July Alexander Disease Featured Fighter

written by Mark and Katie Drakeley

Aidan Drakeley was born in July 2004.  Prior to his birth we were informed by his doctors that he suffered from unilateral renal agenesis.   He would be born with a single kidney.  It is not a particularly rare occurrence but his was complicated by a reflux issue which placed his kidney at risk from infection.  Fortunately for Aidan we live in Bucks County PA just outside of Philadelphia and he received treatment at Children's Hospital of Philadelphia. (CHOP).  Aidan had a normal childhood with only minor health issues.  He was diagnosed with  Kyphoscoliosis when he about 13.  Again, he was seen at CHOP and received excellent care.   

On March 25, 2019, Aidan woke up not feeling a bit under the weather but he went to school.  Two hours later we received a phone call from the school nurse that he had a high fever and was weak.  We brought him home, tremoring and freezing cold.  Thinking he just had a virus we tended to his fever, which went on for a couple of days before he began to experience double vision and was unable to walk or stand and couldn't feel below his waist.  We initially took him to a local hospital; however, due to the extreme neurological symptoms, within two hours the local hospital had him transferred by ambulance to CHOP.  He was suffering from an unknown infection and developed hydrocephalus.  A full workup of MRI and blood work were performed.  Lesions on the brain were discovered and his kidney function was compromised with the appearance of cysts.  He was hospitalized for 10 days and released without a confirmed diagnosis, though at daily rounds his doctors puzzled over his initial presentation.  Over the next 5 months Aidan went through physical therapy and many neurology and nephrology follow up appointments.  Aidan was truly amazing throughout all of these difficulties.  He was so strong, patient and determined.  He was experiencing so many physical challenges - difficulty walking, low stamina, fatigue.  He also had been vomiting out of the blue, even though he did not feel sick.  He would fall asleep every day after school for hours.   Finally, his doctors knew something was not right and that there was more to his medical problems than just having had a serious kidney infection.  They decided to do a full genetic and family medical history along with bloodwork and another MRI.  His neurologist then informed us that, based on the presentation of white matter in his brain that they saw on the MRI, they suspected a type of Leukodystrophy.  We had never heard of this and prayed it was something else less serious.  However, it was through the subsequent extensive genetic testing and family history that Aidan's doctors at CHOP confirmed their suspicions:  Aidan had Alexander Disease.  This positive diagnosis occurred a month after Aidan's 15th birthday, in late August 2019.  It was a difficult day for us learning about this rare but serious disease, but Aidan's doctors at CHOP were wonderful and they helped answer all of our questions as we embarked on this new path with our son.  We now had an explanation for so many things he had been experiencing, even a year or two. prior.  Looking back over his life his muscular issues and Kyphoscoliosis now made sense. 

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.