Re: lucas' geneticist appt

[Guest guest]

Hi Deshea, Moriah has kyphoscoliosis and a congenital heart defect that is repaired. I guess I will go check over her notes and see if the aorta is enlarged or thin walled. No one has ever checked her for a connective tissue disorder. She can hyperextend her elbow and lock her knees, but otherwise I see no other symptoms. Do you have some info on the kyphoscoli form or a link where I can read up on it? I'm always curious to know. I think is digging around on this as well. Is the urine test any lab can run, or do you have to have the results read by a geneticist. They will do a regular urine lab before her next VEPTR. I'd love it if they could read her for the kyphoscoli EDS. Shellie"Deshea L. " <deshea@...> wrote: we went to

children's hospital in boston today for lucas' first evaluation with a geneticist. of course we spent half the day there as is typical, but dr. lyon was extremely nice and answered all of our questions. she does think that lucas has ehlers-danlos syndrome (a connective tissue disorder) and specifically the kypho-scoliosis form. there is a urine test to check this diagnosis, but it has a high false negative result. she thinks that in a number of years they will have a better test available and if we really want to (although her clinical finding suggest eds/kyphoscoliosis) we can get him tested then. at this point it would not change what we are doing. her recommendation is to get an echocardiogram to look at the heart and especially the aorta to make sure that it is not enlarged or thin walled -- although this type of eds (versus

the vascular type) usually does not have any cardiology problems, but it is something that is good to follow up. in addition, she does recommend an eye exam, but we had already had him seen by a pediatric ophthalmologist twice for the possibility of a lazy eye which was a false alarm. she recommended yearly eye exams to make sure nothing changes.unfortunately, due to the position of lucas' cast, she doesn't think they can get a good echo. we'll have to plan to have it in erie or get it cut off here, echo here, then go to erie to get a new cast. i'll have to contact heather johnson and see if it is feasible to have it done in erie.also as we were talking, she mentioned that she really does think that all infantile scoliosis cases probably do have a component that is a result of a connective tissue abnormality -- i've always

hated the idiopathic designation of this scoliosis. now that would be an interesting study, but of course, it seems like not enough orthos refer our kids to geneticists!so that's it in a nutshell.desheap.s. she did mention that dr. peter byers at u wash in seattle is the head honcho regarding connective tissue disorders. i'm about to look him up!

DSL Something to write home about. Just $16.99/mo. or less

[Guest guest]

Hi Deshea, I read your account of the geneticist visit with great interest as it mirrored mine and Bidget's consult closely Except that our geneticist looked at all 4 of our children and my husband and me as well. he showed me symptoms/ characteristics in my husband and Cormac and Bridget. This was scary at first though I was able to tell my older 2 kids that dad had obviously had it all his life with no real dramas. He can do some great stretchy party tricks too. We did add in an extra swimming training day a week for each of them as the geneticist said that they would be less prone to dislocations if they had good muscle tone. He said non contact sports would be preferable but fitness and activity is really important. 3 of our 4 children are scheduled for an echo to look for enlarged aorta but we can't get in

until March so we'll have to wait there. It's interesting and comforting to know that you received pretty much the same message. I suppose now we need to know how that effects the scoliosis treatment if at all. I would be interested to share anything you can find out. Thanks and happy 2006 Bert and Bridget"Deshea L. " <deshea@...> wrote: we went to children's hospital in boston today for lucas' first evaluation with a geneticist. of course we spent half the day there as is typical, but dr. lyon was extremely nice and answered all of our questions. she does think that lucas has ehlers-danlos syndrome (a connective tissue disorder) and specifically the

kypho-scoliosis form. there is a urine test to check this diagnosis, but it has a high false negative result. she thinks that in a number of years they will have a better test available and if we really want to (although her clinical finding suggest eds/kyphoscoliosis) we can get him tested then. at this point it would not change what we are doing. her recommendation is to get an echocardiogram to look at the heart and especially the aorta to make sure that it is not enlarged or thin walled -- although this type of eds (versus the vascular type) usually does not have any cardiology problems, but it is something that is good to follow up. in addition, she does recommend an eye exam, but we had already had him seen by a pediatric ophthalmologist twice for the possibility of a lazy eye which was a false alarm. she

recommended yearly eye exams to make sure nothing changes.unfortunately, due to the position of lucas' cast, she doesn't think they can get a good echo. we'll have to plan to have it in erie or get it cut off here, echo here, then go to erie to get a new cast. i'll have to contact heather johnson and see if it is feasible to have it done in erie.also as we were talking, she mentioned that she really does think that all infantile scoliosis cases probably do have a component that is a result of a connective tissue abnormality -- i've always hated the idiopathic designation of this scoliosis. now that would be an interesting study, but of course, it seems like not enough orthos refer our kids to geneticists!so that's it in a nutshell.desheap.s. she did mention that dr. peter byers at u wash in seattle is the head honcho

regarding connective tissue disorders. i'm about to look him up!

