Families help establish research center
Six years ago, Jennifer and Christopher Iannuzzi of Wilton found out their third child, their daughter Sydney, was born with Smith-Magenis syndrome (SMS), a genetic condition that afflicts only thousands worldwide.
Three years ago Ms. Iannuzzi and Missy Longman, a Florida mother of a child with SMS, founded the Smith-Magenis Syndrome Research Foundation. In the ensuing years it had been a grassroots effort — with no brick-and-mortar establishment beyond the women’s homes — dedicated to raising money to support research into this “orphan” condition.
That is true no longer. On Sept. 30, Ms. Iannuzzi and Ms. Longman presented a $100,000 check to researchers at the Baylor College of Medicine to establish a new center focused on expanding research into this complex genomic disorder.
The center will be named the SMS Initiative sponsored by the SMS Research Foundation at BCM. The foundation will contribute $300,000 over five years to establish a fellowship and research program.
Through the years Ms. Iannuzzi has had two goals: to promote research and get as many researchers as possible working on SMS.
This is not the first grant the foundation has given. In May 2011 the foundation gave $50,000 to Dr. James R. Lupski and the following year it gave $50,000 to Dr. Sarah Elsea. Both are now with Baylor College of Medicine.
While $200,000 is a sizable amount of money, Ms. Iannuzzi realizes it is a paltry sum in the world of medical research. To help the foundation put its money where it will do the most good, it has a science advisory board — headed up by Christopher Iannuzzi, who is a radiation oncologist affiliated with St. Vincent’s Medical Center in Bridgeport — to review all grant requests.
The SMS Initiative at Baylor got a boost when Dr. Elsea moved her lab there in 2012. She and Dr. Lupski are the premier researchers working on SMS, and now they will be better able to share information. Dr. Elsea is associate professor of molecular and human genetics at BCM, and Dr. Lupski is the Cullen professor and vice chair of molecular genetics there. They will help direct the program.
“We are creating something tangible to our donors,” Ms. Iannuzzi said of the initiative.
“One of the most important things is building trust in donors,” she said. This move “is helping build a foundation and people realize how important research is.”
SMS may be rare, she said, but it can happen to anyone. It is not hereditary and occurs in approximately one in 25,000 births. The disorder results when a small piece of genetic material — the protein RAI 1 — is missing from chromosome 17. Smith-Magenis syndrome affects many parts of the body. Individuals may have mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, obesity, sleep disturbance, and behavioral problems. Among those behavioral problems are emotional outbursts — tantrums — that are uncontrollable.
When Ms. Iannuzzi first found herself immersed in the world around SMS, she found very few health care professionals who knew about — much less understood — the disorder. The only organization she could turn to was Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS/prisms.org), essentially a support group. That is how she met Ms. Longman.
The program at Baylor will enable trainees (graduate students or postdoctoral fellows) to learn, develop and focus research efforts on Smith-Magenis syndrome, with special focus on the function and regulation of the RAI1 gene.
Ms. Iannuzzi realizes that a cure for Sydney is out of reach right now, but what she would like to see is research that helps her feel “more comfortable in her own skin. Aside from their work with the protein, work on what can make her more comfortable, improve her quality of life” is important to her. Both doctors acknowledged that.
“The need for organizations such as the Smith-Magenis Syndrome Research Foundation to support the ever-declining research funding base is incredibly important to advance our understanding of rare disease,” Dr. Elsea said in a press release. The work the grant supports “will help to answer some very difficult questions, provide better understanding of the molecular pathology behind Smith-Magenis syndrome, and we hope will lead to therapeutic interventions for individuals with this disorder.”
“With this new funding and center, we will advance our understanding of the function of this important gene,” Dr. Lupski said. “This is critical to move toward appropriately targeted therapeutic intervention.”
Researchers also hope to learn more about the mechanisms for Smith-Magenis syndrome and other genomic disorders due to copy number variation (CNV) in the human genome. Molecular and clinical studies of patients with Smith-Magenis syndrome at BCM and Texas Children’s Hospital have been at the forefront of research in genomic disorders for almost two decades, Dr. Lupski said.
All these donations have been built through low-tech fund-raising efforts that have been very successful. A spinathon was Ms. Iannuzzi’s first foray into fund raising. A 5K run in Georgetown two years ago raised $28,0000. Snappy Gator in Wilton Center had shopping nights in November 2010 and April 2011, when T-shirts with the Chinese symbol for strength were sold. A family friend in Scarsdale helped the foundation with a triathlon that raised $48,000.
As a result of their efforts, more people with SMS children are coming forward willing to put together fund-raisers. Just last week, an anonymous SMS family offered the foundation a $10,000 challenge grant.
With the SMS Initiative at Baylor, Ms. Iannuzzi now feels more confident approaching larger possible donors. “I feel more confident bringing something to the table,” she said. A difficulty has been making donors realize “this is not for the Iannuzzi family.”
Ms. Iannuzzi feels she can also spend more time explaining why people should support SMS research.
“If people don’t understand the syndrome, they won’t give.” Through her blog, strengthforsydney.org, she “lets people know the syndrome on a personal level.”
Sydney Iannuzzi is now 7 years old and her mother describes her as “one of the sweetest, purest” of children. “There’s nothing fake about her.”
Unfortunately, Sydney cannot control the emotional outbursts that are a hallmark of the disorder and she is developmentally delayed. But when she is “not in a bad place” she is a very charming and loving little girl. That loving spirit is also common to SMS children.
In a recent post, Ms. Iannuzzi wrote: “There is a part of Sydney that has matured. She no longer accepts being left out of the loop. She wants to be a part of whatever is going on around her. She yearns to be social and has become very curious about the world around her. Unfortunately, there is another part of her that still remains infantile in her mannerisms and gestures. Her speech, although has greatly improved, continues to be difficult to understand and her response to chaos results in toddler-like meltdowns. It is this dichotomy that draws attention to us. Attention that I find very uncomfortable. Sydney’s need to be included has posed quite a challenge for me. Plain and simple, when we are out in a public space there is no place to hide and the disability is on full display for everyone to see.”
Beyond the SMS Initiative at Baylor, Ms. Iannuzzi said, her “grand plan would be a center for excellence.”
She is moving slowly toward that goal by creating a “hub” of SMS knowledge and awareness in Boston, where Sydney is treated by a psychiatrist. Since she became his patient, the psychiatrist has taken on several other SMS children. He was unfamiliar with the disorder when they first saw him, Ms. Iannuzzi said, but he had an open mind to all it entailed.
“It’s hard to go to a physician and tell them what the problem is,” Ms. Iannuzzi said. Through Boston Children’s Hospital she is trying to familiarize a number of physicians with SMS so families will have a center of knowledge to turn to when they receive a diagnosis instead of feeling at sea.
For information, visit smsresearchfoundation.org.
Jennifer Iannuzzi is continuing in her fund-raising efforts with two events coming up in November.
There will be a Strength for Sydney Spin-A-Thon, Sunday, Nov. 10, 9 to noon, at Elevation Spin in Wilton. The donation is $25/hour.
One of Ms. Iannuzzi’s goals has been to run a marathon, and she will do so on Nov. 17, which happens to be SMS Awareness Day. She and another mother with an SMS child, Maeve Townsend of Pleasantville, N.Y., will run in the Philadelphia Marathon. Supporters may make a donation of any amount.
For information, visit smsresearchfoundation.org.
Donations may be directed to SMS Research Foundation Inc., 18620 SW 39th Street, Miramar FL 33029.