Monthly Archives: January 2010

A request

For those of you on Facebook, would you mind voting for Ehlers Danlos Network Cares in the Chase Community Giving? That organization has very low overhead, and has worked hard to make it the current Round 2 (Top 100) of the giveaway. And earned $25,000 thus far. 🙂

They are trying to raise money for Ehlers Danlos syndrome (EDS) research via funding a mouse model for EDS type IV (Vascular), which is the type that greatly affects life expectancy.

There are 2 steps to the process:

First, become a fan of Chase Community Giving here

Once “become a fan” you are given 5 votes. This is the charity I am requesting that you vote for. And you have 4 votes left over to vote for 4 others. 🙂

Thank you very much.

More, from Ehlers-Danlos Network Cares:

The Issue

Could YOU have Ehlers-Danlos Syndrome (EDS)? EDS is a life-threatening, painful, crippling genetic disorder caused by faulty collagen. It weakens the connective tissue causing fragile skin, joints, ligaments, organs, and blood vessels. EDS is misunderstood, grossly misdiagnosed, and some 90% never receive a proper diagnosis in their lifetime. There is no funding for research. There are no treatments. There is no cure. Today, we are at the threshold of promising research that can change all this and offer those who suffer, HOPE. It’s estimated that 1,358,640 people are affected worldwide, and thousands die. Sadly, many are diagnosed at autopsy after catastrophic internal ruptures. Yearly, 30,000 children are born with bleak futures as they struggle with lifelong consequences due to EDS. Our HOPE is to continue to fund research, increase education/awareness, find treatment options, and save/improve lives. Help us find that cure. Thanks Chase for the opportunity and for YOUR vote!

The Plan

Our HOPE lies in our plans to fund vital medical research, increase education, and conduct pediatric outreach initiatives. Our organization is run solely by volunteers, allowing us to have a greater financial impact in all these areas. Our present research is being conducted at Johns Hopkins University. This is an extension of prior research on similar disorders that have shown certain therapeutic medications already approved have reduced fragility of the vascular system and prolong lives. There is evidence that the same process is at work in vascular EDS, and will yield the same results. The initial start-up cost is $100,000, and an estimated $200,000 per year for 3 years. Create educational and medical programs for the medical community to effectively diagnose, care for and treat EDS patients; Diagnostic charts inserted into Pediatric Medical Journals; Sponsor safe medical camps for our youth; School Medical packets, to increased understanding and public awareness.

The Outcome

Our HOPE is that this research will succeed so that people will no longer suffer or die from EDS; that an accurate EDS research model will be completed in 2010; that in 2 years, medication treatment trials, much like current Marfan trials, will begin, and by 2014, we will implement a revolutionary new treatment for vascular EDS. We HOPE that new spinoff research will uncover effective treatments for all types of EDS, and open doors for funding other sources of long-term research. We will consequently reach over 200,000 in the medical community who will benefit from new evidenced based publications to effectively recognize and manage EDS patients, optimize successful surgical outcomes, and improve the quality of life for the EDS community. These programs, as well as our pediatric initiatives, will be completed by 2011. In order to accomplish our long term mission and ensure our future, endowments will be established. Our job is to bring these goals to fruition. Lives are depending on it!

(Crossposted to my main blog)

Scientists Create Super-Strong Collagen

A team of University of Wisconsin-Madison researchers has created the strongest form of collagen known to science, a stable alternative to human collagen that could one day be used to treat arthritis and other conditions that result from collagen defects.

Hmmm wonder if that has any Ehlers-Danlos syndrome implications? Sounds like it might.

The lab website

Abstract of the paper: Stereoelectronic and steric effects in side chains preorganize a protein main chain. Matthew D. Shoulders, Kenneth A. Satyshur, Katrina T. Forest, and Ronald T. Raines (2010). Proceedings of the National Academy of Sciences USA 107, 559 – 564.

Rare Disease Day 2010 is the site for folks in the USA. They want their partner organizations to participate in various ways, like sharing stories, etc.

Last year, for Rare Disease Day, I created a website/database where people diagnosed with Ehlers-Danlos syndrome could submit their stories. I announced it on the EDNF boards but there wasn’t much interest from EDNF (never received the permissions form they were supposed to email), nor the members, nobody used it, and so I took it down.

It was an open source CMS site, if any geeks are reading. I’ve been a webmaster since 1995-96 (though my days of being a productive member of society are winding down thanks to POTS) so something like Drupal / Mambo / Joomla was easy-peasy. I haven’t worked with those since, but I was impressed at how quick and easy those open source CMS were to customize/manage/secure.


(Circulation. 2008;118:785-791.) © 2008 American Heart Association, Inc.
Special Report
Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on Research in Marfan Syndrome and Related Disorders

Cell and Tissue Research, Volume 339, Number 1 / January, 2010
Cell interactions with the extracellular matrix (overview)

Researchers Discover a Way to Strengthen Proteins

Brittany Murphy Had Dysautonomia?

Brittany Murphy’s half-brother has mentioned a genetic disorder as a possible cause of her sudden death at the age of 32. Sarah (?) at POTS Awareness (page has background music) posted that link on Twitter.

I’m not sure what to think of that. I’m not really “with it,” & wasn’t sure who Brittany Murphy was. Not really into current popular culture I guess. Found out she played the girl with chicken under the bed in Girl, Interrupted and was in 8 Mile so OK, I knew who she was then. She was a good actress & very young & it’s sad.

The list of prescription medications found at her house included Propranolol, a beta blocker that is commonly prescribed for POTS and some anti-anxiety medications that are also typically prescribed for dysautonomia because SSRIs help regulate norepinephrine & the sympathetic nervous system.


Medications used to treat POTS

A review of postural orthostatic tachycardia syndrome – Sheila Carew, Margaret O. Connor, John Cooke, Richard Conway, Christine Sheehy, Aine Costelloe and Declan Lyons*

Happy 2010

Hope 2010 is a good one for you. 🙂 I’m married to a jazz musician so we usually don’t spend New Year’s Eve together because that is a good night $$ for gigs. But last night, for the only the second time in over 20 years, we got to spend it together. (I had made him stay home for the millennium, haha, because I wanted to bring in the new century with him.) 🙂 Come to think of it, our first date was on New Year’s Eve & he was playing a gig so I hung out at a table and drank beer with his dad until he was finished playing haha.

Hope your 2010 is full of great things.

Random links:

It is thought that Conan Doyle was among the first to describe an inherited disease now known as Marfan’s syndrome.

COL5A1 Signal Peptide Mutations Interfere with Protein Secretion and Cause Classic Ehlers-Danlos Syndrome . PDF

Collagen Structure and Stability – MD Shoulders, RT Raines – Annual Review of Biochemistry, 2009 PDF

Motor Performance in Children with Generalized Hypermobility: The Influence of Muscle Strength and Exercise Capacity – Hanewinkel-van Kleef, Yvonne B. PT, MSc, PCS; Helders, Paul J.M. PT, MSc, PhD, PCS; Takken, Tim MSc, PhD; Engelbert, Raoul H. PT, PhD, PCS PDF

Dignity not fully upheld when seeking health care: Experiences expressed by individuals suffering from Ehlers-Danlos syndrome. Disability & Rehabilitation 2010, Vol. 32, No. 1 : Pages 1-7 abstract

Anxiety disorders and joint hypermobility syndrome: the role of collagen tissue, General Hospital Psychiatry, Volume 31, Issue 3, May-June 2009, Page 299 abstract

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment. abstract