About Rare Diseases

Girl with "mermaid syndrome" dies at age 10

2009-10-28T12:37:57Z

Shiloh Pepin, who was born with sirenomelia, or "mermaid syndrome," has died at the age of 10. She passed away last Friday in Maine.

Sirenomelia is a condition in which one's legs are fused together from the waist down. Pepin did not have any genital organs or a large intestine. Most children born with sirenomelia die soon after birth.

You can read more about Shiloh at ABCNews.com.

Girl with "mermaid syndrome" dies at age 10 originally appeared on About.com Rare Diseases on Wednesday, October 28th, 2009 at 12:37:57.

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Folotyn Gets OK for Rare Lymphoma Treatment

2009-09-28T10:36:44Z

Though the news might not make a splash for most, those with relapsed and refractory peripheral T-cell lymphoma are rejoicing.The FDA has approved Folotyn (pralatrexate) for for treatment of this rare cancer -- the first treatment ever available.� Toxicity is a concern, and so those being treated with Folotyn are recommended to take folic acid and vitamin B12 supplements.

FDA News Release

Folotyn Gets OK for Rare Lymphoma Treatment originally appeared on About.com Rare Diseases on Monday, September 28th, 2009 at 10:36:44.

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Sabril approved by FDA to treat infantile spasms

2009-09-01T08:13:11Z

On August 21, 2009, the U.S. Food and Drug Administration (FDA) approved Sabril (vigabatrin) to treat infantile spasms in children ages 1 month to 2 years. Infantile spasms are a type of seizure disorder, often part of West syndrome, in which the infant suddenly bends forward at the waist and the body, arms, and legs stiffen. These spasms last a few seconds and occur in clusters of anywhere from 2 to 100 spasms at a time. Some infants have dozens of these clusters of spasms in a day.

Sabril is the first drug in the United States approved to treat infantile spasms. Damage to vision is an important safety concern with the use of Sabril. The drug will have a boxed warning to alert health care professionals to this risk of a progressive loss of peripheral vision with potential decrease in visual acuity. The risk of vision damage may increase based on the dosage and duration of use, but even the lowest doses of Sabril can cause vision damage. Periodic vision testing is required for those taking Sabril. Because of the risk of permanent vision damage, the drug will be available only through a restricted distribution program.

Sabril approved by FDA to treat infantile spasms originally appeared on About.com Rare Diseases on Tuesday, September 1st, 2009 at 08:13:11.

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Osteogenesis Imperfecta

2009-08-30T08:27:37Z

Osteogenesis imperfecta, also known as brittle bone disease, is an inherited condition. Almost all individuals with osteogenesis imperfecta have fragile bones that break easily.

Photo � A.D.A.M.

Osteogenesis Imperfecta originally appeared on About.com Rare Diseases on Sunday, August 30th, 2009 at 08:27:37.

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BPNA Rare Disorders Symposium September 29, 2009

2009-08-27T08:32:55Z

The 8th European Pediatric Neurology Society Congress is being held September 30 - October 3, 2009, in Harrogate, England. A Rare Disorders Symposium will be held on September 29 prior to the Congress. This Symposium, being organized by Professor Brian Neville, will cover topics such as:

narcolepsy
cerebellar hamartomas
Landau-Kleffner syndrome
Sturge-Weber syndrome
Rasmussen's syndrome
Aicardi-Goutieres syndrome
congnitive, behavioral, and educational issues
research relationships with support groups

Attendance can be booked through www.bpna.org.uk/epns2009.

BPNA Rare Disorders Symposium September 29, 2009 originally appeared on About.com Rare Diseases on Thursday, August 27th, 2009 at 08:32:55.

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Living With Ataxia online support group

2009-08-25T17:28:33Z

Ataxia means loss of voluntary muscle control, resulting in lack of balance and coordination. Some people may have ataxia due to an inherited genetic disorder. Others may develop ataxia as a result of another disorder or condition, such as a tumor or stroke.

LivingWithAtaxia.org is an online support group for those living with hereditary or non-hereditary ataxia. The site features a forum, chat, photos, events listing, and blog posts from site members. If you want to know what living with ataxia is like, or want to find other people dealing with ataxia, this site is a great place to start.

And mark your calendar: September 25, 2009, is International Ataxia Awareness Day!

Living With Ataxia online support group originally appeared on About.com Rare Diseases on Tuesday, August 25th, 2009 at 17:28:33.

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Hydrolethalus Syndrome

2009-08-23T08:37:33Z

Hydrolethalus syndrome is a fatal group of birth defects caused by a gene mutation on chromosome 11. About 70% of babies with the syndrome are stillborn. Those born alive do not survive for very long.

Photo: Extra fingers or toes is a symptom of hydrolethalus syndrome

Photo � A.D.A.M.

Hydrolethalus Syndrome originally appeared on About.com Rare Diseases on Sunday, August 23rd, 2009 at 08:37:33.

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European Working Group on Rett Syndrome 2009 Meeting

2009-08-19T08:32:35Z

The European Working Group on Rett Syndrome 2009 Meeting will be held September 17-18 in Stresa, Italy. Rett syndrome is a genetic disorder that affects the brain and nervous system. The meeting provides an opportunity to discuss Rett syndrome-related science, to find collaborators for grant applications, and to exchange reagents and ideas. Moreover, the close contact with the patient associations should also help to focus better on the scientific problems that need to be resolved to find a cure for patients. Online registration is available until September 5.

European Working Group on Rett Syndrome 2009 Meeting originally appeared on About.com Rare Diseases on Wednesday, August 19th, 2009 at 08:32:35.

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Ellis Van Creveld Syndrome

2009-08-15T21:40:45Z

Ellis Van Creveld syndrome is an inherited genetic disorder of chromosome 4. It causes distinctive birth defects, and often a shortened life expectancy. The syndrome is prevalent among people who are Old Order Amish.

Ellis Van Creveld Syndrome originally appeared on About.com Rare Diseases on Saturday, August 15th, 2009 at 21:40:45.

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11th International Congress on Inborn Errors of Metabolism

2009-08-12T18:20:01Z

The 11th International Congress on Inborn Errors of Metabolism will be held August 29 - September 2, 2009, in San Diego, California. Hosted by the Society of Inherited Metabolic Disorders (SIMD), the program will offer free papers, posters, invited lectures from distinguished and world renowned speakers, workshops and exhibits and a variety of social activities. The Congress will cover topics such as:

Newborn screening for metabolic disorders
Treatment options in phenylketonuria (PKU)
Lysosomal storage diseases
Channelopathies
Mitochondrial disorders
Peroxisomal disorders
X-linked ALD
Pompe disease

Congress registration is still available, including on-site registration.

11th International Congress on Inborn Errors of Metabolism originally appeared on About.com Rare Diseases on Wednesday, August 12th, 2009 at 18:20:01.

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