Rare Disease Awareness: Ehlers-Danlos Syndrome

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the fifteenth installment.

Here I get to explain a bit about another connective tissue disorder that in certain areas also closely mimics my own symptoms. Some doctors I’ve seen have thought that perhaps EDS was the disorder I suffer from.

Day 15 – Ehlers-Danlos Syndrome

What is it? Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder. The degree in which a person suffers from the disorder can vary significantly from one individual to the next. There are also several different types of EDS, each one with a different potential severity and probable outcome. Each type also differs in prevalence. The classical type occurs in approximately 1 in 20,000-50,000 people, the hyper-mobility type about 1 in 10,000-15,000, the vascular type; 1 in 100,000 to 250,000, the kyphoscoliosis type; fewer than 60 cases ever reported, the arthrochalasis type; only around 30 known cases, and the rarest of all; dermatosparaxis, with only 10 recorded cases.

What effects does it have on the body? When you take into account the different body systems containing connective tissue along with each different type of EDS you get a wide range of possible effects. The most prevalent and characteristic features of EDS are extreme joint hyper-mobility along with multiple joint dislocations, skin that is often stretchy, translucent, silky, and/or easily bruised, scoliosis, low muscle tone, as well as possible eye problems such as dislocated lenses. Those with the vascular form of EDS are at a high risk of multiple artery and bowel ruptures, a dangerous, potentially fatal manifestation of the disorder.

How is it diagnosed? EDS is generally diagnosed by clinical findings along with the patient’s family history (though, not all cases are inherited, some are sporadic). In certain types of EDS a skin biopsy can be used to detect malformations of the connective tissue therefore aiding in diagnosis.

Did you know? Certain variations of EDS have been know to appear in animals such as himalayan cats, specific domestic short haired cats, and even in some breeds of cattle. It can also occur as a spontaneous condition in domestic dogs and has been found to be very similar to a disorder affecting horses known as degenerative suspensory ligament desmitis.

Where can I learn more? To learn more visit The Ehlers-Danlos National Foundation‘s website.

Rare Disease Awareness: Klippel-Trénaunay-Weber Syndrome

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the thirteenth installment.

Day 13 – Klippel-Trénaunay-Weber Syndrome

What is it? Klippel-Trénaunay-Weber Syndrome (KTS) is a congenital condition effecting blood vessels and/or lymph vessels. It effects males and females equally and is not limited to any specific racial or ethnic group.

What effects does it have on the body? The main characteristics of KTS are a port wine stain birthmark, venous and lymphatic malformations -including major varicose veins and finally hypertrophy of bony and soft tissues. Some other effects of KTS include limb underdevelopment, fingers and toes that may be too large, too small, webbed or even missing, large or small head and a face where one side is possibly smaller than the other. Those with KTS are at a higher risk of developing eye problems such as cataracts and glaucoma. They may also suffer from urinary tract and intestinal problems.

How is it treated? Because of the complexity of KTS no single treatment is available. Some options include surgery for effects such as varicose veins, bone deformity and limb length correction. Several non surgical options are also available like compression therapy.

Where can I learn more? You can learn more at Medicine Net‘s website.

Rare Disease Awareness: Rubinstein-Taybi Syndrome

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the tenth installment.

Day 10 – Rubinstein-Taybi Syndrome

What is it? Rubinstein-Taybi Syndrome (RTS) is a genetic disorder resulting from a gene mutation in CREBBP, which makes a protein that helps regulate activity in many other genes. It has been noted that a small percentage of RTS is also the result of the mutation of a different gene. RTS effects approximately 1 in 100,000 to 125,000 people.

What effects does it have on the body? Those with RTS are at an increased risk of developing both benign and malignant tumors as well as leukemia and lymphoma. The characteristic features of Rubinstein-Taybi Syndrome are broad thumbs and first toes, short stature, small head and bone growth and learning disabilities. RTS may effect a wide variety of different body systems from one individual to the next. Those with this disorder may also suffer from eye problems, heart and kidney defects, dental problems, short attention span and obesity. 

What causes it? Though RTS is autosomal dominant, meaning one copy of the mutated gene is enough to cause the disease if inherited from a parent, most cases are sporadic in nature. These cases occur as the result of a new mutation, without any family history of the disorder.

