Celeste S. - Quilt Finished in 2007

Born: August 19, 1999

Illness: Canavan Disease, Epilepsy, Respiratory concerns

Celeste's Story

Written by Celeste's mom Theresa in 2007

My princess Celeste came into the world on the morning of August 19th, 1999. She was a big girl at 8lbs 11oz. My pregnancy was uneventful and normal, as was her birth. We started having concerns about her development almost immediately.

Celeste never hit any of the typical baby milestones and she was a very irritable baby, crying inconsolably almost constantly. When she was about 5 months old and still not making eye contact or holding up her head, I took her to a developmental clinic to have her evaluated. I walked out of there in shock... I had no idea that her delays were so global and so severe. We started physical and occupational therapy for Celeste right away and got about a million specialist appointments to try to figure out what was going on. About 2 months later came the even more devastating news; Celeste had Canavan’s Disease, a rare degenerative neurological disease caused by a deficiency of the enzyme aspartoacylase (ASPA), which leads to the buildup of N-acetylaspartic acid (NAA) in the brain. The accumulated NAA causes a chemical imbalance that destroys the myelin, causing the white matter of the brain to deteriorate. Practically what this meant was that Celeste would never walk or talk, let alone sit up independently or hold up her own head. She would have health problems her whole life and as she got older she would loose the few skills she struggled to gain. She would be completely dependent on us to care for her every need, essentially a prisoner to her body. The worst part of all of this was that her life expectancy was significantly shortened, we would be lucky to make it to her 10th birthday.

The first few months after the diagnosis were really hard. Celeste started having difficulty eating around her 1st birthday and had a feeding tube placed when she was 18 months old. She started having seizures around this time as well. She had frequent hospital stays until we got her seizures under control. Once the seizures were being managed, we began trying to find a way to help her with her muscle tone. She was very spastic, or stiff, and it was making her uncomfortable pretty much all the time. Finally through a combo of medication and botox injections we were able to manage her muscle tone and Celeste was much more comfortable. She finally stopped crying! Her personality emerged and we saw what a true joy she was. Thankfully life went back to normal for a while after that. Then around the time she was three, she started having respiratory problems. She would start to wheeze and breathe very heavily, to the point where she was heaving so badly she would become exhausted and she could barely breathe. We were able to get Celeste a nebulizer and medication for home use to help prevent her from getting to that point.

One and a half years ago, when Celeste was 6, our family was blessed with the adoption of our second daughter, Amira, and Celeste got to be a big sister! Amira just adores Celeste. She will climb up on Celeste’s lap in her wheelchair and give her a kiss or sit next to her when Celeste is on the floor. She brings her toys and puts them on her lap and gives Celeste kisses and cuddles whenever she can. It has been wonderful for both girls to have each other.

Despite her many limitations, Celeste lives life to its fullest. She has a wonderful sense of humor and has a smile like sunshine. She loves the simple things like sitting outside on a summer day and feeling the breeze in her hair. She loves to go for walks, listen to the birds outside, swing at the park. She loves music and stories. Her favorite show is American Idol! She understands everything around her and can answer yes and no questions with eye blinks. She listens to books on tape and loves fantasy stories about magic, princesses and unicorns just like any other girl her age. She and loves silly noises like sneezing, shaking or barking, or her little sister giggling. I always know when Amira is into something because I can hear Celeste laughing! Celeste brings so much happiness to all of our lives. She is such an incredible girl, so expressive and so happy all the time.

Throughout the years, Celeste has had many of the same health concerns she had in her early years, they have just amplified. We still struggle with increasingly difficult to control seizures and respiratory distress. She can no longer tolerate the medications used to stop her wheezing without having a major seizure, so every time she has any breathing issues we end up in the ICU for a couple days. During cold and flu season we walk on eggshells around here! She is on a lot of seizure medication, so she has been having more sleepy days lately. This is how the disease progression has manifested so far in Celeste.

We continue to try and live each day to its fullest, and appreciate all the time we have with Celeste. She has taught us so much! I feel so lucky to be her mother; she is truly my ray of sunshine.