Education, research, support, and patient advocacy: these are just four of the amazing things that rare disease or disorder foundations offer. Many foundations seek to offer programs and resources to patients and their families. But more than that, these foundations spread awareness of rare diseases and the patient experience. In a press release from late May, The Marfan Foundation announced an upcoming partnership with the Loeys-Dietz Foundation. Starting on July 1st, the Loeys-Dietz Syndrome Foundation will become a division of The Marfan Foundation. Together, the Foundations hope to provide more resources and research, and a better quality of life, for patients with genetic conditions.
In the past, many patients with Loeys-Dietz syndrome were mistakenly diagnosed with Marfan syndrome. In fact, Loeys-Dietz syndrome wasn’t even declared its own condition until 2005 – just 15 years ago! As a result, The Marfan Foundation is uniquely poised to continue providing presentations, workshops, and other programs to patients. Additionally, the partnership will allow for expansion and increased education.
Although the Loeys-Dietz Syndrome Foundation will become a division of The Marfan Foundation, it will still use its own Medical Advisory Board, logo, website, and social media pages.
The Marfan Foundation
For nearly 40 years, The Marfan Foundation has sought to improve the quality of life for patients with Marfan syndrome and other genetic aortic conditions. Their mission focuses on three distinct goals:
- Contributing to, and advancing research for, Marfan syndrome and related treatments. The Marfan Foundation advocates for government funding, provides research grants to researchers, and shares their data via partnerships, conferences, and other events.
- Creating a community for those affected by Marfan syndrome and similar conditions. First, The Marfan Foundation offers a variety of educational resources on their website, including Q&A video series. Next, they also create supportive environments for children, teenagers, parents, and other groups to form bonds and discuss their condition. Finally, the Foundation offers opportunities for volunteerism, social events, camps, and even mentorship.
- Educating others on Marfan syndrome and similar conditions. In addition to the comprehensive website, The Marfan Foundation uses social media and email campaigns to inform readers on updates in treatment, research, and resources.
Check out more of what the Marfan Foundation does.
Marfan syndrome is a genetic disorder which affects the body’s connective tissues. Connective tissues exist throughout your body; they work to support, connect, and protect your organs and other bodily structures. Marfan syndrome impacts the connective tissues around the heart, eyes, blood vessels, and skeleton, increasing the risk of heart damage.
The Marfan Foundation hypothesizes that around 50% of patients don’t even know they have Marfan syndrome. Why? The condition varies between patients. It can present very mildly or be life-threatening. Generally, symptoms worsen over time. These include:
- Flat feet
- Vision problems, such as nearsightedness or blurry vision
- An abnormally curved spine
- Long, slender arms, legs, and fingers
- Extreme joint flexibility
- A tall, thin build
- Heart murmurs
- Either a sunken or protruding chest
- Crowded teeth
Learn more about Marfan syndrome.
Loeys-Dietz Syndrome Foundation
According to the Foundation website, the Loeys-Dietz Syndrome Foundation aims to:
[encourage] education about Loeys-Dietz syndrome and related connective tissue disorders to medical professionals and lay communities in order to aid in identification, diagnosis, and treatment of Loeys-Dietz syndrome,
[foster] research about Loeys-Dietz syndrome, [and]
[provide] a support network for individuals, parents, and families affected by Loeys-Dietz syndrome.
Their website offers a variety of resources, from presentations and emergency alert cards to data and reports.
Similar to Marfan syndrome, Loeys-Dietz syndrome is a genetic condition impacting connective tissue. But while the two have many elements in common, there are also specific separations.
There are 5 subsets of Loeys-Dietz syndrome, dependent on the particular genetic mutation. While Marfan syndrome is caused by a FBN-1 gene mutation, Loeys-Dietz syndrome results from a mutation in TGFβR1, TGFβR2, SMAD-3, TGFβ2, or TGFβ3.
Key characteristics of Loeys-Dietz syndrome include:
- Widely spaced or slanted eyes
- Cleft palate
- Abnormally long fingers or toes
- Severe food or environmental allergies
- Blue or gray appearance to the whites of the eyes
- Frequent and easy bruising
- Soft, pale, nearly see-through skin
- Gastrointestinal problems, including inflammation
- Hollow organs and organ rupture (particular the intestines, uterus, spleen, and bowel)
- Twisted arteries
- Heart defects, included an enlarged aorta
- When the aorta is too big, it can weaken and stretch, leading to life-threatening issues like aortic dissection or aneurysms.
Learn more about Loeys-Dietz syndrome.