Teen undeterred by rare disorder – Marfan Syndrome

Nothing is going to cramp Brittany Glassey’s style, not even a potentially dangerous genetic condition.

The 16-year-old Lincoln High School pupil has the rare genetic disorder Marfan Syndrome, which affects about one in 3000 to 5000 people worldwide.

Brittany GlasseyThe condition is not easily identified and sometimes people have no idea they have it until something happens. It affects connective tissue and can lead to problems in the heart, eyes, bones or nervous system.

However, Glassey refuses to let it hold her back from doing what she loves, which is designing and creating art, particularly fashion.

“It’s not really a big problem to me, personally. Maybe some people might find it difficult. I don’t think it does affect my quality of life. My condition won’t hold me back,” she said.

“I haven’t been able to do really hardcore sports, but everything I have ever wanted to do ever since I was young was to be creative, so it hasn’t affected me personally. I use it to my benefit, like using it to do more with my creativity.”

Designing clothes has been something she has been doing from an early age.

“I used to make clothes for my dolls with the sewing machine at home, but I never really got back into it when I got older. I wanted to do a bit more last year in textiles class and I really enjoyed it, so I’ve been making dresses and things ever since.”

Read More: The Press

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Staunton native returns as author with a touching story – Marfan syndrome

stauntonA lesson of triumph through life’s trials … the true story of Patrick Gorman, a boy who overcame deafness and Marfan syndrome with the support of his family.

Thousands of children in the United States are diagnosed with deafness each year. Over 50,000 people in the U.S. have been diagnosed with Marfan syndrome, a connective tissue disease that threatens the heart, lungs, and spinal cord. Few have to struggle with both of these illnesses, and even fewer have overcome these disadvantages with the determination and compassion of Patrick Gorman.

Read More: augusta free press

How I live with Hypermobility Syndrome

yogaHypermobility Syndrome (HMS or Ehlers Danlos Syndrome- Hypermobility Type) is a condition that affects 10-20% of the population. Some people who fit the diagnostic criteria for HMS will have no apparent negative effects as a result, for others it is a debilitating condition that can seriously impair their mobility and manifest with symptoms as diverse as joint dislocations, fatigue and heart murmurs.

I am somewhere in the middle of this scale. I have chronic joint pain, and frequent joint subluxations (partial dislocations). Without appropriate care, joints become unstable, I fall frequently causing damage to my joint surfaces and ligaments. Having lived with this condition for 20 years, I have found ways to manage it, and am able to maintain good mobility within my own boundaries – a far better outcome than my original prognosis. Here are some of the tips that have helped me manage my Hypermobility Syndrome:

Use it or lose it – keep active.

I know I am not going to be running any marathons, but that does not mean I have to submit to the sofa completely. I choose ways to keep active that within my capabilities.

Can you swim? Maybe breaststroke is too much for your hips, so how about crawl? How about some gentle yoga? Learning to maintain your alignment whilst gently building strength in your posture is really beneficial. Be aware that I am not advocating stretching for flexibility here, but strong yoga postures to stabilise the joints. Can’t stand? How about chair yoga ?

Even if all you can do today is sit up in bed for a bit, challenging your body in a sympathetic manner will not only help you maintain your physical ability, but will also make you feel good.

Make your plans as flexible as you are.

Some days I wake up feeling spritely and good, some days I wake up creaky, aching and tired. Sometimes I get better as the day progresses, sometimes worse. I have to be prepared to adjust my plans accordingly because I have learned that there is no point putting more strain on myself unnecessarily

Hormonal changes and pregnancy can seriously impact the state of your ligaments, so always be mindful, and non-judgmental, of your capabilities at this moment.

Read More: Yahoo Lifestyle

Genetic disease kills 5 men in family – EDS

WYOMING, Mich. (WOOD) – Darlene Yasick’s family has known heartache and loss but it’s a well of hope, deep faith and unending love that has gotten them through the toughest of times.

“If you don’t have hope, then there is nothing,” said Yasick.

Her family suffered its first loss in 1989.

“My husband passed away in 1989. At the time that he died, we didn’t know what the cause was. He was 48 years old.”

But it wasn’t until years later they would find that it was something called Ehlers-Danlos Syndrome — a deadly genetic disease — that killed him.

Since Yasick’s husband Gene died, she has lost three sons and a grandson to EDS.

Yasick describes it as a “nightmare and you can’t wake up from up it.”

