Re: [PineHill] NEED HELP FAST...EHLERS-DANLOS SYNDROME

HI,

What type does he have? My daughter has it...was born with it and was diagnosed

at 16. She will not die from it...she is 30. She has type 3

She has found that Sulfurzyme and BLM are very helpful BLM has type 2 chicken

collagen...supplements with HYALURONIC ACID

Hyaluronic acid is a substance that is naturally present in the human body. It

is found in the highest concentrations in fluids in the eyes and joints. The

hyaluronic acid that is used as medicine is extracted from rooster combs or made

by bacteria in the laboratory.

People take hyaluronic acid for various joint disorders,

including osteoarthritis. It can be taken by mouth or injected into the affected

joint by a healthcare professional.

The FDA has approved the use of hyaluronic acid during certain eye surgeries

including cataract removal, corneal transplantation, and repair of a detached

retina and other eye injuries. It is injected into the eye during the procedure

to help replace natural fluids.

Hyaluronic acid is also used as a lip filler in plastic surgery.

Some people apply hyaluronic acid to the skin for healing wounds, burns, skin

ulcers, and as a moisturizer.

There is also a lot of interest in using hyaluronic acid to prevent the effects

of aging. In fact, hyaluronic acid has been promoted as a "fountain of youth."

However, there is no evidence to support the claim that taking it by mouth or

applying it to the skin can prevent changes associated with aging.

How does it work?

Hyaluronic acid works by acting as a cushion and lubricant in the joints and

other tissues. In addition, it might affect the way the body responds to

injury.

Symptoms of EDS include:

* Double-jointedness

* Easily damaged, bruised, and stretchy skin

* Easy scarring and poor wound healing

* Flat feet

* Increased joint mobility, joints popping, early arthritis

* Joint dislocation

* Joint pain

* Premature rupture of membranes during pregnancy

* Very soft and velvety skin

* Vision problems

Ehlers-Danlos syndrome

Last reviewed: November 7, 2010.

Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely

loose joints, hyperelastic skin that bruises easily, and easily damaged blood

vessels.

Causes, incidence, and risk factors

There are six major types and at least five minor types of Ehlers-Danlos

syndrome (EDS).

A variety of gene mutations (changes) cause problems with collagen, the material

that provides strength and structure to skin, bone, blood vessels, and internal

organs.

The abnormal collagen leads to the symptoms associated with EDS. In some forms

of the condition this can include rupture of internal organs or abnormal heart

valves.

Family history is a risk factor in some cases.

Symptoms

Symptoms of EDS include:

* Double-jointedness

* Easily damaged, bruised, and stretchy skin

* Easy scarring and poor wound healing

* Flat feet

* Increased joint mobility, joints popping, early arthritis

* Joint dislocation

* Joint pain

* Premature rupture of membranes during pregnancy

* Very soft and velvety skin

* Vision problems

Signs and tests

Examination by the health care provider may show:

* Deformed surface of the eye (cornea)

* Excess joint laxity and joint hyper-mobility

* Mitral valve prolapse

* Periodontitis

* Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which

is rare)

* Soft, thin, or very stretchy (hyper-extensible) skin

Tests performed to diagnose EDS include:

* Collagen typing (performed on a skin biopsy sample)

* Collagen gene mutation testing

* Echocardiogram (heart ultrasound)

* Lysyl hydroxylase or oxidase activity

Treatment

There is no specific cure for Ehlers-Danlos syndrome. Individual problems and

symptoms are evaluated and cared for appropriately. Frequently, physical therapy

or evaluation by a doctor specializing in rehabilitation medicine is needed.

Expectations (prognosis)

People with EDS generally have a normal life span. Intelligence is normal.

Those with the rare vascular type of EDS are at significantly increased risk for

rupture of a major organ or blood vessel. These individuals, therefore, have a

high risk of sudden death.

Complications

Possible complications of Ehlers-Danlos syndrome include:

* Chronic joint pain

* Early-onset arthritis

* Failure of surgical wounds to close (or stitches tear out)

* Premature rupture of membranes during pregnancy

* Rupture of major vessels, including a ruptured aortic aneurysm (only in

vascular EDS)

* Rupture of a hollow organ such as the uterus or bowel (only in vascular EDS)

* Rupture of the eyeball

Name Number Description OMIM Gene(s)

Hyper-mobility type 3 Affects 1 in 10,000 to 15,000 and is caused by

an autosomal dominant or autosomal recessive mechanism. Mutations in either of

two separate genes (which are also involved in Vascular

EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Joint

hyper-mobility is the hallmark of this type, with less severe skin

manifestations. Joint instability and chronic muskuloskeletal pain are common in

this type. 130020 COL3A1,TNXB

Classical types 1 & 2 Affects approximately 1 in 20,000 to 50,000 people. It is

caused by autosomal dominant mechanism and affects type-V collagen, as well as

type I. Type 1 typically presents with severe skin involvement, and type 2

presents with mild to moderate skin involvement. 130000,130010

COL5A1,COL5A2,COL1A1

Vascular type 4 Is an autosomal dominant defect in the type-III

collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The

vascular type is considered one of the more serious forms of Ehlers-Danlos

syndrome because blood vessels and organs are fragile and prone to tearing

(rupture). Many patients with EDS type 4 express a characteristic facial

appearance (large eyes, small chin, sunken cheeks, thin nose and lips, lobe-less

ears), have a small stature with a slim build, and typically have thin, pale,

translucent skin (veins can usually be seen on the chest and abdomen) with very

easy bruising and propensity to develop ecchymoses. About one in four people

with vascular type EDS develop a significant health problem by age 20 and more

than 80 percent develop life-threatening complications by age 40. 130050 COL3A1

Kyphoscoliosis type 6 Is an autosomal recessive defect due to deficiency of

an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases

reported. The kyphoscoliosis type is characterized by progressive curvature of

the spine (scoliosis), fragile eyes, and severe muscle weakness. 225400,229200

PLOD1

Arthrochalasis types 7A & B Is also very rare, with about 30 cases reported. It

affects type-I collagen. The arthrochalasia type is characterized by very loose

joints and dislocations involving both hips. 130060 COL1A1,COL1A2

Dermatosparaxis type 7C Also very rare, with about 10 cases reported. The

dermatosparaxis type is characterized by extremely fragile and sagging skin.

225410 ADAMTS2

[edit]So...here's a bunch of information....she also likes oils to help the

joint pain as needed like Deep Relief, Ortho Sport and Raindrops periodically.

Sacred Frankincense internally in a capsule is also helpful.

Oils On,

Sara