This has been a difficult period for Lovina Eicher and her family with what just seems like a parade of pain over the past year from illnesses and house fires to the Muscular Dystrophy diagnosis for two of her daughters. And there's no guarantee more of her children won't get it, which hangs over everything. I'd say her oldest, Elizabeth and Susan, are likely out of danger.
Right now Loretta is clearly the one getting the worst of it as her condition seems to be worsening with surprising speed. It's probable that both Verena and Loretta will be confined to a wheelchair by the time they are 20 or 25. This type of MD is especially prevalent among the Amish of northern Indiana. We are now pretty certain that Lovina and Joe Eicher are both carriers of the recessive gene that unleashes the disease.
Here is a Q & A I conducted with one of the premiere experts about this disease.
Welcome to amishcookonline to Jerry Mendell! He has a long list of credentials:
1) Q: In layman's terms what is Limb-Girdle MD and how does 2A differ from other types?
Dr. Mendell: It is important to understand that LGMD is a confusing term that has a historical basis. At one time back in the 1950s there were only a few dystrophies known and everything that was not Duchenne, FSHD, or myotonic was labeled LGMD. As we matured scientifically of course many other muscle diseases were discovered and this includes many of the diseases labeled LGMD. So distinguish the LGMDS numbers and letters were put on the conditions in the order that the disease was linked to a chromosome or gene. Although LGMD implies that the 14 or so different types are somehow related that is a mistaken concept. They are all different and for example LGMD2A has nothing to do with LGMD2B, etc. There are overlapping clinical signs between LGMDs but that is true for many muscle diseases.
2) Q: What is the long term prognosis for someone with limb-girdle?
Dr. Mendell: Again, here is the temptation to lump the diseases together. The prognosis and time of onset is disease related. LGMD2A has a relatively good prognosis for prolonged ambulation and maintaining breathing capacity. Many patents will be wheelchair dependent late in the disease process after 15 or more years.
3) Q: Are there any promising treatments on the horizon?
Dr. Mendell: For all of the LGMDs we believe that gene replacement therapy is the most promising method of treatment on the horizon. For LGMD2D, we have had particular success and at some point we will apply these principles to LGMD2A.
4) Why are the Amish seemingly especially vulnerable to this type of MD?
Dr. Mendell: LGMD2A is inherited as autosomal recessive disease meaning that both parents must carry the gene to pass it on to their offspring. Because the Amish are often closely related, it is more likely that individuals marry who are carrying a similar gene makeup.
5) Q: Any websites people can go to to learn more?
Fortunately there is an organization devoted specifically to research for LGMD2A or Calpain deficiency. It is known as Coalition to Cure Calpain 3.