I have a stats section on wordpress that tells me in addition to how you landed on Marrs, what you were reading.
Someone popped in on this post last night that was published in the Fall of 2011.
A bunch of you weren’t a part of our lives then, and if you haven’t heard the story yet….you should read.
Not much has changed with d medically. Eight years later we still have not identified the primary cause of Danny’s mitochondrial dysfunction. But even not knowing the why it is happening, treating it anyway is totally helping.
The first time I heard the words Mitochondrial Disease.
Danny had these funny regressions.
Regression is thrown around a lot in the autism world, to get more therapy, you have to show a skill loss. That’s not what I am talking about here. Danny would literally be able to do a skill one day and then the next have it be gone. It looked like non compliance to us in the beginning, but after a while we would realize that the skill was just gone.
Ok, so how do you prove it to the outside world? In the land of “mom reports”, not much I say is taken seriously. I think it was 2003 and we were enrolled in a study for PROMPT (if have no idea what the acronym means, but it was studying the effectiveness of a speech therapy intervention). Once a week, for forty-five minutes for twelve weeks, the kids and I would pack up and drive downtown to be videotaped during therapy. Not only did Danny not make progress, he we had evidence of regression on twelve weeks of video tape overseen by someone with a PhD who wasn’t employed by our family. We had golden documentation. It also helped that the ladies in my house at the time, were also research assistants to this particular study and could verify that Danny was still getting 30+ hours a week of quality intervention.
We had an amazing team of docs in town, but they hadn’t come across this before. Even the metabolic docs at Children’s Hospital were stumped.
So, out we went to California to UC Irvine. There was a group of folks studying a link between metabolic disorders and autism. We went there a few times. We ran a bunch of tests (blood, urine, and multiple eegs looking for seizures that could explain what was happening) and while they thought there was something going on medically, because clearly he had things going on, all the tests were inconclusive.
Danny kept having regressions.
Ok, so we are back from California with no answers. Docs here are stumped.
Fast forward a year.
Danny is five. He took me to the fridge and asked me for a popsicle, except, he couldn’t form the words or sounds he could make the day before. The look my baby gave me… I immediately sat down, the both of us hugged and cried leaning against the fridge.
Ok buddy, we are going to figure this out!
We have a list serve called Parent to Parent out here (well, there is one in every state) One of the things they do is match you with other families who also have similar journeys. We tried to find a match in state and were unsuccessful. So I wrote up Danny with all of his strengths and challenges and regressions with what we had already ruled out and asked our local coordinator to post it nationally for us since we were hoping for someone who fit and had medical answers for their family to point us in a direction for our docs to go.
I’m not going to lie to you, I got some very off the wall responses. But, buried in the craziness was an email from a mom in upstate New York which showed promise. We exchanged emails for a few days and then we talked on the phone for about twenty minutes. She directed me to the United Mitochondrial Disease Website and my epiphany. Holy crap… right there in black and white is Danny.
She also directed me to Dr N in Cleveland. At the time to make an appointment, you needed to write a synopsis of the medical then fax it over. It would be stuck under the doc’s nose and if they thought they could help, then you were given an appointment. So, expanding on the email I sent looking for a parent, I sat down, wrote him up faxed it over, and ran down to the Danny’s pediatrician’s office armed with printouts. As Dr Pam and I were talking, my cell phone rings, Dr N will see your son, the first available appointment is in nine months.
Fast forward nine months later.
Danny is still five. We have finally landed on a placement for him for elementary school after mediation. He was adjusting to Shaffer, and his regressions were right on top of one another. We were getting almost no down time to regain skill.
So, Dan and I hop a plane to Cleveland. Armed with binders of data (in case I have to “prove” regressions), medical evaluations, lab results, MRI’s, ect and everything Danny needs to make a successful flight, no wonder the airline folks took pity on us. But we made it.
At our appointment, Dr N spent the first couple of minutes reading labs and evals. He put it down and started examining him. After an hour, I couldn’t stand it anymore and I asked him if he could help. In a very matter of fact manner, he told me that we were most likely looking at Complex 1 mitochondrial disease.
How do we test?
We talked about labs and muscle biopsy and if I really needed it. You know what, we did. Many, many docs kept telling me that my son had Autism and kids with Autism regress, quit looking for a magic bullet.
So, right after his sixth birthday we flew out for a muscle biopsy.
Another trip out a couple of weeks later, Danny had mito.
This is going to sound crazy, but I was relieved. What was going on his little body did exist and had a name. Well, sort of. There are 40 named mitochondrial diseases. They think there are as many as 200, Danny happens to have one of the other 160.
So, we wait for science to name it and come up with a cure.
But it exists. We are not crazy, we did see the skill loss. And when we actually started treating the underlying medical condition, he got better.
Ok, not typical, but stronger and happier…better!