genetically deficient collagen

Hello,

In the last 2-3 years I started to accuse joint pain.I am 23 years old. I have been to many rheumatologists doctors who said they were a more sensitive nature.
The last doctor that I was rheumatologists, based on medical history, he diagnosed genetic collagen deficiency, Ehlers-Danlos syndrome.
My medical history is
- myopia strong right eye of birth, -18, treated by transplantation of the crystal but seeing not returned, in the last 2 years diopter left eye increased from 0 to -2
- For 2 years I have several cysts in the breasts
- 2 left hip surgery - "Hip Resort, first at 17 years and the second operation at 19 years. I note that between 13-16 years have made athletics
-9-10 years ago ago (do not remember exactly) in my left-hand wrist appeared a cyst .At the time the doctor said it was a calcium deposit that will absorb.I wore an elastic band, local treatment with various creams, ointments
- for one year the cyst has grown (I guess following a coup at the wrist) so that if I just bit me hard in my hand if I just bend the wrist or support me in it
-Spine doctor told me that I have an advanced state of scoliosis and lumbar hiperlodoza
-I have joint pain (ankles, knees, shoulders, elbows) who aplifica to cold weather change or just standing at more state on the seat.if I stay in bed with knees bent to my chest hurt both hips
căutare
-- Fatigue almost always (even during periods of leave)
-doctor is almost certain that this is why my problem: genetically deficient collagen
-We mention that in my family (of my parents knowledge) did not have people with these symptoms or eye problems.
My aunt (mother's sister) has high diopters (increased following the birth) and now at 55 years has a diagnosis of rheumatoid
I do not know what is important but the father's grandparents were both Alzheimer's disease
in Romania are unfortunately very few doctors genetics
Unfortunately in our country are no tests to confirm the syndrome and the type.I do not know what to do, where to go
We want a child. will transmit the disease if the child or other genetic changes?
Where can these tests, how long does it take and how much? In Romania we have medical insurance but I do not think these tests are settled
astept cu nerabdare un raspuns   I look forward to a response

Thanks
Ioana Nastase
Bucharest, Romania

[nastaseioana]

expect an answer or advice.
Thanks

[glynn19]

My dear, I hope you have received a reply by now. If not from this website than from somewhere else. If you are still seeking answers, I would recommend you visit www.MayoClinic.com and contact them. They are one of the best medical organizations in the United States and have a genetics department.

I have a friend who sought treatment at their Minnesota location but they have three different locations in the United States. You may ask if they do any treatment for those without insurance. That's what I am working on right now.

Best of luck to you and God bless.
Gina

[nastaseioana]

Hello ,

Gina , thanks for your replay and advice .

Finally, I found in my country a very good geneticist doctor . Based on clinical examination, some blood tests and osteoporosis test, the doctr told me I have a genetic disorder of collagen but is a minor disorder.
Is possible that after the age of 35-45 years , because of this disease, joint pain grows in intensity.
I understand that I can only take supplements based on glucosamine and chondroitin from shark cartilage. These supplements could prevent deterioration of cartilage, joints

In our country there are no genetic tests to detect gene specifically affected.
Indeed, such tests can be done in European countries like France, Belgium or England.But the cost is very high (can reach 4000 euro)

As a final conclusion :
-  supplements listed above are effective even in time?
-  what are the chances that when you get pregnant, the child to have problems?

Thank you very much
Ioana