Sunday, October 2, 2016

Updates are us!

Oh my, it's been so long since I've written on my blog. We have many updates for you!

The genetic test for Max came back in July and his official diagnosis is RYR1 Congenital Myopathy. Now we know a little more what we could expect. He has a medic alert bracelet on the way for Malignant Hyperthermia. He has an appt with pulmonary to test his lung function again, and also a sleep study scheduled for January. He also has an MDA full clinic appt early in the year- which will be several hours long. His heart should be spared...his lungs maybe not (hence the lung appts). RYR1 Myopathy comes with a major fatigue issue. Hmmm. Mom IS able to recognize fatigue in her child! And, RYR1 Myopathy alters the calcium release in your muscles, pouring out too much...and messing with muscle contraction. Hmmm...Max turns into a rag doll in 12 minutes on the playground!

The National Institutes of Health (NIH) in Bethesda is currently working on a trial testing an antioxidant on RYR1 patients and we have applied for that and are waiting to hear back. They asked that my husband and I be tested for the variant. Our genetic tests came back a few weeks ago, and I have the same variant as Max. I am his carrier. But there is also a little catch. I have to wear a Malignant Hyperthermia bracelet too, And, having the variant is probably the reason why I'm so bad in the heat. And another back and chest are both going crazy pushing Max's manual chair. To the point where I really can't push him anymore. I'm having muscle spasms that are very intense and last for hours. I have 2 appts in one day scheduled for November with Max's Neurologist.

Max and Mimi have been busy homeschooling. Our favorite subject of 5th grade right now is...wait for it....Math! Thank you to Teaching Textbooks for teaching my son! It is awesome. I am so happy we ordered it for him. Mimi is still five and is reading very well. I think she is at a mid-1st grade level. She completed kindergarten at home last year and is well into her first grade work now.

Max has also started therapeutic horseback riding at Greystone Manor here in Lancaster County. Another win-win! Max could have hip contractures in his future...soooo we hope riding helps keep that at bay it's wonderful for many other aspects of therapy.

We have also become involved with the Muscle Movement Foundation which pairs people with muscle disease with a sports team. Max became an Honorary Captain and Muscle Champion of the St. Elizabeth High School Viking's Football team this season! Rob, the founder is about the nicest guy in the world and we are so happy to know him.

Max has also enjoyed volunteering with our local MDA chapter and  participated in Lock-Up this week in Lancaster. He was able to give about 5 short speeches to area business people in attendance. He also met his new gang...the Lancaster City Firefighters:) We hope to get together with them very soon and they gave Max an open invitation to the station.

As a family, we are adjusting to the new normal. We are flying by the seat of our pants as we learn to adapt things for Max. We hope that if you are healthy, you continue to realize that you really are walking on air. We are challenged every week with things like our dishes being too heavy for Max, or needing all cups with lids, or easy to wear clothing. We are enjoying though, making new associations and being the best we can be, despite these ongoing challenges.

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