Are you newly diagnosed?

By Alexandra Worth

Axel Riordan was born October 15, 2017. He was a healthy growing boy, hitting all his milestones on time. Around 18 months old Axel started developing problems while walking; locking knees, stumbling, eventually falling a lot. It all progressed slowly at first so at his two-year checkup with his pediatrician I mentioned this and although the doctor was not concerned, he ordered a hip Xray to make sure everything was okay. The Xray came back normal so we were referred to a neurologist who ordered a basic genetics test, when that came back normal, he referred us to physical therapy. Although the therapy was good to keep him moving it was not fixing the cause of the problem. Axel got AFOs to help support him while he walked but a few months later nothing had seemed to improve. Our neurologist ordered an MRI of his head and spine but again, that came back normal. We were then referred to a geneticist who would do a more depth genetic test however that was scheduled MONTHS out. 

While everyone seemed to be stumped on what the problem was, I took it upon myself to try working with a chiropractor, who then referred us to Early Intervention. At this point Axel is not walking or standing on his own, he will crawl to get around but even then preferred to be carried, he struggled with balance while sitting, had a hard time controlling where he was putting his hands, etc. We were declining very rapidly now, and nobody was willing to help me in a timely fashion. 

Our physical therapist did one evaluation on him and said he was aspirating while eating and drinking and something is not right. We were told to go to the emergency room for an immediate swallow study.

We ended up being admitted into the hospital and stayed for about two weeks as they were trying to figure out what was going on. He failed his swallow study, got an NG tube placed and they set out a rush order on his genetics test. Within a few days we got our results back saying he has Late Infantile Metachromatic Leukodystrophy, a rare and progressive disease that has no cure. 

After being discharged the rush was on to find a specialist as no one in our area new anything about MLD. We were lucky enough to get in with Dr. Escolar at UPMC Children’s Hospital of Pittsburgh, who has more experience with rare disease than most any other doctors. The Pittsburgh team gives directions to our local hospital team (Peoria, IL) for when we need local treatment, otherwise we make the drive out to Pennsylvania. 

It took about a year to get him diagnosed because none of the doctors have ever heard of this disease. So much time was wasted by getting the runaround. If this was caught sooner Axel could have had more of a chance to fight this disgusting disease, but since the lack of knowledge on MLD he doesn’t get that chance. He was denied for any of the clinical trials that have a chance of helping kids with MLD because he was too far progressed. So, we are feeling a little stuck not knowing what to do. We are doing our best to make sure he is living the most comfortable and fun life he can, but it is not easy. It’s very hard on our hearts to have to go through this and I know any family dealing with a rare disease is feeling the same way. Our lives now revolve around doctor appointments, insurance calls, equipment fittings, tube feeding and medication adjustments. We try our best to enjoy the small things but this is not the life we imagined for our sweet boy.

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