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.

Community support

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.

Last week was a week of firsts. On Thursday, Jack had his first saxophone lesson, and on Friday, Joe had his first real baseball game.

Jack had been wanting to learn to play my grandfather's, your great-grandfather's saxophone. I am sure you saw it. It was down in the basement in the black case. Jack has blown on it from time to time, but he wanted to learn how to play it for real. It is a beautiful instrument. It is silver. When Jack blows on it I think of Lisa Simpson.



Speaking of the Simpson's, that is about the only cartoon Jack is interested in anymore. Jack, Joe and I went to see a cartoon movie about baseball called, Everyone's Hero. Joe loved it, of course, but Jack was kinda bored. He is at the point where he prefers live action movies over cartoons. Realizing that made me sad, but that's life.

Jack, Mr. Grownup, is already thinking of the band that he can form with his buddies. I'd love for him to be in a band someday. I don't have a musical bone in my body, but I love listening to Mom and Jack play the piano.

And your little guy Joe finally got a chance to show his stuff. He is on the Pirates in the Capitol City Little League. Originally the team was the Red Sox but they changed it for some reason. Too bad.



The team is for 5-7 year olds but since Joe is almost 5 years old I figured he'd be okay. There are other 4 year olds on the team. We know a lot of the other parents already so that's nice.



Joe played really well. He got two hits and made it home. I am glad he is playing with a whole team now. He has lots of talent but he needs to learn about being a good sport and a good teammate. I tell him all the time that he needs to listen to his coaches. He isn't a very good listener and that is frustrating. Hopefully it is just me he doesn't listen to.



Here are two nice things I heard the past few days. During the game, right after Joe got a hit that went past the infield, the two coaches for his team said, "Who's his dad?" They were impressed with how far Joe can hit and they were thinking that someone is giving Joe good coaching.

I said I was Joe's dad, but I couldn't take any credit. That is the truth. He was born with great skills (something he got from Mom, not me) and he works very, very hard. But, of course, I was smiling inside.

Then on Sunday, Joe and I were playing baseball on the Mall near the Washington Monument. Joe insists on practicing all the time because he wants to be a professional ballplayer some day. Well a passerby who was watching him hit yelled over to me, "That kid will take care of your retirement." They meant that he's so good he'll play pro ball some day and make a lot of money.

If this was back when I was growing up I would think he might have a shot one day to play in the Major Leagues. But these days things are out-of-control crazy and parents start grooming -- which means getting them ready -- their kids for sports when they are super duper young. So I don't know if just being good is good enough any more.

Joe is only 4. Maybe next year he'll want to be an astronaut and not a big leaguer. What would be nice is if he coaches little kids when he grows up. And hopefully the kids he coaches will learn to be good listeners.

We had our 5% day at Whole Foods yesterday.



What an awesome balloon, huh. I like Whole Foods 'cause they give away balloons to kids. I'll shop anywhere that gives away balloons and lollipops. In high school when I worked at Sears at Montgomery Mall I would suck on the helium tank we used for balloons. I'd answer the phones with my voice sounding like the Mayor of Munchkinland. That was a great job.

The 5% fundraiser was a lot of fun for everyone. Jack and Joe ran around the store a lot. They gave out these stickers to all of the people buying food.



They are great salespeople.



The people working at Whole Foods were great, too and a lot of our friends came by and shopped. The money we made goes to Hope for Henry.

Nana and Papa Sy helped out and Pop Pop Teddy and his friend Jeri helped too.





--------------------------------------------------------------
From: Fadia Jawdat (MA GTN)
Sent: Friday, September 15, 2006 1:35 PM
To: Goldberg, Allen
Subject: RE: Thank you!

Mr. Goldberg,

The pleasure was ours. Please see below the content of the email I wrote Laurie this morning.

You and your family were amazing, and yes of course you boosted sales. We were happy to see so many of your friends and family members in the store.

