Diagnosis, Paramyotonia

Today we went to Cincinnati Children's Hospital for a follow-up meeting with Mac's neurologist. Joining us this time were the attending neurologist and a geneticist. The topic of discussion was the findings of Mac's recent genetic test that showed a mutation of his SCN4A genes. His particular mutation is even more rare than the usual mutations found in this rare disease. We've been told that his specific mutation has not been studied or documented. He's one in a million, as we've always known. ;) The geneticist believes, based on Mac's current symptoms, that a diagnosis of Paramyotonia Congenita (PMC) is a fair thing, but has warned that not knowing how his mutation progresses he could very well have symptoms that go along with other aspects of Periodic Paralysis (PP) in the future. We just don't know. We know we have the right diagnostic "family" though.

So, let's start with what we do know:

*This is a VERY rare disease and his particular mutation is even rarer.

*It is a lifelong disease.

*There is no cure currently.

*There is no treatment currently. (Although there are drugs that can be used "off label" to treat symptoms in some people.)

*There are multiple possible triggers that can vary from person to person. (We already know that stress, pain, adrenaline, lack of sleep, sickness, hunger, exercise, getting too hot, and cold are triggers for Mac.)

*There are often nutritional triggers related to Potassium. These vary by person. It could be levels getting too high, low, or even just minute swings within normal that trigger an attack.

*There are no cognitive delays or intellectual impairment associated with this disease. 

*It puts him at high risk for anesthesia (malignant hyperthermia). 

*He could have adverse reactions to other drugs as well.

*It is not a terminal condition.

*It is not considered to be a progressive condition although it may change over time. (Many forums with real life "patients" disagree with this claim and say it can be progressive so I guess time will tell.)

So where do we go from here? Well, we take it day by day. We (his Daddy and I) decided that we do not want to start him on any medications because frankly they are scary! We are not ones to jump to Rx drugs unless there is a clear need and benefit. At 2 years old we don't feel that the potential benefits outweigh the known long term risks of these drugs (Diamox and Tegratrol).  His doctors would have been willing to give him medications, but were in 100% agreement with our current decision. I am starting a detailed journal for his symptoms with the hope to pinpoint more specific triggers. We will do lots more research on our own. We will talk to and contact as many experts on this disease as we can find. We will follow up with the fine docs at Cincinnati Children's Hospital in about 6 months unless something major changes between now and then. And other than that we will continue to do what we've been doing all along: encouraging him to be the awesome self that his always is, navigating the typical toddler/preschooler transition, not limiting his physical activity until he does, trying to keep him safe in spite of being a 2 year old boy who's body sometimes doesn't work int he way he expects or wants it to, and just LOVE our amazing MIGHTY MAC!

Thanks for checking in!

~Mac's "Monny"

(Note: Mac's symptoms, history, and how we got to the point of genetic tests will be a future post. Many people with this disease go decades if not lifetimes without their diagnosis so we feel very fortunate. It was partly my doing that we managed a relatively quick diagnosis and the neurologist even wants us to write up how we got to diagnosis so that is can be published in a neurology medical journal to hopefully help other neurologists easier recognize and diagnose this disease. That is a story for another day though.)  

Want to learn more? Some excellent links: 

http://hkpp.org/physicians/pmc

http://hkpp.org/patients/pmc-faq

http://livingwithperiodicparalysis.blogspot.com/2014/05/paramyotonia-congenita-another-form-of.html

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/907/viewFullReport

Also a great amount of information HERE