New Book about a Family with Myotonic Dystrophy

There are not many books about myotonic dystrophy. There is a fictional series about a skater that has myotonic dystrophy. I wrote a short book about the hopes and aspirations of my son “The boy who was President”. Now comes a great biography about a family with Myotonic Dystrophy. A must read for all with the disease. Here’s a short introduction:

As a young girl, my constant goal was to help my brother, Dustin, walk. Dustin’s limits were hard to gauge because he constantly surpassed expectations. He was born with congenital myotonic dystrophy and expected to die, then to live three months, then three years. Instead, he gained strength and capabilities until age 13, when he had a simple cold and just did not wake up from his nap. His body became too much for the largest muscle in his body, his heart.

While Dustin was alive, I threw quarters in wells, prayed every night, and practiced with him every day after he had surgery and got corrective braces. I would stretch my brother’s legs, rotate his ankles, do resistance exercises and help him practice standing. At age 12, I thought willpower was so strong that, through perseverance and dedication, I could will my brother to walk.

Three years older than my brother, I grew up doing adult caretaking tasks. Through the years, I would change thousands of diapers, brush Dustin’s teeth, lift him into bed, administer nebulizer treatments, clean his feeding tube, watch him when both my parents had to work, bathe him, unload his wheelchair from the bus and play with him. Most things I did for my brother were helpful, but with my conceptions about willpower and Dustin walking, I pushed my brother past his comfort level more than once and caused more pain than progress. For me, a healthy sibling, willpower was a tool to push past obstacles. However, the same view I took of my young healthy body proved detrimental to my brother’s and caused him pain.

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Males are worse off in Myotonic Dystrophy

A new study shows that males seem to be worse off on a number of factors when they have myotonic dystrophy. Social economic ($$$$) money issues as well as from a health standpoint they do not do as well as females. The full study can be seen here Gender and Myotonic Dystrophy

 

SUMMARY

Our study revealed the multidimensional influence of gender in DM1. First, maternal inheritance was associated with longer repeat expansions and more severe phenotype, as previously reported [5, 6]. This has been attributed to marked DNA instability in the female germ cell lineage allowing additional triplets insertion during oogenesis [43]. Such instability also results to an anticipation in case of maternal inheritance, a phenomenon corresponding to earlier onset and more severe symptoms observed in successive generations [10]. Surprisingly, and in contrast to the general assumptions, we observed that fathers transmitted up to 9% of neonatalonset (mild or severe) forms and 50% of infantile forms, especially those with lower cognitive impairment. Another unexpected observation was that only a minority of overall DM1 patients(37%) had maternal inheritance, which is most unusual for an autosomal dominant inherited disease. It probably results from increased miscarriage and perinatal lethality observed in female DM1 transmitters.

The second gender difference implied an unequal prevalence of several DM1 signs and symptoms in men and women. These differences could not be accounted for overall quantitative male-to-female disproportion in our study population (considered in all statistical analysis),or for the age and genotype differences between the two groups. Men tended to have more obvious classical DM1 symptoms, combining cognitive impairment, marked myotonia,cardiac and respiratory involvement whereas women had more extra-muscular and lateonset manifestations, less suggestive of DM1, such as cataracts, obesity, dysthyroidism, G Isymptoms and sphincter dysfunction. The most poorly symptomatic patients were women,implicating occasional hidden DM1 transmissions by undiagnosed female mutation carriers.

In practice, the sex-related differential risks of developing specific manifestations may require sex-orientated care management, which should be specifically adapted for men (at higher risk of mechanical ventilation, respiratory failure or cardiac conduction defects,which could provide more frequent hospitalization and increased mortality according PMSI database) as well as for women (at higher risk of thyroidism, obesity, sphincter dysfunction,and cataracts). This gender disproportion suggests that women could be more carefulwith their own health. This is underlined by FDM-S survey showing a similar number ofannual routine visits to the cardiologist and pneumonologist for both genders, despite male have more cardiac and respiratory involvement, which should prompt more regular medical care. Altogether, the results highlight the importance of a greater awareness about preventive medical care in DM1 male individuals.

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

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.

Family Day at IDMC-10 Looks Wonderful

There will be a family day free of charge at the IDMC10 conference in Paris this year. Every two years hundreds of researchers gather to discuss the latest and greatest in the field. This year the meeting is June 8-12th in Paris France.At the end of the conference there is generally a patient day where new information about the disease is released to the public in a less scientific way.  Here is an outline of the family Program

IDMC10 meets Families’ Day of AFM-Telethon

June 12, from 15:00.

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Case Reports of Pregnancy and Myotonic Dystrophy

With the correct diagnosis myotonic dystrophy can be prevented for the next generation. By using pre-implant diagnosis the next generation can be assured not to have myotonic dystrophy. This is an expensive and not practical approach in all countries though.  This blog contains  case reports from Pakistan of two case studies.

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