DSL Something to write home about. Just $16.99/mo. or less

[Guest guest]

Thanks for the update Deshea. Sorry to hear about the Kyphoscoliosis, but am glad that it isn't usually associated with heart problems. I will keep my fingers crossed that the echo comes back negative.

I agree that the orthos need to start recommending testing for CTD whenever they see a patient with infantile scoli.

If you don't mind, I would like to print this post to take with me to Ian's appt with the geneticist.

Noelle (12-2-01)Ian (8-15-04)

lucas' geneticist appt

we went to children's hospital in boston today for lucas' first evaluation with a geneticist. of course we spent half the day there as is typical, but dr. lyon was extremely nice and answered all of our questions. she does think that lucas has ehlers-danlos syndrome (a connective tissue disorder) and specifically the kypho-scoliosis form. there is a urine test to check this diagnosis, but it has a high false negative result. she thinks that in a number of years they will have a better test available and if we really want to (although her clinical finding suggest eds/kyphoscoliosis) we can get him tested then. at this point it would not change what we are doing. her recommendation is to get an echocardiogram to look at the heart and especially the aorta to make sure that it is not enlarged or thin walled -- although this type of eds (versus the vascular type) usually does not have any cardiology problems, but it is something that is good to follow up. in addition, she does recommend an eye exam, but we had already had him seen by a pediatric ophthalmologist twice for the possibility of a lazy eye which was a false alarm. she recommended yearly eye exams to make sure nothing changes.unfortunately, due to the position of lucas' cast, she doesn't think they can get a good echo. we'll have to plan to have it in erie or get it cut off here, echo here, then go to erie to get a new cast. i'll have to contact heather johnson and see if it is feasible to have it done in erie.also as we were talking, she mentioned that she really does think that all infantile scoliosis cases probably do have a component that is a result of a connective tissue abnormality -- i've always hated the idiopathic designation of this scoliosis. now that would be an interesting study, but of course, it seems like not enough orthos refer our kids to geneticists!so that's it in a nutshell.desheap.s. she did mention that dr. peter byers at u wash in seattle is the head honcho regarding connective tissue disorders. i'm about to look him up!

[Guest guest]

Deshea, Sounds like you were told everything we were told. Did she also mention increasing vitamin C for Lucas? She did for both of my kids. Something about it helps strengthen the ligaments or makes the collagen stronger? She did say they may be able to get a good side angle of the aorta (with echo) in the cast but it was a guess on her part. Jake's appt is Jan.5. If they don't get what they need, I'll be contacting H. also to see if they can do it in Erie at next cast change. Glad the appt was here and gone. Know you were worried. Sending good thoughts, "Deshea L. " <deshea@...> wrote: we went to children's hospital in boston today for lucas' first

evaluation with a geneticist. of course we spent half the day there as is typical, but dr. lyon was extremely nice and answered all of our questions. she does think that lucas has ehlers-danlos syndrome (a connective tissue disorder) and specifically the kypho-scoliosis form. there is a urine test to check this diagnosis, but it has a high false negative result. she thinks that in a number of years they will have a better test available and if we really want to (although her clinical finding suggest eds/kyphoscoliosis) we can get him tested then. at this point it would not change what we are doing. her recommendation is to get an echocardiogram to look at the heart and especially the aorta to make sure that it is not enlarged or thin walled -- although this type of eds (versus the vascular type) usually does not have any cardiology problems, but it is something that is good to follow up. in addition, she does recommend an

eye exam, but we had already had him seen by a pediatric ophthalmologist twice for the possibility of a lazy eye which was a false alarm. she recommended yearly eye exams to make sure nothing changes.unfortunately, due to the position of lucas' cast, she doesn't think they can get a good echo. we'll have to plan to have it in erie or get it cut off here, echo here, then go to erie to get a new cast. i'll have to contact heather johnson and see if it is feasible to have it done in erie.also as we were talking, she mentioned that she really does think that all infantile scoliosis cases probably do have a component that is a result of a connective tissue abnormality -- i've always hated the idiopathic designation of this scoliosis. now that would be an interesting study, but of course, it seems like not enough orthos refer our kids to geneticists!so that's it in a nutshell.desheap.s. she did mention

that dr. peter byers at u wash in seattle is the head honcho regarding connective tissue disorders. i'm about to look him up!

[Guest guest]

Deshea,

Were you able to get any details on Dr. Byers?

just curious....I'm still looking into this connective tissue/EDS stuff.

