the real pacman
1st May 2001, 10:43 PM
Months ago I made a post about a girl named Amy who has Ehlers–Danlos syndrome (EDS), she has been doing well. But overall I never was too sure. She could dislocate her shoulder by trying to pick up a book and such light items. I was informed today that she was again admitted to the local hospital.
When I made my last post it was right before she went to the US to have tests done. All tests came back good, she was told taht she can plan on children. But I'm starting to think she won't get that far. Again, I'm taking this time to inform you all of what I consider the worst disease possible for a human to obtain aside from leprocy.
Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular(joint) hypermobility, skin extensibility and tissue fragility.There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms.Each type of EDS is a distinct disorder that "runs true"in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. Individuals with EDS have a defect in their connective tissue, the tissue which provides support to many body parts such as the skin, muscle sand ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
Symptoms
Clinical manifestations of EDS are most often skin and joint related and may include:
Skin: soft velvet–like skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.
Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
Prevalence
At this time, research statistics of EDS show the prevalence as 1 in 5,000 to 1 in 10,000. It is known to affect both male sand females of all racial and ethnic backgrounds.
Hereditary Patterns
The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found in another EDNF informational brochure.Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.
How is EDS Diagnosed
Diagnosis of EDS is based upon clinical findings and upon the family history. Since many patients do not fit neatly into one of the specific types of EDS, a diagnosis is often delayed or overlooked. Specific diagnostic tests are available for some types of EDS in which there is a known biochemical defect. Sometimes,a physician may perform a skin biopsy to study the chemical makeup of the connective tissue. The biopsy involves removing a small piece of skin, under local anesthesia. Physicians who are able to diagnose EDS may include medical geneticists, pediatricians,rheumatologists and dermatologists.
Treatment/Management of EDS
The gaping skin wounds, which are common in several types of EDS, should be approached with care. Proper repair of these wounds is necessary to prevent cosmetic disfigurement. Surgical procedure scan be risky, as fragile tissues can unexpectedly tear. Suturing may present problems for the same reason. Excessive sun exposure should be avoided by the daily use of sunscreen. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. Physicians mayalso consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily. Prior to starting a regimen such as this, it is imperative to consult with your physician for specific recommendations.
In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.
Prognosis
The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal.
Reference:
Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., &Wenstrup, R. (in press). Ehlers-Danlos Syndrome: Revised Nosology,Villefranche, 1997. American Journal of Medical Genetics.
Types Of Ehlers–Danlos Syndrome
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility,skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles,ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue. There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
Classical Type (Formerly EDS Types I & II)
Marked skin hyperextensibility (stretchy) with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with the evidence of tissue fragility and easy bruisability. Examples of tissue extensibility and fragility include hiatal hernia, anal prolapse in childhood and cervical insufficiency. Hernias may be a post-operative complication. Scars are found mostly over pressure points such as the knees, elbows, forehead and chin. Molluscoid pseudo tumors(calcified hematomas) associated with scars are frequently found over pressure points such as the elbows, and spheroids (fat containing cysts) are usually found the on the forearms and shins.
Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus (flat foot) to name a few. Recurrent joint subluxations are common in the shoulder, patella and temporomandibular joints.Muscle hypotonia and delayed gross motor development may also be evident.
Clinical Testing - Abnormal electrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V has been detected in several but not all families with the Classical Type. The Classical Type of EDS is inherited in an autosomal dominant manner.
Hypermobility Type (Formerly EDS Type III)
Joint hypermobility is the dominant clinical manifestation.Generalized joint hypermobility that affects large (elbows, knees)and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement(hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity.
Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. Skeletal X-rays are normal. Musculoskeletal pain is early onset, chronic and may be debilitating. The anatomical distribution is wide and tender points can sometimes be elicited.
To date, no distinctive biochemical collagen finding has been identified by researchers. The Hypermobility Type of EDS is inherited in an autosomal dominant manner.
Vascular Type (Formerly EDS Type IV)
This type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin. This is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals.These manifestations include large eyes, thin nose, lobeless ears,short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities.Minor trauma can lead to extensive bruising.
Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier.Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.
Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus (clubfoot) is frequently seen at birth. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingivalrecession and complications during and after surgery (i.e. wounddehiscence).
The Vascular Type of EDS is caused by structural defects in the proa1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.
Kyphoscoliosis Type (Formerly EDS Type VI)
Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with Scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.
Tissue fragility including atrophic scars and easy bruising may be seen in the Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include: marfanoid habitus (Marfan like features); micro cornea (abnormally small cornea); and radiologically considerable osteopenia (diminished amount of bone tissue).
Kyphoscoliosis Type EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed through a urine test.
