Update from Robin...AKA finchfeet

[Guest guest]

Hi again, sorry about the " finchfeet " ...that's my email, I guess I missed

something when I

joined where I could put my name and then I forgot to sign off.

I should also explain that if I go missing for a while it's because it's too

difficult for me to

use the computer...two steps forward...four steps back. I'm still playing

catchup reading

the posts.

Well I contacted Dr. Hey via his web page and received a warm reception. I was

given the

option of seeing a PA in order to expedite an evaluation since I haven't had an

x-ray in a

while. I will be seen next week.

Hi Sharon,

I don't mind the silliness...my last name is finch...I'm always asked if my

parents planned it

and the answer is no...it was an accident...but they had 7 children...think of

the fun they

could have had with names. I've also gone by swanfeet because there is a

character named

swan in a book I liked, also finchfoot, swanfoot and other variations, I try to

have fun with

it. Another lifetime ago I had a nanday conure...boy could he scream. If I

wanted to sleep

in on my day off I had to bring him in the bedroom, he would walk all over the

bed until he

found a cave-like formation in the blankets where he would contentedly hang-out

until I

got up...they are characters aren't they? Did you see the documentary on public

television

about the conure colony in San Francisco and the man who was taking care of

them?

I will look into both doctors you suggested in NYC and Boston, in the event

surgery is

recommended I will have to weight out my options especially in terms of where I

would

recover, we live in three different places and two of them are up three flights

of stairs. We

live in the Schenectady area, and spend part of the summer in the adirondacks

(Old Forge).

NYC is the more practical way to go because Greg has a brother who lives there.

NYC is

about 3 hours from us there, Dr. Hey is also about 3 hours from us in SC. I

forget how

long it takes to get to Boston from where we are in NY, it's been a while.

The whole Marfan Syndrome thing has been really weird. I had a car accident

around

10/11 years ago, I was around 28 years old and an Orthopedic doctor asked me if

I was

ever told I had marfan syndrome. It was the first time I had ever heard of it

even though I

had practically grew up in the Orthopedic wing of Albany Medical. The doctor

told me I

should see a cardiologist and left it at that. A cardiologist did an eco and

said I just have a

thick valve, nothing to worry about, no need for followup.

I finally found a great GP in Albany who hears a clicking every time I have a

physical and

sends me for another eco for heart murmur, they are always inconclusive.

I literally just saw the PA at our doctor down here and she asked me if I've

ever been told I

have marfan syndrome and now you've asked me.

I asked the nurse how I go about finding out if I have it and she looked up a

website, but I

haven't gotten around to looking at it. I was more concerned with finding help

with my rod

issues and it's so hard to work at the computer.

Do you know if there is a test that confirms this condition? I remember reading

about it

the first time I was asked and I have an awful lot of the characteristics. I'm

so surprised

that it did not come up when I was younger. I have filled out some now that I'm

older and

look a little more normal (except for the long boney hands and fingers) but at

the time of

my surgery I was freakishly thin and lanky.

Well everybody, thanks again, I will continue reading the postings and try to

respond to

more of you as soon as I can. Take care everyone, Robin

[Guest guest]

Robin,

I am glad to hear you will have an evaluation with DrHey or his PA

soon. At the very least you will be talking to folks knowledgable

about the particulars of your situation and that will feel good to

you.

FWIW, I too had my surgery with DrRand in Boston at NEBH and

depending on where you start you drive I can say that you would be

able to make the drive between Schenectedy and NEBH in about 3 hours

and change, depending on your stops on the Mass Pike. My home is in

Nantucket but my family is from Binghamton and we often vacation up

in Ottowa on the lakes, so we drive the route often. I also consulted

DrBoachie, and if you decision was based on access via car alone,I

guess I would say they are very similar...the challenges in NYC being

traffic and parking that wouldn't present much of a problem at NEBH.

You may wish to take a look through the National Marfan Foundation

website : www.marfan.org

DrRand was the first that ever asked about the possibility with me.

He did look and my hands and wrists and never said more about it. Of

course I went home and read up on it...but have never had a full

scale evaluation just for that purpose. I do understand that it is a

difficult diagnosis and there are few good specialists around. In

reading the Foundations site I did come across the MASS Phenotype,

and I am convinced this is " me " . I will paste the article below to

save you from going in and looking for it. I know I should follow up

on it when I return to the States, aortic dissection would not be a

good thing! Hope this helps.

Take Care, Cam

Related Disorders: Skeletal Features/MASS Phenotype

What are skeletal features?

Many individuals have skeletal features that are similar to the

Marfan syndrome, but do they not have the aortic and eye problems

that are characteristic of the Marfan syndrome.

Skeletal features include:

long, thin arms and legs, which are out of proportion to the trunk

causing the armspan to be greater than the height,long, thin fingers

and toes,curvature of the spine (scoliosis),chest wall abnormalities

(pectus excavatum/or indented chestbone or pectus arinatum/protruding

chestbone),flat feet (pes planus),loose or hyperextensible joints,

highly arched roof of the mouth (palate) leading to crowding of the

front teeth.

Individuals who do not have the Marfan syndrome can have one or many

of these skeletal problems.

These problems are not life-threatening, but some may cause

discomfort and disability in affected individuals.

Who is at risk?

Often the skeletal features are inherited in families and can result

from mutations in the same gene that causes the Marfan syndrome.

The management of these skeletal problems is similar for individuals

with or without the Marfan syndrome.

It is recommended that individuals with major skeletal manifestations

of the Marfan syndrome have a thorough evaluation for the condition,

including echocardiogram and ophthalmologic examination.

What is the treatment?

Many of the skeletal features do not require treatment for most

individuals unless they become symptomatic and interfere with daily

routines.

Continued cardiac follow-up with echocardiograms every few years.

With scoliosis, the spinal curve's progression is greater in people

with the Marfan syndrome than in people who have scoliosis from an

unknown cause, however people with MASS phenotype will be treated

similarily. Treatments for scoliosis include:

Bracing is sometimes used in people with curves in the 20-40 degree

range, who have a reasonable side profile and whose skeletal growth

is not yet complete.

Surgery is an option when the curve is 40-50 degrees or greater, the

side profile is abnormal, and/or there is back pain due to

degenerative changes resulting from the scoliosis.

Children need to be monitored carefully during the time they are

growing.

Adults who have a curved spine must also be monitored because, even

between the ages of 15 and 75, there is a risk that the curve will

progress.

Annual spinal exams are recommended if there is a significant

curvature or pain.

For treatment of chest wall deformities, click on Skeleton & Joints.

What is MASS Phenotype?

MASS phenotype is the following combination of features:

Mitral valve prolapse (MVP) - when the mitral valve of the heart

closes properly, but then flops backward allowing leakage of blood

into the chamber from which it came instead of moving forward

(regurgitation)

Aortic root diameter may be at the upper limits of normal for body

size, but there is no progression to aneurysm or predisposition to

dissection.

Stretch marks of the skin unrelated to weight gain (striae).

Skeletal features of the Marfan syndrome (including scoliosis, pectus

excavatum or carinatum, and joint hypermobility).

Who is at risk?

This condition can be inherited within families and has been shown to

result from mutations in the FBN1 gene.

Autosomal dominant inheritance – Someone with the MASS phenotype has

a 50% chance of passing it on to children and 50% chance of not

passing it on.

What is the treatment?

MVP treatment

Most people without major symptoms do not require medical treatment

for this condition. It is recommended that the ascending aorta and

mitral valve be monitored by echocardiography for enlargement and

function yearly and if no progression occurs follow-up can be done

every few years.

People with MVP are usually given antibiotic prophylaxis for routine

dental procedures or minor surgery that can introduce bacteria into

the bloodstream. Bacterial infections of the heart can lead to

serious complications for people with MVP.

Medications called beta-blockers -- such as atenolol (Tenormin),

metoprolol (Lopressor), and propranolol (Inderal) -- are used to

treat more severe symptoms of MVP. Calcium blockers, such as

verapamil (Calan) and diltiazem (Cardizem), are useful in those who

cannot tolerate beta-blockers, for example those with asthma.

People with serious symptoms may require surgery to replace the valve.

Skeletal treatment

Many of the skeletal features that are similar to the Marfan syndrome

do not require treatment for most individuals.

With scoliosis, the spinal curve's progression is greater in people

with the Marfan syndrome than in people who have scoliosis from an

unknown cause.

Bracing is sometimes used in people with curves in the 20-40 degree

range who have a reasonable side profile and whose skeletal growth is

not yet complete.

Surgery is an option when the curve is 40-50 degrees or greater, the

side profile is abnormal, and there is back pain due to degenerative

changes resulting from the scoliosis.

Children need to be monitored carefully during the time they are

growing.

Adults who have a curved spine must also be monitored because, even

between the ages of 15 and 75, there is a risk that the curve will

progress.

Annual spinal exams are recommended if there is a significant

curvature or pain.

For more information see, The Scoliosis Foundation

For treatment of chest wall abnormalities, see Skeleton & Joints.

Stretch marks require no medical treatment.

[Guest guest]

Hi, Robin

I'm glad you have contacted Dr. Hey. His patients really seem to like him.

I was going to mention the National Marfan Foundation but Cam beat me to it. There is a genetic test, but I guess it's not conclusive. Sounds a bit like MS (which is another condition on my plate but only a "probable"), in that they can do tests but the single test has to be used with other criteria to get a positive diagnosis. My cousin who has a bad case of Marfan's has had spine problems including spondylolisthesis (a vertebra slipping out of alignment), mild scoliosis, has had her neck and lumbar spine fused, had a hysterectomy at age 21 for prolapsed uterus, and two operations to return her bladder to its proper position. She has a lot of pain and numbness issues and the orthopedic surgeons she's consulted don't want to do any additional work on her. But so far her echocardiograms have been ok. The thing they really watch is the aorta, which can be instant death if it ruptures. Her 6' 9" brother has no pain issues, though he did have the pectus excavatum (caved-in chest) as a kid -- not sure if he still has it. But I think he gets weary of his mother (a retired nurse) bugging him to get echos done. If it were me I'd say it's a no-brainer to get the tests done regularly, just as we 40+ women get our mammograms. As far as diagnosis goes, I thought this page looked helpful: http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=6

That's cool that you had a conure. Nandays are great, similar to my little gal who is a sun conure. She has a voice on her, too! She's our kid. We've had her for nearly 14 years, and she's certainly changed our lives. We don't have a problem with sleeping in because her room has a room-darkening window shade, and as long as it's dark she's quiet. (Yes, she has her own room.) She flies to us on command, poops in the toilet when asked, and we've recently begun some fun tricks. She will fetch a paper clip, fly to me, and put it in my hand. We started with a green one, and I've had to convince her that the other colors are safe. She definitely recognizes color differences, and I'm optimistically working on picking the correct color by name. She can't say the words like the Grey, but I'm pretty sure she can learn to respond correctly to them. I posted a great photo of her in the photos section, right after my x-rays.

Robin Finch is such a cute name! Even if robins aren't finches. I knew a girl with the last name "Thrush" in college, and I guess she should have been named Robin. I can't think of any finch names that would be good for a kid. Gold? Purple? House? Zebra? Lady Gouldian? Naw. ;^)

I hope your appointment at Dr. Hey's office next week goes great.

Sharon

[ ] Update from Robin...AKA "finchfeet"

Hi again, sorry about the "finchfeet"...that's my email, I guess I missed something when I joined where I could put my name and then I forgot to sign off. I should also explain that if I go missing for a while it's because it's too difficult for me to use the computer...two steps forward...four steps back. I'm still playing catchup reading the posts.Well I contacted Dr. Hey via his web page and received a warm reception. I was given the option of seeing a PA in order to expedite an evaluation since I haven't had an x-ray in a while. I will be seen next week. Hi Sharon,I don't mind the silliness...my last name is finch...I'm always asked if my parents planned it and the answer is no...it was an accident...but they had 7 children...think of the fun they could have had with names. I've also gone by swanfeet because there is a character named swan in a book I liked, also finchfoot, swanfoot and other variations, I try to have fun with it. Another lifetime ago I had a nanday conure...boy could he scream. If I wanted to sleep in on my day off I had to bring him in the bedroom, he would walk all over the bed until he found a cave-like formation in the blankets where he would contentedly hang-out until I got up...they are characters aren't they? Did you see the documentary on public television about the conure colony in San Francisco and the man who was taking care of them? I will look into both doctors you suggested in NYC and Boston, in the event surgery is recommended I will have to weight out my options especially in terms of where I would recover, we live in three different places and two of them are up three flights of stairs. We live in the Schenectady area, and spend part of the summer in the adirondacks (Old Forge). NYC is the more practical way to go because Greg has a brother who lives there. NYC is about 3 hours from us there, Dr. Hey is also about 3 hours from us in SC. I forget how long it takes to get to Boston from where we are in NY, it's been a while.The whole Marfan Syndrome thing has been really weird. I had a car accident around 10/11 years ago, I was around 28 years old and an Orthopedic doctor asked me if I was ever told I had marfan syndrome. It was the first time I had ever heard of it even though I had practically grew up in the Orthopedic wing of Albany Medical. The doctor told me I should see a cardiologist and left it at that. A cardiologist did an eco and said I just have a thick valve, nothing to worry about, no need for followup. I finally found a great GP in Albany who hears a clicking every time I have a physical and sends me for another eco for heart murmur, they are always inconclusive. I literally just saw the PA at our doctor down here and she asked me if I've ever been told I have marfan syndrome and now you've asked me.I asked the nurse how I go about finding out if I have it and she looked up a website, but I haven't gotten around to looking at it. I was more concerned with finding help with my rod issues and it's so hard to work at the computer.Do you know if there is a test that confirms this condition? I remember reading about it the first time I was asked and I have an awful lot of the characteristics. I'm so surprised that it did not come up when I was younger. I have filled out some now that I'm older and look a little more normal (except for the long boney hands and fingers) but at the time of my surgery I was freakishly thin and lanky.Well everybody, thanks again, I will continue reading the postings and try to respond to more of you as soon as I can. Take care everyone, Robin