HRH

lucas' geneticist appt

we went to children's hospital in boston today for lucas' first evaluation with a geneticist. of course we spent half the day there as is typical, but dr. lyon was extremely nice and answered all of our questions. she does think that lucas has ehlers-danlos syndrome (a connective tissue disorder) and specifically the kypho-scoliosis form. there is a urine test to check this diagnosis, but it has a high false negative result. she thinks that in a number of years they will have a better test available and if we really want to (although her clinical finding suggest eds/kyphoscoliosis) we can get him tested then. at this point it would not change what we are doing. her recommendation is to get an echocardiogram to look at the heart and especially the aorta to make sure that it is not enlarged or thin walled -- although this type of eds (versus the vascular type) usually does not have any cardiology problems, but it is something that is good to follow up. in addition, she does recommend an eye exam, but we had already had him seen by a pediatric ophthalmologist twice for the possibility of a lazy eye which was a false alarm. she recommended yearly eye exams to make sure nothing changes.unfortunately, due to the position of lucas' cast, she doesn't think they can get a good echo. we'll have to plan to have it in erie or get it cut off here, echo here, then go to erie to get a new cast. i'll have to contact heather johnson and see if it is feasible to have it done in erie.also as we were talking, she mentioned that she really does think that all infantile scoliosis cases probably do have a component that is a result of a connective tissue abnormality -- i've always hated the idiopathic designation of this scoliosis. now that would be an interesting study, but of course, it seems like not enough orthos refer our kids to geneticists!so that's it in a nutshell.desheap.s. she did mention that dr. peter byers at u wash in seattle is the head honcho regarding connective tissue disorders. i'm about to look him up!

[Guest guest]

hi heather,

i've been thinking of you and olivia and can only imagine

trying to plan on being away from home for so long! of

course, it is the best thing for olivia prior to the veptr so

i'm sending good vibes your way. will you be accessible by

e-mail and reading posts while in slc? i hope so! we want to

know how you both are doing . . .

unfortunately, most of the information that i can find on

byers is related to very complicated papers regarding finding

mutations in different collagen genes that lead to eds (he

seem particularly interested in type iv = vascular form and

the most dangerous), but of course, not type vi or

kyphoscoliosis type. he does seem to be on a lot respected

boards related to looking at eds as a whole. there are

definitely genetic tests/skin biopsies that can be done to

look at the classical, hypermobile, and vascular forms of eds,

but not the kyphoscoliosis form (it is still only in the

research phase).

my recollection fails me, but weren't both you and olivia

clinically diagnosed with ctd and possibly eds? did they tell

you what type? there really is not a lot out there with

regards to the kyphoscoliosis form. i've even gone to some of

the message boards on and ednf.org, but searching

through the posts, no one has this type is posting . . .=(

anyway, very long winded, but here is a link to byers websites:

http://www.gs.washington.edu/faculty/pbyers.htm

http://expertise.cos.com/cgi-bin/exp.cgi?id=307347

deshea

Deshea,

Were you able to get any details on Dr. Byers?

just curious....I'm still looking into this connective tissue/EDS stuff.

HRH

lucas' geneticist appt

we went to children's hospital in boston today for lucas' first evaluation with a geneticist. of course we spent half the day there as is typical, but dr. lyon was extremely nice and answered all of our questions. she does think that lucas has ehlers-danlos syndrome (a connective tissue disorder) and specifically the kypho-scoliosis form. there is a urine test to check this diagnosis, but it has a high false negative result. she thinks that in a number of years they will have a better test available and if we really want to (although her clinical finding suggest eds/kyphoscoliosis) we can get him tested then. at this point it would not change what we are doing. her recommendation is to get an echocardiogram to look at the heart and especially the aorta to make sure that it is not enlarged or thin walled -- although this type of eds (versus the vascular type) usually does not have any cardiology problems, but it is something that is good to follow up. in addition, she does recommend an eye exam, but we had already had him seen by a pediatric ophthalmologist twice for the possibility of a lazy eye which was a false alarm. she recommended yearly eye exams to make sure nothing changes.unfortunately, due to the position of lucas' cast, she doesn't think they can get a good echo. we'll have to plan to have it in erie or get it cut off here, echo here, then go to erie to get a new cast. i'll have to contact heather johnson and see if it is feasible to have it done in erie.also as we were talking, she mentioned that she really does think that all infantile scoliosis cases probably do have a component that is a result of a connective tissue abnormality -- i've always hated the idiopathic designation of this scoliosis. now that would be an interesting study, but of course, it seems like not enough orthos refer our kids to geneticists!so that's it in a nutshell.desheap.s. she did mention that dr. peter byers at u wash in seattle is the head honcho regarding connective tissue disorders. i'm about to look him up!