Stories about: genetic conditions

Boston Children’s brings CLARITY to families living with complex diseases

Genome sequencing may help parents of children with rare disease

The future of medicine is closer than you think. Today, scientists are able to learn more than ever about how our genes are likely to affect our health—and the diseases or conditions we may face later in life—thanks to a process known as genome sequencing (in-depth studying of our DNA). And because of technological advances made in recent years, the process has become less expensive, meaning it could soon be an important aspect of everyday care. (A decade ago it cost $3 million to sequence a person’s genes. Today the process runs about $1,000.)

But, as with any emerging technology, genome sequencing is experiencing a few growing pains as it becomes more commonplace.

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Do I have the strength to be a marathon parent?

Riley

Riley Cerabona is a Boston Children’s Hospital patient with a rare vascular anomaly syndrome called CLOVES Syndrome (Congenital, Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies) that creates “lumps and bumps” on the inside and outside of her body. Boston Public Radio, WBUR, recently covered her story in great detail.

Boston Children’s researchers have just made a discovery that could one day help Riley and patients like her. By studying the DNA of CLOVES patients, Boston Children’s doctors have pinpointed the genetic cause of CLOVES, just one year after their research project began—and only a few years after first identifying the syndrome. The discovery opens doors to targeted treatment of the condition and to further understanding of other, similar disorders.

In the following blog, Riley’s mother Kristen talks about what’s it’s like to raise a child with such a rare medical condition.

Becoming a parent is an act of love and faith that no amount of planning can ever really prepare you for. And once you begin raising your child, the changes you go through as a person are profound. Raising a child with a rare disease is even more life altering.

You experience all the love, hope and joy, but it’s mixed with almost constant anxiety, stress and strained financial budgets. It requires focus, discipline and intense endurance, but it’s also rewarding and empowering. That’s why I call it marathon parenting.

Riley receives treatment at Boston Children's

Marathon parenting can be hard to adjust to. (I always saw myself as more of a short-distance walker.) But sometimes life throws you into a race without giving you time to train; you just need to rise to the challenge.

I became a marathon parent early, before my daughter Riley was even born. At 18 weeks gestation, she was diagnosed with a lymphatic malformation in her chest and armpit. Our doctor had no experience with this type of vascular anomaly, so we did some research to find the person who could best help our baby. The search led us to Dr. Steven Fishman at Boston Children’s Vascular Anomalies Center.

Under the care of Dr. Fishman and his amazing team, Riley had the malformation and overgrowth removed at just 3 months old. Unfortunately the lesions continued to grow in and on the outside of her body. The Vascular Anomalies Center team did a great job caring for Riley, but weren’t fully sure what was causing the new malformations. (CLOVES was so rare it hadn’t been identified by doctors yet.) As she grew she needed more surgeries and medical interventions. At just 9 years old, Riley has had 16 surgeries, 32 MRIs and countless hospital visits.

Riley with members of her care team (Ed Smith, MD and Steven Fishman, MD)

By the time Riley was 5, Boston Children’s researchers had identified CLOVES as a specific syndrome, and she was diagnosed with it. It’s a progressive and very rare condition, affecting less than 100 people worldwide. Once Riley had a diagnosis I immediately starting searching for other people who were living with CLOVES so I could figure out what to expect. My searches turned up a few articles in medical journal articles, but little else. What I really wanted was to connect with other families dealing with what we were, but there were none.

It was disheartening, but as I was learning, marathon parents can’t let hurdles ruin their race. I began collecting and sharing information and stories about our lives online, and soon other CLOVES families joined us. Since launching in 2009, our CLOVES Syndrome Community has grown by leaps and bounds.

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Happy birthday, President Lincoln. Now, about that Marfan syndrome …

We know he was tall, honest and a great speaker, but did America’s most beloved president also have a serious genetic disorder? According to many in the scientific community, the answer is yes.  A standing theory is that Abe Lincoln may have had Marfan syndrome, a serious genetic disorder that weakens the connective tissues that provide substance, shape and support to many parts of the body. Lincoln’s postmortem Marfan diagnosis has been the subject of magazines articles and medical books; based largely on his physical stature, which is very much in tune with that of many people with Marfan who tend to be tall and lanky, with long arms, fingers, legs and faces. As we know from his many potraits, Lincoln had these traits in spades.

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