Meet Hailey
Hailey was born perfectly healthy. She was such a beautiful baby, and was hitting all her infant milestones like rolling over and sitting up early. When she turned nine months old she suddenly changed. She began staring, had terrible constipation, wouldn't sleep more than 2 hours at a time, and was starting to fall over when she sat up . I was concerned and at her next pediatric appointment I told her doctor her symptoms. Her pediatrician thought I was just a nervous first time mom, and brushed it off.
Things continued to get worse. Hailey was refusing to eat, couldn't suck from a bottle or sippy cup, and she
was losing weight. At 13 months she had her first grand mal seizure, it was 20 minutes long .At the ER they said it a febrile seizure and thought it must have only seemed like 20 minutes. She was given antibiotics for a double ear infection and released. She continued to have seizures, failure to thrive, constipation that didn't respond to medication, and still didn't sleep well. At 16 months she finally took her first steps, but would fall all the time. She was behind in her speech, and was missing milestones. At 23 months Hailey had a 90 minute seizure at home and was airlifted to a children's hospital an hour away. They did a brain MRI, blood tests , and told me she was fine. I later learned that first MRI at 23 months was indicative of Alexander disease, but was missed as simply immature white matter. We were send home again, without answers. This continued for years. At age 5 she was diagnosed with epilepsy and put on antiepileptic medications. I knew something more was going on in her body besides epilepsy. She had learning disabilities, couldn't walk far, she had an abnormally big head, speech delays, failure to thrive, she wasn't like other kids her age. She was five old and this is the first time doctors brought up the word leukodystrophy . They tested her for every leukodystrophy she fit the description of, but all tests were negative. We were about to give up our search for answers. At age 6 Hailey had a new , young determined neurologist in St. Louis. He asked me if Hailey could participate in a study on children with epilepsy, which included a brain MRI. I agreed. He also wanted to test her for Alexander disease. The day after the MRI the neurologist called us and asked if we could come in immediately. He recognized on the images the characteristics of Alexander disease. We waited 6 weeks for the genetic testing to come back, it confirmed the diagnosis.
I was absolutely gutted at the news. I was in total shock. I began searching online for any information I could get. I found the United leukodystrophy foundation and contacted them immediately. They were having their first Alexander disease conference in a few months in Chicago and invited us to attend. It was in 2008, and families with Alexander disease came from all over the world to attend. I met Dr. Albee Messing there, and saw how dedicated his research to Alexander disease was. It gave me hope that one day a treatment would be found. I stayed in contact with Dr. Messing through the years, as well as the families I met at the conference. We connected through emails, then eventually social media where we created a support group for families affected by Alexander disease. Families began a grassroots effort to raise money for research, we shared our stories to raise awareness.
Hailey was six years old when she got the diagnosis. She continued to attend school, with the help of an aid ,and this May at age 20 graduated from high school. Hailey loves to draw in her sketchbook, enjoys watching cooking shows, and wants to be a chef when she grows up. She has quite a collection of Barbie dolls, loves the color pink, shopping , and trying new restaurants.
Hailey has significant learning disabilities, struggles to walk, and her speech is difficult to understand so life can be challenging. A treatment could mean Hailey could stay stable, or perhaps it might get her walking better and not need her wheelchair. I believe it will happen, and increase her quality of life. Aidan suffers from ataxia and has stamina issues when standing and walking. He is very aware of his diagnosis and chooses to fight the disease and its daily manifestations. None of this deters his spirit. He does not define himself by this disease, he says it is nothing more than another trait.
We are blessed that, as of now, Aidan is a highly functional patient that receives the best care from Dr. Amy Waldman and her team at CHOP. Living so close is a blessing. Aidan was able to get his driver's license after special testing and is independent. He is currently a high school student entering his senior year at Lansdale Catholic High School. He has a great group of friends who help him and understand his limitations. He recently went to the Junior Prom and loves to attend social events with friends. He likes Science, and he plans to attend college and study Psychology, but would like to attend a college that is not too far from CHOP. Aidan has been an inspiration to us throughout the past two years since his diagnosis. His strength and endurance have been truly amazing, and he just never gives up! He also has a great sense of humor, which helps.
We are at the beginning of our journey with Alexander Disease and honestly are still processing what it means. Aidan has three loving older siblings who treat him as one would expect the youngest of four to be treated. Aidan's hope is to be able to participate in the trial. He participated in the natural history study coordinated by Dr. Waldman at CHOP. He holds out hope for a treatment for all and eventually a cure. We pray daily for all of those afflicted and the families dealing with the daily struggle.
shared by Hailey’s mom Dawn