How is it diagnosed? RTS is diagnosed by physical exam along with blood tests and x-rays. To confirm diagnosis of the disorder a genetic test may be done to see if the appropriate genes are mutated or missing entirely.

Where can I learn more? You can learn more at Genetics Home Reference‘s website or at Rubinstein-Taybi.org.

Rare Disease Awareness: Noonan Syndrome

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the ninth installment.

Day 9 – Noonan Syndrome

What is it? Noonan Syndrome (NS) is a congenital disorder considered to be a type of dwarfism. It affects both males and females equally. NS is often referred to as a “hidden” syndrome because the symptoms may go unnoticed, though, it’s effects may be many and differing in severity.

What effects does it have on the body? The potential effects of Noonan Syndrome are vast and varied. Two thirds of individuals with NS suffer from one of several heart defects, including cardiomyopathy (disease of the heart muscle). Other body systems that are affected are the gastrointestinal system, lymphatic system, musculoskeletal, blood, and neurological systems. NS also comes with a variety of physical characteristics such as short stature, widely set eyes, low set ears, deep philtrum and excess skin at the back of the neck among many other potential effects.

How is it diagnosed? NS is diagnosed based on clinical features. The individual can be screened for certain mutations, but the absences of such does not rule out a diagnosis of NS.

Where can I learn more? To learn more go to the Noonan Syndrome Support Group‘s website.

Rare Disease Awareness: Fatal Familial Insomnia

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the eighth installment.

Day 8 – Fatal Familial Insomnia

What is it? Fatal Familial Insomnia (FFI) is an extremely rare inherited disease of the brain. Most often caused by a protein mutation passed down through families, but it can also develop spontaneously with a non-inherited mutation variant called sporadic Fatal Insomnia (sFI). The average age of onset in FFI is 50 but can range from 18 to 60. There are only 40 families worldwide that have been found to carry the disease, affecting about 100 people altogether. If a parent has the mutated gene there will be a 50% chance that the child will also inherit the disease.

What are the effects? There are four stages in the progression of FFI. The first stage includes sudden onset of sleepiness and insomnia resulting in phobias, paranoia, and panic attacks lasting about 4 months. During the second stage hallucinations and panic attacks become increasingly apparent, this stage lasts about 5 months. The third stage involves the absolute inability to sleep along with rapid weight loss and diminished cognitive performance lasting three or so months. The end stage includes dementia. The patient becomes mute and unresponsive over the course of six months after which death occurs.

Can it be treated? There is no cure for FFI or sFI. Sleeping pills and barbiturates have shown to be unhelpful and actually speed up the disease instead. Inducing comas has also proven unsuccessful. While the patient appeared to be asleep his brain still remained completely active. One patient was able to live longer than expected by using several different methods such as vitamin therapy, meditation, certain stimulants and narcoleptics. He even tried complete sensory deprivation in the hopes of inducing sleep at night and increase alertness during the day. Though his trials extended his life, he eventually succumbed to the classic four stages of the disease.

Where can I learn more? Because of it’s rarity it’s hard to find much information online regarding the disorder. I found this 10 minute documentary on youtube very interesting and wikipedia had some good, useful, information as well.

Rare Disease Awareness: Huntington’s Disease

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the seventh installment.

Day 7 – Huntington’s Disease

What is it? Huntington’s Disease (HD) is a neurodegenerative genetic disorder, affecting muscle coordination. As the disease progresses it leads to a decline in cognitive function and eventually dementia. Though HD affects approximately 5-10 people per 100,000 worldwide it’s prevalence varies greatly geographically. This is the result of ethnicity, migration and immigration patterns. The incidence of HD is highest among those of Western European descent. For instance, about 1 in every 10,000 Canadians has the disorder.

What are the effects of it? During the early stages of the disease subtle changes in the individual’s personality, cognition, and physical skills begin to arise. The initial, characteristic jerky, random, uncontrollable movements known as chorea (hence the former title of “Huntington’s Chorea”) can be seen as well as lack of coordination, rigidity, writhing,  and abnormal posturing as HD progresses. Cognitive abilities continue to progressively deteriorate. Life expectancy for Huntington’s Disease is generally about 20 years from the onset of the first noticeable symptoms.

What causes it? Because of it’s inheritance pattern anyone who has a parent with Huntington’s Disease has a 50% chance of receiving a copy of the mutated gene from them, thus also eventually ending up with the disease. The onset of HD is often later in life and so it does not generally effect reproduction.

