An Aching Heart

Although I have had many many wonderful people with me on this journey through life with Hunter Syndrome, besides Ryan, I have only one friend who has been with me for this whole ride and understood exactly what it is I am going through. Carolyn. The reason is this: with every other form of MPS, at diagnosis, the diagnosis is known. Although not good, parents generally know what is ahead. With Hunter Syndrome, it’s different. Parents don’t know, possibly for years, and their child could take one of two courses… the below blurb I’ve copied and pasted from my last entry: One, you child has physical problems and differences, but is otherwise able to lead a relatively normal life (lifespan in the attenuated form varies because it depends on the degree of physical disease the boy/man has and now that ERT is available, it is expected that lifespan will increase dramatically). The other form, your child starts out and spends a few years developmentally okay, but then plateaus and begins to regress until they are in a vegetative state and pass away in their second decade of life.
Carolyn’s son, Danny, has Hunter Syndrome, was diagnosed about a year before Trey and is almost a year and a half older than him. Soon after Trey’s diagnosis I began emailing with Carolyn because our kids were having similar issues and we could discuss what to do, who to ask, and how to decide. Also, many boys with the form of Hunter Syndrome that affects the brain, have a more severe form, in which their development starts to decline closer to the age of 3. This was not the case for Danny or Trey. So, one of the biggest parts of my relationship with Carolyn, which was the mostly silent, but sometimes spoken, was the hope that our kids’ brains would be okay.
I recall calling Carolyn after one of Trey’s visits to Dr. Escolar and just sobbing. Carolyn also took Danny to see Dr. Escolar, so she knows the fear that those appointments brought, and could help me back to… sanity. Every 6 monthes going back to see if you and your child’s life will take one path or the other. Unless you’ve actually been through that process as a parent, it’s impossible to feel the fear, dread, and elation of those visits. I called Carolyn because after Dr. Escolar had told us 12 monthes earlier that she thought Trey’s brain was okay, she said she could not be sure, that Trey’s IQ results were not the same as other kids whose brains were unaffected. I was devastated and scared. I thought I had been told I could give up on this fear and now it was back.
Then Carolyn told me that Danny’s brain was affected. She told me this in the spring of 2007. My heart fell. But, we also knew that this IT trial (enzyme treatment for the brain) was coming, so there was no need to give up hope completely, yet. While I put my energy into making sure Trey’s brain stayed strong and would not need the trial, I also kept hope that the trial would open and Danny would get into it.
For those of us who have been around long enough, MPS II parents have been waiting for the IT trial to open. We were told it would open in December 2007, then were told it would be early 2008, then spring 2008, then fall and winter 2008, early 2009, spring 2009, and finally, in April I got the call saying that yes, the trial would finally be opening in summer 2009. We had been waiting for this moment, with our kids, each 6 monthes going through development tests to see where our kids lay. In the fall/winter of 2008 Carolyn told me that Danny’s development was still within trial range, but it was getting close to being too low for fitting inclusion criteria. In February 2009, Danny’s tests were slightly outside trial range, but still close to the cusp. If this trial didn’t get started soon, Danny might not make it in.
I found out yesterday Danny did not make it into the trial. Carolyn spoke with Dr. Muenzer yesterday. After monthes of wondering and waiting and sending unreturned emails, Carolyn found out that after reviewing Danny’s results with Dr. Escolar, the doctors involved in the IT trial decided Danny had not made enough progress developmentally to be included in the trial. My heart is just aching. I have been through this journey with Carolyn since Trey’s diagnosis. Now her son has taken one path and mine has taken the other. I don’t even have the words. And I can’t let myself go there and completely be with her because I would collapse, like she has done.
My heart is aching. Carolyn, I love you (and I will be your accomplice, I hope you know that).
Deb