I can only compare to last week’s Thursday sales and in that we saw a 9% increase for the day, even though last week was a little unusual in that it started off with Labor Day Monday. I think the work you all did in putting the word out, the ad, the stickers and above all your presence was outstanding. It felt like one big party and we were so thrilled we could present you with that opportunity.

I will strongly recommend you try our Rockville or Kentlands stores for next year for their consideration.

We love Katie and Mamadou too. I will forward your appreciations.

Warm regards from us all at WFM GTN.

Fadia


“Laurie,

Thank you all for being such an amazing presence and bringing in so many wonderful people.

It was a joy to host Hope for Henry Foundation. You will be receiving a check for $4,557.40.

Please email or call me with your FED ID # so I can put the check request through immediately.Also let me know if we should have a photo op with us presenting the check.

As for the real thing, would you like to pick it up at the store or would you like my regional office to mail it out.
Awaiting your reply.”


Fadia Jawdat
Marketing Specialist/Community Liaison
Whole Foods Market Georgetown
2323 Wisconsin Avenue NW
Washington, DC 20007
202-333-5393
202-338-3829 direct line
________________________________________

Real 'fighter,' 14, to throw first pitchTuesday at Dolphin Stadium a remarkable young girl will be throwing the first pitch of the Marlins-Mets game.

BY MARIE DUMA-DIAZ
Special to The Miami Herald

The Miami area is turning out to be good for a New York girl who has spent much of 14 years battling myriad medical problems.

Brandi Lee Larkins and her family in Buffalo, N.Y., started getting very sick at age 6 and doctors eventually diagnosed her with a rare genetic condition that can often lead to leukemia and other illnesses.

Relatives and friends organized a car wash to raise funds for her in 2002, taking in $2,000.

Now, Brandi will take the spotlight at another fundraiser, this time to throw the first pitch in Tuesday night's game between the Florida Marlins and the New York Mets at Dolphin Stadium in Miami Gardens.

''I am happy and nervous,'' Brandi said as she got ready to practice her throw with neighbors Angelo Salemi, 13, and his brother Baily, 10.

Brandi and her family will be traveling to Miami for the game, courtesy of the Donald Slayton Foundation.

After Brandi started getting sick 8 years ago, her family thought it was just a case of the flu until she coughed up blood and had a nose bleed. She was taken to the hospital and doctors found she suffered from Myelodysplastic Syndrome -- an inability to produce blood cells.

The condition is caused by Fanconi Anemia, a rare inherited bone-marrow failure syndrome that affects both children and adults. The disease may progress and convert into leukemia, said Brandi's mother, Jeannine Holas, who said she was shaken when she first learned about her daughter's diagnosis.

'At first, I thought, `Oh, it's just anemia,' then my stomach dropped down and my knees buckled when I heard 'leukemia' and all the possible complications,'' she said.

As a result of Brandi's illness, in 1998, the entire family -- Brandi's mother, her stepfather Roger Holas and her siblings Chad, then 3, and Kimberly, then 2, moved from Hudson to Buffalo so she could get medical attention from one of only five Fanconi specialists in the world.

The family expanded in 2004 with the arrival of Angelina Marie.

In New York, Brandi underwent two bone marrow transplants in 2002. The procedures took care of her blood cell problems but she remained at risk of developing other serious health problems, Jeannine Holas said.

Then, over the past three years, Brandi developed cataracts and became legally blind. Earlier this year, she underwent two operations to restore her vision.

''I see very good now,'' she said recently after her second eye surgery.

Brandi has lost her hair, has lost weight and has missed two years of school. But she has never lost her spirit, her mother said.

''Amazingly, she has been a real trooper through it all,'' Jeannine Holas said.

Brandi's treatment has cost about $5 million so far, Holas said, and keeping the family going while dealing with Brandi's medical issues has been very difficult.

''The financial difficulties have been tremendous. The stress affects our family relations and even our health,'' Holas said.

During the family's most difficult moments, the support of relatives, friends and the Donald Slayton Foundation has been crucial for them, Jeannine Holas said.

''It has been such an uphill struggle that, without their help, we would not have made it,'' she said. ``You just can't do this alone.''

