What are the Treatments for Rare Diseases?

According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment.
During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined.
For many patients with rare diseases, there is no specialist. Doctors simply treat the symptoms of the disease. For most, this means seeing multiple specialists to address various needs. This is the same for Abby. The closest we have to a specialist with CCMS is Dr. C., who is the only person to ever see what CCMS ribs look like. She sees specialists for pulmonary (2!), GI, ophthalmology, orthopedics, and cardiology. When we add therapies, Abby sees 11 different people to address symptoms related to her rare disease.

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Bath Time Photos!!

As promised, here are lots of photos of Abby's first bath. Caleb was supposed to be in bed, but the bathroom is right next to his room... "I'm not too sure about this..." Once she learned how to splash, she was all smiles! Her first good hair wash! Gotta protect the trach! She really liked getting water poured on her head. It was cute! Smiley (and bubbly) for Daddy while he dried her off. All clean!! (Note the Lysol wipes in that last picture. They are NEVER far away!)

Cerebrocostomandibular Syndrome

If you happen to pick up the latest Reader's Digest, there is an article in there about Piper Breinholt , a four year old with CCMS. If you've been around here a while, you'll remember wayyyyyy back when we first received Abby's diagnosis that I was able to speak to Piper's mom, Reagan. The article is more about their story and not as much about the ins and outs of CCMS, but I think it's probably enough to get some people googling it and I'm hoping a few will end up here. Every once in a while, I give a blog post the title of Cerebrocostomandibular Syndrome so that it would show up in Google. My ever-present hope is that people will stumble across my blog and 1) be encouraged by the hope we have in Christ, 2) feel a connection with someone in a similar situation as them, or 3) get excited over the miracles that have been performed in Abby's life!! (a combination of all 3 is great too!) :) Notice that it's not to get famous and it ...

Imagination Movers Photo Recap

Seriously, The Imagination Movers were so much fun! They played lots of their own music, with some classic rock mixed in for the adults. There were also quite a few jokes and references to Baltimore, which was kind of fun. The whole night centered around this robot named Rock-o-Matic, or "Rocko." This is Mover Scott, and he wears Wobble Goggles that help him see new ideas. Caleb and Abby have a pair of goggles too. :) There are 4 main Movers that are part of the TV show, but they have 2 extra movers to play instruments and do back-up vocals in their live tour. Abby finished up her feed before the show started so that she would be free to dance! My dancing queen did NOT want to sit in my lap. The row in front of us was empty, and that is where she stood almost the entire show--dancing the night away. My Imagination Movers Caleb did his share of singing and dancing too. He knows m...

Life as a Leach

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