Monday, February 29, 2016

Do you still have Hunter Syndrome?


Do you still have Hunter Syndrome? Are you still sick?

Dan and I often think about how well Nicholas is doing.  You wouldn't even know that he has Hunter Syndrome.  He's making every developmental milestone. He has friends.  He generally looks well, only a slight bossing of his forehead.  Very mild facial features are mild signs we see that he still has Hunter Syndrome.  I now understand why people might go off their medication thinking that they are fine, only to find that the medicine was sustaining their wellness.  We often think, as parents, do you still have Hunter Syndrome?  This is the experience we wish we were having with Alex and we wish others could have where you feel that things are going as well as they possibly could and your son is OK for now.  Do you know how thankful we are for this - for his life- for access to medicine and for the ability to help our son?

During last week's clinical trial visit, Nicholas said to me, "Mom, why do I have to go to the hospital? Why do I have to take medicine?"  This is a question we field every week with his weekly infusions where he screams with every stick of the needle, and monthly when he goes to his clinical trial visit for dosing. For now, he suffers the weekly and monthly trauma of keeping him well.  He describes his monthly doses as times where he gets dizzy from oral sedation, and when someone pushes water into his back. He is starting to ask these hard questions, and is so intelligent it's getting more and more difficult to try and shield him from the things he has to do to keep him alive and well.  It's a real struggle we're living but it's one we're happy to struggle with because he is alive, he is well, and he is going to have an amazing life.  This is what everyone deserves.

He dreams of being a Chef, or a Chef and a Fire Fighter, or being a contractor and fixing and building things. He has dreams of his future, and it looks possible at this point, achievable.  He wants to be a doctor. He is taking in everything around him with the optimism of a child.

Nicholas is the new generation of Hunter Syndrome kids.  This was his hard fought battle.  His infant months were hard, and full of procedures that none of us would want to face.  That feeling of defeat when our genetic counselor called and said Nicholas has Hunter Syndrome too is forgotten for now.  He is winning, and it is a result of his hard work. It's a result of his will, It's a result of medicine, both the medicine he takes, and a result of the people who provide him with care, It's the result of being proactive and knowing what to do.  It's the source of our optimism.  It provides our drive to do more, push toward a cure, bring gene therapy and more treatments to see the light of day.  We need more people to work harder to bring these treatments to light more quickly, as early as possible for all those who suffer from awful diseases. That hard work has to be supported with research funds, with broad awareness, with people choosing these professions, choosing to do the right thing for others. You can see the results.  We have evidence and proof that a person has his life back and his family is beyond grateful for that, and when he achieves his dreams the rest of the world will be grateful as well.

In celebration of World Rare Disease Day, let's bring these lives to light and get more wins for others who suffer without possibilities.  Let' s win more, and lose less.  Let's do this for Alex so he can have the same dreams, and conversations that we have with Nicholas.

The Cherrstrom Family

Sunday, February 14, 2016


It was his birthday too. Icy. 
Post ball play pic in the snow.
He looks so annoyed!
Yesterday was my 2nd birthday in my 4th decade (trying to say it fancy so I don't have to say the number)! It was a wonderful day filled with delicious food from a Cleveland gem, The West Side Market, prepared by my skillful and handsome husband.  My family surrounded me with love and the kids couldn't have been cuter although they were very loud. Feeling like things and people are loud comes with age. When you have a birthday the day before Valentine's Day, you have to plan months in advance or you're going to end up with a red, heart shaped cake, and forget about going to a restaurant. (I've been bitter about this for years!  ha! ha!) We just bopped into the West Side Market and got it done! My at home dinner was the perfect way to mend my cold I picked up from our recent clinical trail visit.  The only complaint I have is I was a little offended by the weather, and the fact that the earth froze over to some of the coldest temperatures of the season.  What is this, the celebration of the ice queen or some icy bitch? What do I expect, I was born in February after all!  My favorite part is all the wishes from my friends and family, they're heartfelt and lovely. They mean everything to me.  I am so grateful!

