A grandmother is determined to do everything she can to help her 9-year-old grandson who has an extraordinarily rare genetic disease. The only known cure, so far, is a bone marrow transplant, which can cost upwards of $800,000.
Shortly before Alex Sims was diagnosed with an immune disorder called immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX for short), Sherry Sims, his grandmother, moved to Florida. Sherry, 68, said she felt helpless when she learned about her grandson’s diagnosis because she was so far away from the metro-east.
“I thought, ‘What can I do? There’s nothing I can do,’” Sherry said. Then, she decided to reach out to anyone and everyone who could help.
“I probably called around 200 American Legion posts and organizations around the country and got help from almost all of them,” Sherry said.
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Locally, a meat shoot for Alex, who is a Collinsville native, will be from noon to 6 p.m. Sunday, Oct. 29 at the American Legion in Belleville.
Despite his diagnosis last year, Brandon Sims, Alex’s father and Sherry’s son, said, “For the most part, Alex is a typical 9-year-old. He actually likes school because it makes him feel normal and he’s around other kids. So much of his life is doctors and tests and being sick. School makes him feel like a kid.”
Alex attends fourth grade at Parker Road Elementary in Florissant, Missouri.
Alex’s family lived in Collinsville until they relocated to St. Louis to be nearer to the hospital for Alex’s reoccurring health problems.
According to Megan Cooper, rheumatologist and director of clinical immunology at St. Louis Children’s Hospital and Washington University, IPEX is so rare, experts can’t even accurately estimate its occurrence. She said it could be, “anywhere from 1 in a million to 1 in 5 million.”
IPEX syndrome is an autoimmune disease caused by a genetic mutation and is passed only from mother to son.
Cooper said, “We have a lot of different parts of our immune system. When we have a cold, it gets activated and should fight off that infection. But, it needs to be regulated. If it’s too active, it starts to destroy our own tissue.”
Sherry said, “In simplistic terms, Alex has a broken immune system. When it starts fighting, it doesn’t stop. It goes on fighting and starts attacking his organs.”
When his classmates at Parker Road Elementary found out Alex was sick and needed help, two 6-year-old boys, whose parents teach at his school, held a lemonade stand in June. They raised $608 for Alex.
Sherry said, “Alex’s third-grade class — he’s in fourth grade now — decided they were going to have a sock hop to raise money for Alex. The school teacher sent home a note saying: Everybody bring $2. There’ll be snacks, music and games. We’re going to donate to Alex’s fund.”
“You have to understand, some of these kids don’t have lunch money. The other third grade teacher said, ‘I had a boy come in with $5. Instead of taking the change, he said he’d pay for someone else to attend the sock hop.’ And 15 kids paid it forward.”
Sherry was overcome with emotion recalling, “The teacher said, I didn’t hear the kids talking about, ‘Oh, we get to get out of class.’ I heard kids saying, ‘We’re going to save Alex’s life.” With their sock hop event, the children of Parker Road Elementary raised $1,980 for Alex.
To help off-set the costs of the transplant, medication, hospital stay and living expenses, Alex’s family has partnered with the Children’s Organ Transplant Association (COTA) to create the “COTA for Team Alex.” It can be viewed online at www.cotaforteamalexs.com.
COTA helps transplant families fundraise for the procedure itself and other transplant or medically-related expenses. The tax deductible donations are put into a fund for Alex’s lifetime use.
If the child dies, the funds go to other families with sick children in the COTA program.
“Bone marrow transplants cost around $800,000,” Sherry said. “We’ve been told, after the transplant and the dust settles, the family will be over $1 million in debt.”
In the past six months, the COTA for Team Alex has raised around $50,000 for Alex’s COTA account through fundraisers and donations large and small from across the country.
Diagnosis of IPEX syndrome
Though it took years for Alex to be diagnosed, his family knew something was wrong since he was a baby.
Sherry said, “Alex was born in December 2007, the day after Christmas. In very early infancy, we noticed he didn’t do things that other children do.”
“He never wanted to pull himself up. If you put him on his tummy, he didn’t lift his head. He didn’t walk until he was close to 3-years-old. Several times he was hospitalized and diagnosed with ‘an unidentified virus.’ They’d give him antibiotics and send him home,” his grandmother said. “We started looking for answers.”
The muscle, joint, skin and digestive problems Alex suffered were, in hindsight, all symptoms of IPEX syndrome, Sherry said.
“Alex always had super dry skin. So much so, that doctors would comment on it. One time, he lost all his hair.”
“When Alex was 2 and a half, he got very sick and we took him to the emergency room on the 4th of July weekend. They diagnosed diabetes,” his grandmother said. It was caused by IPEX but they didn’t know it at the time.
Doctors at St. Louis Children’s Hospital ran multiple tests but the results were inconclusive. “One doctor finally said, ‘I don’t know what’s wrong with Alex,’” Sherry said.
