“It was just beautiful,” she said. “Waverly was our little sunshine. She was very talkative. She loved singing and books. Even after she lost the ability to use expressive language, she memorized many books and songs. , so I used that as a language of communication.”
Waverly’s parents learned the reason for her motor delay when she was three years old. Ms. McNeil said her daughter failed her hearing test and after further testing, her doctor diagnosed her daughter with the condition. Oliver, who was already born at the time, later received the same diagnosis.
“He was much more active and fit than Waverly in that he could run, ride his scooter and ride his bike,” Ms McNeil said. “But he didn’t say much. He was our gentle giant. Once he opened up to you, he would be your buddy for life.”
There are many ways to describe Sanfilippo syndrome. There is a medical way. It is a genetic disease in which the body is unable to break down chains of sugar molecules, causing a buildup that damages organs, including the brain. And there is a practical way. It’s a cruel situation that deprives children of more and more as they grow up, leading to early death. There is no cure and many children do not survive past their teenage years. It affects 1 in 70,000 births.
Children with Sanfilippo syndrome are on a shaky clock, and that clock is why families across the country are now begging the U.S. Food and Drug Administration for early approval of a treatment. Families and biotech leaders say there is no cure, but some treatments have shown promise, giving children with the disease a chance to live longer and better lives. We need access to those treatments now.
Hoping to find a way to help her son and other children with the disease, a mother who started a nonprofit and then a biotech company said that if the FDA doesn’t grant early approval for a treatment, research He said there would be no funding and no progress. will be lost.
Her son is already older than other children who died from the disease.
“I’m at a huge crossroads,” Jill Wood told me. “My son is 15 years old. This is the period when children begin to severely regress and lose all abilities. Do we continue this for the next generation or do we go home now? Will I spend time with my son? …I just want to know if I can do this. If not, I need to be with him. Family has to come first. As we get older The guilt gets worse and worse.”
Ms Wood explained how the disease is affecting her son Jonah. He can speak, but he cannot speak complete sentences. He likes to be with people, but he does not know that he should not run out into the street. He loves television, but his family no longer has one in the house because he became aggressive every time someone turned it off. At one point, Wood shaved her head because of her hair pulling.
Her son doesn’t do that anymore, but she said she’s now waiting to see what abilities he loses. Many children with this condition are unable to speak, eat, or even sleep at night.
Jonah was diagnosed with the disease before he was two years old. Shortly thereafter, in 2010, Ms. Wood and her husband, Jeremy, and Ms. Weishal founded the non-profit organization “Jonah’s Just Vegan.” In 2012, they, parents of children with Sanfilippo syndrome, and researchers founded the biotechnology company Phoenix Nest. The company has received a grant from the National Institutes of Health and is working on treatments for two of the rarer subtypes of the disease.
Wood said he has spoken directly with FDA officials about the need to focus treatments through accelerated approval programs, joining other families and companies in doing so. But so far, she said, the FDA has not taken any such action.
“So we were stuck,” she said. “We are so stuck that we are in tears.”
I began writing about children with rare diseases after meeting a young woman with two “ultra-rare” diseases at the Children’s Inn at the NIH. I talked about her in her previous column. She also spoke about a girl named Autumn who suffered from a facial tumor due to a rare disease, and her family of three children whose lives were threatened by a rare disease. Because the populations that make up the communities surrounding these unusual situations are inherently small, they are often ignored. We would like to share with you what people from the community of Sanfilippo have said. Because if their voices are too quiet, the risks are too high.
F.D.A. I will explain Its accelerated approval program is being introduced as a way to “enable early approval of medicines that treat serious conditions and meet unmet medical needs based on surrogate endpoints.” Surrogate endpoints are markers, such as laboratory values, radiological images, physical signs, or other measures, that are thought to predict clinical benefit but are not themselves measures of clinical benefit. Using surrogate endpoints can significantly reduce the time required to obtain FDA approval. ”
Since the creation of that approval pathway in 1992, the FDA states on its website that “many drugs that treat life-threatening diseases have been brought to market in this manner and have had a significant impact on the course of the disease.” It has said. It refers to HIV/AIDS and cancer treatment.
Emil Kakkis, founder of Ultragenics Pharmaceuticals, which develops treatments for rare diseases, said: I wrote an article Kudos to the FDA for granting early approval of Alzheimer’s disease treatment. In the article, he said that, like Alzheimer’s disease, rare diseases such as Sanfilippo syndrome “make it particularly difficult to apply the normal rules of drug development.”
When I spoke to Kakkis, he said the time it takes for children with this disease to be diagnosed and begin treatment is short. He also said that developing such treatments is expensive and that he has heard from two companies he has commissioned to undertake treatment projects that they are unable to continue funding them.
“If the FDA doesn’t change what it’s doing, all of these treatments will be phased out and there won’t be a single treatment approved for Sanfilippo syndrome,” he said. “For me, it’s an incredible tragedy to see these treatments disappear for so-called red tape regulatory reasons.”
Now a pediatric social worker and grief therapist, McNeil knows what it feels like to have no way to slow the progression of symptoms. It’s too late for her children to benefit from whatever treatments are developed, but she joins the call for early approval in hopes that other children will have that chance. I participated.
“Our ultimate goal is not naive in that we believe we will have a comprehensive treatment,” she says. Although these treatments can come with risks, they can help children be mobile for longer, avoid swallowing problems for longer, and possibly live longer. That’s the chance she wanted to give her own children, she said. “When you are left with a future of great despair and ultimate death, you are willing to roll the dice.”
