Tag: Orphan Disease

It is with a heavy heart that I write the first blog of the week.

Yesterday, my family suffered a great loss. My cousin Emily passed away due to complications linked to Rett Syndrome. Emily was 20 years young.

I only had the opportunity to meet Emily in person once. She was a beautiful, healthy baby. She was diagnosed with Rett Syndrome sometime around her first birthday.

With family being spread out across the globe we stay connected via social media. Emily’s loving mother, father and brother did a wonderful job of sharing Emily with the rest of the world. . Emily’s loving mother, father and brother did a wonderful job of sharing Emily with the rest of the world. We were able to watch her grow and blossom into a beautiful young woman.

What is Rett Syndrome?

Rett Syndrome is an X-linked, severe neurodevelopmental disorder which almost exclusively affects girls. It is characterized by developmental delays, severe problems with learning, communication, and motor functions. In later stages, children with Rett syndrome develop breathing abnormalities, seizures, scoliosis, and sleep disturbances.

Frequency of Rett Syndrome is ~1:8500-1:10000 live births worldwide and usually manifests at 6-8 months of age. The cause of Rett syndrome is loss-of-function mutations in the X-linked methyl-CpG binding protein (MeCP2). These mutations result in a protein that acts as a transcription regulator. This protein is highly expressed in neurons.

In >99% of people with this disease, there is no history of the disorder in their family. Many of these cases result from de novo mutations in the MeCP2 gene.

Currently, there are no effective treatments for Rett Syndrome and treatments are only aimed toward alleviating symptoms of the disease.

Rett Syndrome impacts mostly girls. Girls have two X chromosomes, one with the disrupted gene and one with the healthy gene. Having some healthy MeCP2 protein allows girls to survive. However, it also results in severe impairment that comes with Rett.

Emily stopped developing when she was about one year old. Her physical growth did not stop. I do not want to try to explain what difficulties Emily had, what she could or could not do. If you have been around a one-year-old, you can imagine the challenges Emily and her family faced.

I also lack the insight to explain the numerous surgeries Emily underwent. She faced countless procedures. There were hundreds, if not thousands, of nights Emily spent in the hospital.

Emily was blessed by having a mother, father, brother, aunts, uncles, cousins, and grandparents near by. They made sure Emily received the 24 x 7 care she required. They also ensured she felt nothing but love.

Over time, a dedicated group of doctors, nurses, and professional caretakers formed. Teachers and support staff also joined them. They provided the care and nurturing Emily needed. This support went beyond the love Emily’s family was able to provide.

Rett Syndrome is an orphan disease. An orphan disease lacks attention, resources, and research because it is so rare. Lack of funds creates challenges in discovering cures. It also makes it difficult to improve treatments. Moreover, it hampers efforts to better aid families with the care their family needs.

I do not want to diminish what is being done. Good people are doing remarkable things. It is just not enough.

During this holiday season, sit with your family. Remember how blessed you are to enjoy each other’s company. Share health and happiness.

Then if you can, please consider donating to the International Rett Syndrome Foundation.

This holiday season your family will be watched over by a new and incredibly special angel. Emily.

http://www.rettsyndrome.org