Brandon said, “He had a series of medical problems that didn’t seem to fit together. I love doctors but they concentrate on their own specialty and didn’t find a connection until Alex’s neurologist did the DNA test.”
The results of the DNA test came back in late 2016. Brandon called his mother with the diagnosis. Alex had IPEX syndrome.
During the 2016 phone conversation, Sherry recalled her son saying, “Don’t Google it, Mom.”
“Of course, I googled it,” Sherry said. She read “grim stories” about children who didn’t survive the syndrome or research that didn’t say very much about the rare disease.
“I just sobbed.”
Brandon said, “When you Google it, you see the worst-case scenarios. IPEX syndrome is so rare that you get the worst. Yes, this is a terrible diagnosis but you want to have the information that will give you the hope to go on.”
“Alex has six specialists that he sees,” Brandon said. “We’re at the doctor’s office every three to four weeks. He receives monthly blood tests and weekly infusions to boost his immune system to make it work more efficiently. Alex needs insulin shots six to eight times a day. We try and keep life as normal as we can.”
Brandon, who is legally blind, gets help managing Alex’s medical needs from Alex’s mother, who also lives in St. Louis.
More ways to help Alex
Jeff Bednarski, hematologist and bone marrow transplant physician at St. Louis Children’s Hospital, said a stem cell transplant, also called a bone marrow transplant, can cure IPEX syndrome.
“The tissue injury Alex has already, won’t be reversed,” Bednarski said. “The diabetes, he’ll still have. The goal of the transplant is to prevent any new autoimmune diseases from developing.”
Unfortunately, Alex currently does not have a match in the national bone marrow registry.
Becoming a member of the national bone marrow registry is “remarkably simple to do,” Bednarski said.
If you are healthy and between the ages of 18 and 44, Bednarski said, “All you have to do is go to bethematch.org. You type in your name and address. They send you a little kit in the mail with a cheek swab. Swab your cheek, put it back in the mail and that’s it.”
If you aren’t a match for Alex, you could be the match for someone else in the country or even internationally.
Sherry has organized swab events in Florida where she has been certified by Be The Match.
“Last month, we did swab events at 2 of the hospitals. We’ve done car shows. We went to Midas Muffler and swabbed all 8 of their employees,” Sherry said. She encourages everyone to take a moment, join Bethematch.org and potentially save her grandson’s life.
According to Bednarski, the donation process itself is simple and virtually painless. “It’s just the name of it, ‘bone marrow transplant,’ that sounds scary,” he said. “What we’re doing is using the stem cells from the (donor’s) bone marrow to repopulate someone else’s bone marrow.”
“There are two ways we collect stem cells from people. The most common one, you go into a collection facility, they collect your blood, spin out stem cells and give your blood back,” Bednarski said.
The second way is a surgical procedure in which the donor is sedated while a needle “about the size of an IV” is used to collect cells from the hip bone.
Of this second procedure, Bednarski said, “People may have some discomfort for about 24 to 48 hours afterward, but they are back to their normal activities usually the next day.”
If you want more information about bone marrow donation, contact Sherry, who serves as the COTA for Team Alex campaign manager, by phone, 941-527-1403, or email, email@example.com.
Want to help?
- What: Meat shoot with proceeds going to the COTA for Team Alex
- When: Noon to 6 p.m. Sunday, Oct. 29
- Where: American Legion at 201 Eiler Road in Belleville
- Details: Volunteers to help with the event are needed. If his health permits, Alex plans to attend the event.
- More information: Contact Sherry Sims 941-527-1403 or firstname.lastname@example.org
What is IPEX syndrome?
IPEX syndrome was only recognized as a disease in 1982 because the types of problems it causes in infants could also be generally labeled as failure to thrive and the babies died too quickly for diagnosis. Many of the advances in the recognition and treatment of IPEX syndrome took place at St. Louis Children’s Hospital.
Brief history of IPEX syndrome:
- In 1982, the disease was first recognized by clinical symptoms from Seattle Children’s Hospital. The genetic cause was unknown.
- In 2000, Talal Chatila, a doctor in the division of immunology and rheumatology, department of pediatrics at St. Louis Children’s Hospital and the Washington University School of Medicine, discovered the genetic cause of IPEX syndrome. Once doctors knew the genetic cause, they began working on a treatment.
- In 2007, Shalini Shenoy, chief of pediatric hematology and oncology at St. Louis Children’s Hospital, reported the first successful transplantation strategy for IPEX syndrome. This was an important development because, in a review from 2002 of 56 patients with IPEX syndrome, only six patients were alive and no patients were cured with stem cell transplants using older methods. Shenoy developed the “gold standard regimen” for treatment of IPEX syndrome at St. Louis Children’s Hospital, said Megan Cooper, rheumatologist and director of clinical immunology at St. Louis Children’s Hospital and Washington University.
As for the future of IPEX syndrome, Cooper believes genetic testing is a key to diagnosing and treating the disease through methods including Shenoy’s stem cell transplantation strategy. Cooper said, “This is a path that could lead to a cure.”