Muscular Dystrophy Diagnosis Roulette

Sometimes MD can be confirmed with a blood test. But sometimes, the MD form can not be fully identified without a genetic test. Max falls into that second category. We know from his EMG and muscle biopsy that he has a fiber disproportion myopathy- but it's not known what the exact diagnosis is. Some people with MD never know what type they have.

The scary thing about not knowing the exact type, is frankly, not knowing the progression of the disease. So with each type of say, Limb Girdle Muscular Dystrophy, you are spinning that roulette wheel in the clinic office and your doctor may walk in and say, "IT IS X!"

This happened (or actually didn't happen) last week at Max's clinic appt. The free Limb Girdle genetic test he took through the Jain Foundation and Emory Genetics in September finally came back. It didn't tell us what Max had, but said that he is a carrier of two types: one is a form of MD that only one man in Turkey has (!), and another gene which is Limb Girdle 2B.

I have done a lot of MD research - but the Emory Genetics report had too much medical terminology on it for me to digest in 1/2 a minute with everyone present. Usually I read MD type descriptions in the comfort of my home with a highlighter.

Looking at the report my mind raced, "Oh Dear God. Does he have these types?! I know 2B is a better one to have...but what about the other one? Does he really have this or that type and if so tell me right now if there is heart and lung problems and the life span." The MD Diagnosis Roulette.

That is what I was thinking...but Max's Dr. explained to me that Max didn't have either type...He could have another Collagen gene defect that wasn't part of the Emory test- as he originally thought, so we need to do the big genetic test.

People say you should not Google medical things, but for times like this, I like to have background knowledge. If you say, researched all the Limb Girdles if your child is being tested for them...you would "know" the progression as soon as the Dr. spilled out that your kid has that one. That's my reasoning anyway. That deer in the headlights feeling is what I try to avoid. But that's just me. I sort of figure that if I know progression as soon as he says it, I can then ask educated questions that enrich the appointment. That may sound crazy, but it also helps me understand what they are talking about, and helps me get more out of the appointment.

We hope to get insurance approval for the 70 something gene MD genetic test. Cross your fingers we can provide the blood or spit for that one, and that we have patience to wait many many months for the answer... then we'll spin the MD roulette wheel yet again.

Sigh.