According to a story from Motherhood In-Style Magazine, Miley Timmermanns was only two years old when she was first diagnosed with an extremely rare disorder: Cornelia de Lange syndrome. Parents Samantha and Jan were devastated by the news and they had never heard of the disease before. Regardless, the story from the doctors was dire: there was a strong chance that Miley would never be able to walk or speak on her own. However, the now six year old girl has been defying these unpleasant predictions.
About Cornelia de Lange Syndrome
Cornelia de Lange syndrome is a rare genetic disorder that has great variation in severity and presentation. The syndrome is caused by mutations affecting a variety of genes, the most common being the NIPBL gene. These mutations are rarely inherited and usually appear spontaneously. The precise gene responsible is not known in all cases, suggesting that more mutations remain to be discovered. Symptoms include distinct facial features, disrupted growth leading to short stature, long eyelashes and thick eyebrows, extensive body hair, digestive system problems, behavioral abnormalities, small head size, developmental delays, intellectual disability, missing digits, and various other physical and mental impairments. There is no cure, with treatment being supportive and symptomatic. To learn more about Cornelia de Lange syndrome, click here.
Miley’s Story
Miley has grown much more slowly than her siblings and she still has learning disabilities, but she has gained the ability to walk. She can speak as well, but it is often only limited to short phrases of five words or less. These developments have kept Miley’s family optimistic but because there is so little information about Cornelia de Lange syndrome, they don’t really know what to expect.
However, the family has received extensive support from the CdLS Foundation, a nonprofit group that is focused on helping patients affected by the disorder. The family have been working to help support the work of the foundation by fundraising. Next on the list is an event at Miley’s school that will help raise money for the organization.
Meanwhile, the Timmermanns family are grateful for every sign of progress from Miley. To learn more about the activities of the CdLS Foundation, click here.
