The excitement of my son Ted’s birth in December of 1999 quickly turned to fear when he crashed within 24 minutes of life after having a perfectly normal 8/9 Apgar. So, a big surprise for everybody. We had no idea why it was so hard for him to breathe. As he stayed in the NICU¹, on a ventilator and things kept piling up on each other, nothing was making sense – zero – his failure to thrive—it was just like his body was very content to be on a respirator and not have to work so hard.
We finally brought him home and had to be on lockdown. He was home 38 hours and he had somehow contracted respiratory syncytial virus [a lung infection], which is still a mystery. We went back to the NICU and had another 10 days of intensive lifesaving measures. How did something get so catastrophically wrong so fast? This was just the cycle of life for four years – I would call it the ‘out of nowheres.’
We started going through all the motions – how do we get him to walk, how do we do this, how do we do that…speech therapy OT2², PT³, horseback riding, swimming therapy – you name it – we were trying to do everything we could. It took us until he was almost 3 to get him vertical and walking.
Finally, we got him up on his feet but he used a walker and he had AFOs⁴ up to his knees. At that time, things were going really well, and then one day the ‘out of nowheres’ came around and he caught a respiratory infection. He was hospitalized and he never got back to that baseline and that’s when our neurologist was like, ‘this is just not right.’
By then like a rare disease mom, I had a mass of doctors chiming in. They sent us first to the National Institutes of Health (NIH) for an immunology study. I did the research – found it online, brought it to our immunologist who agreed Ted qualified and he wrote a referral letter. Within days we went to NIH. They said, ‘we don’t know; we think it’s a mitochondrial disease,’ and of course I didn’t even know what that was. He was 4.
It took another year to get a referral for a genetic test to confirm the mitochondrial disease. And then the report came back that yes, he did have Complex III Dysfunction in his mitochondria, which is now considered a clinical diagnosis.
The doctors told us ‘we also don’t think there is anything we can do for your child and from what we’re seeing and historically for him, we expect he’ll live to be between the ages of 10 – 12. There’s nothing we can do.’ It was devastating to hear that and I thought at the time, we are putting people on the moon, what do you mean you can’t figure this out? I had no idea what ‘rare disease’ meant or what ‘genetics’ was.
I got on the Internet and started finding other parents – similar but not the same. That led me to a doctor in Boston who prescribed a medication cocktail. We saw improvements within 90 days, but they were slow and steady. We started playing whack-a-mole. Instead of trying to cure mitochondrial disease, we started treating the symptoms that were coming up.
About 2013, we were hitting the timeline where his life expectancy was and we noticed we were needing more interventions to keep him going and progressing than we had hoped for. You have in the back of your mind that you’re hitting the finish line and you don’t want to accept that.
I was in contact with the NIH and they had just started a study for kids with metabolic issues and disorders of metabolism and immunology and I was like, that might be something my kid needs…we were getting everything lined up and tragically my husband died suddenly from a massive heart attack.
The day we were supposed to be at the NIH ended up being a funeral. This kid just couldn’t catch a break… he lost his dad; his treatment was delayed. . . I was about to explode from absolute grief in every sense of the word. The NIH discovered so much more than we knew. They were able to genetically discover his disease, which is paramount to get into any clinical trial.
So, we just kept working on it. The one thing that stayed consistent in his care that we found, is giving Ted his therapies, and he has thrived. He’s gone above and beyond what anybody’s expectations were. And with this continued medication now at age 20, he’s driving a car, he’s able to have a part-time job, and he takes occasional vocational classes to learn things relevant to his interests. It’s the slowly-but-surely-pace with him.
Looking back, the physicians and I asked, ‘how did this happen?’ Other than the therapies, the thing we found most helpful, is that we allowed Ted’s body to run the show – to rest and come back to what it needed. This has been quite a journey over the past 21 years and much learned from this “Mito Mom.”
NICU¹: Neonatal Intensive Care Unit
OT2²: Occupational Therapy.
PT³: Physical Therapy
AFOs⁴: Ankle-Foot Orthosis