery consult regarding the fibrolipoma of the filum terminale.
Number two: echocardiogram to look for any changes consistent with a connective tissue/collagen disorder.
Number three: genetic consultation and genetic testing to target A likely underlying disorder probably a connective tissue/collagen disorder.
Number four: AFOs (leg braces) are recommended as a temporary measure to help with his gait stability and fall reduction given his joint hypermobility.
Number five: continue AEA developmental therapies. He would benefit from additional private outpatient physical therapy services at this time to work on trunk strength and joint mobilization.
Number six: recommend labs TSH free T4 and cortisol as well as an endocrine consult.
Number seven: can return through Nuro developmental clinic in six months for a full team assessment.
Thanks for reading friends! Also shout out to my mom for riding with us on Wednesday so I could sleep on the way home and get to work on time 🙂 she’s the BEST!
So glad you are making progress toward a diagnosis. It won’t treat the problems but it will help you find the appropriate treatments. Unfortunately all this sounds hugely expensive !
So glad you are starting in the direction of answers!! You are such a great advocate for Gannon – other parents just give up when faced with the plethora of doctors/therapies/tests. So glad mom could go with you…there are major benefits to living close to a mom who is retired!!!
All the information was hard to absorb. I wish my best thoughts for Gannon. The picture with Grandma was just the sweetest.
Great job (albeit exhausting), staying on top of Gannon’s plethora of health visits and evaluation!
Take good care of you too 🙂