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.

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

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.

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.

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.

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!

• Inherited Ataxia Disorders

• Friedreich's Ataxia
• Ataxia Telangiectasia
• Machado-Joseph Disease

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.

• How Genetic Disorders Are Inherited

• What Are Genes, DNA, and Chromosomes?

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

Photo © A.D.A.M.

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.

• More about Rett syndrome

• 2009 Meeting program

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.

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.