Once we returned from Jackson, we started research on the internet. I spent every evening looking through scientific papers I found by googling MSD. One of the papers I read was about 10 children in France. 8 of them had died before 10. We knew of 3 patients that where over the age of 10 from the Facebook group, no others had survived.
From another parent we learned there was a treatment that had been researched, called Gene Therapy. Dr. Ballibio in Italy had performed a research study on a Mouse Model in 2011. Gene Therapy is the process of creating the correct Gene and injecting it through a vector (tube) into the brain or spine or other place throughout the body via a virus (common cold or AIDS, etc). Crazy I know, but it has worked on several diseases. Ballibio had made it work in a mouse, the mouse had MSD and should have died but it lived and it had very little symptoms. Alan (Dylan’s dad) had discovered this and told us about it. Alan had talked to Ballibio and the target was set. Time and money, Alan said, that was all we needed.
Ballibio and some other Docs where going to be at a conference for other docs in Cambridge, UK in July. Less than two weeks away. Alan said he was thinking of going. I invited myself and said we would go too.
I told Tom, my husband, should I go? I can go alone I told him. We couldn’t afford the tickets I really shouldn’t take the time off from work. We weren’t invited, the conference was for doctors and there was no guarantee we would even be able to meet the doctors. What was I thinking?
What if there is a chance? A 1% chance that our visit would make a difference. I told Tom, I’m going, even if it is a waste, I can’t stay home and wonder what could have happened. There was too much at stake.
So we went to Europe. We met with Ballibio and two other doctors. One of the doctors was Dr. Scholotawa, he had spent his entire career, he’s not that old, but at least 20 years studying MSD. He knew all about the different types, the symptoms, and how it works compared to treatments available. He is amazing and good hearted, a blessing for our families. He is also accustomed to seeing patients. There are doctors that just do research, doctors that see patients (clinical) and some that do both. One of the other doctors we met was not nearly as open or understanding to our situation. He was very intelligent and had developed treatments that had saved lives, but it was hard to get him to understand our timeline.
We know from other patients that Willow has a very short amount of time before she will get sicker. She will stop walking, lose her eye site, may even stop being able to swallow and eat. Once she becomes symptomatic any treatment will not be able to help her. The current treatments being tested stop the disease in its track, they do not reverse the symptoms. We think we have a year, maybe less. The clock is ticking.
When we arrive at the conference, it is doctors only, no parents. We hang around waiting for our time to meet them during lunch, we think we’ll have 1 hour. As the doctors walk up, they are very nice and pleasant, they want to be helpful. It is difficult because there is only a couple of doctors that know anything about MSD, they brainstorm. They have a couple of ideas that we can purse.
It is hard for me to explain how emotional charged up I was. Trying to keep my head clear so I could understand what was being said – although I barely followed what they were talking about. They are talking casually about treatments that can help our kids live, but we could have been talking about football and had more animation and emotion. I have found it is just the way it is, these doctors live in this world every day they have to detach so they can function and do great science. I however was a wreck, this was all new to me and I was trying not to cry and make a scene. We flew from Mississippi to Cambridge to spend a few minutes with these doctors. I wanted to beg them to help save our baby girl. My nerves where shot from all the stress and travel, it was all I could do not to burst into tears.
They tell us we need to get the patient data together in the database which Alan has already started. Ballibio says he wants to work on MSD, continue his work from the mouse model, but that they need to test in large animals. This is expensive and time consuming. How long we ask when he is about to walk away. “3 years,” he says. My heart drops, he was our best hope, 3 years is too long.
While we are there we are introduced to another doctor. He has a small pharmaceutical company that has designed a drug for another similar disease. He offers us the chance to test it on MSD. This gives us hope, we could find out as soon as February 2017 if it works. Best case scenario.
We left for a pub after a long day of waiting and as we are sitting having drinks we look across the river – there is a Willow tree (pictured here). We are able to connect with Dylan’s parents, Alan and Michelle, they have so much more experience with MSD. Alan has spent a year researching and searching for an answer. Super nice people, so glad they are on the MSD team.
I continue to contact doctors every week to see if any are interested in pursing research on MSD. If any have found new treatments or research developments. I’m pitching MSD like it’s a fancy new copier. “Don’t you want to make find out more about this complex disease.” Most aren’t buying off on it. Most are very busy, not enough time or resources.
This science business is complex and vague. I’m trying to navigate through it without a cheat sheet. I don’t have a marketing plan with a script on what to say to these doctors and what to offer. Do I just offer them money? What is the protocol? It is a weird place to be in.
We have some more good potential projects to fund. A couple of drug screening projects where they scan 2500 existing FDA approved drugs to see if any pop up effecting cells with MSD. If something pops up positive, than it is much easier to get that started on our kids since it is already FDA approved. It is also one of the less expensive research methods.
Did I mention I didn’t know jack about science. I flunked 8th grade biology. No joke, I took two science classes in high school. Biology 1 and Earth Science. Hated every minute of it. I’ve learned a few things in the past few months. I have Genetics for dummies in my kindle app and Microbiology for dummies in paperback.
I have a good science friend that actually studied science and she worked in a lab. She comes over and explains things to me and draws pictures. Our oldest, Kylee, is learning about genetics in 8th grade science. “Mom” she came home a few weeks after school started, “They have this cure where they just replace the bad gene with the good gene through a vector.” “Why can’t they do that for Willow?” Why, indeed.