#global genes

[madisonmclaughlinthings]

Madison McLaughlin's Instagram Story January 2, 2019 (part five)

[lgbtadvocate]

Rare Disease: Unrelated

Happy Rare Disease Day!

My first rare disease diagnosis came at age 12, bilateral discoid mensicus. Its a congenital defect of the knee soft tissue. It is shaped like a circle instead of being shaped like a C. After 6 months of unbearable pain, i had surgery to correct in 2007. That was 10 years ago. Though I would later be diagnosed with EDS, this defect is unrelated. 

My next unrelated rare diagnosis is yet to be determined. A couple months ago, a routine EMG showed neuropathy effecting peripheral nerves, but also muscles. At first it seemed like it was a Chronic Demylenating Inflamatory Polyneuropathy (which is the chronic form of Guianne-Barre) but after further investigation it is now seeming like it might be Charcot Marie Tooth disease. Both of these are rare diseases with no FDA approved treatment and have no correlation to EDS. 

How unlucky (or lucky) am I to have 3 rare diseases with no connection to each other, not to mention my diseases connected to EDS like Tethered Cord, Gastroparesis, CCI, and pelvic organ prolapse. 

I hope that this next phase of investigation (which involves a visit to genetics and another EMG) brings a clear answer on what i have and what to do (if anything) about it. 

I hope to raise awareness that rare diseases come in all different groups, shapes, and sizes. 

Visit globalgenes.org to learn more about rare diseases. 

[grimmiearchive]

26 September 2015

Christina Grimmie attends the Global Genes Gala

[dupuytrens-org]

New Post has been published on https://dupuytrens.org/dupuytren-rare-champion-of-hope-award/

Dupuytren Rare Champion of Hope Award

I just returned from the 2019 Global Genes Rare Advocacy Summit with the Rare Champion of Hope award in the category of science.

It was one of the most exciting and inspirational meetings I’ve attended, filled with successful disease advocates, brilliant researchers, and leaders in genomic and advocacy technologies. What I learned there will change how Dupuytren Research Group proceeds with the mission of a Dupuytren cure.

This event, with so many disease advocates for difficult genetic diseases, cast a light on the fundamental question of how Dupuytren is treated and how should it be treated.

This is the transcript of the acceptance speech I gave:

Thank you, Global Genes. I’m immensely grateful for this honor. Dupuytren disease can cripple hands. Bending fingers into the palms, slowly, permanently. Other serious health effects result in diminished quality of life, greater cancer risk, shortened lives, passed from one generation to the next.

I have Dupuytren. Fortunately, mine’s not bad but my late wife’s father had severe treatment-resistant Dupuytren. Lost most of the use of his hands despite many operations. So, my children have Dupuytren in both family lines, at high risk to suffer the same fate as their grandfather.

NORD describes Dupuytren as a rare disease. Textbooks describe it as incurable. There’s no medicine. It’s only treated by surgeons. One option might be to wait for bent fingers, do a procedure to make them less bent, and keep repeating this until it stops working or there’s a terrible complication – and ignore everything else about the disease. So, yes, if that were the only treatment, it would be incurable. Incredibly, that is our current treatment model and has been for almost 200 years. How is that even possible? Hasn’t there been any research?

There has. A lot. But disease research is compartmentalized. Surgeons do research on fixing local complications such as straightening bent fingers. Medical doctors do research on preventing systemic complications. That’s the research we need. But hand surgeons – the ones who treat Dupuytren – don’t do that type of medical research at all, and medical doctors don’t treat Dupuytren at all, so Dupuytren patients have been stranded in the abyss between these research silos, waiting for a cure that hasn’t been coming.

I know this because I’m a hand surgeon. Before I retired, I specialized in Dupuytren and founded the first nonprofit Dupuytren advocacy group in 2008. Our goal is a cure. The biggest obstacle is the lack of a Dupuytren blood test. No university was working on this because research is compartmentalized, so we’re doing the research. Independent, patient-centered, crowdsourced. And so far, self-funded.

There’s no pharma funding because there’s no blood test to measure drug response. No federal funding to develop a blood test because no one has done a pilot study. So, we’re doing the pilot study. It’s not the definitive study. It’s the study that has to be done to get the data to make the pitch to create the funding to do the definitive study – to develop a quantitative Dupuytren blood test, to match circulating Dupuytren biomarkers to possible medicines, and to have a blood test to rapidly evaluate new treatments not only for Dupuytren but potentially for other systemic fibrotic diseases which kill millions of people every year.

