Today, February 28th, is the national day to recognize rare diseases. We became a member of this club when we adoped H., and then again when we adopted R. I feel a little like my experience with being the mother to two daughters with a rare disease is quite a bit different from other parents. When your brand new child is 10 or 11 and is diagnosed with a rare disease, you can already see what the functioning looks like. When you have an infant diagnosed with a rare disease, you have no way of knowing how it will play out, especially with the syndrome that H. and R. have, because it is such a wide spectrum of issues.
Since I have a lot of new readers, I thought I would take this day to do a little education about Linear Nevus Sebaceous syndrome. (If you've heard this before, feel free to move on.) We've met new people, and with new people reading the blog, they might see pictures of our girls and wonder. I know people are curious, but are often too polite to ask. I don't mind talking about the syndrome, and am happy to educate, as it is a rare disease, and not well known. Here's a tip as to how to tell exactly how rare a disease is... If you have to spell the name of it to a doctor's office, it's pretty darn rare. And yes, I've had to do this. More than once. It also has its own Facebook group now, which I think is pretty exciting. It's even up to a whopping 89 members from around the world .
Please, as I'm describing this syndrome, remember I am not a doctor or nurse, nor have I played either on TV, or even really wanted to have anything to do with the medical profession. This is completely a lay description of the syndrome, as I understand it.
Linear Nevus Sebaceous syndrome is a genetic abnormality. (A change in one of two different genes as I understand it, though because I don't really understand it, I'm just going to stop talking about the gene part of it right here.) It is a genetic issue which effects the baby in utero. As the baby is developing, the genes which are supposed to differentiate into skin, bone, and brain go a little (or a lot) haywire. Instead of growing as they are supposed to, they over grow on one side (thus the linear part of the name). The brain overgrows and develops potentially significant abnormalities. The bone can overgrow and become much larger than it should. The skin overgrows by becoming sebaceous (weird, bumpy skin where the glands that normally do a good thing, overdo a good thing) or develops nevi (plural for nevus) which are darkened patches on the skin. A child with this condition can be fully functioning with small amounts of skin issues on one side of the spectrum, or can be completely dependent of others for all care. And, of course, there is also everything in between. The other added complication can be a significant occurrence of seizures because of the brain abnormalities.
As this applies to my girls... First, the biggest thing to know is that the facial differences they both have are not tumors. It is solely tissue overgrowth or some weird sebaceous skin stuff. There is nothing growing, and their condition as far as this goes is static. Second, no, it doesn't hurt. Their faces feel as normal to them as ours do to us. Third, yes, they are both significantly impacted by learning difficulties due to those brain differences. But honestly, I absolutely cannot tell you where the syndrome stops and the trauma begins. Probably no one can. I am absolutely convinced that they are both significantly more affected by their past trauma than by any part of their diagnosed syndrome.
The other question I am often asked is about treatment, as in, what can be done for their faces. You know, in reality, when you live with someone with a facial difference, it really doesn't take too long before you don't see it anymore. Really. It becomes a part of who they are, and you don't think about it. But we also know this is not true of navigating the wider world. When H. first came home, her one abiding wish was to see a doctor so they could fix her face. She had already had numerous surgeries in China, but she was willing to undergo more. She has had six surgeries since she has been home with us. The first was pretty significant in that it involved a lot of tissue removal and bone reduction. If you are interested, here are some past blog posts I dug up about it.
Before and After, Plus a Story Writing Idea (this contains a picture of H. before any surgery had been done, anywhere).
The Desire to Look Like Everyone Else
One Month Post-Op
Two Months Post-Op
As hard as that surgery was, I had no idea what the next five would be like. As well as over grown tissue, H. had some a significant nevus on her forehead. She didn't like it, and wanted it gone. Our plastic surgeon specializes in tissue expansion for removing things such as this. It is a grueling process.
The Low Down on Tissue Expansion
The short version is that it is a process involving putting essentially balloons under good skin, gradually filling them with saline over the course of weeks, so that as they expand, the skin over them stretches. When the new skin has stretched enough, the surgeon goes back in, removes the bad or damaged skin, and stretches the new skin over. It is just about as much fun as it sounds. Thus my anti-bucket list item of sticking a needle into my daughter's head and injecting saline. These are things that are probably better not known about when you sign up to be a parent. Here are a few old posts about it.
A Brief Surgery Update
The Good News and the Bad News
So where are we right now? Well, H. does not want any more surgery. When we were at the plastic surgeon's last, this is what she told him, and he was fine with it. He has quite a few more things he could do, but agrees with me, that by the age of 15, she needs to be the one to make those decisions. Neither of us has to go through it. This is what we've talked about, she and I. Every so often she will mention something face-wise that doesn't make her happy. I will remind her that the doctor offered some choices about what he could do, but it would involve surgery. She then says that she will think about it.
R. came to us with quite a few surgeries under her belt and some pretty significant medical anxiety. Her face is not as involved as H.'s and no one, me or the doctors feel that we need to do anything at the moment. Even in our brief meeting with the plastic surgeon a few months back, he could tell she was practically hanging from the ceiling by her fingernails. There's just no need to put her through further surgeries at this point. Perhaps if we ever reach a point where she has a more... um, let's say... developed sense of self, she may feel differently.
So there you have it. The low down on my rare girls. We are blessed to be their parents.