Bloomington family channels activism after rare diagnosis

BLOOMINGTON, Ill. (AP) - The animals at J.R. Equestrian in LeRoy know that Axel Riordan is different.

They knew his mother first because she works at the facility, but they have come to know her 3-year-old son, too.

The horses, the dogs, the kittens, the chickens - they all know the little boy in the wheelchair is gentle, needs them to be gentle, and will love on them when, and if, he can.

Lexi Worth knew Axel was different when he was about 2 years old. But she couldn't prove it to doctors, who told her there was nothing unusual going on with her son.

'œAround his second birthday, he started becoming weak while walking and was regressing instead of progressing like normal toddlers would,'ť she told The Pantagraph in an interview. 'œA lot of the doctors we saw turned us away. They said his muscles weren't developed yet and this was all normal stuff.'ť

It would take an emergency room visit months later, and a two-week hospital stay, for the right tests to be run on Axel.

In late 2020, he was diagnosed with a rare genetic disorder called metachromatic leukodystrophy. According to the Mayo Clinic, the disease affects the body's nerve cells, causing symptoms that can include muscle rigidity, seizures and loss of vision. It is progressive and there is no cure.

Estimates project the disease affects anywhere from 1 in every 40,000 to 1 in every 100,000 births in the U.S. Worth only knows of one other family in Illinois whose child has received the diagnosis, and they live hundreds of miles away.

MLD, as the disease is called in short, can be diagnosed via a full panel of genetic testing and magnetic resonance imaging.

Gene test results can take months to get back, but Axel's came back in a matter of days, Worth said, since he was hospitalized. Still, the information came too late for the family to do much of anything preventative.

'œIt was Aug. 30, 2020, that we got the answers we were looking for,'ť Worth said. 'œHis doctors printed off some papers ... and read a little bit to us: '~This is everything he is going to lose, there's no cure, there's nothing you can do to stop it, you just have to accept it.'~'ť

Though Axel's disease is rare, MLD Foundation President Dean Surh said his mother's story is not.

'œMy favorite quote is '~Mom knows,''ť he said. 'œAnd then the doctor or the pediatrician very commonly will say, '~Oh, that's a little unusual, let's just keep an eye on that over the next three months.''ť

The problem, Surh said, is that three months can make the difference between whether or not preventative treatment can be administered.

In Axel's case, his diagnosis came too late for him to be eligible for any clinical tries or gene therapies.

'œOnce those symptoms have shown up, they're generally not eligible for therapy, because we don't have a way of fixing the nerves,'ť said Suhr, who had two daughters diagnosed with MLD decades ago. 'œWe have a way of stopping more damage, but with fixing the nerves, it takes a while. Once you have one of these therapies... it takes six months or so before your your blood enzyme levels get up to where they need to be to actually stop the disease, or to slow the disease.'ť

As Worth put it: 'œIf we would have done this testing maybe a week sooner, maybe he could have gotten (treatment), and that's something we will never know.'ť

Axel sees specialists to treat his nerve pain and other issues. But there is nothing they can do to stop the disease itself, Worth said, so the family has adapted as best they can: They bought a larger vehicle so his wheelchair would fit, they budget extra time to go places and do things, and when they spend time outdoors, they figure out how to bring him along.

'œEveryone is just like, '~How do you do it?' and I'm like, 'Well, you'll do anything for your kids,'ť Worth said.

Worth has reached out to various MLD organizations for support and activism, which includes advocating for full-panel genetic testing of newborns.

'œI'm just out there trying to make sure everyone has heard of MLD and get more people on our side and trying to get newborn screening,'ť Worth said. 'œKnowledge is power and so I'm like, '~Everyone just needs to learn.''ť

Unfortunately, Suhr said full-panel genetic testing is likely a long ways off in Illinois. While every state does screen newborns, the tests required by each state differ.

'œIt's state health departments - the federal government doesn't say you must do this or you must do that in terms of what screens you do,'ť he said. 'œFrom an advocacy perspective ... we want families to come forward and just talk about the overall benefit of newborn screening; that really helps with getting these new these new screenings launched state by the state.'ť