Arthrochalasia Type (Formerly EDS Type VIIB)
Congenital hip dislocation has been present in all biochemically proven individuals with this type of EDS. Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS. Other manifestations of this type may include:skin hyperextensibility with easy bruising; tissue fragility including atrophic scars; muscle hypotonia; Kyphoscoliosis and radiologically mild osteopenia.
The Arthrochalasia Type is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.
Dermatosparaxis Type (Formerly EDS Type VIIC)
Individuals with Dermatosparaxis Type EDS have severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy.Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.
Dermatosparaxis Type EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.
Other Types Of EDS
The current EDS type V (X-linked) has been described in a single family. It is a rare variant and the molecular basis of which remains unknown.
The current EDS type VIII is similar to the Classical Type except that in addition it presents with periodontal friability.This is a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain.
The EDS type IX was previously redefined as "Occipital Horn syndrome", an X-linked recessive condition allelic to Menkes syndrome. This was previously removed from the EDS classification.
The current EDS type X has been described in only one family.
The EDS type XI termed "Familial Joint Hypermobility syndrome"was previously removed from the EDS classification. Its relationship to the EDS is not yet defined.
Amy suffers from a Vascular type of EDS meaning that she could very well die from internal bleeding or hemorrhaging by a simple twist of the ankle, slip on the stairs, or even as drasticly as an elbow nuddged into her side. As it happens her tissue does not properly heal, and is very weak. If needed that she have surgery, it would be catastrophic, she would be placed on a rotating bed and sealed up with a goop like substance for stitches well, would just tear through her skin...
In most cases if she did die, it would be from post surgery, the body endures extreme stresses and sometimes enter shock.
I have been close friends with her for a very long time, I origionally met her through one of my girlfriends who was her cousin. At the time I didn't think much of her, but since then I have realised how special a part of my life she really is. She even at one point in time had my photo as her desktopwallpaper. (Don't ask) Anyways, what I'm saying is be glad that you don't have this running in your family.. Its nasty..
But what has me bothered the most is that I haven't realised it before. I think I'm as much in love with her as anyone can be. She is kind, considerate, beautiful, funny, well you know how it all goes. But I just don't know what to do on the grounds of her going through all this, I want to help in every way I can. But she asks that I don't visit her while she is in the hospital and so on. She says she doesn't want me to see her in there.
I really dont know what the hell to do. Suggestions?
When I made my last post it was right before she went to the US to have tests done. All tests came back good, she was told taht she can plan on children. But I'm starting to think she won't get that far. Again, I'm taking this time to inform you all of what I consider the worst disease possible for a human to obtain aside from leprocy.
Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular(joint) hypermobility, skin extensibility and tissue fragility.There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms.Each type of EDS is a distinct disorder that "runs true"in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS. Individuals with EDS have a defect in their connective tissue, the tissue which provides support to many body parts such as the skin, muscle sand ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
Symptoms
Clinical manifestations of EDS are most often skin and joint related and may include:
Skin: soft velvet–like skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.
Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
Prevalence
At this time, research statistics of EDS show the prevalence as 1 in 5,000 to 1 in 10,000. It is known to affect both male sand females of all racial and ethnic backgrounds.
Hereditary Patterns
The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found in another EDNF informational brochure.Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.
How is EDS Diagnosed
Diagnosis of EDS is based upon clinical findings and upon the family history. Since many patients do not fit neatly into one of the specific types of EDS, a diagnosis is often delayed or overlooked. Specific diagnostic tests are available for some types of EDS in which there is a known biochemical defect. Sometimes,a physician may perform a skin biopsy to study the chemical makeup of the connective tissue. The biopsy involves removing a small piece of skin, under local anesthesia. Physicians who are able to diagnose EDS may include medical geneticists, pediatricians,rheumatologists and dermatologists.
Treatment/Management of EDS
The gaping skin wounds, which are common in several types of EDS, should be approached with care. Proper repair of these wounds is necessary to prevent cosmetic disfigurement. Surgical procedure scan be risky, as fragile tissues can unexpectedly tear. Suturing may present problems for the same reason. Excessive sun exposure should be avoided by the daily use of sunscreen. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. Physicians mayalso consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily. Prior to starting a regimen such as this, it is imperative to consult with your physician for specific recommendations.
In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.
Prognosis
The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal.
Reference:
Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., &Wenstrup, R. (in press). Ehlers-Danlos Syndrome: Revised Nosology,Villefranche, 1997. American Journal of Medical Genetics.
