Jhoanny’s son Alexander Matthew was born perfectly healthy in 2008.
When Alexander was three, Jhoanny noticed he seemed to be drinking a lot of water and sweating a lot. Since he was her second son, she wondered if she was just comparing the two.
Nonetheless, she brought him to the doctor. The doctor told her there was nothing to worry about. When he turned four, and then five, her concerns persisted, and she pushed for blood work to be done. The blood work came back fine.
Alexander turned six and Jhoanny began to notice some changes in his behavior; he seemed more active and disruptive.
When his first grade teachers began to call home complaining that he was unable to focus, overactive, or sometimes lethargic, Alex’s parents brought him back to the doctors to push for more answers.
They wondered if their son might have ADHD. Then they thought maybe he had diabetes and made an appointment with a pediatric endocrinologist. A week and a half after that appointment Jhoanny received an email from the physician: “It is important that you come in. His tests were normal… but I have some concerns.”
A test called the ACTH test measures adrenal function. Jhoanny had never heard of it until the endocrinologist sat her down and explained that Alex wasn’t diabetic but his ACTH test should have had results around 26 and Alex’s were over 1,000. The doctor explained that it could be a false positive; everything else looked perfect, and Alex was so healthy. They decided to repeat the test and since they already had to poke him and Alex didn’t tend to complain about needles, they decided to also run a test to measure his long chain fatty acids. Jhoanny was told to expect a call the following week.
The endocrinologist called and said, “I think we’ve found something.” An appointment had already been set up for Alex with another physician.
The family went to the next appointment, this time with a specialist in metabolic medicine. The doctor told the family that Alex had a condition called adrenoleukodystrophy (ALD). They had never heard of it before. The doctor handed them a print out from the NIH and somberly let them know that ALD was very rare, and that there was no cure.
The only hope she could offer them was: “There’s somebody up north who is doing a research study. Maybe your son will qualify for the trial.”
Jhoanny thinks the doctor did the best that she could. She ordered Alex an MRI and connected the family to people conducting the study. All the family heard at first though, was “rare and no cure”.
“It was hard to hold back the tears”- Jhoanny
The shock of the diagnosis rocked the family. They had expected that, worst case scenario, their healthy little boy would be diagnosed with diabetes, a condition that they could help him manage with a modified diet and lifestyle.
Now, looking back, they understand the subtle symptoms Alex was exhibiting, even at age 3, were probably adrenal failure.
In 2015 the family flew to Minneapolis to meet the team conducting the study, and found that Alex was a candidate for the trial. They decided to move forward with gene therapy.
Alex did great through the chemotherapy. Right after the transplant they stayed in Minneapolis for a little while and then came home with a lot of medication. They went back for checkups; spending three or four days at a time in Minneapolis. Everything looked amazing for a while.
Then, at his one year checkup June 2016, Alex showed signs of demyelination. The family flew back home and had to wait anxiously for the rest of Alex’s test results to come in. When they got the call they were told they had two options.
- Move forward with another transplant, if there is a match
- Let ALD run its course
“It was a really difficult decision for us and today we question it sometimes”-Jhoanny
The family decided on a cord blood transplantation. They went back to Minneapolis in July and were ready to say as long as necessary. The transplant took place that August.
Unfortunately, Alex developed a rare fungal infection. It is still unknown if the infection kept his body from taking the transplant or the other way around. He underwent multiple surgeries. He had fluid accumulating around his heart and his bile ducts became blocked.
“I’ve never seen anyone survive with that much going on but he did for a month. Nobody could believe how great his attitude was the whole time.”- Jhoanny
The family had another hard decision to make.
They asked themselves, should they do another cord blood transplant? They didn’t have enough time to wait for immature cells to engraft (grow and multiply) to make the treatment effective.
Should they give Alex rescue cells that were taken before his transplant? They were ALD cells, and there weren’t really enough of them.
Or should they do a transplant with a donor who was only a 50% match?
Alex was receiving white blood cells every day, which kept him alive in the meantime.
To this day, Jhoanny is moved to think of a stranger waking up early and coming to the hospital to donate to a little boy they didn’t know, keeping her son alive.
Alex’s parents decided his best chance was the half match transplant with his father as the donor. Alex engrafted but was quickly transferred to the ICU. His lungs were weak, his kidneys were failing, and he was struggling to fight multiple infections.
His body was just too weak from everything that it had been through.
In October 2016, Alex passed away.
Jhoanny reflected about his time in the hospital, and his incredible spirit throughout the arduous journey.
“He didn’t complain once, from poking and tests, MRIs, whole days full of doctors. He was always happy. I remember the day he had surgery and was just coming out of anesthesia and he started singing to the nurses. A Drake song. I didn’t know it, had to ask the nurses.”-Jhoanny
She keeps in mind that children with rare diseases are never just what is on their charts; what is written on paper.
“There wasn’t a kid in the hospital who didn’t have an incredible attitude. They teach you. Alex would blow kisses to the nurses.” –Jhoanny
Through their grief they couldn’t help think of all the what-ifs.
“What if he had gotten a diagnosis earlier? Maybe if I had pushed a little more thing would have been different.” -Jhoanny
Jhoanny thought of the other families that might be in her shoes just a few years prior. Isolated, shocked, and overwhelmed.
“I had nobody to turn to. I had never heard of the disease.” –Jhoanny
She thought of the people who may have it worse than her family did, and she decided to become an advocate, not just for ALD but the entire rare community.
Click here for Part 2 to learn how Jhoanny and her family devoted themselves to advocacy after Alex’s passing, in his memory.
