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Aberdeen mother works to bring attention to rare disorder

March 15, 2021 GMT

ABERDEEN, S.D. (AP) — An Aberdeen mother is working to bring awareness to a relatively rare condition that’s struck her family twice.

Marfan syndrome is a genetic disorder that affects connective tissue, the heart, eyes, blood vessels, bones and more.

With those symptoms, people with the condition oftentimes are tall with legs, fingers and toes that are thin and long, according to the Mayo Clinic. It’s estimated that there are fewer than 200,000 Marfan syndrome cases in the U.S. That averages out to about one in 5,000 people, according to Jessica Sumption.

Jessica’s husband Derek, 40, and their daughter Lilly, 12, have both been diagnosed with Marfan syndrome.

Jessica first noticed signs of Marfan syndrome after Lilly’s eyesight started deteriorating.

When Lilly was little, she would read books close to her face and stand in front of the television due to her eyesight. That’s when Jessica searched for answers.

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After going to doctor appointments, it was confirmed that the lenses in Lilly’s eyes were dislocated.

“They told us they wouldn’t recommend inserting new lenses because their connective tissue is not strong enough and they more than likely would dislocate,” Jessica said. “But, in a year’s time maybe, the science would be better and maybe they could do something.”

For Derek and Lilly, it’s brought a sense of bonding between the two.

“I do feel like dad and I have a bond because if there is something I don’t know, I can always ask him,” Lilly said.

Derek and Lilly have been affected in ways beyond their eyesight.

Marfan syndrome, if not found and diagnosed, can be life-threatening.

“People who have it are at a higher risk for things like aortic dissections and aortic aneurysms,” Jessica said. “So if you’re a person who has that syndrome, a lot of the time doctors are saying you shouldn’t be doing things like playing competitive sports.”

Both Derek and Lilly take medication to slow their heart rate down and lower their blood pressure in order to decrease chances of aortic dissection, according to Jessica.

Along with medication that the two take, they have also had surgery done. Derek has had reconstructive surgery on his chest, open heart surgery and a bilateral lensectomy. Lilly has also had bilateral lensectomy and additional surgeries due to retinal tears.

“Having a daughter with Marfan syndrome makes me worry that she has to go through surgeries,” Derek said.

There is no known cure for Marfan syndrome. But there are resources.

The Northern Plains Marfan Group includes residents from the Dakotas and is a chapter of the national organization, The Marfan Foundation. Before COVID-19 changed things, the Northern Plains Marfan Group would frequently host meet-ups.

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“To be honest, my husband didn’t know anybody else who had Marfan syndrome until a few years ago when we went to that conference. And so, that was really nice because you get to meet other people who have been diagnosed with it,” Jessica said.

Statistically, approximately 1 in 5,000 people have Marfan syndrome – with roughly 75% of those being inherited from a parent, Jessica said.

Gov. Kristi Noem signed an executive proclamation on Jan. 26, which declared February as Marfan Syndrome Awareness Month. With the proclamation, Jessica hopes that more parents become aware of the syndrome and can catch symptoms early.

“If you think there’s something that your child is dealing with, get answers, seek answers. If you think, ‘Oh, boy, my child is having a hard time with their vision,’ don’t stop at the first doctor if they say, ’Oh, no, it’s just behavior,” Jessica said. “As a parent, you know your child better than anybody.”