That helping hand reached all the way to New York from Miami Shores in 2002 when friends and family who live in the village raised nearly $2,000. The Miami Shores Community Church helped Carol Gordon and Linda Adams, Brandi's aunts, whose son Matthew attended the church's school, organize a car wash to raise money for the family.

The Donald Slayton Foundation, which is dedicated to providing financial help to children with life-threatening illnesses and their families, has also been playing a big role assisting the Holases by organizing fundraisers for the past five years. This summer, the foundation donated a car to the family, said Phil Hartley, the foundation's president.

''Knowing Brandi has been one of the greatest experiences of my life. She is something special, she is a fighter,'' Hartley said.

Joe loves to take showers. He is like you that way.

Whenever Mom or I are taking a shower he wants in. And at night when it is time to get clean he heads straight for our shower. He'll stand there all night if we didn't get him out of there.



Joe loves to try and fake me out. He'll turn off the water and wait for me to grab a towel to dry him off. When I make a move toward the shower he'll turn the water back on full and start to laugh.

I fall for it every time.

Today was the first day of school. It was raining very hard. Joe started at JPDS and his buddy Sammy is in his class. He seems happy. I am happy that I only have to make one drop off in the morning. Our Gan days are truly over.

Before the baseball game, Mom and Jack and Joe and I went to the zoo to see the new tiger cubs. This is the first weekend that you can see them. They were born a few months ago.

This morning there was terrible news on the television. Steve Irwin, the Crocodile Hunter, died. I told Jack just straight out. He cried when he read the story I showed him on the computer. You and Jack used to watch Steve Irwin all the time. Remember we got the DVD of his movie with The Wiggles. We thought that would be a perfect thing for you and Jack to watch with Joe, who loved The Wiggles.

I guess that video made an impact on Joe. When he was little, he asked to go to the zoo every day. He hasn't mentioned it in a long, long time. Now everything is baseball. He loves baseball cards the way you loved Pokemon cards.

Well it was great fun watching the three cubs jump all over their mom. It made me think of wrestling with you, Jack and Joe. The mom took it all very well.



I wish we had Mom's camera. This isn't such a good picture. Sorry.

It is Labor Day today, which I guess means that summer is over.

Joe and I went to the National's game with Uncle Bill and James. James is pretty grown up now. He's a good kid.



The game was a lot of fun and very exciting. The National's pitcher, Ramon Ortiz, almost pitched a no-hitter. He came so close. Everyone cheered loudly for him.



They had these huge "presidents" race around the field during a break. It was funny. Teddy Roosevelt won. He isn't in this picture of them walking into the stands.

Jack knows everything to know about the presidents. He has flashcards about the presidents that we bought at the National Archives, I think. He reads back through them a lot.



Albert Pujols is one of the guys' favorite players. He hit a homerun in the ninth inning. He is a big and incredibly strong guy.

We went to Jake's 11th birthday party. It was a baseball birthday. Perfect.





I cannot think of a happier kid to be at this party than Joe. He got to be with a bunch of big boys and play baseball. He has a nice "stroke" and had some good hits. Everyone was impressed. I know for a fact that your brother loves to show off.



One of the coaches from Homerun Baseball, RJ, helped out at the party. He is going to teach Joe and some of his friends this fall. Mom is making arrangements for them to do it at Stoddert or Guy Mason. When he isn't playing baseball, RJ teaches school at Beauvoir.



It is good/hard to watch Jake and Ari and Simon grow up. I like to think what you'd be like at 11. Jake is really smart and funny. He is a good rapper too.



We are about to start the hard part of the year. I think it begins with your birthday next month then your death day and my birthday. Mom said something to me about us working together to get through it.

Joe was flipping through this costume catalog last night and when he got to this page he said,

"Hey, there's Henry."

Hey, this kid doesn't live too far from us. We definitely know the journey he has ahead. You weighed 33 pounds when you were 7-years-old. I will see what I can do to help with the Cal stuff.





