Marfacts: 18 + 19

Marfan Awareness

This story tragically highlights why it’s so important to raise awareness about Marfan Syndrome: so no other families have to suffer this same devastating loss, and so no more lives are cut short needlessly. I dream of a day when there are no more stories like this one. My heart goes out to Stevie’s family and friends, as well as all of the other families who’ve lost a loved one this way.

In honor of Marfan Syndrome awareness month, here’s yesterday and today’s Marfacts (provided by the wonderful Marfan Foundation and Marfmom).

Marfact #18: While there is no cure for Marfan syndrome, continuing advances in medical care and research are helping people with the disorder live longer and enjoy a better quality of life.

Marfact #19 (courtesy of the awesome Maya over at Marfmom): Consistent monitoring of the heart and aorta is vital for patients with Marfan syndrome. This leads to a greater likelihood of preventative surgery, which has better outcomes than emergency surgery after a dissection (tear of the aorta) has taken place. Most people with Marfan are on some sort of medication to keep their blood pressure very low in order to slow the growth of the aorta. Typically this is a beta blocker, but ARBs like losartan and irbersartan are currently being researched as well.

If you suspect that you or a family member may have Marfan Syndrome or a similar connective tissue disorder, please get evaluated by a medical professional (who is familiar with these disorders). Visit www.marfan.org for more information.

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Ehlers-Danlos Awareness Month – Facts 18-21

(You’ve probably noticed that I started grouping up the EDS facts instead of doing them once a day – this is because many of them make more sense together, when read one after the other.)

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Fact #18: Possible dental manifestations of EDS include a high palate, crowded teeth, gum disease and hypermobile tongue. Those with EDS are also more prone to cavities as well as weakness of both the enamel and tooth roots.

Fact #19: EDS can cause chronic debilitating pain throughout the entire body. Whether from chronic, repeated joint subluxations and dislocations or degenerative joint disease, this is often easily the most difficult aspect of daily life with EDS.

Fact #20: EDS can cause several gastrointestinal complications, one of the more serious being gastroparesis meaning: partial paralysis of the stomach causing food to remain in the stomach for longer than normal or preventing the stomach from emptying entirely.

Fact #21: When EDS is suspected it’s important to be thouroughly evaluated by a team of specialists such as an opthalmologist, geneticist, orthopedist and most importantly a cardiologist. It’s also important that those specialists be familiar and knowledgeable of connective tissue disorders such as EDS.

Ehlers-Danlos Awareness Month – Fact #14-17!

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#14: Though genetic testing is available even if the results are negative it cannot rule out the possibilty of EDS. This is because not all of the disorder causing mutations and variants have been identified, meaning that just because you don’t have a mutation known to be associated with EDS doesn’t mean you don’t have one that is as of yet undiscovered. This is why physical examination and clinical presentation is so important.

#15: There is no cure for EDS. Treatment is merely supportive and includes continual, close monitoring of the neccesary body systems and treating individual symptoms as they present whenever possible. Physiotherapy, occupational therapy, and orthopedic instruments can also prove helpful.

#16: Surgery is often needed in order to stabilize extremely loose joints and help prevent them from subluxating and dislocating. Because of the known fragility of the tissue in EDS as well as the poor, slow and sometimes incomplete wound healing the pros and cons of such procedures must be thoroughly measured. It’s also very important to have a surgeon who is knowledgeable of EDS and the different steps that should and can be taken to help ensure the best possible outcome and prevent further tissue damage.

#17: Currently EDS is estimated to occur in 1 out of every 5000 births worldwide, equally effecting men and women of every race and ethnicity.

Ehlers-Danlos Awareness Month – Fact #6-9!

Sorry for the lack of EDS facts! I’ve had a strange few days topped off with a horrible headache and the nausea that comes with it. I went to lay down at about 11:30 am yesterday after only being up for a few hours and ended up not being able to get up until 6:00 am this morning! I’ve been feeling pretty awful, even for me. I wish I could say I feel rested after all that sleep but I definitely don’t!

