Do you still have Hunter Syndrome?

Nicholas

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.

Alex

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

http://myunplannedson.com/2016/02/29/world-rare-disease-day-rarewriter-blog-linkup/

Birthdays

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,

Amy
The Ice Queen