Bouncing for Shwachman-Diamond Syndrome (SDS)! Long Island Parents Hold Bounce-House Fundraiser

September 27, 2014

Balancing fun while managing the seriousness of their son’s rare disease is something the Del Re’s have learned to do.

Now 2 years old, Anthony was diagnosed at 8 months old with an extremely rare genetic disease, called Shwachman-Diamond Syndrome (SDS). It affects the blood, pancreas, and skeletal and immune systems.  Of children with SDS, 30 percent develop leukemia or aplastic anemia and require a bone marrow transplant during the course of their lives.

Anthony is the first child diagnosed on Staten Island, and now is only one of two confirmed cases on the Island, according to his father Christian Del Re.

“Since his birth, Anthony’s life has been a roller coaster,” wrote Mr. Del Re in an email.

A fundraiser for the Shwachman-Diamond Syndrome Foundation to support research into the rare diseaseWhen
Sept. 28, 6 to 8 pm.Where
Party Jam, 75 Ellis St., Tottenville

What’s happening

A room full of bouncy houses — where socks — and tons of raffles

Admission donation: $15 per child and $5 for adult

He and his wife Gina have planned a fundraiser Thursday, Sept. 25, called Bouncing for SDS. In addition to providing a good time for kids, proceeds will go to the Shwachman-Diamond Syndrome Foundation (SDSF) which funds research for better treatments — such as gene therapy —  and ultimately a cure. The Del Re’s are active with the board of the organization.

“We know that it is up to us, the family to raise awareness and to help find a cure.  Without the support of [the families] the strides that have been made in working towards a cure for SDS would not have been made. We are exhausted, to say the least, but we owe it to Anthony and children with SDS to help them live a normal life,” Mr. Del Re said. 

Dedication to helping others with the disease is all part of enjoying family life with Anthony and his older brother Nicholas, 4, while riding the “roller coaster” that the symptoms of the disease has them on.

Signs of the disease began when Anthony was born prematurely in February 2012 and put in neonatal intensive care. He was diagnosed with hypopituitarism which affects the development of growth hormones. He has been on hydrocortisone and growth hormone ever since. He is currently still below the third percentile for his growth and weight. He has also developed neutropenia, another rare disorder, which makes him very susceptible to infections.

Anthony and his parents are also contributing to the study of the disease. None of his physicians had heard of it before his birth. Now he is a case study at Staten Island University Hospital due to his two rare disorders.

Anthony also receives care at Cohen Children’s Medical Center in New Hyde Park, N.Y. He is under the care of a hematologist, endocrinologist and gastroenterologist. He is scheduled in November for his first yearly bone marrow biopsy.

The Del Re’s have also been heartened by the many local businesses that have contributed to the fundraiser, resulting in over 40 raffle baskets: Twisted Dish Tavern, Louie’s Continental, Dock’s, Nucci’s South, Venice Jewelers, Hair Sap, LaVida Massage, Party Jam, Beeline Entertainment, Rab’s Country Lanes, Shades of Color Hair Salon, Koolest Shoes, Aunt Butchie’s, Creative Nail and Spa, and Pinot’s Palette.


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