UPDATE: FoxNews.com first covered Carter Brischler's medical battle in 2016, eight months after he was diagnosed with adrenoleukodystrophy (ALD). His family shared the tragic news of his Feb. 6, 2017 death with supporters on their GoFundMe page.
"2/6/17 @ 5:45pm...when time really stood still...," the post read. "Carter's fight with ALD ended with friends and family surrounding him. 1/2 of my world is now in heaven watching down on all of us. Forever, for always... my baby he'll be."
Original article appears below:
Last summer, Carter Brischler was doing flips off his grandfather’s boat and looking forward to starting school in the fall. But just eight months later, the 5-year-old daredevil spends his days in and out of the hospital, unable to see, hear, eat, speak or even move on his own— his little body ravaged by a rare disease that is rapidly attacking his brain.
His family has been on a mission to give him as many memorable experiences as they can before he loses more.
“It's not like he's living, you know? He's here, and we love him, and we're doing everything we can. But, you know, this isn't life,” his mother, Stacie, told FoxNews.com.
Carter is one of an estimated 13,600 people in United States believed to be suffering from adrenoleukodystrophy, or ALD, a rare genetic disorder that prevents the body from breaking down very long-chain fatty acids (VLCFA) in the brain. The accumulation of these VLCFAs causes the myelin sheath— the insulating membrane that surrounds nerve cells in the brain— to deteriorate. Without that sheath, messages from the brain to the rest of the body, and vice-versa, can’t be delivered.
“Everything's been taken away from him that he can use to enjoy life,” added Carter’s father, George. “He can't move around or go where he wants to go, or play with what he wants to play with. He can't see; he doesn't know if it's day or night. It's an awful thing to have to watch him go through.”
ALD is an X-linked metabolic disorder, making the most devastating form of the disease more prevalent in males. Symptoms of the disease usually appear between the ages of 3 and 8, and leads to either death or permanent disability within two to five years after diagnosis, according to StopALD.org.
“It can be a picture of [attention deficit hyperactivity disorder] ADHD in a child or difficulty walking, difficulty with vision, difficulty with hearing,” Carter’s physician Dr. David Kronn, director of medical genetics at Boston Children’s Health Physicians New York Campus, in Valhalla, New York, told FoxNews.com. “Sometimes they have the adrenal manifestations of the disease, in which they may have skin color changes, and they may have difficulty fighting infections [or] they may come in with a sepsis at some point.”
For Carter, it all started in October 2015 with what his parents thought was a lazy left eye.
“[The eye] was just venturing out to the outside and then coming quickly back, and I'm like, ‘What is that?’” Stacie said. “But he never complained. He never said he couldn't see or he was seeing blurry.”
Stacie took Carter to the eye doctor where they fitted him for glasses and said that the prescription should help correct his eye. But the glasses only seemed to make the problem worse, and when he started becoming disoriented around Halloween, his parents knew something was wrong.
“He would be running and then stop,” Stacie said. “We'd be like, ‘Buddy, go get your brother,’ and he'd be like ‘Where?’ And we're like, ‘Right there,’ and he'd go, ‘Oh’ and then just run anyway.”
“It was taking him longer to realize what was going on, where things were, where he was,” George said.
After several doctor appointments failed to yield any clues, Stacie took Carter to a local hospital near their home in Port Jervis, New York.
“I finally got tired of talking to different doctors and getting the same results, so I took him to Bon Secours [Charity Health System] and I was like, ‘You need to scan his head, something's wrong,’” Stacie said. “So they finally did it, and then that same doctor at 1 o’clock in the morning had to come to me and say, ‘There's an abnormality in your son's brain.’”
Carter was transferred to Westchester Medical Center, where he stayed for a week and underwent testing. But the Brischlers said while doctors suspected Carter was suffering the effects of ALD, the lab tested for long-chain fatty acids instead of the standard testing method, which looks at very long chain fatty acids. So Carter did not receive a firm diagnosis of ALD until he went to see Dr. Kronn in January.
Doctors use what's called a Loes score to assess the progression of white matter changes on an MRI in a child with X-linked ALD (X-ALD). Generally, if the Loes score is above 8, the disease has progressed too far to be treated successfully, Kronn said.
Carter’s was a 13.
“Over the years, we’ve become aware that a bone marrow transplant early in the disease can be life-saving for these patients, but we now know that it's only effective in the early stages of the disease,” Kronn told FoxNews.com. “When patients are symptomatic, it's generally a little bit too late to do anything which is really effective.”
An impossible decision
Kronn explained treatment options to the Brischlers, but because of the advanced stage of his disease, the outlook was not promising.
“He says, ‘It's risky, there'd be a 50 percent chance that he would even survive the surgery, let alone the whole process, that it requires chemotherapy and long stays in the hospital, isolated,” Stacie recalled.
“Even after the transplant, your body still needs a few months to use the new bone marrow to fix the problem, and all throughout that time of prepping for the transplant, going through it, and your body acclimating to it, the degradation would still be going on,” George added. “And there's no way to stop that or slow that down or know how much would have been taken away by the time the bone marrow would be successful— if it was successful.”
The Brischlers knew they had an impossible decision to make. They ultimately decided to forgo the transplant to try to make as many memories as they possibly could with Carter and his brother Peyton, 8, as a family of four.
“Of course the day after, we're like, ‘Did we make the right decision?’” Stacie said. “Fast-forward four months, we absolutely did because he lost his vision since then, and his hearing and his ability to speak— all of those would have been lost in a hospital.”
The Brischlers rushed to try to give Carter as many memorable experiences as they could before he completely lost his eyesight. In February, Carter was granted a Disney Cruise trip through the Make-A-Wish Foundation. And although he had lost his eyesight a few weeks prior, the magic of the moment was not lost on Carter.
“He swam all day, he ate all day, he really— it was magical,” Stacie said. “He smiled the whole time, ear to ear.”
While Carter was not a good candidate for a bone marrow transplant because of the advanced stage of his disease, the procedure has shown promising results in other patients, Kronn said.
But catching the disease early remains a challenge.
In 2013, New York became the first state to add ALD to newborn screening after Elisa Seeger, a mother from Brooklyn who lost her son Aidan to the disease, lobbied for Gov. Andrew Cuomo to sign NY State Senate Bill S2386 into law.
Newborn screening varies by state, and test for diseases like sickle cell anemia, genetic conditions like cystic fibrosis, infectious diseases and potentially deadly metabolism disorders.
“Aidan’s Law,” as it’s called, has already helped doctors identify more than 40 cases of ALD, not only in boys who may become affected but also females who, like Stacie, could pass it on to their child.
“How is there something inside you, and you're unaware that you could have it, and it could be passed down to boys who could have symptoms from it or [to] girls who could give it to their child?” Stacie said. “How do you not know that's there? That's pretty important. It affects your life.”
On Feb. 16, 2016, ALD was added to the Recommended Universal Screening Panel (RUSP)— a list of conditions the federal government recommends every baby be screened for. From there, it is up to the states to decide and implement their newborn screening programs.
For now, the Brischlers are focused on making as many good memories as they can cram in between doctor’s appointments and hospital stays— a mission they said has only been possible with the support of family, friends and their community.
“You know, you hear about people rallying around things and supporting people, but you don't realize that it's an ongoing thing,” George said. “To realize that people do things ongoing day in and day out for you, and they're always there for you— it's, it's amazing and it's needed.”
Cards and donations can also be sent to:
c/o Stacie & George Brischler
PO Box 754
Sparrowbush, NY 12780