An Honest (and Slightly Immature) Look at PBD: GDFR at the GFPD conference

This past week, Todd, Max, and I attended the Global Foundation for Peroxisomal Disorders (GFPD) Family and Scientific Conference. The conference is meant to bring together families from around the world that have children diagnosed with PBD.

All the best PBD doctors were there and available for you to talk with. You could have these great non-rushed conversations about different issues – hearing aids or cochlear implants, are vitamin supplements necessary, etc. and know you were getting advice from doctors that really understood the needs of PBD kids.

The conference was a whirlwind of emotion that I feel like I’m still recovering from.

First and foremost, there was the joy. The joy that there are other families out there like ours. Good, normal, loving families that are having to deal with this terrible disease. Families that didn’t do anything “wrong” other than having a case of bad luck. I mean, I knew there were PBD families like us out there, but to be able to meet these people and look each other in the eye and think – you GET IT. It truly was an instant bond.

The environment of inclusion there was also amazing. Never did I have to “explain” Max. Everyone knew Max had feeding and vision and hearing issues, because they dealt with the exact same thing every day! That IS their normal. You were given the opportunity to leave your child in the child care room, which was manned by the most loving, amazing women – most who had substantial experience with special needs kids. I’m not sure that Max has ever gotten as much loving as in that room. I basically wanted to bring everyone in there home with me.

There was also hope. I saw these amazingly, loving kids doing so much – talking and walking and giving amazing hugs and I found hope that Max would be able to do these things. Of all the emotions I’ve felt over the past few months, the hardest and most destructive one has been hopelessness. There is no reason to feel hopeless.

However, there were also some blows that I’m still recovering from.

There was frustration. When Dr. Braverman, a leading researcher of PBD, explained that being able to test a combination of Betaine and an additional drug, which is thought to have the ability to improve peroxisomal production in these children, is still 5 years and $1 million away, you could actually feel the air being sucked out of the room.

There was sadness. I knew that PBD kids struggle with hearing and vision loss, but I didn’t realize what a foregone conclusion vision and hearing loss would be. Max will be blind and deaf, it’s just a matter of time. That’s hard.

But the worst is that I learned that Max will pass. I know, I know – I said it was a terminal disease and I knew that it was. But there’s this part of my brain that said – well certain kids might pass away, but not Max. I mean look at him – look how healthy and happy he is. Unfortunately, I learned that there were a lot of parents that had PBD children that were healthy, until they weren’t. It’s degenerative and this journey is only going to get harder.

Parents who have lost their children are invited to attend the conference as well. This may seem odd, but, as I said, there is a special bond among PBD families. These parents are there for many of the same reasons we’re there – for support from others who understand. During the sessions about the latest treatments, these families meet with each other in the grief counseling room– affectionately known as the “scary room”. I don’t want to go to the scary room.

On the last day, we gathered outside and each child’s name, both living and deceased, was read and reflected upon. Then, we released balloons into the air. It was very moving and then I went back to the hotel room and wept. I had held it all in for the previous days, not wanting to be the crazy new girl that can’t keep it together, and when I finally hit the release button the tears came like a fire hose. And afterwards, I felt better. And then I took my puffy eyes downstairs and drank beer with my new PBD Mom friends and even though there was sadness and frustration and PBD itself is just awful, the conference was actually kind of perfect.

A few pictures from our days in Omaha: