we're back from the NIH Connective Tissue Study in Baltimore (long)

[Guest guest]

Hello everyone,

I apologize for not emailing in so long. Health issues have been an obstacle,

and I cannot sit up at my computer for long at a time.

The boys and I spent most of last week in Baltimore participating the in the

Connective Tissue (including Ehlers-Danlos, Marfans, etc.) study being done

there under the direction of Dr. Clair Francomano, Dr. Nazli McDonnell, and Dr.

Shepherd Shurman, all of the NIH/NIA, at Harbor Hospital. We were treated with

extreme kindness, compassion, and courtesy. I took a lot of medical records for

all three of us with me for them to copy, which they greatly appreciated. We all

underwent extensive testing which included physical examinations, lab work (both

blood and urine), MRI's, bone scans of our ENTIRE skeletons, wearing a Holter

monitor for 24 hrs. (each of us), echocardiograms, answering extensive written

questionnaires as well as MANY oral questions, photography of our individual

joint dislocations/subluxing/abnormal stretching ability, etc. ( " parlor

tricks " ....yes, we know it's not good for our joints, but it was for an

extremely good cause), etc. We were given free lodging and meals there in the

hospital as participants. We were told that the Holiday Inn located on Glen

Burnie (I'll provide the phone # and address if anyone wants to email me

privately with that request) has agreed to give a substantial nightly discounted

rate (about $69/night as opposed to $140/night) for any participants' family

members who are not genetically related who need/want to accompany participants

to the study (Genetically related parents/relatives who want/need to stay with

participants can be accommodated at Harbor Hospital with food and lodging, I

believe. It is located only a few (>5 miles) miles from the hospital. Both are

less than 10 miles from Baltimore Washington International Airport, and they

will gladly provide maps to any who need them. The study does not include

funding/reimbursement for transportation (airfare, travel by car, etc.) to and

from Baltimore---but it is WELL WORTH taking part if at all possible for anyone

who qualifies to participate if you can swing it.

Our visit yielded a great deal of data both for their research purposes and for

us as well. They will send me a detailed written report of their findings in a

few weeks' time like they did the first time I went. The study will continue

over the next 5 years, with a couple/three more visits necessary to Baltimore

between now and then. I was told that they hope to eventually include approx.

300 participants worldwide, but so far only had approx. 20. They are just

getting started, so any who have EDS or any other Connective Tissue Disorder

(with their attendant medical problems)--it is not too late AT ALL to " get on

the band wagon " ! When I asked how they let people know about the research they

are doing, I was told, " word of mouth " .

When they analyzed my urine sample, they discovered that I had blood in my urine

and that I had a pretty bad urinary tract infection (unbeknownst to me, though I

admit I had experienced burning, frequency of urination, and " pressure " --and

had, as usual simply attributed my symptoms to other existing medical

problems/pain I have in my body). They promptly put me on an antibiotic, and

made me promise to follow up with my family dr. when I got home. I've already

made an appt. with Dr. to do just that. Isaac did have a syncopal

episode (fainted due to POTS) while we were there, and as luck would have it, he

still had his Holter monitor on at the time--so they were able to " capture " the

event and see it for themselves and witness the sudden drop in his blood

pressure. While we're not glad that happened, Isaac suffered no lasting ill

effects from it, and it DID serve to give them even more objective research

data. In addition, they discovered during our physical exams that and I

have ABSOLUTELY NO GAG REFLUX, and a VERY ABNORMALLY HIGH/ALMOST NON-EXISTENT

PAIN INTOLERANCE. Isaac has some gag reflux, and some degree of sensation of

pain, but waaaaaaay beyond normal limits. Because they witnessed this in all

three of us (and repeated those portions of the exam several times to be

certain, and even called other researchers in due to their amazement), they are

going to see if possibly there may be some correlation between no/very little

gag reflux and no/little sensation of pain (or at the very least, we have a very

" different " sensory means of processing pain). We obviously experience pain,

and plenty of it....but just somehow process it differently from other " normal "

people. In fact, their preliminary thoughts are that we have so much chronic

pain at such a high constant level, we may have become dangerously accustomed to

it. It will take examining many more participants for them to be able to draw

valid conclusions. They also raised the possibility that our family may even be

" a subgroup of EDS based on this and other characteristics " . and Isaac's

potassium levels were well within the normal range (this must be closely

monitored like mine because we all three take Florinef for POTS, and I have had

a lot of trouble managing my potassium level despite taking LOTS of Rx potassium

supplements daily--we all do). They didn't have my blood work results back yet,

but promised to let me know as soon as they did. Dr. McDonnell also mentioned

that both and Isaac's " Phos " was a little high. I don't know what that

means, and have asked her to please clarify and explain that to me. Does anyone

else know what she is referring to, please? The study also has a goal to try to

isolate and define the already recognized link between EDS and Fibromyalgia.

In order to " kill two birds with one stone " , also was seen by Dr.

Crone, Neurologist, at s Hopkins Hospital in Baltimore while we were there.

Basically, I wanted to make certain that everything that can and should be done

for his seizure issues IS being done. As some of you may remember, had a

MAJOR episode involving a tonic clonic seizure at school last Oct. while Lana

and I were visiting Sue at s Hopkins Hospital. I had originally gotten a

referral and an appt. for him with Dr. Crone (who is supposed to be very highly

respected and tops in his field) last Dec., but I was personally far too

physically ill (and had been for weeks) to go...so it was postponed until this

past week. Dr. Crone did make some adjustments in 's seizure control meds

which I feel are reasonable, and urged me to videotape and take heart rate/blood

pressure (if at all possible) and send it all to him to review if has

another episode like that. I promised to do so.

I am soooo thankful that Dylan, who suffers from EDS terribly, will now be

included in the NIH/NIA study in August. It is my hope and prayer that the drs.

there will help Cindy (his mom) with a treatment plan which will help improve

Dylan's quality of life. Dylan is only 17, and already having to be in an

electric wheelchair and unable to attend school and in LOTS of constant pain. I

was so thrilled that Dr. Francomano and Dr. McDonnell acted quickly upon my

pleading for help for Cindy and Dylan, and called Cindy even before I left

Baltimore. What an answer to prayer!!!

Sorry this was so long, but I did want to " check in " and give my friends,

family, and " family of choice " an update. It was so humbling and gratifying to

be given the opportunity for my sons and I to take part in such important

connective tissue disorder research. I pray that good will come of it, and that

the medical community will be able to make strides as a result. I was told,

interestingly, by Dr. McDonnell, that Dr. Wenstrup of OH (formerly

worked with Dr. Francomano) has successfully introduced and created EDS in

mice!!! While his work is yet incomplete and unpublished, I felt this is

definitely a breakthrough and can open the door for even more discoveries about

EDS and other connective tissue disorders.

Now, I must try to rest up as much as possible. Next week, goes to

Louisiana for Youth Camp with his church youth group. While he is gone, I will

be undergoing an EMG (nerve conduction test on my upper body) and a cervical

myleogram in preparation for my upcoming imminent 2nd cervical fusion. Also, it

is time for our 6 month follow-up with our allergist/pulmonologist for a workup.

Love,

~LoneStarRose~

(~~)

[Guest guest]

It was wonderful to *hear* from you !

So glad that you are up to writing such a long and detailed letter to all of

us.

It sounds like your research experience was just fantastic.

I am sure it too a bunch out of you but it will be worth it for you and for

all of us in the future I am sure.

For that..

I thank you from the bottom of my EDS/Fibromyalgia/POTS/dysautonomic/high

pain tolerant heart!

Debbi

we're back from the NIH Connective Tissue Study in Baltimore

(long)

Hello everyone,

I apologize for not emailing in so long. Health issues have been an

obstacle, and I cannot sit up at my computer for long at a time.

The boys and I spent most of last week in Baltimore participating the in the

Connective Tissue (including Ehlers-Danlos, Marfans, etc.) study being done

there under the direction of Dr. Clair Francomano, Dr. Nazli McDonnell, and

Dr. Shepherd Shurman, all of the NIH/NIA, at Harbor Hospital. We were

treated with extreme kindness, compassion, and courtesy. I took a lot of

medical records for all three of us with me for them to copy, which they

greatly appreciated. We all underwent extensive testing which included

physical examinations, lab work (both blood and urine), MRI's, bone scans of

our ENTIRE skeletons, wearing a Holter monitor for 24 hrs. (each of us),

echocardiograms, answering extensive written questionnaires as well as MANY

oral questions, photography of our individual joint

dislocations/subluxing/abnormal stretching ability, etc. ( " parlor

tricks " ....yes, we know it's not good for our joints, but it was for an

extremely good cause), etc. We were given free lodging and meals there in

the hospital as participants. We were told that the Holiday Inn located on

Glen Burnie (I'll provide the phone # and address if anyone wants to email

me privately with that request) has agreed to give a substantial nightly

discounted rate (about $69/night as opposed to $140/night) for any

participants' family members who are not genetically related who need/want

to accompany participants to the study (Genetically related

parents/relatives who want/need to stay with participants can be

accommodated at Harbor Hospital with food and lodging, I believe. It is

located only a few (>5 miles) miles from the hospital. Both are less than

10 miles from Baltimore Washington International Airport, and they will

gladly provide maps to any who need them. The study does not include

funding/reimbursement for transportation (airfare, travel by car, etc.) to

and from Baltimore---but it is WELL WORTH taking part if at all possible for

anyone who qualifies to participate if you can swing it! .

Our visit yielded a great deal of data both for their research purposes and

for us as well. They will send me a detailed written report of their

findings in a few weeks' time like they did the first time I went. The

study will continue over the next 5 years, with a couple/three more visits

necessary to Baltimore between now and then. I was told that they hope to

eventually include approx. 300 participants worldwide, but so far only had

approx. 20. They are just getting started, so any who have EDS or any other

Connective Tissue Disorder (with their attendant medical problems)--it is

not too late AT ALL to " get on the band wagon " ! When I asked how they let

people know about the research they are doing, I was told, " word of mouth " .

