Helicases
My friend called with a patent question. U.S. Patent No. 6-million somethingorother, entitled "finger gloves." It took me ten minutes to figure out that my friend was trying to locate and purchase some of the patented product.
"Have you tried a sex shop?" I asked in completely even tones. I pulled up the Good Vibrations site as I talked. In two seconds, I saw what I'd been looking for.
"They're called finger cots," I told her. Two more clicks and I told her where else to find them.
She was flabbergasted. She couldn't believe I'd suggested a sex shop. Couldn't believe I'd said anything of the sort to her. I laughed. It's been a while since I've had her totally nonplussed and completely shocked. Nice to know I can still do it sometimes.
My friend is probably one of the best disability rights activists in the country. She's worked with advocates both famous and not-so-famous, as well as state and federal disability rights organizations all over the place. For the last 3 years, she's been my sparring partner on these issues, as my outlook is somewhat different than hers, even though we agree on the essentials. She's brilliant, and more tenacious than I could ever hope to be. She's got an MSW, and in addition to the disability rights work, she did crisis intervention and domestic violence work. When I took a punch from my then-girlfriend a couple of years back, she was one of the few people who was actually able to help. Somehow, we've never met in person.
My friend is about four foot three and 44 pounds. She has Bloom's Syndrome, one of the rarest genetic conditions known. It's seen mostly in Ashkenazi Jews, and results in short stature, facial rash, sensitivity to light, sensitivity to temperature, lack of body fat, neurosensory issues, and most of all, cancer. Lots and lots of cancer. Essentially, one of the helicases used to unwind DNA is mutated. The genome becomes unstable, in a process that's similar to the effects of aging.
A few weeks ago, she had a single mastectomy to deal with breast cancer. She previously had a bout of colon cancer. Now she's thinking that she should have had the other breast removed because there's some distant evidence of cancer there too. (I will kill the first person to quote the Princess Bride here.)
Let me stop for a moment to explain what the medical process is like for her, or at least what I understand of it. First, there are only a handful of geneticists who truly understand Bloom's, and few to no practicing physicians. There are only a handful of Bloom's patients in the country, and maybe 200 in the world. I don't know the numbers right now.
First, pediatric everything is necessary, and it seems that the doctors are unprepared for that. However, even when pediatric devices are available, they still don't work. For example, my friend had her throat horribly irritated the last time she had surgery because the endotracheal tube was the right diameter for her, but the wrong length, so the end of the tube with the inflatable cuff was apparently sitting right on her vocal chords.
Last time, she woke up in agonizing pain, at least in part because the temperature in the room was too low. Her nerves do strange things. Living with short stature in a tall world causes her to sit poorly, wrenching her back and causing pain and postural problems. She can't take most drugs because they give her violent reactions. Tylenol is one of the few drugs she can take, but she almost totaled her liver because the doctors had her on a Tylenol dose that was, for her, an overdose. She got withdrawal symptoms--horrible headaches--when she went off the Tylenol.
Let's not even think about anaesthesia. They got that wrong a few times, too. See, it's not just her body mass that's low; the sizes of the physiological "compartments" in the model that we use to calculate the effects of the drugs are not the usual.
Even the course of diseases is not usual. Finally, after decades, her doctors thought that some of her pain and otherwise inexplicable headaches might be caused by celiac, and they're testing her for it.
Oh, and you try being mistaken for a drug-seeking anorexic a few times by doctors who actually have no idea how to treat you and see whether or not you trust the medical profession as a whole after that.
We started talking about all of the issues -- quality of life, disease management, etc. The advice I started giving her shocked me. You see, my friend will likely die by her mid-forties, likely by some form of cancer. Moreover, chemo has been known to kill Bloom's patients. Radiation has been known to kill Bloom's patients. Against that backdrop, what's treatment, and what's simply barbaric mutilation that destroys quality of life and fails to offer any real benefit?
I don't want my friend to die, but I very much DO want her to LIVE. She's done so much good for so many people, and she can perhaps do more good for more people yet. Her life should not end with a downward spiral of iatrogenic pain and dysfunction.
In thinking about all of this, I had to escape into my head for a little while, so I started reading about the RecQ3 helicase and the BLM gene that encodes it. I thought about another friend's work with Drosophila and looked up whether there have been attempts to explore the disease in Drosophila (there have been). I wished that I had a PhD and an opportunity to take a crack at some of this. I wished that there was a REAL Dr. House who could diagnose and treat at least a few of the secondary issues that make her life miserable.
