Raising Rare Boys: January 2015

Disney

This was our first vacation. Time off from school and work so we could go to the National MPS Society Family Conference, and extend a few days after to get in some much
needed play time with our kids. For two of our boys, it was their first plane ride, and first hotel stay not associated with a natural history study or clinical trial. Our first time at Disney. We were nervous about the trip, not stressed, but nervous and excited! We had no idea how the boys, mostly concerned about Alex, would do on the plane, dealing with lines at Disney, walking...just a lot of nervousness. All that went actually pretty well. Frontier Airlines was awesome during the peak holiday season, even calling me one of the strongest mothers at the beginning of our trip. Toughest thing was Alex didn't understand why he had to be in his seat with a seat belt on.

We loved the pool at the Yacht Club, and our most favorite park was Epcot.

Jack loves English culture, and his second favorite country is China which you can get a quick glimpse of at Epcot. It was a very crowded, holiday time at Disney but we did our best to navigate and get the kids on as many rides as possible. Jack's coaster hungry sense of adventure was never fully satisfied, and he kept comparing Disney to Cedar Point in Ohio.

All the kids were adorable, and we really did all we could to ensure they enjoyed their time there. Nick kept telling me, "You're my best friend. I love you." That was lovely, and a precious moment.

Alex didn't talk for about 2 days which really scared me. I think he was really overwhelmed with the conference and Disney, and just needed some time to acclimate. Until he started trying to talk again, I was concerned that maybe his hearing might be gone again due to persistent fluid behind his ears, this is just a fact of life with MPS.

We really enjoyed our holiday time together, and then time at home together. It was a special, precious time.

The National MPS Society Family Conference

Truth be told, we've had too much happening raising 3 boys, 2 with Hunter Syndrome (several surgeries in the early years) to attend the National MPS Society Family Conference but we made this year a priority to go. The Society is where you turn when you're first diagnosed, they take family support very seriously, and they do it well, trying to give you the comfort and information you need at that time. They are also with many of our families through the triumphs, the setbacks, and when families face the loss of their child or children. They also are passionate about research and finding treatments and cures.

Baring the full truth, I (Amy) have also been too much of a coward to go. I knew if I went I would see families and children that would leave a wound on my heart, giving me even more to think about than my current burden. We'd also get a dose of hope too. It was time to go and embrace these positive, wonderful people!

What I also loved about the conference is the diversity, all walks of life, all socio-economic, all races, all orientations, all represented here which is unfortunate but awesome all at the same time. Equally humbling was looking into through the lens of how different we all make decisions and choices for our children, I could see in some cases how doctors have to work with many views, and vantage points when working with parents who are advocating for their children. For example, one parent may not have a tolerance for allergic reactions to treatments, where another parent may and push through the period of time that the child may have an allergic reaction and keep treatment going. Some parents might be looking for less pharmacological solutions for their child's disease, and be seeking more homeopathic or alternative, natural remedies. It was just really humbling to see how parents cope and make these really, really big decisions for their children, through a lens that only the parent can understand.

For this conference, I felt that it was important that I listen more than I talk, take in this conference in its entirety and observe which is a definite switch for me. The agenda was well done. I am going to break it up into groupings of messages and information here.

The Encouraging News

MPS II (Hunter Syndrome) Party of 1 or 2?

The Society has this daycare as part of the conference so the parents can attend breakout sessions, etc. It's called, Camp Courage. Any child, anyone with MPS or their siblings can attend this daycare. It's an awesome sight, and the people who staff it are amazing! I saw one of the guys in the elevator, and he knew Alex well! These are people who have the calling to work with Special Needs Kids, these are angels who care that much about another person. I noticed one of the families who were checking in kids to the daycare had lost their brother to MPS II, Hunter Syndrome, our kids disease, still there helping and dedicated to the MPS Society. So inspiring and brave of them!

What was really interesting at the daycare and throughout the conference was that people could not tell that Nick has Hunter Syndrome!! Wow, that is awesome!! His early treatment, his involvement in the IT trial is awesome and the results are evident. So encouraging, the downside is it may not be enough. I still eventually may lose my best friend to this disease. All we can take comfort in right now is that we're doing everything that is available for Nick, and so far the results are great! A sigh of relief for now. I wish the FDA could meet Nick, he speaks volumes for what good medical care, and benefits that approved and trial drugs provide to very sick children.

Also really notable is that Alex's facial features, coarse facial features are common with MPS, are really mild. I had a great conversation in the pool with a Professor of a Nursing Program in Texas about MPS II, Hunter Syndrome. He was really nice, and had inquired about Alex's condition, and just thought he was likely mildly autistic. We had a really nice conversation about nursing, home health services, specialty pharmacies, and Alex's prognosis. He too had no idea Nick had Hunter Syndrome. For Alex though, his challenges from this disease are more than skin deep or the look of his face, you can see the disease in affect to his abilities, you can see it in his hands, and knees, etc. For Alex, he's counting on more breakthroughs. Still though, he's even encouraging as he's in relatively good condition considering this is a deadly disease.

Strong People on the MPS Board, Staff and Researchers Supporting our Diseases

I took tons of notes. Doctors, Researchers, Pharmaceutical companies all driving forward providing information and direction that as parents we could consume, consider and act upon. Think you're smart? Spend time listening to some of the world renown researchers and Doctors who are focused on treating and curing our diseases. You definitely won't feel like the smartest one in the room.

