Cornelia De Lange Syndrome - CdLS and the Foundation that Helps

Cornelia de Lange Syndrome was named after Dutch pediatrician Cornelia de Lange, who noticed the similarities of symptoms of two of her patients in the 1930s. The occurrence of babies born with CdLS is1:10,000. Once you see the signs, you will recognize them again.

From the CdLS Foundations Press Room:

• The severity of CdLS ranges from mild to severe, but all individuals with CdLS share similar characteristics, such as small stature, hands, feet, and head; joined eyebrows; long eyelashes; upturned nose; and thin, downturned lips.
• Physical and cognitive development is delayed. Self-injurious behaviors are common, and between 60-70% display some degree of autism spectrum disorder.
• Speech and language are delayed or absent.
• Limb differences and/or missing limbs occur in 25% of cases.
• Common medical problems include gastro-esophageal reflux disease, bowel abnormalities, heart defects, seizures, and cleft palate.
• Since 2004, changes in three different genes have been identified as causing CdLS. These genes are NIPBL on chromosome 5; SMC1A on the X chromosome; and SMC3 on chromosome 10. Changes in the latter two genes seem to correlate with a milder form of the syndrome.

Interview with Assistant Director of CdLS Foundation - Marie Concklin-Malloy

On May 24, 2010, I interviewed Marie Concklin-Malloy who is the Assistant Executive Director of the Cornelia de Lange Syndrome Foundation Inc. and she told me her organization serves about 2,500 families nationwide.

Along with doing some of the PR for the organization, Marie handles some of the administration as well. She told me that for the last 4.5 years working for the organization, "I feel good every day I come to work. Here, there are good people doing great work. It feels wonderful when you can take what you know how to do and do good things."

What are some of the things the foundation does?

The CdLS Foundation has different "customers" each with different needs.

We work with the parents to help them with information not only about the syndrome but about the services that may be available in their areas. We give them information about education rights in the public school systems. We provide assistance to help educate them about feeding tubes, and hearing loss, and nutrition. We give them help on the Medicare process. The life expectancy for someone with CdLS is average, providing they get the medical care and support they need. Feeding and the digestive problems can be overwhelming. Many of these kids are tube fed. Even more have severe reflux.

We also work with the doctors. Gene testing does not always show a mutation, so many patients diagnosed with CdLS have received a clinical diagnosis. We have a team of doctors that sit on our clinical staff to help answer medical questions through our Ask the Doctor service. In addition to providing education and networking with families and professionals, we also provide small research grants when funds are available. Our average projects run between $2,000 and $5,000. We can do a lot with very little.

Every CdLS foundation donation, every kind word, every act of support is really appreciated. We understand the economy is tough right now. We haven't been able to fund additional research projects since 2008, but we are doing the best that we can with what we have. These families really struggle, and this is a great cause.

Sources:

CdLS Media Information

Interview with Marie Concklin-Malloy