Deleena Therien has worried about her 2-year-old daughter, Ivy Nguyen, since her birth. From her first days, Ivy had little interest in eating and weighed much less than her twin brother, Oliver. As the siblings grew, Ivy wasn’t walking or talking like Oliver, either. And instead of hugging her parents, she pushed them away.
During Ivy’s early years, Deleena and her husband searched for answers.
They took Ivy to doctors in Vancouver where they lived. Ivy was diagnosed with heart abnormalities, developmental delays and autism. But the testing failed to pinpoint the underlying cause of Ivy’s multiple conditions.
Then, in the spring of 2020, a Vancouver geneticist diagnosed Ivy with Myhre syndrome. The doctor told the family the condition was extremely rare. All she could do was give them a fact sheet. Deleena had nowhere to turn.
Deleena felt completely alone until she met Dr. Lin at MGHfC.
Worldwide, at least 300 patients have been diagnosed with Myhre syndrome, a rare disorder caused in part by genetics. Characteristics can include delayed development, short stature and problems with the heart, lungs and blood vessels.
Deleena found Dr. Lin through a Myhre syndrome Facebook group. Dr. Lin, an international expert in Myhre syndrome, understood how the diagnosis could be isolating for patients and families and immediately called Deleena.
Ivy’s diagnosis came at a time when the COVID-19 pandemic shut down air travel in Canada and the United States. Dr. Lin and Mark Lindsay, MD, PHD, a pediatric cardiologist and co-director of the Myhre Syndrome Clinic, met Deleena and Ivy through a virtual appointment, which was an option available to patients during part of the pandemic.
Deleena found what she wanted most — accurate information. She learned Myhre syndrome can affect almost every part of a child’s body, and that Ivy’s heart problems, autism and being nonverbal were common traits.
Dr. Lin invited Deleena to become part of her community, which she has built through the Myhre Syndrome Clinic and its website that posts new research findings and patients’ stories.
After the virtual visit, Dr. Lin also connected with Ivy’s doctors in Vancouver.
“Honestly, I think of Dr. Lin as a guardian angel,” Deleena says. “I felt extremely alone that day when I got Ivy’s diagnosis, but I don’t feel alone anymore.” Deleena looks forward to bringing Ivy to the clinic to meet Drs. Lin and Lindsay in person this summer.
At Her Own Pace
Today, Ivy’s medical conditions are better controlled, Deleena says. And she understands that Ivy has her own timeline. She started walking and cuddling with her parents.
“My husband and I want a cure. We know other parents feel the same way. And we know it’s going to take a long time, but that’s one reason we began asking for donations.”
Deleena also taught her daughter how to give a kiss. Ivy, now 3, followed her mother’s prompts and puckered up, planting a kiss on Deleena’s cheek. The simple gesture brought her so much joy, Deleena says.
Fundraising for Myhre Syndrome
Grateful for Dr. Lin’s support, in November 2020, Deleena joined Mass General’s BeCause community and started an online fundraising page for research at the Myhre Syndrome Clinic where Dr. Lin treats children and adults.
Patients also have access to Dr. Lindsay’s expertise in cardiology as well as specialists at Mass General in genetics, pulmonology, dermatology and more.
Deleena’s fundraising will support Dr. Lindsay’s work to investigate blood vessels in people with Myhre syndrome.
“My husband and I want a cure. We know other parents feel the same way. And we know it’s going to take a long time, but that’s one reason we began asking for donations,” Deleena explains.
So far, they have raised more than $34,000 in Canadian dollars from friends and family members.
How You Can Help
Philanthropy has already made a difference. Funding from the Myhre Foundation will cover the cost for a clinical researcher this summer.
“I love my patients. The families are my teachers.”
With more support, Dr. Lin would like to expand her database of patients’ symptoms. Although researchers know Myhre syndrome is caused by a gene, Dr. Lin and her team are looking for other factors to explain why some children experience mild symptoms and others have significant symptoms.
“The gratitude of patients and families is really encouraging,” Dr Lin says. “I love my patients. The families are my teachers. They share anecdotes about their children that help me better understand Myhre syndrome. Together, we will find new treatments, and, ultimately, a cure.”
Deleena Therien with her daughter, Ivy Nguyen, who has Myhre syndrome, a rare disorder.