Monday, September 18, 2006
Despite rare illness, positive outlook shines
By Melissa A. Hoffmann/ Staff Writer
Friday, September 15, 2006 - Updated: 05:50 PM EST
Sam Hoffman likes to spin. Sitting on a swivel barstool next to the kitchen table, he pushes himself around and around until any other person would be sick - particularly after eating the amount of candy Sam has consumed.
Anyone would think that the eight year old is just a normal, energetic third grader. Except that he’s not.
Today, Sam is at New York City’s Sloan-Kettering Cancer Center, awaiting a bone marrow transplant.
At 11 months old, Sam was diagnosed with Franconi Anemia, a rare genetic disorder affecting only 3,000 people around the world - although only half of those cases are diagnosed. Manifesting symptoms of the disease, he was born with a single kidney and a second thumb on his right hand (which was removed shortly after his birth).
Sam and his dad.
’As healthy as it gets’
Last Thursday, Sam and his family - his parents Judy and Jeff, and older sister Caren - took a break from their frantic packing and sat around the table to give a visitor a quick lesson in Sam’s disease and where they go from here.
Fanconi Anemia, Jeff explained, is a bone marrow failure disease, and a rare genetic disorder. The parents both have to be carriers of the gene - and if that is the case, their offspring have a 25 percent chance of being born with the disease.
"It’s like hitting the gene pool lottery," Judy said, noting that the disorder causes recessive traits to become dominant: short stature, fair complexion and hair.
F.A. can lead to other diseases, such as leukemia, diabetes and other cancers. Every six months, Sam has undergone "bone marrow aspiration," involving the removal of a sample of marrow from the hip for testing to make sure no leukemia cells are developing. At this point, Sam is clean.
However, he is transfusion-dependent, requiring monthly procedures.
"He’s as healthy as it gets, going into transplant, for a really sick kid," his mom said, adding that this is where one wants to be heading into a bone marrow transplant. Treatment is much harder if leukemia is already developing.
Funding = research
Sam’s parents are not only their son’s greatest medical advocates, but they have worked hard to raise money for the Fanconi Anemia Research Fund as well. In fact, the Hoffmans are among the top five F.A. fundraisers in the country, raising $100,000.
"It’s an orphan disease," Judy said, explaining their motivation. "It doesn’t attract any money."
Jeff pointed out that the fundraising done by F.A. families pays off. When Sam was born, he would have had a 15 percent chance of surviving a bone marrow transplant. Today, that chance is 80 percent. "That’s thanks to research," Jeff said.
"All of the patients who have Sam’s medical characteristics are all alive and well two years post-transplant," he added.
The transplant should happen on Sept. 20 or 21. This week, at Sloan-Kettering, Sam was "tattooed" for radiation purposes; before the transplant occurs, he will undergo massive radiation to basically kill his immune system.
"He’ll be sick as a dog," Jeff said. Sam, still spinning, nodded.
The actual transplant takes five minutes, Jeff continued, and involves injecting the healthy marrow into a central line. The recovery - during which his family will remain in New York, for about six months - is the hard part. But by day 15 post-transplant, he should be feeling better.
"The only part I don’t like is the recovery," Sam said. He stopped moving for a moment to think. "If I had a choice between going to transplant and not getting better ... I’m fine with it."
All in the family
When Sam loses his hair from the radiation treatment, he’ll have a partner. "Daddy’s going to go bald too," he said. Jeff confirmed that he will shave his head as a sign of support for his son.
Judy and Caren will support Sam in spirit. "I worked long and hard to grow this out," Caren said, holding up her own long braid.
Despite her reluctance to shave her head, Judy said Caren is a great sister. "She’s the best big sister and daughter and person," she said. "She is going to be such a huge, huge help."
Sam will probably spend many hours in New York on his favorite pastime: video games. He said he wants to create games when he grows up, and noted that he can beat his sister any time. It’s all in the thumb.
He explained that his deformed thumb lets him push more than one button at a time, leading him to win many a game. His mother said that when she suggested more surgery to correct the thumb after transplant, Sam said no - it would remove his video game advantage.
A group of Harvard residents have joined together to raise funds to help the family with their stay in New York. "[F.A.] crushes you financially," Jeff said.
Judy, Caren and Sam will be staying at the Ronald McDonald House in Manhattan (Jeff has a studio apartment in New Jersey, where he works), at a cost of $35 per night. This doesn’t take into account any other expenses, such as food for Judy and Caren, or Sam’s medical bills.
The group will have a booth at this weekend’s Fall Festival, and will hold a walk-a-thon at the McCurdy track on Oct. 15. Sign-ups are available at the Fall Festival.
Not to be outdone, Caren’s eighth-grade classmates are planning a car wash for Saturday, Sept. 23, from 9 a.m. to 2 p.m. at the Transfer Station.
The Bromfield community is rallying round Caren: her teachers will send her a week’s worth of work via the Internet. She will work with a tutor in New York as well (at a cost of $45 per hour, reduced from the actual rate of $110 per hour).
And a Harvard family is renting Judy’s home while they are in New York. "Another Harvard family is helping us," Judy said. "This community has been great."
Strong mind, strong body
Sam’s parents have worked hard to make sure that his life has been as normal as possible. "He’s got a great, great, great quality of life," Judy said.
Jeff said that he and Judy have worked to instill a positive attitude into their children from the moment they were born: "Strong mind, strong body."
"You never know what you can do," Judy said. "You have to keep trying, and if you have a positive attitude you can succeed - and we will."
That being said, Judy said that they have not hidden any of the disease’s more frightening aspects from their son. "We feel as parents that would be wrong to do," she said.
Jeff said that he has had in-depth conversations with his son about death.
But last week Sam’s positive outlook was shining through. He cheerfully said that not only did he get a perfect match on the National Bone Marrow Donor Registry, he got three perfect matches.
"There’s nothing wrong that can happen with three perfect matches," he said. "If one fails we can quickly do another."
He took another spin around on the chair. "I’m one of the luckiest people on Earth."
For updates on Sam’s progress, visit him online at www.caringbridge.org/visit/samhoffman. For more information of Fanconi Anemia, visit www.fanconi.org.