According to the Ehlers-Danlos National Foundation, those that have EDS “have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a ‘glue’ in the body, adding strength and elasticity to connective tissue.”

That means, essentially, that EDS weakens the bonds that hold organs, vessels and arteries together.

There are six different kinds of EDS. All five of Yasick’s family members who died had the Vascular Type — the most serious form, according to the Ehlers-Danlos Syndrome Network.

The Vascular Type of EDS can lead to the sudden rupturing of arteries or organs as the result of even minor trauma.

“There is no treatment. There is no therapy. Right now, there is nothing if you have it you have it,” Yasick said.

Read More: WoodTV.com

Ronalda’s Song debuts at Good Samaritan UMC – Marfan Syndrome

Ronalda PierceOn June 4, 2004, Ronalda Pierce, from Ashburn, GA, a potential superstar for the FSU women’s basketball team, died suddenly of an aneurysm at the age of 19. Her death was brought about by the silent killer Marfan’s Syndrome.

Ronalda had been taking a “Death & Dying” course at Florida State University and one of the class assignments was for the students to design their own funeral. As a part of her funeral she wrote a poem to be read many years later, or so the thought.

Having worked the Seminole sports beat for well over 30 years, I became very close to Ronalda’s story and that Seminole team of 2004-05. So while working on a book and a screenplay about the story, I was inspired to convert Ronalda’s poem into Ronalda’s song.

Read More: Taliahassee

Teaching assistant adds her voice to school’s play equipment appeal – Ehlers–Danlos syndrome.

col_smiles_shLIZZIE Kilby dreamed of being a runner.
As a child, it was all she ever wanted. She dreamt of running for Essex and competing in the Olympics.
But her hopes and dreams where left in tatters when she was diagnosed with Ehlers–Danlos syndrome.
The condition occurs when the body’s collagen is defective causing joints to repeatedly and regularly dislocate.
Lizzie started to use a wheelchair when she was ten and by the time she was 13, she was in it permanently.
“I was the fastest runner in primary school,” she said.

“I used to run with a club and I did trampolining. To be a runner was all I ever dreamed of, I set my heart on it.
“All of that disappeared within seconds of me getting in the wheelchair.”

But Lizzie is a feisty and determined woman and her innate stubbornness means she is not one to give up easily.
She went to college where she studied health and social care and did work placements in mainstream and special needs schools.
Today, she works as a teaching assistant but, as with everything in Lizzie’s life, it hasn’t been an easy journey.
One of her work placements was at Lexden Springs School in Halstead Road, Colchester. She loved the school so much she returned as a volunteer.

Then she became a midday assistant and then a part-time learning support assistant before working her way up to her current job.
But every day Lizzie battles with pain as her joints – her wrists, fingers, ankles, knees, elbows, shoulders, even her vertebrae – dislocate.
Her husband Tom, who is also a teaching assistant at the school, said: “She can have 30 dislocations a day, five before 9am.”
Calmly, stoically, Lizzie pops the joints back into position.

She wears splints on her wrists, hips, legs to try to keep them straight.
But despite the pain, she defiantly refuses to let the condition rule her life.

Read More: Daily Gazette

New Survey Conducted by The Marfan Foundation Finds That One in Five Patients Had Surgery Before Getting Marfan Diagnosis

marfan foundation logoOne in five people with Marfan syndrome had some form of surgery before they were diagnosed with the potentially life-threatening condition, according to a survey of 1277 people conducted by The Marfan Foundation from July 21-August 18, 2013. The survey was conducted to identify the signs that lead to a Marfan syndrome diagnosis and better understand the diagnosis process that people go through.

Alarmingly, of those who had surgery before they were diagnosed, 20 percent had an operation to repair a tear in their aorta, the large artery that takes blood away from the heart. In addition, 27 percent had an operation on tendons, ligaments, or joints; 24 percent on their back; 22 percent on bones; and 14 percent to repair a chest deformity.

“It is concerning that so many people had surgery to repair their aorta before they got their Marfan diagnosis,” said Alan C. Braverman, MD, Director of the Marfan Syndrome Clinic at Washington University School of Medicine and Chair of The Marfan Foundation’s Professional Advisory Board. “If they were able to be diagnosed with Marfan syndrome first, they could have undergone preventative aortic surgery before the aorta dissected. Many patients do not survive acute aortic dissection. People with Marfan syndrome who undergo surgery for an enlarged aorta may often expect to live a normal lifespan. However, the long-term outcome after an aortic tear occurs is not nearly as favorable.”

Read more: Digital Jounal