Well we set a record for the longest doctor visit with the trip to the geneticist today. I knew it would be long but I didn't expect ~3 hours.
Lots of family history questions on top of the questionnaires I filled out and brought with me.
The bottom line is that they have several Marfanoid skeletal indicators (which I knew) but because they don't have any eye or heart/aorta issues, she did not recommend looking for either gene involved unless they develop some other non-skeletal issue. There is a false negative rate on the test so if we got it and it was negative, there is still some chance they could develop Marfan's. If the test was dispositive, I would have done it but it is not.
So no Marfan's diagnosis for now at least (which I already knew).
Because my girls have so many skeletal indicators, the geneticist recommended they get their hearts/aortas re-examined every two years until they are about 18 and then every 3-5 years for the foreseeable future because... get this... there is no upper end on the time window for developing Marfan's. That is to say, you could develop it at any time in your life if you have the gene(s). She was not aware of any correlation between later incidence of symptoms and severity of symptoms.
I'm hoping a dispositive gene test comes along in the future so we can do that and stop this heart/aorta testing. It's not bad.... 20 minutes of laying on a table for ultrasound imaging but if we don't have to do it, all the better.
She gave them a diagnosis of hypermobility syndrome although the girls could not do some of the indicator movements for that diagnosis. And because of their marfanoid habitus (i.e., tall, thin, etc.), she drew blood to rule out homocystinuria, a metabolic disease that is a differential diagnosis for Marfan's. But I think this is a CYA, cover your bases, thing because the joints tend to be tight in patients with homocystinuria and we just in the same visit got a diagnosis of hypermobility syndrome. Now I'm not a medical doctor but I'm guessing they don't have this. If they do, though, it is easily treated with supplemental vitamins and a certain amino acid and, if necessary, a low protein diet. No drugs-drugs needed.
Another reason I don't think my kids have it (ETA for clarity: meaning homocystinuria) is that a sign/symptom is increasing mental retardation. My kids get better in school every year, not worse.
Finally, the geneticist suggested I go for a heart imaging study in case I have homocystinuria. It causes heart problems in the out decades like where I'm in I guess. Or maybe she just detected some dementia in me and took it for mental retardation. Who can blame her if so?
Lots of family history questions on top of the questionnaires I filled out and brought with me.
The bottom line is that they have several Marfanoid skeletal indicators (which I knew) but because they don't have any eye or heart/aorta issues, she did not recommend looking for either gene involved unless they develop some other non-skeletal issue. There is a false negative rate on the test so if we got it and it was negative, there is still some chance they could develop Marfan's. If the test was dispositive, I would have done it but it is not.
So no Marfan's diagnosis for now at least (which I already knew).
Because my girls have so many skeletal indicators, the geneticist recommended they get their hearts/aortas re-examined every two years until they are about 18 and then every 3-5 years for the foreseeable future because... get this... there is no upper end on the time window for developing Marfan's. That is to say, you could develop it at any time in your life if you have the gene(s). She was not aware of any correlation between later incidence of symptoms and severity of symptoms.
I'm hoping a dispositive gene test comes along in the future so we can do that and stop this heart/aorta testing. It's not bad.... 20 minutes of laying on a table for ultrasound imaging but if we don't have to do it, all the better.
She gave them a diagnosis of hypermobility syndrome although the girls could not do some of the indicator movements for that diagnosis. And because of their marfanoid habitus (i.e., tall, thin, etc.), she drew blood to rule out homocystinuria, a metabolic disease that is a differential diagnosis for Marfan's. But I think this is a CYA, cover your bases, thing because the joints tend to be tight in patients with homocystinuria and we just in the same visit got a diagnosis of hypermobility syndrome. Now I'm not a medical doctor but I'm guessing they don't have this. If they do, though, it is easily treated with supplemental vitamins and a certain amino acid and, if necessary, a low protein diet. No drugs-drugs needed.
Another reason I don't think my kids have it (ETA for clarity: meaning homocystinuria) is that a sign/symptom is increasing mental retardation. My kids get better in school every year, not worse.
Finally, the geneticist suggested I go for a heart imaging study in case I have homocystinuria. It causes heart problems in the out decades like where I'm in I guess. Or maybe she just detected some dementia in me and took it for mental retardation. Who can blame her if so?
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