Meet the McNeil Family

Meet the McNeil Family

Sunday, August 23, 2015

The Beast That is Dystonia

Waverly has had a difficult week. 

On Tuesday afternoon we picked up her back brace. She looks fantastic in it and seems to grow 4 inches whilst wearing it. She's sits straight and even her color seems to improve. Her orthotist is fantastic and even took the time to help me adjust her wheelchair to accommodate the brace.

Here she is looking all superheroish. Super Wavey!

On Wednesday, she started having "episodes". Initially I thought they were some sort of seizure. She had 10 of them that day. Convulsing, contorting, and lots of crying. She seemed so aware of what was happening and it scared her. This did not seem typical of a seizure. So I started videoing her over the next few days. I sent the videos off to her neurologist (who is on vacation for 3 weeks) and her geneticist (who is the most fantastic doctor and responded within minutes). I also send the videos to some of my go to moms. The response was fairly consistent - Dystonia.

I have heard other parents who have children with Sanfilippo talk about the horrible beast that is Dystonia, but I never really took the time to learn about it. Ignorance is bliss when I comes to dealing with this disease. Take it as it comes.

After talking with a few friends, I started googling and reading. It is definitely the culprit. Fortunately, she has already been on a medication that can help kids with Dystonia and I have only been giving her a half dose. I went up to the full dose and today she has yet to have an episode. Her geneticist is arranging for us to meet with a neurologist who specializes in movement disorders.

A new phase.

In the midst of these episodes on Wednesday, I was about to book a very special getaway for Waverly and I. Matt has a conference in London next month, so we were going to tag along and explore some of our old haunts. I arranged care for Oliver and everything was in place. I just had to purchase the tickets. Sadly, we decided it wasn't the best time to travel with her. My heart wants to go, visit some of our favorite places from our time living in St Johns Wood, and see old friends. My gut kept telling me that this wasn't the right time.

I'm terribly sad to think I may never visit London again with Wavey.

4 comments:

Rebecca A said...

(( Hugs))...wish I could make it all better.

Joanne Huff said...

Shannon I am truly so incredibly sorry to hear that the horror of dystonia has paid a visit. I am holding out hope that until you have a 100% medical diagnosis, that perhaps this is not something that has crashed into Waverly's and your world. Thinking of you guys as you embark on this phase of Q & A, research and, hopefully, discovery that will lead to great relief for dear Waverly very very soon! You are in my thoughts....xxx joanne

Sharon Grew said...

Dear Shannon,

You may not remember me, but I am an old friend from Wavey's Jumbo Nursery days in London. My son Alex was in Wavey's group!

I am still living in London and often think of you and your sweet children. Perhaps one day we will meet again--when the timing, and health issues permit. In the meantime, we will be sending you prayers and positive thoughts from across the pond.

Take care and stay strong.

Sharon

Keli M said...

She looks so big and tall in this picture! Love this beautiful girl.
Always praying for you, can't wait till my next hang out time.
Keli