Where can I learn more? If you want to learn more about HD go to the Huntington’s Disease Society of America or the Huntington Society of Canada.

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Rare Disease Awareness: Charcot–Marie–Tooth Disease

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the fifth installment.

Day 5 – Charcot–Marie–Tooth Disease

What is it? Charcot–Marie–Tooth Disease (CMT) though rare, is still one of the most commonly inherited neurological disorders. It’s estimated to effect about 125,000 people in the U.S. and 2.6 million people worldwide. CMT is an inherited disorder passed down through families and capable of taking different forms from person to person. Characteristically, as the disease progresses, loss of touch sensation and muscle tissue in ankles, feet and legs will become continuously worse.

What does it look like? Charcot–Marie–Tooth disease can effect individuals of both sexes and all races and ethnic classes. Most commonly patients with CMT present with high arched feet, claw toe (curled toes) and foot drop earlier in the course of the disease. Foot drop is when a sufferer begins to drag their toes along the ground when walking or avoids this by bending their knees to lift the foot higher during each step.  Foot drop occurs due to muscle weakness or damage to the peroneal nerve. Muscle atrophy (wasting) of the legs can lead to what is known as “stork leg” or an “inverted bottle” appearance.

What effects does it have on the body? As CMT progresses it has the potential to effect vision, hearing and breathing as well as the neck and shoulder muscles. It’s not uncommon for a patient to present with scoliosis and/or malformed hip sockets. Not only this but chewing, swallowing, speaking and gastrointestinal problems can also be present. Neuropathic pain is often an effect of CMT, it’s severity varying from person to person.

How is it diagnosed? There are a few different ways that CMT can be diagnosed. Examination of symptoms, electromyography (nerve reflex test), biopsy of the nerve, and DNA testing can all possibly be used.

Where can I learn more? To learn more check out the National CMT Resource Center and the Hereditary Neuropathy Foundation as well as the Charcot–Marie–Tooth Association‘s  or the National Institute of Neurological Disorders and Stroke‘s websites.

Rare Disease Awareness: Williams Syndrome

February 29^th is Rare Disease Day. In the hopes of raising awareness I pledged to write one post each day of the month of February about a different rare disease. This is the third installment.

Day 3 – Williams Syndrome

What is it? Williams Syndrome (WS) is a genetic disorder of neural development caused by the deletion of approximately 26 genes on chromosome 7. WS is non-hereditary and affects between 1 in 7,500 people to 1 in 20,000. It occurs equally in both sexes and all races and ethnic groups.

What does it look like? The facial features observed in children with WS are “elfin” like in nature. This includes a wide mouth with full lips, small chin, small upturned nose, a long philtrum, widely spaced teeth and low nasal bridge. Individuals with WS are typically very social and highly verbal. They are largely uninhibited and can be overly friendly with people they don’t know. They can also hyperfocus on the eyes of the individuals they’re engaging with socially. 

How is it diagnosed? A suspected diagnosis of WS can be confirmed by a genetic blood test known as ’fluorescent in situ hybridization’. More recently another genetic test has been used to diagnose Williams Syndrome known as micro-array analysis. WS conclusion, though becoming more efficient, is still under-diagnosed. When a diagnosis is made it’s often somewhat late in life.

What effects does it have on the body? WS can affect multiple body systems in numerous different ways. Cardiac problems often manifest as heart murmurs and narrowing of the aorta or pulmonary arteries, though sometimes benign, these issues can often lead to more serious complications. Dental irregularities, kidney abnormalities, low muscle tone and joint laxity in children, developmental delay and ADHD are all common features observed in WS.

How is it treated? The earlier WS is diagnosed the better. Early diagnosis can aid in a caregivers understanding of and ability to support the individual with the disorder. This way teaching methods and day to day life can be properly catered to ensure they reach their full potential. They should also be monitored by a health care professional in order to adequately treat symptoms as they arise.

Did you know? Hyperacusis (hearing sensitivity) occurs in about 90% of children with Williams Syndrome. Often individuals with WS display a love of music and are far more likely than those in the general population to possess perfect pitch.

Where can I learn more? To learn more visit the Williams Syndrome Association‘s website (U.S.) or the Canadian Association for William’s Syndrome . Also, 20/20 is doing a feature on two women with WS  on their February 9th program.

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