This is a question that I have been contemplating lately. As most of you know now, my son Judah has Noonan Syndrome. I have written about this several times now and it seems to be something that comes up in my heart and mind quite often. February is National Noonan Syndrome Awareness month. I have been reading a lot of posts on our support group page on Facebook. They are doing the regular fund-raiser events: t-shirts, lollipops, art auction, etc. I find myself wanting to help with things like this because the money does go to the foundation for research, meetings, webinars, etc. The thing is, I don’t think I am the kind of mother that will wear a t-shirt or eat a lollipop that says, ” I love someone with Noonan Syndrome!” It’s not that I don’t love my son, obviously, and I don’t judge the people who do wear/purchase the products. It’s just that I don’t feel like advertising that my son has a syndrome. I’m not ashamed nor do I want him to be ashamed, but the syndrome does not define who my son is so I don’t feel the need to point it out. Honestly, half the time I forget that he has it. I just see Judah. Yes, we go to therapy 4 hours a week, we have to feed him through a gastrostomy tube every night, he is small for his age and has some delays, but to us he is our perfect little Judah Reece!
Right now, those are the only issues we have with Judah. I know we have much more to tackle in the future but we will cross that bridge when we get there. Right now I am just trying to stay informed and do as much research as I can. I read a lot on our support group page. Sometimes this isn’t so helpful. Just last night I was crying to my husband about some decisions we have made and will have to make potentially and if they are/were the right decisions. One of the decisions we have had to make is whether or not to put Judah on growth hormones (GH). Many people in the group have questions about GH as there isn’t a lot of research on the matter. As of now, with the information that has been provided and found, we have decided not to pursue GH treatments. Judah has a 7 degree curve in his back. 10 degrees is “needed” to acquire a scoliosis diagnosis. GH increases the risk of scoliosis and the endocrinologist that we have seen said that if we were to put Judah on the treatments he will have to see an orthopedist very regularly. Also, Judah’s specific mutation for Noonan Syndrome is called PTPN11. It has shown that these specific children with this mutation do not respond as well to GH as some of the other mutations. In order to correct this, the endos often will increase the dosages of the GH treatments for PTPN11 patients. And as of right now, there is no research to say that these treatments don’t cause other problems/diseases in the long run like cancer for instance. There are many parents who have the same concerns that we do. Others, though, seem to think it is a very simple decision. They say things like, “If your child was diabetic, wouldn’t you give them insulin? It’s the same thing for GH.” I don’t find it as simple 😦
Other problems that parents post are things like their child is showing signs of possible autism, they have trouble making friends because of the syndrome, they notice they aren’t the same as everybody else, they are experiencing delayed puberty which causes more social problems and many, many more. These are things we will have to conquer as Judah gets older and I am terrified. One of my college professors and friends posted this article tonight on Facebook:
I can relate to every single one of these points. Most people don’t know because as it says in #7, it is hard to talk about Judah sometimes. Most people don’t know that we still struggle with things. I posted about two weeks ago on my Facebook that Judah ate a raw banana for the very first time ever!! I was so excited by this that I just had to post it. We have been working on textures in therapy and that was a great breakthrough for him. It was amazing to hear some family members express their confusion of not knowing we were struggling with such things. I know that is partly my fault for not expressing it but I feel like they should be aware somehow of what we are going through. I know no one could ever know unless they live with it but maybe the awareness will be there someday, or at least the WANT to be informed. In my dream world, all of my family and friends would at least Google Noonan Syndrome or read a book about it. Maybe then I wouldn’t feel so alone.
And most of all as I said before, I am TERRIFIED. I am terrified that we aren’t making the right decisions for our son, that he will have a hard time coping with this in his life, that he will be bullied for his appearance or educational level, that he won’t have friends, that he won’t get married someday, that he won’t be able to have children of his own, that he will have learning disabilities, and the list goes on. All I know for sure is that we love Judah and God is walking with us through all of this. And maybe, just maybe I will be wearing a “I love someone with Noonan Syndrome!” t-shirt someday 🙂