Our work is only possible because of the incredible support of the global Dupuytren patient community. I owe it to this community to give back. I owe it to my family to pay it forward. I owe it to Global Genes for helping change the model of rare disease research and for working to remove the word incurable from our vocabulary. I’m very, very grateful. Thank you.

Charles Eaton MD

[madisonmclaughlinthings]

Madison McLaughlin's Instagram Story January 2, 2019 (part 1)

[themagicalmeganandliz]

The girls looking BEAUTIFUL at the Global Genes' 7th Annual RARE Patient Advocacy Summit And RARE Champions Of Hope Celebration

[himynamessarah]

Can we discuss this for a second

Ok, so underrepresentation in the media is a problem for a lot of different groups and minorities, but there's one particular thing that bugs me more that anything.

So I have an ultra rare genetic disorder, what does that mean you might ask, well my friend, that means that less than one person in even 50,000 people has been diagnosed with it.

Now this might seem like the minority of all minorities, but you know what?

THERES SO MANY DIFFERENT ULTRA RARE DISSORDERS THAT ONE IN EVEN TEN PEOPLE HAS AN ULTRA RARE GENETIC DISORDER

Now at this point you're probably thinking

"Sarah, that can't be true, I don't know a single person with a genetic disorder"

Well guess what bitch, you're wrong and you don't even know it, because most ultra rare genetic disorders are invisible illnesses, which means they're not something you can see from the outside that has a lot of outward symptoms, it's a problem that takes place almost exclusively inside the body with almost no outward symptoms, especially when they're not having any sort of outbreak, or relapse. So chances are you know quite a few and you don't even know it because

WE DONT ALWAYS LOOK SICK

And now you're probably thinking, "oh well then that would be impossible to portray in the media-"

WRONG AGAIN

Have one of your side characters get an infusion while the main is at their house, have your main taking pills and their friend isn't sure what they're for so they explain, have them get excited for national rare disease day (last day of February every year), have them advocate for awareness, there's so much you could do with it.

With the rise in awareness for LGBT+ and different races and different genders it's time we stopped ignoring such a large part of our society.

Just because our disorders are invisible doesn't mean we have to be

[frenchygv]

Rare, watercolor and pencil on paper, 5″ x 7″.

Today is World Rare Disease Day. #WRDD2018 is an observance held on the last day of February to raise awareness for #RAREdiseases as a means to improve access to treatments and medical representation for individuals with #RAREdiseases and their families. People who suffer from rare diseases suffer not just from the difficulty caused by their illness but also from the difficulty in getting access to medical care, imagine being diagnosed with an illness that none of your local doctors have ever treated before. The RARE Comunity is over 350 million people large, and rare diseases affect more people than #AIDS and #cancer combined, yet only 5% of people with a #RAREdisease have a FDA approved treatment.

Global Genes Has created the #WearThatYouCare campaign, all across the world people can participate in supporting this movement and rare and genetic disease awareness by wearing their favorite pair of jeans, and sharing their photo using the hashtag #WearThatYouCare.

Hoy es el Día Mundial de las Enfermedades Raras. #WRDD2018 es una celebración celebrada el último día de febrero para crear conciencia sobre las #enfermedadesRARAS como un medio para mejorar el acceso a los tratamientos y la representación médica para las personas con #enfermedadesRARAS y sus familias. Las personas que padecen enfermedades raras no solo sufren por la dificultad causada por su enfermedad, sino también por la dificultad de acceder a la atención médica, imagínate que te diagnostiquen una enfermedad que ninguno de tus médicos locales ha tratado antes. La comunidad RARA cuenta con más de 350 millones de personas, y las enfermedades raras afectan a más personas que el #SIDA y el #CANCER combinados, pero solo el 5% de las personas con una enfermedad #RARA tienen un tratamiento aprobado por la FDA e instituciones similares.

Global Genes ha creado la campaña #WearThatYouCare (viste que te importa), en todo el mundo las personas pueden participar apoyando este movimiento y la conciencia de enfermedades raras y genéticas usando sus pantalones vaqueros favoritos, y compartiendo sus fotos usando el hashtag #WearThatYouCare.