#fshd

Thank you so much!

I am a member of a fundraising team for my local chapter of the FSHD Society for facioscapulohumeral muscular dystrophy, the type of MD that I have. As far as I know, the FSHD Society only operates in the USA and Canada, but they have a list of some global FSHD groups here.

The FSHD Society does an annual fundraising event called the Walk and Roll to cure FSHD: this is the only major fundraiser specifically for FSHD in North America. This is the primary way that I've raised money in the past.

Anyone can participate, but the best way is to join or create a fundraising team (fundraising teams raise more than 80% of total donations). FSHD is genetic, so the team I'm on consists mostly of my family members and a few friends that also have FSHD, which classes us as a Friends & Family team (as opposed to a corporate team). You need 4 or more people to make a team.

Teams create a website or Facebook group to document their goals and progress. I'm not sure whether or not this is required, but definitely creates a much easier way for people to send in donations online rather than with cash/check.

Then, get the word out! The easiest way to do this is with social media posts that link to your team's webpage, but some teams also put out flyers. And depending on where you work, you could ask your business to be a corporate sponsor, or do a corporate match program, where every dollar donated by an employee is matched by the corporation. Depending on how much you raise you can receive branded items in return: I've gotten an umbrella, backpack, and duffel bag.

If there is no Walk and Roll event near you, you can participate virtually or donate to the FSHD Society at any time through their website.

Muscle Power

Muscles are the powerhouses of the human body. To take just a single step, around 200 of your muscles will be put to work. The disease FSHD targets these powerhouses, weakening them to the point that a fifth of patients end up wheelchair bound. The disease is caused by the inappropriate presence of the protein DUX4. Researchers investigated what DUX4 is up to in developing muscle cells from humans (pictured) and mice. Normally these cells turn into mature muscle cells bearing the muscle proteins myogenin (green), desmin (red) and myosin heavy chain (grey). Increasing the amount of DUX4 in these developing cells increased the levels of an enzyme called Ret. Ret stopped the cells developing into mature muscle. Adding a drug to block the activity of Ret allowed these cells to mature normally. This drug may therefore someday be useful in treating FSHD.

Written by Lux Fatimathas

Image from work by Louise A Moyle and colleagues

King's College, London, UKs

Image originally published under a Creative Commons Licence (BY 4.0)

Published in eLife, November 2016

fsh (facioscapulohumeral) muscular dystrophy is an inherited neuromuscular disease that causes progressive weakness in the face, shoulders and arms. some fshmd patients (including me) also have pain and weakness in their torso and legs. in rare cases fshmd can cause hearing loss, vision loss, respiratory issues and cardiac issues. 20% of fshmd patients use wheelchairs or electronic mobility devices. (you can read more symptoms here)

A Wearable Assistive Device for Adolescents and Young Adults living with Facioscapulohumeral Muscular Dystrophy.