What is the cost of Congenital Myotonic Dystrophy tops $10 Billion Dollars in USA?

Posted on February 2, 2016 by super_admin

Medical Cost

When my son was born I had no idea that he would be an Over 5 Million Dollar Man.But he was born as a premmie and our medical bills started even before Day 1. The major cost of the disease concentrations on respiratory symptoms. For young people with this disease a strong effort is made to stabilize and improve respiratory function. The recovery period for individuals with this disease is very lengthy.

Moms confinement before delivery                              $200,000
85 day NICU stay                                   $1,400,000
Ear Tube Placements (8)                                                 40,000
Special Education Grade 0-6                                       200,000
Heel Cord Surgery                                                            25,000
Special Education grade 7-14                                        210,000
Caregivers state of Ca 2012-2016                                 450,000
Hospitalization 2010 (80 days)                                       875,000
Hospitalization 2015 (79 Days)                                      850,000
Hospitalization 2016 (89 days)                                       950,000
Cardiac Monitoring                                                            40,000

Currently we are at US$5.2 Million in Hospital and Medical Care for him. The insurance has picked up all the costs incurred, but still its a high price.

In the USA the incident of congenital myotonic dystrophy is 1/100,000. That computes to about 3,500 individuals with the disease. At a five million dollar overall cost the math computes to an overall projected cost could top 18.2 billion.

If the 5 million is a outlier the cost would still be in the neighborhood of $10 billion overall cost. That’s a very high cost to society.

Common Antibiotic Might Help Treat Myotonic Dystrophy Type 1 – Promising Therapy

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Posted on January 30, 2016 by super_admin

In a study published in December 2015 in a peer review journal researchers from Japan and Poland found that a commonly used antibiotic might assist in the treatment of Myotonic Dystrophy. This is a sort of interesting discovery as there is no treatment identified to treat the disease. Treatment now consists of reducing symptoms. There are several other approaches that are in development maybe as soon as the end of this year. Here is a link to another promising therapy as well Cagumycin

The researchers first began by screening antibiotics. In a screen of 20 antibiotics 2-3 were found to have some potential with the disease.When screening the drugs they first used mice cells and lab equipment to find the most promising compounds (drugs). . Erythromyicin was found to have the highest attraction to the RNA CUG expansion (The opposite of CTG repeats in the DNA) Erythromycin was the drug that the researchers chose to study. Click here for the screening graph Muscleblind and Various antibiotics and compounds

Continue reading →

FDA approved Chemotherapy Drug Might Treat Myotonic Dystrophy

Posted on December 25, 2015 by super_admin

In a stunning development The Berglund lab in Gainsville, FL has identified a potential treatment of myotonic dystrophy of a Chemotherapy drug Actinomycin D. In Both Cells and mice that were created to have myotonic dystrophy the drug used at or below levels that are used in human chemotherapy pushed back the Foci that are associated with the disease.

In theory this might be a treatment for myotonic dystrophy. This has not been tried in humans and would be highly risky but for people near end of life this may be a vector for them and their doctors to consider.

Researchers have previously identified what they think is the cause of the disease.In Myotonic Dystrophy the repeat expansion mutation is made into RNA but it does not get out into the cytoplasm. It remains trapped in the nucleus where it sticks to various proteins and appears as spots or foci that can be observed down the microscope. Because these proteins are stuck to the repeat RNA they cannot perform their normal functions correctly within the cell.

Researchers have found that to make progress with this disease, they need to “unstick” the proteins. This drug appears to do this in mice and cells.

Previously to the publication of this article there was no even theoretical treatment available. There are several drugs in development but this takes years of development. For those near end of life with this disease there is now a potential treatment. A copy of the article is here. This is something you may want to discuss with your medical team. Its untried and potentially risky with side effects. More information will be available shortly.

Myotonic Dystrophy Treatment

Please note the study is very technical. We are not recommending this to anyone but bringing all the current information to your attention

How does Myotonic Dystrophy affect the brain and higher level functioning

Posted on May 13, 2015 by Richard

A recent study gave more information on how Myotonic Dystrophy affects the brain. This information is important as treatments are being developed and there are many questions on whether this will help with brain related issues. The study below gives information on white matter and gray matter in the brain that were obtained with MRI studies. The Gray matter seems to give some indication of how a patient may be affected with The various symptoms of myotonic dystrophy. Here is a summary of the study. Click Below to get the full study in PDF

Genetics affect the Brain May 2015

Patients even with short CTG repeats with Myotonic Dystrophy may have cardiac issues

Posted on May 12, 2015 by Richard

A new case study has found that some patients with short DM repeats less than 100 who may not have symptoms of the disease may in fact be troubled with cardiac issues. Here is a full text of the study’s conclusions

This case shows that MD1 with <100 CTG repeats may
exclusively manifest cardiologically, that family screening
for MD1 is important even in asymptomatic patients, and
that MD1 may initially manifest with atypical clinical features.
Muscle biopsy in MD1 may be misleading and may
indicate glycogenosis. Close cardiac follow-up is important
if MD1 manifests cardiologically to prevent syncope or SCD.

Patients even with short repeats may have cardiac issues may 2015

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