“Do I expect your child to live 2 decades – No, probably
not.” Dr. Schneider said it so matter of fact that it took a minute
to settle in. It took one minute before I could feel the cry coming
– not a cry that comes from the throat, but one that comes from the gut. A
cry so awful, that the minute it escaped my mouth, I felt embarrassed by how
awful it sounded.
I’m not sure how it’s supposed to feel when you’re told your son
won’t make it to adulthood, but for me, it felt like I had been kicked in the
kidneys, my heart was exploding, and I had taken 5 shots of tequila all at the
same time. Even now, two days later, I feel like I’m recovering from
a KO punch. And I’m tired.
It has already been a long road and it’s not the first time I’ve
made that horrible crying sound. I made it when Max was diagnosed
with Failure to Thrive and admitted to the hospital. I made it when
they told me he would have to have a g-tube to survive. I made it at
the initial genetic diagnosis of a duplication of the 16p11.2 chromosome (a
diagnosis that has since been labeled as benign). And I made it at
the diagnosis of his peroxisomal biogenesis disorder (PBD). Each
time, I rationalized and compartmentalized until I was able to function under
each of these circumstances. But this one? How do you
rationalize and compartmentalize this one? The only comfort I can
find is that one of my main worries used to be that I would pass away and there
would be no one to look after Max. In all likelihood, that will not
happen. But how could I live in a world without my sweet Max?
The first question people seem to ask about is usually in regards
to treatments. Although there is research being done, there are
currently no available treatments. There are only a few hundred
children with this disease in the whole United States and research is
limited. There is a Global Foundation for Peroxisomal Disorders,
which we plan to join and hopefully gather information from.
I’ve read enough blogs to know I’m supposed to put together some
beautifully profound and inspirational thoughts, but that sounds
exhausting. Instead, I will say – this sucks (hence the
perSuckisomal blog title)– because it totally does and nothing anyone says or
does is really going to make it much better, but there are definitely things
that everyone can do to make it a little easier:
---> Have understanding and empathy. All of this is
very hard for us to talk about and answering questions about his diagnosis is
very difficult, if not impossible. The hardest question by far is always
“How’s Max?”
---> Treat us like you always would. We want
normalcy so bad. Please don’t send us notes saying how sorry you are to
hear about this. We understand the sentiment, but it feels a lot like
pity, and that doesn’t feel great. Instead, I like the following
sentiments:
1. Max is doing so well (because he really is - he's such a happy little boy)
1. Max is doing so well (because he really is - he's such a happy little boy)
2. You guys are wonderful parents and we will help you any way we
can
3. Todd, your wife is smoking hot (sometimes it’s just nice to
hear, ok…)
---> Give
support. Your thoughts, your prayers, your bad jokes - All are always
welcome.
Thank you for reading.
Here is a FAQ if you are curious about the disorder: http://www.simd.org/links/PBD-FAQ-updated-june-2012.pdf
Also, here is a video of the cutest little dude around:
