Myotonic Dystrophy – A preventable disease – Why HealthCare Reform is Needed

Christopher M is a happy contented 22-year-old man. He functions at a 2-year-old level, requires 24/7 supervision, has multiple medical problems, Brain, lungs, GI tract, Heart, Muscles. His medical costs to date are over $2 million dollars and education and other support over $1 million. Christopher M has congenital  myotonic dystrophy a neuromuscular disease with no cure, no treatment except symptom relief.  This congenital form is caused by the conception and birth or a child to a mother who has the adult form of the disease. Whats has even more impact is that each generation with myotonic dystrophy the children get sicker and have more and more severe symptoms.

Both the these diseases DM1 and the congenital form of the disease (CMD) can be prevented by using Pre-Implant Genetics (PGD) along with in vitro fertilization  (IVF) for those who wish to have a health child. Myotonic Dystrophy is preventable in most cases, except where religious belief would interfere with IVF.


A very rare side effect of Myotonic Dystrophy is the profound and subtle issues with the brain. It causes apathy, lack of motivation, depression, and a general profound fatigue that prevents a proactive approach by may people who suffer from the disease. That means that patients with this disease in many cases do not have the motivation to strongly advocate on their own behalf. Help is needed.

That help in part is funding for a proactive national registry and outreach program that would identify all the patients with Myotonic Dystrophy, educate them and give options for reproductive health. this would help prevent the disease and shrink the patient population. The current registry has less than 2% of the myotonic dystrophy patient population identified. And there is no outreach or education by this registry. This is a Root cause medical initiative (RCMI), find identify and educate to eliminate the root cause where possible.

Currently there are numerous drugs in develoment to help sufferers with this disease. The cost of each drug is over $100 million each to bring a drug to market. The FDA wants drugs to be safe and effective, and they make sure it is very much so. The companies have to jump through hoops to insure they meet FDA criteria. And that costs a LOT.  The cost to develop a patient registry and outreach program and IVF for those who want them. Much Much Less. Seems like a simple solution that would help immensely.

But the healthcare system rewards and pays for drugs. It does not pay to reduce the cost for a disease. If each of the persons with congenital myotonic dystrophy have bills in the $3 million range then the cumulative cost of the congenital version of the disease in the USA is about $10 billion dollars (based on 3500 individuals 1/100,000 incidence). If a registry and outreach program reduced this to $5 Billion that would be great but there is no identifiable payer source for this or tracking mechanism. If a new drug is developed and costs a bundle there is a payer source for that.

Whether a drug is effective or not a new strategy to reduce the myotonic dystrophy patient population through individual choice would be extremely helpful to the families, to the patients, and to the healthcare system. By identification and education healthcare expenditures would be optimally reduced. The choices would still be with individuals. The above chart outlines this new strategy.

This strategy works for patients with DM. Currently only a very small number of individuals proactively help themselves. Indeed only 2% have sought out the registry. Less than 1/2% attend the national myotonic dystrophy conference put on by the myotonic dystrophy foundation. To reach the untold thousand of silent uninformed suffers more is needed.

Its clear that preventing premature births and suffering by individuals would be more beneficial cost wise. By identifying and educating individuals and allowing them to make choices the new strategy begins. Its clear that would be a lower cost pathway than drug development and lifetime costs of pills or injections. However a new framework of cost allocation and recovery would go a long way to properly allocate scare resources. That’s why healthcare reform is needed. Only with a new framework, a new paradigm can the root cause of the disease be identified and reduced, perhaps reduced to near 0%. Myotonic Dystrophy is a preventable disease, by implementing a RCMI the impact would be much less, the cost much less, and the suffering much less. Its up to all of us to help lessen the impact of this beast of a disease,


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