Raising Rare Boys: You took the Words Right Out of my Mouth

In early June, I participated in a meeting by webcast hosted by the Food & Drug Administration (FDA) to learn more about the neurological manifestations of inborn errors of metabolism. What all that means is advocates and patients gathered to discuss what it's like to be a patient with or the caregiver for someone with an inborn error of metabolism, and what the impact of those diseases is and also provide a chance to make our points regarding what the FDA should consider in reference to clinical trials involving patients with these diseases. MPS II (Hunter Syndrome) and the family of MPS diseases fall squarely into this disease category but also PKU, Batten disease and many other disease patients and caregivers/parents were present and well represented. This meeting might have had a huge impact on the FDA as they learned about our diseases but it had a huge impact on me as a parent.

I didn't need to say anything the parents and patients in attendance took the words right out of my mouth...but we'll get to that in a second. Let me respectfully share with you some of the comments that resonated with me, and that I now think about frequently...these comments are burned into my mind but left an indelible mark on my heart.

From one of the parents about Batten Disease (paraphrased), My kids loved baseball. My kids ran around and played baseball. Now my child needs a machine that runs 24x7 to ensure he does not drown in his own saliva.

My take away - My kids love baseball too. They can walk, they can run, and I cherish that now but that could change too soon, and it's precious. It also made me realize that today is today and tomorrow is not guaranteed. I need to do everything I can to preserve what I can and help them how I can, and hold on tight to what we have now (minding that one of my sons is not doing as well as the other).

I have two children with MPS, and I heard a parent describe that in their particular disease one child was starting to decline more rapidly than another, and the other child asked if that was going to happen to her, and was in fear of what awaited her, and eventually she did end up in the same state as her sibling.

My take away - This was heart wrenching to hear. My kids are young. I wonder how much they know about the effects the disease has on each other. I see them look at each other when their weekly infusion is delivered, when their brother gets a needle put in his chest. How much do they notice about each other? I know my 8 year old wishes his 5 year old brother would talk and would be OK but how much are they beginning to fear by seeing the disease in one another?

I learned so much from these parents about what kids do who are frustrated because they cannot communicate. Children crying because they can't communicate their basic needs, and that is unbelievably frustrating. Parents also offered examples where someone might perceive a child is acting out by throwing a cup at them but really the child just can't communicate that it's empty and doesn't know how to communicate that or can't, or can't put the cup down.

My take away - My son gets what he needs done by pointing, pulling or guiding your hand, and also sometimes using his words. He gets very, very frustrated trying to understand no. I felt understood by these other parents, and found new perspective on what I might be seeing in my own son.

I learned about PKU. While these patients will live, they have to live with very restrictive diets where one patient talked about having to eat processed cheese. It was very interesting but also a notable struggle.

On the subject of the FDA and Clinical Trials comments most moving to me are:

Parents said why are we trying to prove efficacy of these drugs on kids who are different every day, every hour. It's hard to prove efficacy in this space. Let's focus on safety and get these drugs/medicines out to these kids, most of these children are dying from their disease and need something before it's too late. Families mentioned trials that had come and gone because of the efficacy requirements they couldn't meet, or trials they couldn't gain access to...

I would have said this but didn't have to...

Why are children from other countries benefiting from drugs and trials that children in the U.S. can't have? Why are other governments making decisions based on the same data set and allowing their patients to participate in trials? Let our kids have access too.

I would have said that but didn't have to...

This was a great, well run meeting, and I am hopeful that this helps the FDA along with our children and families. The parents were just simply amazing, had all the "right" things to say and I was in awe of all that the human spirit can endure, and devastating effects that I can now so visibly see through their eyes. The pain, the suffering, the drive to do something, anything, those who had lost children but didn't want someone else to lose theirs. It was one of the most moving experiences of my life. Then as that meeting concluded we went back to our own battle with Hunter Syndrome.

Fast forwarding to the end of June, we traveled to Chicago to be considered for a clinical trial for one of our sons, trying to meet some stringent eligibility requirements as this trial is in the efficacy phase. The does it work phase. All over the hotel, I saw these really fun loving people wearing these Superhero shirts. Every elevator ride I took, one of these Superheros was in the elevator! All of them really fun folks! One group of guys asked me why I didn't have a beer in my hand, and my response was "even though you're on vacation, you're never on vacation from being a

This guy made the laundry.

Mom but I hope a beer is in my future but first it's laundry." I headed to the laundry room to do my Mom job before any beer is in my short term future. These folks were so happy and celebrating and they were everywhere in the hotel!
Next elevator ride, I asked the guy in the elevator "why are you wearing a Super Man shirt?" He said "my grandson has pediatric cancer, and this is for him, Sammy's Superheroes. We raise money for pediatric cancer. There was nothing to treat his rare cancer and we raised money for the hospital (Lurie Children's)." I told him I was there for a clinical trial for my kids...he wished me heartfelt luck, he knew our battle and said there isn't anything out there to treat kids, everything is experimental. I exited the elevator, doors closed, and I thought wow, what an amazing thing to hear...and I went off again encouraged to wage our battle, and encouraged that so many had rallied around Sammy, and that yet again someone understood in a way what we're facing. Later, I thought my car was being brought around at the hotel by the valet and it turned out to be one of the Sammy's Superhero's. Same. Exact. Car. So I have a Superhero ride, I need to save the day for my kids!

Here's their site, check them out: http://sammyssuperheroes.org/

So I leave you with all this bravery I've witnessed in June. This intense love, intense frustration, a deep sense for the human spirit, some defeated in their battle, some victorious but still scarred, some trying to save others, and these silent battles that aren't becoming so silent any more. These threads that bind all these groups together and make us able to "take the words right out of each others mouths".

The Cherrstroms

Photos taken by Jack during our Chicago Clinical Trial visit