My birthday always reminds me of a conversation I had with a doctor who was part of the practice that delivered my sons when they were born.  Alex was just born and it was December.  He was transported by the transport team to another hospital because he couldn't breath and was very sick at birth.  Unexpectedly sick.  I think even my doctors were surprised that they couldn't anticipate this, and why it happened, we'd come to find out later why it happened. Hunter Syndrome was just making its initial appearance.  I remember talking to them about him being full term, of good weight, and I think it really surprised them and disappointed them as well.

So together, we sat there surprised, maybe shocked, and sad.  It was Christmas Day, and the Doctor pulled a chair up to my bedside to talk to me.  I was quite sad, and tired.  I missed my infant son who was alone at another hospital.  Dan would go back and forth and many times I said "just stay there with him, I am fine."  The Doctor sat by my side and said, "Amy, you are young and healthy. You'll feel better if you get out of here and go to your baby's bedside.  I want to tell you the best is yet to come.  You're young. You're going to have the best years of your life ahead. " This just made me cry because I didn't feel that hopeful, it was a tough situation and I was exhausted.  After all, I had just had a baby.  He continued, " I ran my fastest marathon in my 40s.  I was in the best shape of my life. I had the best times in my career.  Life in your 40s is amazing, just wait."  Then he released me, and let me go to my son's bedside because he thought this was the best medicine for me, to mend my broken heart.  That is a great Doctor!  Sometimes you don't realize the moments and the things that people say to you in those times that will stick with you forever.

I always remember this now that my birthdays in my 40s are piling up.  These are meant to be the best years, and I am going to cherish every single one!

Thank you for the birthday wishes, and for being a part of our lives.  Happy Valentine's Day!

Love always,

The Ice Queen

Tuesday, February 2, 2016

The Defender of Mankind

When we were picking a baby name for Alex (Alexander), Dan really wanted to name him Jace, but a Jack and Jace were just too close.  We kept reading the baby name books looking for the right name to hit us.  I can't even think of a better name for Alex than the "Defender of Mankind" the meaning of the name Alexander. It gets even better.  His middle name means "Healer".

Little did we know, he would do just those things for his youngest brother, Nicholas.  He has defended him from the strife of MPS II, Hunter Syndrome.  Alex was the first to be diagnosed and that has really saved Nicholas. Alex, through his own suffering, has taught us how to save Nicholas. Alex is one of the strongest children I have ever seen.  He's mentally strong and just as strong physically if not more so.  He really is built like the "Defender of Mankind".

All of us having been working really hard to save him from this terrible disease.  Not a day goes by that we don't try to figure out how to help Alex.  There's a gap were trying to fill and it's from now until this date.

September 2017

This is the estimated completion date of the Clinical Trial that Nicholas is involved in, getting medicine into the Central Nervous System of children with Hunter Syndrome.  September.  That seems so far away.  It's with great disappointment that I read the year 2017.  I was so hopeful that this trial could get approved in 2016, and there would be less of a gap to fill until Alex could get the medicine that is helping save and stabilize his brother.  Since I can't personally move or influence the date, we are just going to focus on what we can do as a family, as teachers, as therapists, and Doctors to help keep Alex doing as well as possible. 

We're filling the time with therapy, seeing specialists locally, repairing existing damage to his body by scheduling surgeries this summer, and filling him with love, and hope, and telling him he is still here, he is still in his body and we can still defeat this.  Alex can still have a good life, and he can still get better if his brain and central nervous system get some help through medicine.  

While we wait out this time, we took Alex to hyperbaric oxygen therapy.  This showed some promising results that we are so very, very thankful for and for people who support us and keep telling us about things that can help us such as the oxygen therapy, such as nutrition, such as things that help cancer patients, those with Autism and others.  

We are also filling this time with love, and fun, and happiness because that is what any "Defender of Mankind" deserves.  

The Cherrstroms