complexities of CHARGE syndrome

The CHARGE Syndrome Foundation recently published a "professional packet," which is a much needed publication since the syndrome is rare and complex. I am so grateful for the geneticists and professionals who are so dedicated to providing accurate and helpful information to the families and their support teams. This wealth of information and support is a tremendous asset.

However, I was just reviewing the documents and preparing to print them for Max's various team members. And all of a sudden, it felt like the weight of the world was on my shoulders. It's not anything I haven't read before, but sometimes it just hits me like a ton of bricks. It truly amazes me what Max endures and has to overcome each and every day.

Excerpt from the American Journal of Medical Genetics:

Children with CHARGE syndrome are truly ‘‘multi-sensory impaired,’’ having difficulties not only with vision and hearing but also with the senses that perceive balance, touch, temperature, pain, pressure, and smell, as well as problems with breathing and swallowing, eating and drinking, digestion, and temperature control. Children with CHARGE present a unique array of behaviors that are frequently reported as ‘‘challenging’’ [Hartshorne and Cypher, 2004], and it is true that behaviors in this population can be extreme, persistent, and apparently paradoxical.

Significant problems with the balance sense will inhibit the development of effective body language, since postural control, equilibrium, muscle tone, and motor coordination will all be
impacted [Abadie et al., 2000]. An absent balance sense is also likely to have a negative impact on the development of memory, the effective use of vision (especially fine central vision), and the processing of auditory input, all of which have a cumulative impact on speech and language development [Colby Trott et al., 1993].


Yes, this syndrome is complex...to say the least. Even though I think I fully understand that, I am still in denial (it's a lovely coping tool) about the extent of his future issues. Behavior is one of the most concerning. If I really stop and allow myself to think about it, I am simply terrified on how I will handle the complex behavior challenges common with this syndrome.

And when he goes to school, how will his needs be met? With me and his team, he has always had intensive one on one intervention...how will they match that level at school? Will he have the right supports...will he actually be able to participate? Will he ever really be able to communicate with the outside world? Will the world treat him with kindness and respect? What will happen to him if something should happen to me? Will he reach his potential? Will he be happy and satisfied? Will I be able to manage his care long term at home?

I am overwhelmed with emotion as I review this packet. So grateful that it exists...but it also is such a harsh reminder about the complexities of this wonderful world of CHARGE Syndrome.

I have so much to learn. Any time I start thinking I am "catching on," I realize just how little I know.

So for tonight, I will take a deep breaths and try to remind myself to live one day at a time. And in hopes of distracting myself, I am going to put aside reading any more of the handbook tonight and instead work on a few fun photo projects.

And if that doesn't work, I will play the "mama" video a hundred more times!