Types Of Ehlers–Danlos Syndrome
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility,skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles,ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue. There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
Classical Type (Formerly EDS Types I & II)
Marked skin hyperextensibility (stretchy) with widened atrophic scars and joint hypermobility are found in the Classical Type of EDS. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with the evidence of tissue fragility and easy bruisability. Examples of tissue extensibility and fragility include hiatal hernia, anal prolapse in childhood and cervical insufficiency. Hernias may be a post-operative complication. Scars are found mostly over pressure points such as the knees, elbows, forehead and chin. Molluscoid pseudo tumors(calcified hematomas) associated with scars are frequently found over pressure points such as the elbows, and spheroids (fat containing cysts) are usually found the on the forearms and shins.
Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus (flat foot) to name a few. Recurrent joint subluxations are common in the shoulder, patella and temporomandibular joints.Muscle hypotonia and delayed gross motor development may also be evident.
Clinical Testing - Abnormal electrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V has been detected in several but not all families with the Classical Type. The Classical Type of EDS is inherited in an autosomal dominant manner.
Hypermobility Type (Formerly EDS Type III)
Joint hypermobility is the dominant clinical manifestation.Generalized joint hypermobility that affects large (elbows, knees)and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement(hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity.
Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. Skeletal X-rays are normal. Musculoskeletal pain is early onset, chronic and may be debilitating. The anatomical distribution is wide and tender points can sometimes be elicited.
To date, no distinctive biochemical collagen finding has been identified by researchers. The Hypermobility Type of EDS is inherited in an autosomal dominant manner.
Vascular Type (Formerly EDS Type IV)
This type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin. This is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals.These manifestations include large eyes, thin nose, lobeless ears,short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities.Minor trauma can lead to extensive bruising.
Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier.Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.
Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus (clubfoot) is frequently seen at birth. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingivalrecession and complications during and after surgery (i.e. wounddehiscence).
The Vascular Type of EDS is caused by structural defects in the proa1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.
Kyphoscoliosis Type (Formerly EDS Type VI)
Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with Scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.
Tissue fragility including atrophic scars and easy bruising may be seen in the Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include: marfanoid habitus (Marfan like features); micro cornea (abnormally small cornea); and radiologically considerable osteopenia (diminished amount of bone tissue).
Kyphoscoliosis Type EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed through a urine test.
Arthrochalasia Type (Formerly EDS Type VIIB)
Congenital hip dislocation has been present in all biochemically proven individuals with this type of EDS. Severe generalized joint hypermobility with recurrent subluxations are seen in individuals with this type of EDS. Other manifestations of this type may include:skin hyperextensibility with easy bruising; tissue fragility including atrophic scars; muscle hypotonia; Kyphoscoliosis and radiologically mild osteopenia.
The Arthrochalasia Type is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.
Dermatosparaxis Type (Formerly EDS Type VIIC)
Individuals with Dermatosparaxis Type EDS have severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy.Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.
Dermatosparaxis Type EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.
Other Types Of EDS
The current EDS type V (X-linked) has been described in a single family. It is a rare variant and the molecular basis of which remains unknown.
The current EDS type VIII is similar to the Classical Type except that in addition it presents with periodontal friability.This is a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain.
The EDS type IX was previously redefined as "Occipital Horn syndrome", an X-linked recessive condition allelic to Menkes syndrome. This was previously removed from the EDS classification.
The current EDS type X has been described in only one family.
The EDS type XI termed "Familial Joint Hypermobility syndrome"was previously removed from the EDS classification. Its relationship to the EDS is not yet defined.
Amy suffers from a Vascular type of EDS meaning that she could very well die from internal bleeding or hemorrhaging by a simple twist of the ankle, slip on the stairs, or even as drasticly as an elbow nuddged into her side. As it happens her tissue does not properly heal, and is very weak. If needed that she have surgery, it would be catastrophic, she would be placed on a rotating bed and sealed up with a goop like substance for stitches well, would just tear through her skin...
In most cases if she did die, it would be from post surgery, the body endures extreme stresses and sometimes enter shock.
I have been close friends with her for a very long time, I origionally met her through one of my girlfriends who was her cousin. At the time I didn't think much of her, but since then I have realised how special a part of my life she really is. She even at one point in time had my photo as her desktopwallpaper. (Don't ask) Anyways, what I'm saying is be glad that you don't have this running in your family.. Its nasty..
But what has me bothered the most is that I haven't realised it before. I think I'm as much in love with her as anyone can be. She is kind, considerate, beautiful, funny, well you know how it all goes. But I just don't know what to do on the grounds of her going through all this, I want to help in every way I can. But she asks that I don't visit her while she is in the hospital and so on. She says she doesn't want me to see her in there.
I really dont know what the hell to do. Suggestions?