Battling cerebral ALD with Will-power!

Our son, William is currently battling a horrible genetic disease called Cerebral adrenoleukodystrophy (CALD).  His fight began when he was only 18 months old, but we didn't know it at the time as he was not properly diagnosed until soon after he turned 8 years old.  



Will was born to two loving parents, who were overjoyed to welcome their first born into their lives.  Mom, a math teacher at her alma mater high school; and dad a police officer.  We had many of the ups and downs of new parents, the worrying, the sleeplessness, but as all fellow parents know; you learn to adapt. 




One trouble seemed to never be answered, starting when he was 18 months old, when he would get sick, he got really sick!  Will was frequently hospitalized and while he always managed to recover, each time it got worse and worse translating into longer hospital stays.



Luckily for Will, his grandmother is a retired nurse (who still acts as if she's on the job).  She never accepted the "unknown" as to why William would be hospitalized with vomiting spells, so she continued to look for answers.  William had been examined by 3 separate hospitals, countless doctors, and they all got it wrong!  It was his grandmother who properly diagnosed him by looking at his skin.  That's right, his skin!  In a family of Irish and German ancestry, Will had an uncharacteristic tan complexion.  Back when he was toddler, his grandmother believed it could be Addison's Disease, which frequently causes hyper-pigmentation. 




We hit a bit of bad luck with Will's pediatrician when we  had her order lab work to definitively determine if he had Addison's Disease .  After the blood tests came back, she said he didn't have it and nothing else appeared abnormal.  Not a month later Will was sick and in the hospital again, on the verge of having his kidneys shut down, and finally one doctor agreed that this wasn't normal and sent him to see an endocrinologist once he was stabilized.



This is the point of the story where grandmom gets proven right, and Will goes from bad news to worse news, and that is actually a blessing in disguise!

Dr. Evan Graber of A.I. Dupont Hospital met Will and with a quick blood test diagnosed Will in February 2018 with Addison's Disease.  Addison's Disease (also known as adrenal insufficiency) meant that Will's adrenal glands were not producing certain hormones and his prior frequent hospitalizations were examples of adrenal crisis which all could have kill him since they were not identified correctly!  William was placed on a lifelong steroid treatment and expected to be able to live a normal life so long as it was managed correctly.
We learned that Will's (now prior) pediatrician had not ordered the right test and that was why his diagnosis was overlooked. 

As parents, we learned our new routine, making sure he got his medication on time and was always around a parent or school nurse who could give him an emergency injection if he fell into another crisis. 

Just when we thought we got the hang of it and his hormone levels stabilized, Dr. Graber did what all doctor's should do, continue to dig!  Even though most causes of Addison's Disease are autoimmune (body attacking itself), Dr. Graber wanted to know why his white blood cell count wasn't up so he ordered a special blood test to rule out a rare possibility (ALD).

Will was then tested for this rare cause of Addison's Disease, and we discovered that he had Adrenoleukodystrophy (ALD) in August 2018.  We learned that the Addison's Disease was just a manifestation of his ALD and that he would need frequent MRI's of the brain to determine if the disease was progressing into CALD.  Even if William never progressed into the deadly childhood form of CALD , odds were that he would have mobility challenges into adulthood.

Fear is something our family can fully explain, its the sense of doom with no hope.  That is how his family felt leading up to Will's first MRI.  If the MRI revealed that the ALD had already begun damage to his brain, the prognosis was horrible.  To define horrible, his brain would quickly be destroyed leading to incapacitation followed by a vegetative state prior to death (usually within 5 years).  This disease can cause great damage to the brain well before symptoms appear.  If there is more than minimal damage there is no treatment that would be undertook.

We were blessed that his first MRI showed that he had no signs of the progression of the disease.  We would have to learn to live with the fear and know that in six months we would have to check again.  We met with a great specialist, Dr. S. Ali Fatemi at the Kennedy Krieger Institute in Baltimore Maryland.  He specializes in ALD patients, and he highlighted that since William was identified early, his chances were good if he needed treatment.



In February 2019, his follow up MRI showed that he had a new brain lesion, and so William had the worst form of ALD, cerebral ALD.  Our nightmares were real, and we all would have to fight for his life.

Fortunately, Dr. Fatemi had already planned for the possibility and we took William to Boston.  A collaborative study between Boston's Children's Hospital and Massachusetts General Hospital was taking place in which a clinical trail of young boys with cerebral ALD were undergoing gene therapy to stop the progression of the disease. 

In March 2019, William went through a week of tests in Boston to see if he would be eligible for the clinical trial treatment.  Afterwards, we found out that he was not considered eligible at this time.  The consensus was to wait another three months and see how the disease was progressing.  This had its own challenges, for as parents we felt as if we were just sitting waiting for a bomb to go off and allowing a head-start for the disease to take over our son's brain.  We kept worrying that even if his condition changed and he would be eligible, that the small study might be closed by that time.



In June 2019 we traveled back up to Boston and went through another week of tests to see if William was eligible.  This time there was agreement that his lesion was advancing and Boston agreed to accept him into the clinical trial.



Treatment for cerebral ALD is a bone marrow transplant, similar to patients suffering from Leukemia.  For reasons not completely understood by doctors and scientists, after a bone marrow transplant, the progression of brain lesions halt.  It wouldn't repair any damage already done, but it would save his life.
This cutting edge clinical trial would extract William's own stem cells from his bone marrow.  Then in a lab, the cells would be genetically modified to incorporate a corrected ABCD1 gene (the gene responsible for ALD).  Once the cells were modified, William would undergo chemotherapy to destroy his own bone marrow and make room for the donation.  William would then receive his own genetically modified cells as his donor.  With the help of lots of doctors and scientists, he would become his own life saving donor!




As if our family wasn't facing enough battles, William's father was unjustly fired in July (actually on William's 9th Birthday of all days) from his job as a police officer with the Rehoboth Beach Police Department.  He had loyally served as a Senior Corporal with the Police Department for the past 12 years!  As you can imagine, this brings about further challenges while trying to keep our main focus on saving our son's life.




We hope William and his family's story is one of hope that others can receive strength from.  Life is not a scripted story, everyone has their own challenges.  We try and focus on positive points in our life, like our loving supportive family and friends.  We also are so thankful for all of the medical experts, from Baltimore to Boston that have continued to play a part in saving William's life. 



Any funds we receive will go towards William's medical bills and continued support as his treatment progresses.  In addition to giving financially, please help support kids like William by promoting vaccinations and also think of donating blood platelets!  Vaccinations help not only yourself and your family, but through the herd immunity that it provides, it helps protect people like William that will be immunocompromised and unable to defend themselves like you and I can.  Donating blood platelets takes a bit longer than donating blood, but you can do it more often and its lifesaving to kids (and adults) who undergo chemotherapy.

Thank you and God bless!




If your interested in the science of the treatment, here is a link to watch the PBS Nova program featuring the team and science (fast forward to 32:35) Nova program