There are some really strong women working on MPS diseases such as Stephanie Bozarth,Carrie Dunn, and Lisa Todd who I met at the Conference. Several of them mothers of children affected by MPS. Polished, smart, articulate, passionate and driven are some of the words that come to mind of these women who are on the MPS Board, and some of the folks working for Shire Pharmaceuticals. Dede Long, Nina, Carolyn (our adviser - who was not there) and Ann Barbier are stand outs, not to mention others I'm sure I left out mistakenly. Ann's presentation style was awesome. She took complex concepts, gave a simple explanation with relatively simple slides on major research and clinical trials underway. It was like watching someone play a beautiful, piece of classical music but with words. Ann was a great presentation role model.

I also think of Melissa Hancock Hogan as the godmother of MPS II. She received an award for her support of families, medical information/direction and social media efforts and support of the MPS Society, and she talks about it on her blog here: http://www.savingcase.com/index.php/2014/12/20/thoughts-and-thanks-on-the-directors-award/

The women were impressive, and the Dads and men were equally as impressive...volunteering, fundraising, discussing the science of disease, disease management, etc. We learned so much from an Orthepeadic Surgeon, a world renown physician, and an Academic researcher. Think you're smart, sit with them for a bit. It takes everyone, all in, to make a difference to move this forward.

Ready to Work but Funding Is Needed

The National Institute of Health funding is key, funding from them is in the millions. It would be short of a miracle or a phenomena to be able to individually fundraise what government funding of education institutions and researchers is able to provide. There are a group of Iowa State students who are going to focus on disrupting the disease, there are inexpensive research methods using zebra fish that help move our understanding of these diseases, and their variability, and creating breakthroughs to treat and cure these diseases. To do these things we need to fund them from the government or from our private fundraisers, we're even talking about as little as $300 USD develops specimen to research. Small amounts of money move us forward, but large sums and funds support clinical trials, support major steps forward.

Difficult obstacles to treatments and cures also exist, such as proving efficacy in a variable disease population. Just looking around the room at the conference, the variability of the disease is just simply astonishing. Halting the disease in its tracks is a major scientific breakthrough but improving, showing gains is required and is difficult to prove again in the face of variability, testing challenges, and the many challenges our disease presents.

Gene Therapy is on the horizon but will it come fast enough? Will we be able to overcome some of the obstacles? Only hard work and the support of everyone will get us there. I can't tell you enough how important it is to give families something they can do to help their children through treatments and eventually cures. We can't sit idle and watch our children and adults wind down and die, we can't lose our best friends any longer. We're waging a war against this disease, side stepping land mines, and trying to carry our children out of the battlefield. It takes nothing short of courage and bravery.

Beautiful Words and Experiences

At the conference we spent time in breakout sessions, each with different focus areas, one might be about managing MPS diseases, one might just be all mothers, fathers, those interested in fundraising, etc. These are some of the most meaningful experiences to me:

"We're guardian angels for these children." Just let that sink in for a moment, these children were given to us as gifts to love, raise, and protect. I am not sure if there's anything more moving than looking at yourself as the guardian angel for your child.

Special stories were shared of how Disney folks made our children feel special just by acknowledging them, such a simple thing, they may not receive from the outside world.

A remembrance ceremony was held with the parents who have lost children to these diseases it was very tough to participate in, holding a candle, watching a slide show of these children's faces. It was particularly moving to talk to parents from Ohio who had lost their son to Hunter Syndrome. They were so strong. Seeing their faces was beyond moving, their commitment was inspiring...to not expanding the circle of those who have lost.

A newly diagnosed couple with a son from Chicago. They looked devastated. I talked to them, as did others I am sure, I applauded them for coming the first year of the diagnosis. I assured them they had the best doctors, genetic counselor, and are doing so much already to help their son. I told them that it felt terrible right now but it was going to be OK. They were going to be OK.

Then for 3 days I woke up at 2:00 a.m., and cried. I haven't cried once until then. That last time I remember crying was when I was pregnant and got stuck in a round-about door at Crate and Barrel, and I smacked into the window as I tried to exit. Then when I was talking to my neighbor, Kerrie, about my son in the NICU, I think it was Alex. Then also the time we said bye to Jessica, an awesome caretaker to our kids, I sniffled. Oh and when a friend came over to comfort our family here in Cleveland, reaching out to say you're not alone, I cried. It's such an infrequent thing for me. After 17 days for each child in the NICU,a deadly diagnosis, being the unknowing, unwilling carrier of a disease, the hardest of surgeries, weekly treatments, grasping at every piece of information that provides hope and the ongoing battle my kids endure. Keeping a clear head, a positive outlook. Not one tear shed until then, I even made restaurant reservations for my husband and oldest son while we were at Disney so I could cry. Dan returned and said your eyes are puffy, you look like you've been crying, thinking it was because I was watching the Sound of Music. He had never seen me in this state before, and not one person in my family really liked it. They count on me to be the pillar of strength, and when one pillar is down it's hard to hold up the roof. I am done crying. I hope. It actually didn't really make me feel any better, and it made me look even worse. I think it has to do with the length of the battle, just hitting our 4 year mark, and the roller coaster ups and downs, and the tough, tough decisions you have to make. The longevity of the fight, and seeing some people lose the fight but I hope I am done. I am done.

And now you're done reading this post, and I hope that you are not crying either. Truth is these kids are worth it, and that should move us all, not to tears but to hope, action, and to soldier on until we win the great battle with this terrible, terrible disease.

Stay Strong,

The Cherrstroms