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Rare moms join together to bring attention to rare diseases

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Posted: Thursday, February 13, 2014 10:00 pm | Updated: 1:38 am, Fri May 16, 2014.

(BPT) - Every parent knows that caring for young children can wear you down to the bone. But imagine what that would be like if your child’s life was at risk every waking minute.

That’s just a normal day for Sarah Yang, whose daughter Madilyn was born prematurely in 2011, with a rare disease called Congenital Central Hypoventilation Syndrome (CCHS). The disease prevents her from breathing on her own if she falls asleep.

“We can’t lose eye contact with Madi for even five minutes or she could be dead,” says Yang. “It’s exhausting. I haven’t had a full night’s sleep since she was born. But it really helps to connect with other moms who know what it’s like. We’ve seen each other through a lot of rough times.”

Although the chances of being afflicted with CCHS are almost 10 million to 1, Yang is able to connect with two other moms in the Birmingham, Ala. area whose children also have CCHS. Plus, she knows two others in the area whose daughters also have rare diseases.

While these five “rare moms” have each other to turn to for solace and support, they know that most parents of children with rare diseases are much more likely to feel scared and isolated. So when Yang discovered last fall that Alabama was not doing anything to recognize Rare Disease Day, she took action.

Working with the chair of the Department of Genetics at the University of Alabama at Birmingham, Yang helped plan the state’s first ever Rare Disease Day event in 2014, a symposium for both medical professionals and the community. Rare Disease Day brings attention to the challenges and difficulties faced by people living with rare diseases and is celebrated every year February 28.

 “We hope to extend our support group from five moms to hundreds because together we are stronger,” says Yang. “I’d love to see more states offer these kinds of educational events.”

Although each rare disease affects fewer than 200,000 Americans, there are nearly 7,000 such diseases. That means nearly 30 million Americans are affected, two-thirds of whom are children.

“Everyone knows someone with a rare disease,” says Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD). “We need to join together to help those with rare diseases, who often have few, if any, treatment options and find it difficult to get a definitive diagnosis.”

NORD provides services for all people with rare disorders and has a network of more than 200 member organizations focused on individual conditions. It also has disease-specific programs such as Voices of MPN (www.voicesofmpn.com), which helps educate, empower and connect those affected by myeloproliferative neoplasms  -  a rare group of potentially deadly blood cancers.

Fortunately for Yang, her husband and her two older children, the everyday challenges of coping with Madi’s disease have gotten somewhat easier. Madi wasn’t discharged from the hospital until 5 1/2  months after her birth and spent the first 20 months of her life on a ventilator. But she now functions at roughly her age level, except for her speech, and attends preschool and does gymnastics.

Despite having to lug around a ventilator and other medical gear everywhere they go, Yang has managed to keep her family’s life as normal as possible. Her other young children, a boy and a girl, participate in sports, ballet and other activities. The family has even managed to travel quite a bit up and down the East Coast from New York to Miami.

Though Yang readily admits that some days can be stressful and overwhelming, she believes her family has been “incredibly blessed” and that Madi has enriched all their lives.

“We’ve learned to appreciate everything a lot more, like the first time Madi said ‘Momma’ when she was 19 months old,” says Yang. “Our children also have a better understanding and appreciation of children and adults who are ‘different.’ We’ve witnessed families who have lost children because of CCHS, and we feel so lucky to have Madi.”

Would you like to enrich your life while making a difference in the lives of millions of children like Madi? Then get involved in Rare Disease Day. Visit www.rarediseaseday.us to learn more or show your support by liking its Facebook page (www.facebook.com/rarediseasedayus) or following the Twitter feed (@RareDayUS) www.twitter.com/RareDayUS.

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