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Fact #6: EDS can also be associated with rare and/or serious conditions such as tethered cord, cervical cranial instability, cranial settling, dural ectasia and chiari malformation. It’s important to be evaluated for these conditions if you have EDS and begin experiencing unexplained or new neurological symptoms. It’s also important to make sure the radiologist reading your imaging results is aware of your disorder and these generally rare manifestations, so that they don’t misinterpret them or miss them altogether.

Fact #7: The many potential ocular manifestations of EDS can include: high myopia, cataracts, lens subluxation, glaucoma, retinal detachments, photophobia and macular degeneration.

Fact #8: Postural Orthostatic Tachycardia Syndrome is a common and potentially debilitating symptom of EDS caused by an abnormally large increase in heart rate upon moving from a sitting or laying position to a standing one. This is often accompanied by a fall in blood pressure and decrease in blood flow to the brain. Severe cases of POTS can potentially incapacitate those who suffer from it preventing them from attending school or work and/or leading a normal life.

Fact #9: Because of the unpredictable nature of connective tissue disorders like EDS, and the enormous array of possible symptoms they can cause, it’s recommended that individuals with positive or suspected diagnosis of them receive ongoing, long-term medical care – preferably by specialists knowledgeable of the unique and possible complications they may cause.

If It’s Meant To Be

There’s a debate I see in different places on the internet, about whether a person with a genetic disorder should – or even has the right to – have a child when there’s a chance that they too will suffer from the same disorder. In this case I’m speaking of Marfan Syndrome and similar disorders. Is it okay for someone with this disorder to risk passing it on to a child? And, as with any issue, there are a lot of very opinionated people, people who strongly and loudly object, saying that it’s selfish and wrong. And just to clarify, this is my opinion on this matter only in relation to Marfan Syndrome and similar disorders, not the many other genetic disorders in which I’m unqualified to have an educated opinion.

Now, my mom didn’t have the disorder, neither of my parents did. I received the defected gene that causes a tissue disorder via what’s known as “spontaneous mutation”. Meaning, the gene wasn’t inherited, it just mutated on it’s own. This is the case in approximately 1 out of 4 instances of MFS. But, had one of my parents had the disorder already and still chosen to risk it by having biological children here is what my stance is on the issue:

I suffer because of this disorder, I do. I’m always in pain, I’ve had 7 surgeries, I take many medications with many side effects. I worry, about my future, about my heart, about in what way this disorder is going to affect my body next. So yes, clearly, I struggle because of this disorder.

But the thing is, I am who I am because of this disorder and the things that suffering has taught me. I feel like this life has opened my eyes to things that I wouldn’t miss for the world. Things like compassion and understanding and passion. You need to be passionate about the things that you do have in your life, or the struggle wouldn’t be worth the reward those things give you. I’ve been given the ability and the need to fight in order to live and in the end living becomes something that holds so much more meaning because of it. And maybe I live a life that hands me days where all I’ve accomplished is not giving up, but I also live a life that’s been blessed with only the most amazing people to help me through it. I am happy to be here, no matter how much it hurts, no matter how often I question whether or not I can handle it anymore. So, if you asked me; had I seen this life – the good, the bad, the people, the tears, the love, the pain – and been given the choice, would I have chosen to be born to this life, to this disorder? Yes.

Had my mom known there was a chance that I would have this disorder, and decided that it wasn’t worth the risk then none of this would’ve happened. None of the laughter, none of the smiles, the heartbreak, the hugs, the lessons about life that only pain – physical or emotional – can teach you. No “Marfamily” to lean on and learn from, no words of strength from the other side of the world, from strangers in nature but family and dear loved ones in circumstance. And, maybe I’m crazy for it but I would not change those things.

There is suffering everywhere in the world, in numbers incomprehensible, and in ways unimaginable. I have a roof over my head, food in my stomach, a home, a family and yes, I happen to have Marfan Syndrome, I happen to be in pain. But it’s part of life, it’s part of my life. And one day, if my life should allow it, and I need to make a choice: to risk having a child with my disorder, or not, I know my decision. And I know that it’s the right one because no matter what that child may face because of it, they will face it with a love unwavering and unconditional, and a strength unlike any other. If it’s meant to be, it will be.