Ehlers Danlos in New York
Somehow saying “Happy Rare Disease Day” doesn’t quite have a ring to it, does it?
Thanks to IOWA STATE UNIVERSITY for this great piece on a student with hEDS. A good one to share with friends, colleagues and family to bring some light to what we EDSers go through every day — not just on Rare Disease Day. If only!
I have been following Melanie Hartshorn’s story for quite some time.
She suffers from hEDS as well as severe CCI (cervial-cranial instability). Melanie has lived bed-bound, unable to lift her head due to constant dislocations. This has not stopped her. Melanie recently graduated from college, having taken all her classes and exams lying on her stomach on a gurney or bed.
Melanie had spinal fusion and Chiari surgery a few months ago in Barcelona. Although she had hoped to spend more time upright, has hit a setback with her physical therapy allocation funds and is now only able to spend a few hours upright daily.
Melanie is an extraordinary woman who has been very vocal and visible about about EDS in the UK media. She is an example of what all of us can accomplish despite our limitations. Please consider contributing to her Go Fund Me, if you are able.
To donate, visit www.gofundme.com/melanie-s-mission
Anonymous donor presents $1 million gift to The Ehlers-Danlos Society to jumpstart groundbreaking genomic research into genetic cause of hypermobile Ehlers-Danlos syndrome (hEDS).
The Ehlers-Danlos Society has announced the largest single donation in its 33-year history to establish an international research network of leading physicians, geneticists, and other health professionals devoted to finding the underlying genetic markers for hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). The anonymous gift of $1 million dollars, represents the largest individual gift in the history of hypermobile EDS research.
“Because hypermobile Ehlers-Danlos lacks a known genetic cause, this truly has the potential to be a transformational gift,” states Lara Bloom, International Executive Director of The Ehlers-Danlos Society, a global leader in Ehlers-Danlos research, collaboration, and support.
“Through our donor’s extraordinary generosity, we are finally able to launch a virtual ‘moonshot’ in the advancement of our understanding into the most prevalent—and often most vexing—form of the Ehlers-Danlos syndromes,” declares Bloom.
“Although our 29-year-old daughter has remarkable coping ability and good medical support, she is in constant pain. She also has fatigue, nausea, sleep disturbance, and anxiety. Everything she does or plans is affected by this condition,” emphasizes the donor.
“No others in our family have hEDS or HSD that we know, but I feel as if we all have it, because we think of her every day. At the same time, as I’ve learned about hEDS and HSD, I’ve become concerned not only about our own daughter, but also for the many people suffering from these problems around the world. The severity and prevalence of these syndromes is greatly underappreciated. It is possible that hEDS and HSD are a collection of distinct and different genetic syndromes with similar manifestations. If so, it’s important we understand this so we can pursue the appropriate research for each condition and make the best recommendations about family planning,” continues the donor.
Visit www.ehlers-danlos.com for more information.
Video for the presentation is at:
EDS-NYC YouScript Video Page
Ever feel one of these?
o anxiety
o ‘brain fog’
o dizziness,
o forgetfulness,
o headache,
o GI problems,
o seizure
Or have you ever said…
o “Certain medicines don’t work for me.”
o “I’m sensitive to many medications.”
o “I need a very low starting dose.”
Then come to our next meeting for the talk titled:
“Why some medications don’t work – or make you feel worse – and what you can do about it.”
Genetic differences in how bodies metabolize drugs can cause all these problems. With genetic testing we can identify bad combinations of specific medicines and certain genes, find alternative meds, and avoid dangerous side effects.
We are extremely fortunate to have Dan Doherty, of Genelex, come speak about the YouScript Personalized Prescribing System, the only medication management system that assesses the cumulative effect of a patient’s genetics and entire drug regimen to determine adverse drug event risk and recommend safer alternatives.
EDSers tend to take a number of meds which tends to increase the risk of side effects. Learn what’s going on and, more importantly, what to do about it.
Dan, has been with Genelex since 2006 helping thousands of clinicians improve patient safety with personalized prescribing. He’s had a unique opportunity to speak regularly with patients and heard the impact CYP450 testing has had on the quality of their lives. He previously worked onsite 24/5 managing the daily routine for residents in a non-profit group home, seeing both the positive and negative impacts of psychiatric medication management on a daily basis. He’s previously spoken at The Children’s Coalition Against Pediatric Pain, The Mastocytosis Society and the Chiari & Syringomyelia Foundation.
Company overview:
Genelex’s high complexity, CLIA laboratory has more than 25 years of DNA testing experience and in 2000 became one of the first laboratories in the US to provide personalized prescribing testing for pharmacogenetics. When used while prescribing, YouScript can help providers prevent adverse drug events, improve treatment and reduce healthcare costs.
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Video for the presentation is at:
YouScript Video Page
