Not the Spinecor thread (update on Marfan testing)

[Pooka1]

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?

[emarismom]

Pooka,

Well at least you sort of **know** that they don't have Marfan's, even though you still have to keep on having tests run just to make sure. I hope that I got that right

It must be reassuring that none of your girls have the worst of the Marfan's symptoms, ie eye, heart, or retardation issues. I'm sure there are many, many people walking around with skeletal similarities, that do not have the disorder. It seems that you are probably in the clear, with the doctor is just wanting to follow up, for exactly the reason you said-CYA.

As far as the doctor detecting some dementia in you, your in good company-
ALL of Emily's doctor's think I'm whacked

[Pooka1]

Pooka,

Well at least you sort of **know** that they don't have Marfan's, even though you still have to keep on having tests run just to make sure. I hope that I got that right

Yes I think that's right.

It must be reassuring that none of your girls have the worst of the Marfan's symptoms, ie eye, heart, or retardation issues.

Ah I was unclear. The retardation goes with homocystinuria, NOT Marfan's. There is no decreased mental capacity associated with Marfan's in the patient but there might be in the patient's parents.

We'll know in a week for sure one way or the other on the homocystinuria. As for Marfan's as I understand it, you could get to eighty-freaking-eight and only THEN develop the aorta issues. Hence the directive to continue the heart/aorta monitoring for life unless some other issue like lens dislocation happens in which case the diagnosis will likely be made along with a confirmatory gene test. Or unless a dispositive gene test comes along ruling Marfan's in or out. No island of sanity on this.

I'm sure there are many, many people walking around with skeletal similarities, that do not have the disorder. It seems that you are probably in the clear, with the doctor is just wanting to follow up, for exactly the reason you said-CYA.

As far as the doctor detecting some dementia in you, your in good company-
ALL of Emily's doctor's think I'm whacked

You wear it with distinction!

[jillw]

Sharon, thanks for the update (and you made me chuckle). Boy, there are no easy/definitive answers, are there? Well, I'm glad the news is good so far and that you have a game plan.

[WNCmom]

Sharon--

Thanks for the update, and the new thread. That's a lot of information to digest. I guess for now, until we get through surgery, I'm going to put that info on the back burner....my husband is tall, very slender, and has mild scoliosis (as does his father, who is healthy at 83--there is no family history of marfanoid eye or heart issues) so I have to hope Sidney has inherited those characteristics and that's all there is. It's good to know to keep an eye on those things, though.

[Pooka1]

Thanks, jillw.

While my primary goal with this thread is to pass on information that might be of use to others similarly situated, another goal is to move away from the Spinecor thread which is a phenomenon unto itself. A runaway train if you will. It is clogged with every which topic and seemingly knows no bounds. A rogue thread if ever there was one. If other folks try to start a new thread for other issues or every new Spincor issue, I think the Spincor thread can eventually be roped and caged. I have hope.

sharon

[Pooka1]

Mary Ellen,

Yes I was a bit blown away by it all, especially the blood testing for homocystinuria. Although I did encounter that as a differential diagnosis, there are plenty of other differential diagnoses on the table with my girls' presentation so I'm wondering a bit why the geneticist clued in on that one only.

At least we'll know in a week on that, unlike the Marfan situation where we might have to wait until my daughters are eighty-freaking-eight.

sharon

[Pooka1]

One other thing in re treating Marfan's... a new class of drugs (ace inhibitors) are now being used to not only avoid the aorta issues but to actually lessen the damage without surgery. I think they have been around for a while but the application to Marfan's patients is new if I understood the geneticist (and I'm not sure I did!).

So maybe in the future aorta involvement in Marfan's won't require surgery.

I thought that was pretty interesting.

[mariaf]

Wow, Sharon - that's very interesting stuff! I think Emarismom said it best when she said they are probably doing a little "CYA". It almost sounds as though they want everyone who is tall and thin and has that "body type", which covers a LOT of folks, to be tested until they are in a nursing home!

Of course, it's always better safe than sorry, and I realize that nowadays nobody wants to "guarantee' anything, but it sounds to me like your girls will be fine :-)))

[Pooka1]

I hope you are right, Maria.

There was so much information I wish I had taken notes. I did the best I could to remember what she said while coming up with cogent questions.

[HaleyMom]

Hi Sharon
Thanks for passing on all the interesting info.

Did the geneticist give you any recomendations to go along with the hypermobility syndrome diagnosis?
If this syndrome is the underlying cause of their scoliosis, would intensive physical therapy to strengthen core muscles help in preventing W. from progressing? Were you given any advice on protecting their joints as they age?