Wednesday August 30, 2006

'Best buddy' must travel a long way to find the path to health
by BOB MAGINNIS

Though he weighs only 32 pounds and looks more like a 5-year-old than the 8-year-old he really is, Devin Fales is one firecracker of a kid.

It wears me out just to watch him scamper happily around the Red Byrd Restaurant in Keedysville as I talk to his parents.

But his father, Curtis Fales, says that every night at bedtime Devin asks him, "What's going to happen to me?"

The short answer: In the next few months, a lot, and none of it pleasant.

Devin has a rare condition called Fanconi anemia (FA). According to Web site of the University of Minnesota Medical School, it is a rare, inherited disease that causes bone marrow failure.

Devin's mother, Crystal Fales, knows all too well what the disease can do. Her sister died at age 10 of complications from the treatment for the disease, she said.

Because both parents must carry the gene, the Fales were unaware before Devin was born that he had it. But when they saw the underdeveloped thumb that is a marker, they had him tested.

Then the family began hunting for a doctor who was an FA expert. That wasn't easy, Curtis Fales said, because there are only 800 documented cases in the U.S.

They found Dr. John Wagner at the University of Minnesota Children's Hospital. Sometime next month, the medical staff there will perform a bone marrow transplant.

It's not an in-and-out procedure, according to a statement sent to me by Janet Ziegler, a clinical social worker at the hospital.

First, the family will travel to Minnesota while Devin undergoes a one- to two-week evaluation. Then will come a week of chemotherapy and radiation, after which the donated bone marrow cells will be transplanted.

Devin will be in the hospital for four to six weeks, but even after his discharge, he will have to remain within 30 minutes of the hospital for three or four months, during which time he may have to be re-admitted, based on how well he heals, Ziegler wrote.

Hospital rules also state that a caregiver must remain with him throughout the treatment process.

Fortunately, Curtis Fales' insurance as a technician with the National Institute of Standards and Technology in Gaithersburg, Md., is expected to cover the transplant's $1.5 million cost.

But the family will have to rent a place in Minnesota while Devin is there and deal with the cost of going back and forth to deal with the sale of their home.

Curtis Fales said they must sell because after his wife was forced to quit her job with the Board of Education to care for Devin, they couldn't pay their home equity. They've had $10,000 in medical bills in the last 12 months, he said.

Curtis Fales he said he hoped the bills would total no more than $50,000, but said there were no guarantees.

Even if money weren't an issue, they'd have to sell, he said, because Devin will have to live in a hypoallergenic house, because he will be susceptible to fungus, mold and other tiny critters for a long time.

The Fales each handle the stress in different ways. Devin's mother is quiet, while his father alternates between quick, nervous bursts of speech and rapt attention when Devin rushes up to the table to ask for a quarter or to report that another friend has shown up.

As Devin sprints off, his father said, "It's killing me. He is my best buddy in the whole world."

His anguish is made worse, he said, because even if Devin does well, FA patients are susceptible to other medical problems for the rest of their lives. Devin is close by when he says this, but the boy shows no signs that its impact registers with him.

He is, from all outward signs, a happy-go-lucky child. That fact was attested to by his friend, Don Shumaker, president of First Hose Company of Boonsboro, where Curtis Fales has been a long-time volunteer firefighter.

The fire company has tried to help, Shumaker said, proudly pointing to his latest project.

The company has purchased a New York City firefighters' helmet emblazoned with No. 8 and Cal Ripken Jr.'s name. Shumaker said the fire company is making arrangements to have Ripken sign it, after which it will be offered on the eBay Internet auction site.

With Ripken certain to be on the Baseball Hall of Fame ballot in 2007, it could be quite a collectible.

If you have healthy children and don't have to spend this winter watching them suffer in a place where the outside temperature can reach 30 below zero, consider helping the Fales family get through the next year.

To do that, you may go to any branch of Hagerstown Trust and contribute to the First Hose of Boonsboro/Devin Fales Benefit Account, No. 155007179.

Please help. Everyone needs a healthy best buddy.

Bob Maginnis is editorial page editor of The Herald-Mail newspapers.