Jon’s Adrenoleukodystrophy Journey

I met Jon at the 2018 United Leukodystrophy Foundation Conference and had the privilege of learning his and his family’s story.

Jon was born in Wisconsin in 1992, joining the family of Mr. and Mrs. Kuderer and an older brother who was born in 1987. When Jon was a year old, his family received news that would impact all of their lives dramatically. Jon’s older brother was diagnosed with adrenoleukodystrophy.

In the early 90s not a lot was known about the condition. The symptoms, some of which are behavioral, are very difficult to identify even today.

Children with the condition may begin to act distracted or disruptive and are sometimes misdiagnosed with ADHD. Jon’s brother’s symptoms were subtle enough that they did not raise any red flags for the family, who were unaware of the genetic risk, until he began to lose some abilities and his vision deteriorated to the point where he was walking into walls.

By the time he was diagnosed, the disease was progressing rapidly. Sadly, within 2-3 months he was entirely unresponsive.

After his brother was diagnosed, one-year-old Jon was administered a blood test to see if he also had the disease. He tested positive.

Now that they knew the dangers, Jon received MRIs every 6 months throughout his childhood to check his brain for evidence of damage in order to catch the earliest onset of the disease.

Affected boys tend to develop symptoms between ages 5 and 9.  Jon was no exception. At age six, damage was just beginning to appear in Jon’s brain. The disease’s progression in brain matter is scored with numbers to quantify the amount of damage. Jon had a low score of one, which indicated that he had experienced minimal damage.

His family waited another six months until the next scan with baited breath. His score was then a two. While still low, the evidence of progression coupled with how quickly the family had seen his brother deteriorate prompted the family to take action.

Bone marrow transplants were considered highly experimental, but the risk, given the alternative, was worth it to the Kuderers.

Unfortunately, BMT is not a viable option for many who have ALD because it’s difficult to define who is symptomatic. By the time many kids are correctly diagnosed with ALD their score measuring brain matter damage is so high that not only do they have a lower chance at surviving the transplant, but even if they do it is unlikely they would regain much of what they had already lost.

Had it not been for his brother, Jon would have progressed too far to participate. Jon is an avid supporter of newborn screening for this reason. Newborn screening has the potential to alert families early to ALD, before symptoms develop.

At the time of his transplant, Jon was only six years old. Though things were explained to him, he never imagined that he could end up like his older sibling, who, for as long as he could remember, was in a vegetative state. He was not as scared as others in his shoes may have been because he was no stranger to the medical world. He had grown up with his brother in a hospital bed in their home, with a heart monitor. It all felt normal to him.

The family flew to Minnesota for the transplant. Jon remembers some of the chemo and radiation sessions that led up to the procedure. He has memories of his head being secured, a lead plate to protect his brain, while his body received radiation. He watched Space Jam on VHS, occasionally falling asleep. After chemo sessions, he would receive a toy.

The treatments prior to the transplant left him feeling very weak. He essentially had no immune system and had to wear a mask when he was in public.

He thought the transplant itself was just another doctor’s appointment.

Jon had an international donor from Germany. It was a 6 out of 6 match (today there are 8 criteria for matching donors to patients in order to lesson chances of rejection).

Recovery involved a long three to four months in the hospital. There is a one hundred day mark for transplant recipients based on the lifespan of a blood cell. By the one hundred day mark, it is hoped that your new cells have been created and you can go home.

After his transplant, Jon had appointments once a year at his transplant facility. He was healthy enough that his family felt comfortable stopping those in 2001.

Throughout grade school, he was able to play sports and keep up with his peers.

Today, he is still relatively healthy. He does still live with adrenal insufficiency (Addison’s disease) and has been on medication for that since the age one. He was also diagnosed with hypothyroidism at the age of thirteen, and will be dependent on medication for it for the rest of his life.

 

He is grateful that throughout his medically complex childhood, his doctors and parents talked to him frankly about his conditions and included him in those conversations and decisions.

He has established a new healthcare team in his new state, but, as he has for much of his life, he independently handles all his day-to-day care. He manages his thyroid issues and Addison’s disease, including stress dosing (Increasing dosing when the body is stressed, ie, sports games, fevers, etc. to imitate the extra adrenaline it would create in those situations).

Some aspects of his health are unfortunately out of his hands. He doesn’t know if he will eventually develop adrenomyeloneuropathy (AMN), but is comforted by the knowledge that onset is not nearly as sudden as the symptoms of ALD are. Jon was not able to receive vaccinations because of the transplant so he, like many other rare patients who are immunocompromised or immune deficient, rely on “herd immunity”.  If those who are able to receive vaccines are immunized, they will protect their peers who cannot be.

Despite everything that has been thrown at him, Jon has not let his conditions hold him back. Jon received a degree in engineering in 2016 from the Milwaukee School of Engineering. He is living on his own in Phoenix, Arizona.

He works as a mechanical engineer, designing higher education campuses and medical facilities, many of which reflect the same hospital rooms where his bone marrow transplant was performed. In his free time, he is involved in theater and stand-up comedy.

About a year ago Jon began joining some ALD Facebook groups to get in touch with the community, which he had been a little distanced from after his brother passed away in 2003. He posted about his BMT and hoped to be able to give back somehow to families in similar situations. He is now in contact with another BMT recipient who had their procedure about three years after Jon did.

Jon has happily spoken with all who have reached out to him. You can contact Jon at Jon.kuderer@gmail.com.


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