Were they planning to test for any other connective tissue disorders such as Ehlers-Danlos syndrome?

[Pooka1]

I'm out of pocket... writing this from the road

Hi Sharon
Thanks for passing on all the interesting info.

Did the geneticist give you any recomendations to go along with the hypermobility syndrome diagnosis?

Nope.

If this syndrome is the underlying cause of their scoliosis, would intensive physical therapy to strengthen core muscles help in preventing W. from progressing? Were you given any advice on protecting their joints as they age?

I assume it is the underlying cause and she did not suggest PT. I told her my girls had Osgood -Schlatter which is loose ligaments that result in laying down bone below the knee cap which I thought for sure would be related to hypermobility syndrome but NO! There is no correlation. Almost unbelievable.

Were they planning to test for any other connective tissue disorders such as Ehlers-Danlos syndrome?

No other connective dissue disorder was mentioned. I have investigated ED and CMT and ruled them out based on signs and symptoms and no doctor has ever brought them up. I did bring up CMT with the surgeon's young ward when I thought he was doing an examination for that but he said he was not looking for that.

The geneticist never mentioned anything except the homocystinuria as something to r/o.

[txmarinemom]

... I told her my girls had Osgood -Schlatter which is loose ligaments that result in laying down bone below the knee cap which I thought for sure would be related to hypermobility syndrome but NO! There is no correlation. Almost unbelievable.

I can actually believe that. I had Osgood-Schlatters (as do most softball/baseball players that start catching at a young age), and it's most common cause is repetitive overuse of the quadriceps - and subsequent hemorrhage, then calcification - as it pulls at the patellar tendon attachment point.

The only real connection I know of for O-S is Severs Epiphisitis (around the growth plate in the heel - MUCH shorter in duration than O-S) and more rarely, a hip issue - Ischial Apophysitis. (say *that* five times fast!).

Kids that experience Severs are believed to be much more likely to develop O-S, but not always. I had O-S, and no Severs. My son had Severs, and never developed O-S.

I'm glad you got some "sort of answers" on your girls, and that's great news there is no evidence of aorta issues. I did kind of have to chuckle at the "you could develop them at 88!" ... who'd know it wasn't just because a person's 88??

Anyway, here's to NO emerging issues ... ever!

Regards,
Pam

[MJB]

I'm glad to hear that it doesn't seem that they have it...

[Pooka1]

Still not Spinecor... homocystinuria update

I can actually believe that. I had Osgood-Schlatters (as do most softball/baseball players that start catching at a young age), and it's most common cause is repetitive overuse of the quadriceps - and subsequent hemorrhage, then calcification - as it pulls at the patellar tendon attachment point.

In my daughters' cases, there was no repetitive injury, no sports (other than riding) at the time. It was just the way there were.

I got some results back on the blood tests, the concentration of the amino acid, homocystine (homocysteine? both?), is below the normal range. Had it been higher, they would have diagnosed homocystinuria which is a metabolic syndrome requiring some attention to diet. The geneticist was just being careful. They don't have some seemingly key findings so I would have bet that concentration would be not high. And indeed it was not.

Depending on the concentrations of the other amino acids (results due next week), if they are all low, apparently my kids need to eat more. They are slim but not too thin and eat what seems like enough food so we'll see. Their BMIs are okay.

And I'm going to question the hypermobility diagnosis a little with the geneticist. As I mentioned, they couldn't do some key movements but she still gave them that diagnosis.

Moreover, I finally get online and investigate it a bit and they don't seem to have very many of the signs/symptoms at all for hypermobility syndrome. For example, the first indicator I saw listed is being able to put your palms flat on the ground with straight legs close together. They can't come near to even touching their toes much less lay their palms flat on the ground!

I have always been able to lay my palms (entire hands) flat on the ground although I can't do any of the other indicator movements as far as I know. Go figure.

I think I have some random signs and symptoms of Marfan's (but not the tall/thin part DAMMIT!), hypermobility, homocystinuria (and probably about 25 other conditions!) without having any of those conditions and my kids have inherited some of those from me and just came by the others randomly or from my husband's family.

At the time, I asked why she didn't diagnose them with Marfan's habitus (quacks like a duck but isn't a duck) and she responded that she didn't think it had a diagnostic code. So I'm thinking that if it had a code (which I thought it did), she would have gone with that over Hypermobility syndrome which I don't think they have based on my readings to date.

We are caught in a diagnostic whirlwind and can't escape!