The Moth Presents Amy Cohen: Fighting Chance

“I do not feel unfortunate.”

Confronting an overwhelming genetic predisposition for breast cancer, a comedy writer makes the ultimate choice.

Amy Cohen is the author of The New York Times best-seller The Late Bloomer’s Revolution. She’s been both a writer and producer for the sitcoms Caroline in the City and Spin City, wrote a dating column for the New York Observer, and was the dating correspondent for cable TV’s New York Central. Amy lives in New York City.

The story of a Noonan syndrome family.

My name is Donna and I am mother to 3 wonderful children: Frankie 8, Alex 7, and Lil Pat 4. My husband Pat and I had never heard anything about NS until Lil Pat was born. He has pulmonary stenosis, developmental delay, poor muscle tone, feeding issues at birth, enlarged ventricles in the brain, short stature, and for our Christmas present last year he started having seizures – daily. He has 4 – 10 seizures daily and he will not grow out of them. They are very hard to control with medicine. We are looking towards surgery hopefully in the spring to reduce the number of seizures a day.

At the time Lil Pat was born we had started to notice Alex’s severe speech problem and behavioral problems also began. His speech has since progressed so far that he barely qualifies for services through the school. He has some reading issues but like everything else he works very hard to overcome them. He and Lil Pat started growth hormones 2 weeks ago for short stature. At the time of Lil Pat’s diagnosis of NS, we were put in touch with [...] continue the story

Overcoming an Obstacle – RDEB-H

Bruce Gunn

During high school, my classmates were getting ready to take their driving tests and permits. I really wasn’t focused on that during high school and I knew I wasn’t ready. I have Recessive Dystrophic Epidermolysis Bullosa – Herlitz (RDEB-H) and there are a lot of things I wasn’t able to do. My special education teacher said encouragingly that I would be able to drive one of these days and have a car well-equipped with my needs.

It wasn’t until a couple of years later when I was working in a workshop for a non-profit agency for mentally and physically handicapped adults that I finally fulfilled this goal. Being able to drive was a requirement to work outside the workshop and have an opportunity for full time employment. Therefore, I took it on myself to ask a case worker to start the paperwork process to get my first step toward independence.

I knew my dad wouldn’t be able to teach me how to drive because I saw what my two older brothers and twin sister went through and I needed someone with a bit more patience than my dad! In the beginning, my parents had some doubts about whether or not I [...] continue the story

CdLS Story – Zackery

At the routine 20 week ultrasound, my son Zackery, was not cooperating so they ordered one for the 28th week. The doctor came in and said that the right arm looked like it was winged and that we needed to go for a 4D ultrasound. At 31 weeks we had it done and found out that not only was his right arm was not normal, but he also had heart problems and was small in size. There was also a blockage in the umbilical cord. We started going for ultrasounds twice a week to check the umbilical cord, and started doing any test we could to see what syndrome he had. All the test come back normal.

But at an ultrasound at the 36th week, we found out that there was barely any flow through the umbilical cord, so they sent me straight to the hospital so they could induce. Zackery was born September 28th. He sounded like a kitten meowing when he cried and he had a head full of hair. He was only 3 lbs 15 oz. They took him to up to NICU for evaluation. Later that day the geneticist came into my hospital room and said [...] continue the story

CdLS Story – Christian

After a high risk pregnancy, Christian was born two minutes before his twin brother Noah on June 17, 2005. They were both born seven weeks premature, and immediately the doctors noticed a concern with Christian. He was small in size (3.5 pounds), hairy for a newborn, and he also had a heart issue called Tetralogy of Fallot.

From the start, every doctor that looked at him had an opinion on his diagnosis: Noonans, Downs, and Noonans again. He seemed to have a few traits of each syndrome but not all of them. For the ones that had a quantifiable test, the results would be negative and other diagnosis was then thrown into the mix.

I was told that a diagnosis is like a label on a shirt. It will only give you the basic information on how to take care of the shirt, but it does not tell you how much you may love wearing it or how comfortable it is. Many times the label would just irritate the neck. I cannot say we were relieved when the geneticist said she thought CdLS, but it did seem to fit. As he grew, we had the usual challenges associated with his diagnosis. [...] continue the story