Loeys Dietz

[Guest guest]

Hello. Will anyone with a Loeys Dietz diagnosis, or even if your doctor

suspects you may have Loeys Dietz, please email me?

Thanks,

Pam

[Guest guest]

>

> Hello. Will anyone with a Loeys Dietz diagnosis, or even if your doctor

suspects you may have Loeys Dietz, please email me?

>

Pam

I'm not the /any person who can respond to this with knowledge -but I DIo want

to thankyou for the inquiry on behalf of many of us =-- I " d been hearing this

last two =three years about the " other " / can easily be confused with EDS

/Marfans ect conditions , but havn't run across any list of what they really are

we hear refered too .

When I went to the newer foundation for Loeys Dietz , wishing to grasp a bit

more about what it is , how it may tie in for us as acm affected folks ect = to

my suprise , I see those typical symptoms listed and some less common to those

already included in this research effort - are almost the SAME as those we are

being told are seen in EDS - Marfans ect too , so it DOES all make great sense

to me = that this is amoungst those we COULD find are our determining " cause "

of acm entwinment to MY mind .

It also brings home = how difficult that plight any of us are in = when we have

the hints / and or known connective tissue envolvment - for the sake of those

just reading all this for the first time - it's only BEEN a few years since this

condition was NAMED / " discovered " =- and it's going to be that same issue - of

finding a genetics specialist who knows these disorders well = to tell apart

which is which = I'm thinking now ===and for EVERYONES sake = I thought I'd try

to explain again a bit of what I found out while chasing confirmation of EDS /

and or whom to consult with .

According to the physicans at the NIH inheritable connective tissue disorders =

there are about six =seven specialists IN THE US - who have true expertise in

this stuff == and many more who have some intrest in one or more of these

conditions ( but perhaps not the full expertise to sort out which someone has

accuratly ) == they explained that JUST like in acm needs , the averge person

they've seen in the studies to date = see's several specialists / with at least

five =six MISDIAGNOSIS labels typical along the journey before GETTING to the

connective tissue diagnosis ( and then it may be the " wrong " label for that

person too ) .

ADD that the symptoms of all three = eds /marfans /and loeys dietz all seem to

overlap LOTS = ( even the more dire types of problems seem to overlap ) == and

add in the many on the suport boards here for acm , who have been told YES = it

does appear you have SOME connective tissue disorder = well call it unspecified

or atypical X =

So far == in the chase for s confirmation ( my daughter ) I have spoken

to several geneticists at Univ. settings = two clearly knew little about eds

itself ( way way off comments made ) - and most other physicans I asked try to

help us find someone with ability to confirm = are blunt honest they didn't even

know where to refer us with a week or so time to look into it . ==

what is also clear is = Dr omono IS current on ALL of these connective

tissue disorders ( she's in Baltimore Md = teaching at Hopkins where they

made the discovery of Loeys Dietz = and would be the " east coast " go too =

specialist in my mind /understanding == able to tell which of these someone may

have .

The other six =seven include Dr Naz MC Donnell at NIH =, the cardiac /thorasic

/connective tissue specialist ( crosses into each area in his teaching possition

since these conditions include impacts to these areas of medicine ) Dr Nussbaum

in SF , = and one in Washington state ( I'd need to look up names beyond what I

wrote here ) .

It's MUCH like finding acm expertise = we will be best off to see one of the

true specialists in connective tissue disorders ==and it's been proving JUST as

simple to arrange the appt in reality / any doctors statement or report

discribing the condition as one of these = seems to be all that IS needed to

arrange consultation .

They've ALL been nice- very compationate , and no hesitation when I'd email or

call asking for their help =guidance , even giving me private back door phone

numbers to EACH Other on a couple of occations ...so don't let that " fear "

daunt anyone , they ARE nice folks with that desire to help us .

I hope that these thoughts , do help some of us wade through this == more and

more posts are appearing from folks who self screened /and or asked their

neurosurgeons IF they could have the connective tissue involvment , - then add

the newer concept discussed at asap in the last couple years now , that one

bigger aspect of acm diagnosis and considerations - is to try and determine why

that acm hernaiton even exists in us = ( specifically ) and be aware the

condition that includes acm may require OTHER specialist medicine involvment too

..

they discribed this as a " red flag " situation =- the herniation is a clue there

is some OTHER problem ==and we are best off finding out what it IS =then

treatment taylored to the specifics of the OVERALL picture .... add too =that

it's been stated now = there are about 30 KNOWN genetic syndromes that can

include acm /sm = PLUS about 50-60% estimates as currently beyond science

/medical understanding in what may be that " cause " == if we ARE going to the

geneticist to try for specifics = it's that genetics specialist with CONNECTIVE

tissue expertise we will need to get too = if we hold the hope of accurately

sorting this out well in MY mind .

So = thanks again Pam = yet another example of how we CAN all be of help to each

other !

in Paradise