Sunday, February 18, 2024

Some Background about VEDS




Last week I wrote about my son being diagnosed with vascular Ehlers-Danlos syndrome.  I am raising money for the organization that is driving research for this disorder.   Please read about it here.

Thank you to those who have donated and supported my cause.

Today I want to provide some clarification and education.  I'm hoping you'll get a sense for how serious this disorder is and, in turn, why I'm so passionate about trying to do something about it.  The bottom line is that VEDS is not common enough to have it's own fundraising machine.  So we're working with the Marfan Foundation to get some visibility and support for VEDS.

Some Background

There are a number of genetic disorders that are classified as connective tissue disorders.  Marfan Syndrome is probably the most well known.  There are other connective tissue disorders, Loeys Dietz Syndrome, and Ehlers-Danlos Syndrome.  Within Ehlers-Danlos, there are 13 subtypes.  The common trait of all these disorders is that they are caused by genetic mutations and they're related to connective tissues.  You can read about Ehlers-Danlos subtypes at this wikipedia page

Vascular Ehlers-Danlos is one of the most serious subtypes.  I'm raising money, with my son's consent, to help organizations fund research and treatment for all families that are dealing with this.   If you would like to support me, please go here

Here's a lot more about the differences between Marfan Syndrome and vascular Ehlers-Danlos Syndrome. The TL;DR version of what's written below, Marfan Syndrome and VEDS - are similar in that they're connective tissue related.  VEDS is a much nastier disorder.  Help us help the researchers.  

Genetic Basis:

Marfan Syndrome and VEDS are both genetic disorders, but they result from mutations in different genes. Marfan Syndrome primarily stems from mutations in the FBN1 gene, which encodes fibrillin-1, a protein crucial for maintaining the integrity of connective tissue. On the other hand, VEDS is caused by mutations in the COL3A1 gene, responsible for producing type III collagen, a key component of blood vessels and organs' structural support.

Connective Tissue Involvement:

Connective tissue plays a pivotal role in both conditions, but the specific manifestations differ. In Marfan Syndrome, the connective tissue abnormalities primarily affect the skeletal system, eyes, and cardiovascular system. Individuals with Marfan Syndrome often exhibit characteristics such as tall stature, long limbs, joint hypermobility, scoliosis, lens dislocation, and aortic root dilation.

In contrast, VEDS primarily affects the blood vessels and internal organs due to the fragility of collagen type III. Patients with VEDS are at high risk of vascular complications, including arterial dissections, aneurysms, and organ ruptures. Skin fragility, easy bruising, and thin translucent skin are also common features of VEDS, reflecting the systemic nature of collagen defects.

Cardiovascular Involvement:

While both conditions involve the cardiovascular system, the nature of cardiovascular complications differs significantly. In Marfan Syndrome, aortic root dilation and subsequent aortic dissections represent the most serious cardiovascular manifestations. Regular cardiac monitoring and, in some cases, surgical intervention are necessary to manage aortic complications and reduce the risk of life-threatening events.

In VEDS, arterial ruptures and dissections can occur throughout the body, affecting various arteries beyond the aorta. These spontaneous vascular events pose a significant risk of sudden death and require vigilant monitoring and proactive management strategies. Unlike in Marfan Syndrome, where aortic root dilation is a prominent feature, VEDS patients may not always present with obvious aortic enlargement before a catastrophic vascular event occurs.

Management and Prognosis:

Managing Marfan Syndrome and VEDS involves multidisciplinary care aimed at addressing specific symptoms and reducing the risk of complications. However, the management strategies differ due to the distinct nature of each condition's primary manifestations.

In Marfan Syndrome, management often revolves around cardiovascular surveillance, orthopedic interventions for skeletal abnormalities, and ophthalmologic monitoring for vision-related issues. Medications such as beta-blockers may be prescribed to reduce the risk of aortic dissections.

For VEDS, management focuses on minimizing the risk of vascular complications through lifestyle modifications, avoiding activities that increase the likelihood of trauma, and close monitoring for signs of arterial involvement. Surgical interventions may be necessary in some cases to repair or reinforce weakened blood vessels, although the high surgical risk complicates treatment decisions.

If you have questions or additions, please email me or contact me through your favorite messaging platform.  Thank you for your support.  Please help me support this cause so others don't have to face the same challenges.

Thanks

Steve

Saturday, February 10, 2024

Strength Against VEDS - my new cause

 

This is my son, Rob.  He's the one on the right.  He is one of the most generous, articulate, intelligent, and funny people I know. I'm not just saying that because he's my son, it's legit :-)

You may already know him.  You're lucky.

What you may not know is that he has a genetic disorder called Vascular Ehlers-Danlos Syndrome.  I'll provide more details below. Suffice it to say, it's a very shitty disorder.  In short, people with this disorder don't produce enough collagen.  Collagen is what helps tissues like blood vessel walls and internal organs stay together.  Without collagen, your tissues are prone to tear and rupture.  That's bad...really bad.

We only learned that Rob had this disorder in the last few years.  I only recently learned in the last month, that there are organizations that are trying to help.  I will get to my point, I learned that there are a family of connective tissue disorders and they're pretty rare.  In fact, we didn't know these organizations existed until Rob had emergency, life saving surgery in December.  The vascular surgeon connected us with the Connective Tissue Disorder group at Stanford Medical. 

Now that I know that this group exists, I dug into how they're funding research. They raise funds for families and research.  I am committing to this cause.  My first order of business is to start raising funds; I have signed up for the March for Victory Event on May 4th this year.   Please help me raise as much as I can by supporting this cause.  The link is conveniently provided below

Please Support the Strength Against VEDS team

More about VEDs - get your hankies ready.

If you want to know about how this disorder, visit the VEDS Movement community stories page
If you're like most people, you probably didn't know that this existed until you read it today.  Tragically, many people find out when someone close to them dies because they've had a burst blood vessel or organ.  A lot of times, that doctors don't even know about the condition.  You read the stories and you can't help but feel like you've been punched in the gut.

What you also learn from these stories is that many people discover that they've been affected by VEDS and they never knew it.  

Here's my personal experience

In the mid-80s, my brother-in-law passed away from a ruptured liver.  At the time, it was attributed to a weakened liver because he had hepatitis a few years before. In 1987, my father-in-law passed away from an aortic dissection that, after surgery, threw a clot.  They said it was because he was under a lot of stress. In 2010, my wife Sherri, collapsed and died from a burst cereberal artery.  They said in the ER, "it was the finger of God".

Now we know what it was. 

I know several other people affected.  Rob gave me permission to tell his story.  Others may too.  You'll hear those, if they choose.


Thanks for listening.  Reach me if you want to know more.
Steve