She was looking for those finger cots because she's got lymphedema and is worried about infections.
I don't want my friend to die, but I very much DO want her to LIVE.
"Have you tried a sex shop?" I asked in completely even tones. I pulled up the Good Vibrations site as I talked. In two seconds, I saw what I'd been looking for.
"They're called finger cots," I told her. Two more clicks and I told her where else to find them.
She was flabbergasted. She couldn't believe I'd suggested a sex shop. Couldn't believe I'd said anything of the sort to her. I laughed. It's been a while since I've had her totally nonplussed and completely shocked. Nice to know I can still do it sometimes.
My friend is probably one of the best disability rights activists in the country. She's worked with advocates both famous and not-so-famous, as well as state and federal disability rights organizations all over the place. For the last 3 years, she's been my sparring partner on these issues, as my outlook is somewhat different than hers, even though we agree on the essentials. She's brilliant, and more tenacious than I could ever hope to be. She's got an MSW, and in addition to the disability rights work, she did crisis intervention and domestic violence work. When I took a punch from my then-girlfriend a couple of years back, she was one of the few people who was actually able to help. Somehow, we've never met in person.
My friend is about four foot three and 44 pounds. She has Bloom's Syndrome, one of the rarest genetic conditions known. It's seen mostly in Ashkenazi Jews, and results in short stature, facial rash, sensitivity to light, sensitivity to temperature, lack of body fat, neurosensory issues, and most of all, cancer. Lots and lots of cancer. Essentially, one of the helicases used to unwind DNA is mutated. The genome becomes unstable, in a process that's similar to the effects of aging.
A few weeks ago, she had a single mastectomy to deal with breast cancer. She previously had a bout of colon cancer. Now she's thinking that she should have had the other breast removed because there's some distant evidence of cancer there too. (I will kill the first person to quote the Princess Bride here.)
Let me stop for a moment to explain what the medical process is like for her, or at least what I understand of it. First, there are only a handful of geneticists who truly understand Bloom's, and few to no practicing physicians. There are only a handful of Bloom's patients in the country, and maybe 200 in the world. I don't know the numbers right now.
First, pediatric everything is necessary, and it seems that the doctors are unprepared for that. However, even when pediatric devices are available, they still don't work. For example, my friend had her throat horribly irritated the last time she had surgery because the endotracheal tube was the right diameter for her, but the wrong length, so the end of the tube with the inflatable cuff was apparently sitting right on her vocal chords.
Last time, she woke up in agonizing pain, at least in part because the temperature in the room was too low. Her nerves do strange things. Living with short stature in a tall world causes her to sit poorly, wrenching her back and causing pain and postural problems. She can't take most drugs because they give her violent reactions. Tylenol is one of the few drugs she can take, but she almost totaled her liver because the doctors had her on a Tylenol dose that was, for her, an overdose. She got withdrawal symptoms--horrible headaches--when she went off the Tylenol.
Let's not even think about anaesthesia. They got that wrong a few times, too. See, it's not just her body mass that's low; the sizes of the physiological "compartments" in the model that we use to calculate the effects of the drugs are not the usual.
Even the course of diseases is not usual. Finally, after decades, her doctors thought that some of her pain and otherwise inexplicable headaches might be caused by celiac, and they're testing her for it.
Oh, and you try being mistaken for a drug-seeking anorexic a few times by doctors who actually have no idea how to treat you and see whether or not you trust the medical profession as a whole after that.
We started talking about all of the issues -- quality of life, disease management, etc. The advice I started giving her shocked me. You see, my friend will likely die by her mid-forties, likely by some form of cancer. Moreover, chemo has been known to kill Bloom's patients. Radiation has been known to kill Bloom's patients. Against that backdrop, what's treatment, and what's simply barbaric mutilation that destroys quality of life and fails to offer any real benefit?
I don't want my friend to die, but I very much DO want her to LIVE. She's done so much good for so many people, and she can perhaps do more good for more people yet. Her life should not end with a downward spiral of iatrogenic pain and dysfunction.
In thinking about all of this, I had to escape into my head for a little while, so I started reading about the RecQ3 helicase and the BLM gene that encodes it. I thought about another friend's work with Drosophila and looked up whether there have been attempts to explore the disease in Drosophila (there have been). I wished that I had a PhD and an opportunity to take a crack at some of this. I wished that there was a REAL Dr. House who could diagnose and treat at least a few of the secondary issues that make her life miserable.
She was looking for those finger cots because she's got lymphedema and is worried about infections.
I don't want my friend to die, but I very much DO want her to LIVE.