How do you explain your child’s rare medical condition?

Advice for Parents with Special Needs Babies

It’s hard knowing whether or not to tell people that my daughter has some problems. It’s made even harder, I think, by the fact that it is very rare. On one hand, my husband says it’s no one’s business – which I agree with. But on the other hand, this is part of who she is, and people can’t possibly understand us, or relate to our lives in any meaningful way, without knowing this information.

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Even just explaining that there is something going on is complicated, made more complex because she has such a rare condition. Do I tell people she is disabled? Do I say she is delayed? Do I say she has a rare condition? Do I say nothing at all? Sometimes it feels like when I meet new people, I can’t help but tell them my daughter has some issues. To me, she is the most important thing in the world, and helping her develop as much as she can is the central goal and mission of my life. So how can I not talk about it?

My husband struggled with this a lot, and continues to. He doesn’t like people knowing she is different. He struggles with it enough that I use fake names on this site, so as to protect all of our privacy, but especially my daughter’s. I had a hard time with this at first. It made me feel like he was ashamed of her, like he didn’t want people to know that his child wasn’t made according to the same mold as “typical” children. He explained to me that he doesn’t want anyone to know because its no one’s business but ours, and he doesn’t want anyone to judge her or dismiss her.

People don’t know how to react when you tell them your child is different. Our daughter’s condition, an abnormality on chromosome 8, is very rare – rare enough it doesn’t have a name and there is very little information available about it. The information that is available is unequivocally terrifying, so I have decided to try to avoid and ignore most of it. She also has agenesis of the corpus callosum, larangyl tracheal malasia and hypoplasia of the left cerebellum, among other things. Much more is available on these issues, but only in relation to the rareness of her primary condition. It can be difficult when you’re trying to explain a very rare condition or one that has not been well studied. On the one hand, when a parent explains that their child has autism or Down Syndrome, they have to fight all the assumptions and misconceptions that come from people thinking they know what that means. When a parent tells someone their child has a condition that is recognized enough to have a name, then they may be able to explain the specific risks and problems that go with that condition. When I tell someone my child has a chromosomal abnormality and they ask what they means, well, I can’t really tell them because her doctors don’t know what it means either.

The geneticist who gave us her results referred us to an online brochure with terribly outdated information. It has genetics information from 2006, as though there has been no advance in genetics since then! The information that includes anecdotal evidence from other parents, is pretty much all bad, and it absolutely terrified me. Eventually it occurred to me that in 2006, the only children who would have gotten genetic testing would have been children with very severe disabilities who were enrolled in research studies. That means the people who were diagnosed were probably more likely to be those with the most extreme effects. It would not include those who did not have such severe effects, if those exist, because those people wouldn’t have qualified for the (then) prohibitively expensive testing. That thought made me feel a lot more hopeful and helped me as I try to learn not to compare my daughter to anyone else.

Although it makes me feel better, it doesn’t make it any easier telling other people. I spoke with an old friend on the phone recently, and the point came where I had to explain that my daughter is developmentally delayed. This friend, who is very sweet and would never hurt my feelings on purpose asked, “What did you do?”

I felt like an arrow had been shot straight through me. I was shocked, and didn’t know whether to react with anger, with hurt, or try to understand where she was coming from. I was speechless for a few seconds. Finally, I answered in an even tone, “I didn’t do anything. It just happened. We couldn’t have changed anything.” I managed to answer in a calm tone because I know she didn’t mean it that way. I think she was so surprised that she tried to use a joking tone to soften the discomfort of the conversation. We have always joked around a lot and been very honest in our joking, so I know she didn’t intend to hurt me. But she did.

“But it’s just temporary, right?” she asked me.

“No,” I said, “It’s lifelong. We don’t really know how it will affect her. Probably the best we can hope for is that she will be a little slow. The worst possibility is, well, I don’t want to talk about that.”

The unknown that comes with rare conditions can be both a blessing and a curse. They are a curse because they are terrifying. There is no manual for dealing with rare conditions – you’re just figuring things out as you go. You don’t meet other families whose child has the same thing. There are no support groups for the diagnosis. You have to spell the name of the condition to every medical assistant you meet and you find yourself explaining it to doctors. There is no protocol for the right therapies or the right doctors to see. You find yourself shuffling through the office of a variety of specialists for every body part that seems to have an issue. Some of these docs don’t really know how to help other than to subject your child to endless tests and tell you, “We’ll have to keep an eye on that.”

But I think there can be a flip side to rare conditions when not much is known about them. For me, the flip side is hope. Since no one can definitively tell me what my daughter will or won’t do, I’ve decided to just keep hoping. With some conditions, the prognosis is so grim that even if a child bucks the odds and exceeds expectations, it must be a terrible burden on parents to be fighting the doom-filled messages of some doctors and therapists. But with my daughter, the docs just don’t know.

I remember one moment that made a big different for me. When my daughter was about two months old, a geneticist was examining her in her ICU crib. He would look here and study there and make notes on a paper. Finally, he came over to talk to my husband and I. He told us here ears were placed a little too low and slighted tilted. Her earlobes have a slight bend in them. She has an itty bitty birthmark on her tummy, but he didn’t think that mean anything. Finally he got to his big news. Her toes were “mildly webbed.” What that meant was that the skin between a couple of her toes came up very slightly above where it should. He pointed out what he meant on her toes. It wouldn’t affect her, but it was probably indicative of her condition.

As he said this, I looked down at my own feet in flip flops and then nudged the doc and pointed at my feet. Her toes are identical to mine.

“Oh,” he said. “Well, in that case it’s just an inherited trait.”

I have never been more thankful for my odd toes, apparently strange enough even to give a geneticist pause! They taught me to not believe everything doctors say. This man had been examining her, looking for abnormalities, and he found what he was looking for. But if he examined any person, it’s quite possible he’d find abnormalities in anyone else. (In case you’re wondering, I’ve been tested, and I do not share the abnormality she has.) I read recently that geneticists have found about 1.4 million places in the human genome where there are single base differences. That means there is a phenomenal amount of diversity among humans. There really isn’t any one definition of “normal” when it comes to the human genome – there are at least 1.4 million versions that have been discovered so far. So sure, my daughter is different – we all are. So there’s the hopeful version, makes sometimes makes it all more palatable, but of course, its not always that comforting when you’re driving to therapy or waiting in a doctor’s office.

I remember when I originally told my mom that my daughter had a rare medical condition. I was in a hospital ICU room, red-eyed from crying, un-showered, foggy-brained, trying to remember my college biology classes and what the geneticist said. I tried to explain to my mom the intricacies of a chromosomes and genes and how they are supposed to copy, and how my baby’s didn’t copy the way they should have. On one of her chromosomes, my daughter is missing less than a hundred genes and there are a few hundred genes of which she has double the number she should. So far as I understand, most humans have about 21,000 genes, so out of that many, a few missing and a few extra shouldn’t’ be a big deal, right? But the problem is, scientists don’t know what a lot of those genes do, which brings us back to not knowing how it effects people who have an abnormality. Mom looked confused. I felt confused. I felt like I wasn’t doing a good job explaining, so I pulled out the chart of chromosomes the doctor has given me.

“See,” I said pointing at number eight, “this one is too long. It should be shorter. That’s how they know there’s something wrong.”

Mom, shell-shocked like me asked, “But what does it mean for her?”

That’s the question without an answer.

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