Finding a medical home away from home with a rare disease diagnosis: Anna's story

When Kathy Young’s daughter, Anna, was diagnosed with Myhre syndrome at 16, she was unsure of where to turn. Most of Anna’s doctors were unfamiliar with the very rare genetic condition. As any concerned parent would do, Kathy scoured the internet for answers when she came across a research paper from France, which included Angela Lin, MD, a medical geneticist at Mass General for Children (MGfC) and Massachusetts General Hospital. She has become a leading expert on Myhre syndrome.

A gut feeling told Kathy that Lin and her colleagues would be Anna’s go-to providers. In November 2014, Anna and her parents traveled to Boston from their home in Charlottesville, Va. Since that first appointment, Anna, now 19, has found a medical home at the Myhre Syndrome Clinic and learned how to live her life to its full potential. For Kathy, her daughter’s diagnosis has taught her how to advocate for Anna and find a greater sense of purpose in caring for a child with a rare disease.

Myhre syndrome causes a wide variety of symptoms that range in severity, including a distinctive facial appearance and posture, short stature, learning challenges and heart problems. Since the first reported case in 1981 and the initial 60 cases reported in the literature, there at least 50-100 people estimated to have Myhre syndrome in the United States.

At the Myhre Syndrome Clinic at MGfC and Mass General, a primary goal is to provide and coordinate specialized care for the unique concerns that patients with Myhre syndrome face, including serious heart problems. Shortly after the Young’s arrival, Mark Lindsay, MD, a pediatric cardiologist at MGfC, recommended that Anna have a cardiac catheterization to check her heart. The procedure suggested a new problem with the heart muscle in addition to narrowing of the aorta, which Anna’s doctors in Virginia had found before. After a catheterization back home, the diagnosis of restrictive cardiomyopathy was confirmed - a diagnosis that will require a heart transplant in the future.

“Right now, Anna is listed as inactive on the transplant list because her quality of life is so good and her providers are keeping a close watch,” said Kathy. “Had we not come to Boston, we would have never known about her heart concerns. We knew we were in the right place after that.”

Coming to Boston also inspired Kathy to build a community for parents like her. She now runs a private Facebook group for families who children Myhre syndrome. “Myhre syndrome is so rare and many parents who join this group say they had no idea other families like theirs existed,” said Kathy. “I remember feeling very lost when Anna was first diagnosed because no one really knew a whole lot about her condition. You think you’re the only family out there until you meet someone else who is going through something similar. This group is a place for them to turn to and find support.”

As for Anna, knowing that the Myhre Syndrome Clinic is her medical home away from home has boosted her confidence, allowed her to live her life and cope with challenges. Anna attends a life and job skills program and has a job at a local pizza shop. She aspires to continue learning new skills and to keep her positive outlook on life.

“A positive attitude and joy are common traits in people who have Myhre syndrome, even though they face many medical challenges,” said Kathy. “Anna is no different. She is such a hard worker and even more importantly, she’s a happy person. And we are able to give her the best life and provide the best care that she needs because of what we’ve learned at the Myhre Syndrome Clinic.”

After their first meeting, Anna shared that joy with Lin in the form of a card next to her desk that Anna sent her two years ago. It contains a tiny silver heart and the words “Well done!” “It was a thank you note to me and the clinic team, but I think of it as a cheer for her spirit and her mother’s terrific support,” she said.