When they analyzed my urine sample, they discovered that I had blood in my

urine and that I had a pretty bad urinary tract infection (unbeknownst to

me, though I admit I had experienced burning, frequency of urination, and

" pressure " --and had, as usual simply attributed my symptoms to other

existing medical problems/pain I have in my body). They promptly put me on

an antibiotic, and made me promise to follow up with my family dr. when I

got home. I've already made an appt. with Dr. to do just that.

Isaac did have a syncopal episode (fainted due to POTS) while we were there,

and as luck would have it, he still had his Holter monitor on at the

time--so they were able to " capture " the event and see it for themselves and

witness the sudden drop in his blood pressure. While we're not glad that

happened, Isaac suffered no lasting ill effects from it, and it DID serve to

give them even more objective research data. In addition, they discovered

during our physical exams that and I have ABSOLUTELY NO GAG REFLUX,

and a VERY ABNORMALLY HIGH/ALMOST NON-EXISTENT PAIN INTOLERANCE. Isaac has

some gag reflux, and some degree of sensation of pain, but waaaaaaay beyond

normal limits. Because they witnessed this in all three of us (and repeated

those portions of the exam several times to be certain, and even called

other researchers in due to their amazement), they are going to see if

possibly there may be some correlation between no/very little gag reflux and

no/little sensation of pain (or at the very least, we have a very

" different " sensory means of processing pain). We obviously experience

pain, and plenty of it....but just somehow process it differently from other

" normal " people. In fact, their preliminary thoughts are that we have so

much chronic pain at such a high constant level, we may have become

dangerously accustomed to it. It will take examining many more participants

for them ! to be ab le to draw valid conclusions. They also raised the

possibility that our family may even be " a subgroup of EDS based on this and

other characteristics " . and Isaac's potassium levels were well

within the normal range (this must be closely monitored like mine because we

all three take Florinef for POTS, and I have had a lot of trouble managing

my potassium level despite taking LOTS of Rx potassium supplements daily--we

all do). They didn't have my blood work results back yet, but promised to

let me know as soon as they did. Dr. McDonnell also mentioned that both

and Isaac's " Phos " was a little high. I don't know what that means,

and have asked her to please clarify and explain that to me. Does anyone

else know what she is referring to, please? The study also has a goal to

try to isolate and define the already recognized link between EDS and

Fibromyalgia.

In order to " kill two birds with one stone " , also was seen by Dr.

Crone, Neurologist, at s Hopkins Hospital in Baltimore while we

were there. Basically, I wanted to make certain that everything that can

and should be done for his seizure issues IS being done. As some of you may

remember, had a MAJOR episode involving a tonic clonic seizure at

school last Oct. while Lana and I were visiting Sue at s Hopkins

Hospital. I had originally gotten a referral and an appt. for him with Dr.

Crone (who is supposed to be very highly respected and tops in his field)

last Dec., but I was personally far too physically ill (and had been for

weeks) to go...so it was postponed until this past week. Dr. Crone did make

some adjustments in 's seizure control meds which I feel are

reasonable, and urged me to videotape and take heart rate/blood pressure (if

at all possible) and send it all to him to review if has another

episode like that. I promised to do so.

I am soooo thankful that Dylan, who suffers from EDS terribly, will now be

included in the NIH/NIA study in August. It is my hope and prayer that the

drs. there will help Cindy (his mom) with a treatment plan which will help

improve Dylan's quality of life. Dylan is only 17, and already having to be

in an electric wheelchair and unable to attend school and in LOTS of

constant pain. I was so thrilled that Dr. Francomano and Dr. McDonnell

acted quickly upon my pleading for help for Cindy and Dylan, and called

Cindy even before I left Baltimore. What an answer to prayer!!!

Sorry this was so long, but I did want to " check in " and give my friends,

family, and " family of choice " an update. It was so humbling and gratifying

to be given the opportunity for my sons and I to take part in such important

connective tissue disorder research. I pray that good will come of it, and

that the medical community will be able to make strides as a result. I was

told, interestingly, by Dr. McDonnell, that Dr. Wenstrup of OH

(formerly worked with Dr. Francomano) has successfully introduced and

created EDS in mice!!! While his work is yet incomplete and unpublished, I

felt this is definitely a breakthrough and can open the door for even more

discoveries about EDS and other connective tissue disorders.

Now, I must try to rest up as much as possible. Next week, goes to

Louisiana for Youth Camp with his church youth group. While he is gone, I

will be undergoing an EMG (nerve conduction test on my upper body) and a

cervical myleogram in preparation for my upcoming imminent 2nd cervical

fusion. Also, it is time for our 6 month follow-up with our

allergist/pulmonologist for a workup.

Love,

~LoneStarRose~

(~~)

[Guest guest]

Are you able to get care there without insurance? If so how does this work;

where they are suggesting further studies? Do you go back and have them

done or are requests sent to your usual doc?

On 6/19/04 9:09 AM, " ceda " ceda > wrote:

>

> Subject: we're back from the NIH Connective Tissue Study in Baltimore (long)