Parents fight for daughter’s life
On Monday, January 28, a South Carolina couple traveled to Washington, D.C., to speak with their representatives in Congress and ask them not to cut funding to research programs that could save their daughter’s life.
Jeff and Katie Larimore’s seven-year-old daughter, Sarah, has a rare genetic metabolic disease called cystinosis. The Larimores joined three cystinosis support groups in Washington and met with legislative aids from the offices of Sen. Lindsey Graham, Sen. Tim Scott, Rep. Joe Wilson, and Ohio Sen. Sherrod Brown. They had three requests: continue to allow incentives afforded by the Orphan Drug Act; continue funding the National Institute of Health (NIH); and continue the Medicaid program, TEFRA, that extends services to children with catastrophic diseases and disabilities.
The Orphan Drug Act allows pharmaceutical companies to invest in researching medications for rare diseases without losing money through tax breaks and financial assistance.
Cystinosis is an autosomal recessive disease, which means that both parents must be carriers for it, and there is only a 25 percent chance of producing a child with the disease at that point. There is currently treatment, but no cure for the disease, and only four children in South Carolina, 500 children in the United States, and 2,000 children in the world have cystinosis.
TEFRA, or the Tax Equity and Fiscal Responsibility Act, was established in 1982 and allows children with disabilities and serious illnesses, who would not be eligible due to their parents’ income, to receive Medicaid benefits. This program is used in 26 states, including South Carolina and only covers the affected child. The Larimores said they could not afford to pay for Sarah’s medication otherwise, which costs around $5,000 a month.
“It has been a roller coaster,” Katie Larimore said. “We have three children who came before Sarah, and they are all perfectly healthy, and I thought that was a roller coaster. They were a walk in the park compared to this medical issue. Jeff and I didn’t know we had it in us to handle a major medical issue like this, and I think parents shortchange themselves a lot. They need to give themselves more credit. You do what it takes to keep your kids alive.”
Sarah Larimore’s daily regimen includes 33 pills, one injection, a feeding tube, and eye drops 14 times a day just to stay alive.
There are three forms of cystinosis: infantile nephropathic cystinosis, intermediate or juvenile cystinosis, and benign or adult cystinosis.
Sarah Larimore has infantile nephropathic cystinosis, the most severe form, and was diagnosed at 15 months. Common symptoms include kidney failure, mineral depletions, small stature, rickets, malnurishment, frequent urination, muscle wasting, and cysteine crystals in the corneas. Cystinosis also causes Fanconi syndrome, which is when the kidneys deplete the body of all nutrients.
The current medication, developed 20 years ago, causes stomach pains, headaches, and vomiting. It also seeps through the pores and smells terrible, according to the Larimores. Eventually, every cell of the body is affected and many do not live into old age.
“Her prognosis is unknown,” Katie Larimore said. “Technically, cystinosis is considered terminal because there is no cure. Jeff and I don’t like to think that way. So, we just go with the idea that there’s no expiration date stamped on her anywhere.”
Aside from her condition, Sarah is a typical first-grader who loves to play with her friends, paint, and go to school. Unfortunately, her condition makes her miss a lot of school, and the Larimores said she rarely makes it a whole week.
But, thanks to great teachers and tutors, she is still learning at the same rate as other children her age. Sarah’s homebound program allows her to make up any missed days of school at a later time, and the teachers at Lake Carolina Elementary use time during school to catch her up.
Because Sarah is unable to sweat, she has to stay inside during recess on hot days. The teachers use this time to work with her on areas she is having trouble with.
This year, Sarah’s teacher suggested that Katie come in to explain her daughter’s condition to the rest of the children and answer questions. Katie answered questions about Sarah’s medicine, the feeding tube, and why she gets to do things the other kids are not allowed to do.
“They thought Sarah was a hero to be able to swallow 33 pills a day,” Katie Larimore said. “And now, they look out for her, they baby her, and they have embraced her because of the difference. It was an excellent call from an excellent teacher.”
While Katie is busy caring for their daughter, Jeff works for the Arnold Companies as the chief financial officer. Jeff is also the president of Cystinosis Research Network (CRN), a nonprofit organization founded in 1996 dedicated to raising money for cystinosis research and providing support to families dealing with the disease.
Two years ago, Katie nominated Jeff for treasurer of CRN due to his accounting background. He was approved for the position, and last August, he was nominated and approved as president.
CRN has participated in clinical trials with Sigma-Tau Pharmaceuticals, a company that recently received FDA approval for Cystaran, which is used to treat cysteine. CRN has also worked with the NIH to create the first handbook for doctors and parents of cystinosis patients.
The Larimores said their trip to Washington went well, and all four offices were receptive to their message. The legislative aids listened, asked questions, and were engaged in the conversation. Although they could not make any guarantees, they agreed these were not viable cuts to make, according to the Larimores.
Jeff Larimore said a new drug that is close to FDA approval could change Sarah’s life. Because the drug can be taken every 12 hours instead of six, simple things like sleep would be easier for everyone. The new drug promises fewer side effects as well, and there are ongoing studies that may lead to a cure.
“I think that’s probably long-term down the road,” Katie said about a possible cure, “but we will keep funding, we will keep supporting our organizations, and we will keep fighting for our kids until we find a cure. God willing, there will be one in her lifetime.”