Agraphia Medical Tragicomedy

12Apr/06Off

Neurofibromatosis

We had a man come in who had Neurofibromatosis today. There is something particularly nasty about NF: it's Autosomal Dominant, which means that if you have it, you have a 50% chance of passing it on to your children. This is different from Autosomal Recessive traits, which cannot be passed on unless both the mother and father are carriers.

It's always great to be able to put a face to a disease. It really drives the point home that these aren't just symptoms on a page- they happen to real people. He broke down several times over the course of his talk, about the way that he's been treated due to his grotesque appearance, and how hard it has been to adjust, and so on. How he can't let it get to him. How it's such a hard life.

I really lost it though, when he mentioned that he's got 4 kids. 2 of them have the disease. 50%.

I know I shouldn't be judging, and I'm sure that later on in my life/career/whatever I'll look back on this entry and say "wow. I never should have said those things". I gotta be honest, though. This disease is NASTY. The gross skin bumps are the least of your problems.
They develop benign tumors on their optic nerves, making them blind.
They get tumors on their acoustic nerves, making them deaf.
They get them along peripheral nerves, giving them excruciating pain.
They get them in the brain, making them mentally retarded.
They get them in bones, forcing them to amputate their limbs in extreme cases.

In my defense, I felt awful for him. He got it through a random mutation, so neither parent could have ever seen it coming. He really poured out his heart to us and I fully respect that. But what I will say is that I started to get angrier and angrier when he started to talk about how hard it was having kids with the disease. He's working 2 part-time jobs, which means he doesn't really have the money to pay for the kind of medical care these kids should really be getting. He knows how much hell he's been put through in his life. And yet, he chose the same life for his children.

Anyhow. I apologize to myself, and to my future patients - and most of all, to him - for writing this entry. I feel guilty. Coming in and talking to a class of 110 medical students cannot be easy, especially when you are baring your soul, your life, and your choices for all to see. But I just can't help but be upset that his daughter is mentally retarded, with NF and the need for multiple surgeries in the future. And it is all his fault.

He said several times that there has never been a problem with his children having NF. There has been no tension between the "normal" 2 children and the NF ones. Know what? I don't believe him. Deep down inside, do you really think that he doesn't feel guilty for what he did to those 2 kids? And don't you think, occasionally, that it flits across their minds to be upset at their father for knowingly passing along this disease?

I don't know the answers. I just know that I'm frustrated. And I know the medical party line says I shouldn't be, that I should be impassive and support my patients in whatever they choose to do. Maybe I'll learn. But for now I can't help but feel unsettled.

EDIT: As can be seen from the comments, I seem to have misrepresented a few facts. His daughter is slightly challenged, not mentally retarded. He's never had any major problems with his NF except for the bumps. And, he also works 3 jobs to take care of his family. My apologies, dear readers.

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  1. So, I just have to say a few things about this entry that really didn’t sit well with me, not because of your frustration because you are allowed to feel the way you feel, but with your gross exaggerations about what this guy and his family are going through. One, he is 40 years old and has never had anymore problems than the “bumps” on his skin, and his kids get checked all the time. Two, his daughter is NOT mentally retarded, she has learning disabilities which she has worked hard to overcome, big difference there. And finally, three, I’m sure he does feel guilty for the condition he gave to his kids, but I think it says a lot that he has worked hard to bring them up in the most positive environment possible. (And by the way, he has 1 full-time job and 2 part-time jobs) Love ya.

  2. Thanks, Angela, for the corrections to Zac’s recall of class. I find it hard to call a girl who’s on the honor roll at her school mentally retarded. And he only has three kids, not four. I love you, too, Zac.

  3. Yikes… I guess I stand corrected! An independant source confirms that he says 4 kids though :-)

    I’m still bothered though. I guess it just seems irresponsible. I went up and talked to him afterwards – he seemed like a really great guy – but I think maybe its just more the idea that he knew full well what he was getting his kids into and did it anyways. I mean, great for him that he’s careful to bring them up in a caring and loving manner but… it still bothers me.

    Check this link out. I read a lot of it before I posted so maybe it colored my feelings a bit. There are a lot of bitter people on that messageboard that didn’t do things quite as well as our guest seems to have.

  4. HE SAID THREE! BUT THEN!!!! He said 2 NORMAL 2 WITH NF. So 3 OR 4!


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