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/