A Bloomington Mom Fights To Raise Awareness For Rare Disease
But Lexi was worried. As much as she wanted to believe that nothing was wrong with her happy little boy, she couldn’t shake the feeling, deep down, that something wasn’t right.
So she took Axel to another doctor, then another, only to be told that nothing seemed to be wrong. That set the Riordans on a months-long medical odyssey that would eventually end in a diagnosis of Metachromatic Leukodystrophy Disorder (MLD). MLD is a rare genetic disorder that affects the brain and nervous system. Children diagnosed with the late infantile form of the disease, as Axel was, often do not survive childhood.
It’s been one year since his diagnosis, and in that time, Axel has lost the ability to walk, sit unassisted, or roll over. He has to be feed through a tube because he’s no longer able to swallow.
“He is completely dependent on us,” Riordan said.
There is no cure for MLD. The best hope for patients is enrolling in clinical trials have the potential to improve prognoses. Early in his diagnosis, Axel came very close to qualifying for a clinical trial. But his symptoms had progressed to a point that rendered him ineligible. Riordan blames the medical profession — the string of doctors she says dismissed her concerns — for Axel missing out on his best hope for treatment. If the doctors had only listened to her, Riordan believes the family would’ve known Axel had MLD months earlier.
Caring for a sick child is difficult enough, Riordan said. Parents shouldn’t have to battle their kids’ doctors in order to be heard.
“You’re fighting every day to keep going for your child, and now you’re going to have to fight with medical professionals? That’s just ridiculous to me.”
It doesn’t stop with doctors. Riordan said she routinely has to fight her insurer to cover the costs of Axel’s care.
“Dealing with Illinois Medicaid, everything is a battle,” she said. From the medication Axel needs to alleviate his constant pain, to the out-of-state doctors he has to see, nothing is covered without a fight, Riordan said.
Part of the problem is a lack of awareness around MLD. The Riordans have to travel out of state for Axel’s care because, Lexi said, there aren’t any doctors in Illinois who have the necessary expertise. And because MLD such a rare disease, the doctors Axel saw at the onset of his symptoms didn’t know to test for it.
Riordan hopes that raising awareness about MLD will help ensure that other families don’t have to travel the difficult road she has in getting a diagnosis. She also wants parents to feel justified in advocating for their children’s care – even if a medical professional disagrees. Parents are often the first to notice when something is wrong with a child because parents know their children best. Riordan said doctors should be more attentive when parents are worried.
“They really need to take more time to listen to these parents who have concerns, and not just have a 5-minute appointment and try to push you out the door so (they) can get to their next patient,” she said.