On becoming a “patient-like-me” in Europe

Àngel talks about his diagnosis with a rare disease and how social media helped him cope.

Angel Gonzalez September 17, 2011

The immense love between parents and their child

My husband Tim and I first experienced the immense love between parents and their child when our daughter Gracie was born on January 11, 2005. She was our first child and allowed us to experience all the amazing firsts of being a parent.

Gracie has always been funny and the type of kid that captures your heart. As her mom, I have always felt she was special and strong. I never imagined that we would face cancer with her – I guess no parent does.

A few months before Gracie’s 3rd birthday, she began to limp slightly. I took her to the pediatrician thinking I was probably playing the overly cautious parent. The pediatrician thought maybe Gracie had sprained something while playing and instructed us to keep an eye on her. About a week later, the white of Gracie’s eyes began to have yellow tint. I took her back to the pediatrician, who seemed a bit more concerned. We were sent for blood work and an ultrasound of Gracie’s abdomen. The pediatrician’s phone call the morning after the ultrasound revealed that Gracie had a tumor growing from her bile duct into her liver. The feelings that followed that phone call cannot be [...] continue the story

Briley Mae – CdLS

I would like to share with you today the story of my daughter Briley. Three years ago, I learned I was pregnant and was full of joy. I wondered, what color eyes will my baby will have? Will it be a boy or girl? Will it look like me?

I didn’t think about the “what if’s” like what if my baby has Down Syndrome or another kind of genetic abnormality. I just expected to have a healthy child. During a routine checkup at the four month mark, we were stunned to discover that our baby was not developing normally.

After I went through three amniocentesis to check for chromosome development, we knew our baby was in serious trouble. Our doctors sent me to Presbyterian Saint Luke’s Hospital in Denver to deliver where we received the news that our baby might not be able to breathe after she was delivered and that she may have heart defects, intestinal abnormalities, or fluid in the brain. God was with us that day because Briley came out screaming! She was born with a good set of lungs! It was then that we learned that Briley had Cornelia De Lange Syndrome.

Briley was born with a cleft palate, [...] continue the story

Kristin

Have you ever eaten way too much and gained a few pounds? Or come across a child unwilling to eat their vegetables or are just too picky about their food? I have two words to say…“I WISH!”

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a relentless disease that does not stop at just compromising the skin. Sadly, it also affects mucosal membranes like the mouth, throat and esophagus which makes eating and EVEN drinking a chore. Eating is a distant memory for me as well as the anticipation of savoring my mom’s dinners, as the delicious aroma fills the house.

Food has always been an important part of my life. As a baby, an eye dropper was often used because sucking was just too painful for my raw, blistered tongue and mouth. As a young girl, I remember sitting for hours on the couch with my mom playing the tasting game. Wiling away the time when stricken with corneal abrasions, delighting in sampling the tiny morsels of food that she took the time to prepare and arrange. The g-tube saved my life at age nine weighing in at 42 pounds but swallowing struggles progressed. Who ever thought that a pureed breaded pork chop, [...] continue the story

Cooper’s Story

We knew something was wrong during our first trimester they suspected either dwarfism or Down syndrome. We had the amniocentesis done and everything came back normal so the figured some kind of dwarfism. They told us in so many words without actually saying it (abortion) that there was other options and that was a definite no for us.

Then I was carrying to much amniotic fluid so we had to go to the hospital so they could do a reduction of amniotic fluid. That day I was having contractions and didn’t even know it and I was only around 26 weeks. About a week and ½ later my amniotic fluid started to slowly leak so they flew me about 100 miles to Sioux Falls. They gave me medicine to stop the contractions again and I was on bed rest for the next 17 days.

Cooper was born at 32 weeks and he was 5lb. 4 oz and was 17in. long. They rushed him off and after about 4 hours we got to see him. He was on the ventilator and IV’s. They said he probably has some kind of syndrome and that his liver and spleen were enlarged. The geneticist sent off [...] continue the story