First posted on Smiles and Duct Tape earlier this month.

 

THIS is ALD #12 — Carter

Originally posted December 1, 2017 on Smiles and Duct Tape.

 

The odds of winning the Powerball lottery are 1 in 175,000,000. The odds of being born with the Adrenoleukodystrophy gene are 1 in 17,000. And yet, everyone has heard of the Powerball, while most people give me a funny look when I share Jack’s diagnosis.

My go-to response is, “It’s that disease from the movie Lorenzio’s Oil.”

When that doesn’t work, I say something like, “It’s a genetic disease that effects the adrenal gland and destroys the myelin in the brain. It’s worse when it starts advancing as a child. That’s what happened to Jack. Yes – he was totally fine until he was eight-years-old and then . . . well, he kinda fell apart. He did have a stem cell transplant and it stopped the disease from progressing, but he lost a lot during that time. He can’t speak anymore and needs help with just about everything – eating, bathing, getting dressed, even walking down the street. He can eat. He does need to be fed and he has a tube in his belly for hydration. Oh, and he also needs a whole lot of medicine to keep him going. Steroids for his Addison’s Disease – did I mention that his adrenal glad doesn’t work? THAT is pretty common with people with ALD. Not everyone, but most. Jack also needs medicine for his seizures. That’s another thing a lot of the boys deal with. I’m not sure about the men with AMN. AMN is what older men with the ALD mutation get — if they get anything. Some men seem fine. And, most women are fine, at least until they’re older. Then they seem to have trouble walking and with their bladder and bowels. Yea, I know that’s scary. I sure don’t want to deal with any of that! Good news is that my mom’s doing well and she has the mutation. Oh, but that doesn’t really mean anything. Not with ALD. ALD doesn’t seem to have a memory when it comes down a family line. Anyway, Jack has Adrenoleukodystrophy.”

As my description demonstrates, ALD doesn’t always look the same. As readers of Smiles and Duct Tape, you know Jack and you know Jack’s ALD, but, there are many phenotypes – Childhood Cerebral, Adolescent Cerebral, Adrenomyeloneuropathy (AMN), Adult Cerebral, Addison Disease only, Carrier’s Syndrome and the lucky few who are completely asymptomatic. There are also several treatments (no cures): dietary therapies, transplant, gene therapy, treatment for adrenal insufficiency. I could show you charts and explain all the science surrounding the disease, but instead I’m going to introduce you to ALD through it’s people. It will be a chance to get to know ALD — our not-so-rare disease.

A couple of times a month I’m going to share a story about someone (or a whole family) with our disease. Don’t worry – you’re still stuck with me posting stories about JackO and our not-so-special family. THIS is ALD will be a little extra treat.

THIS is ALD #2 — Sean Suppan

 One of my ALD stranger-friends (now friend) is Ellen Suppan. She and I met online years ago when her son, Sean, was starting the transplant process. I remember getting off the phone with her almost breathless. Even though our family was two years ahead of them in the process, it was hard for me to imagine what they were going through. Their ALD journey seemed so much more complicated.

She shared their story with University of Minnesota Pediatric Blood and Marrow Transplantation Center in 2009. These are her words as Sean was going through transplant:

In 2003, after a lot of doctor visits, we were told that my other son David
had ALD. He was 7. I had no family history, but it has to start somewhere.
Back then, there was nothing we could do for him. Within 3 months, he was
in a bedridden state, and then went to a vegetative state, and he was like that
for 4 years. David passed away in October 2006. We miss him but were
relieved he was no longer hurting.
 
Shortly after David’s diagnosis, I found out that we were expecting and later
learned I was carrying a boy. And yes, he carried the gene, but had a 50/50
chance of not developing symptoms. With Sean, we were very proactive. We
have known since he was born that he has ALD. When Sean was only 3, he
came down with a high fever and we did an MRI, and everything was clear.
We did another MRI 4 months later and there was a spot there. We were
shocked. David was 5 when this happened.
 
My main concern was to get Sean where he needed to be. There are good
hospitals. They have done a couple of transplants, but not as many as the
University of Minnesota. The most transplants for ALD have been done here,
pioneered here and they are still working on it.

The downside of going through the transplant is that the chemo may bring
on more advancement. It’s a no-win situation. If I don’t do anything, I have
seen the course it takes. But, we at least know that he will not get to the stage
that my other son had to endure for four years. We are thinking positive.
 
I am thankful and grateful that Dr. Orchard came up with this treatment. It is bittersweet for me. Back in 2003, they did not do transplants for symptomatic
kids like David. The progression with David was very cruel for a parent to
watch. We are doing for Sean what we could not do for David.
 
Don’t expect anything to be normal. It’s a new normal. It’s a new way of
doing things. Be ready. I always keep my gas tank half full, because I don’t
know when I’ll need to go to the hospital. Live in the moment. All the other
things will fit into place.”

 
What isn’t mentioned in this piece is that while the Suppan family was losing their son, David, in the fall of 2006, their daughter Ashling was diagnosed with AML Leukemia (she has just celebrated 11 years in remission). They were still mourning David as they went through treatment with Ashling and were diligently monitoring Sean. Then, as Ashling was enjoying life after her treatment, it was time for Sean’s transplant. Ellen shared with me that she missed her daughter’s high school graduation because she was in Minnesota with Sean recovering from his transplant. ALD often steals a lot from a family.

Eight years after our first correspondence, I finally had the pleasure of meeting Ellen, her husband David and Sean in person. I tried not to, but I couldn’t help but watch Sean closely and compare him to Jack. Sean has the same engaging bright smile and is eager to be part of the conversation. He is able to speak and to the untrained eye appears very typical. I did see a few hints of ALD, but needed to ask Ellen for specifics.

Ellen shared that following transplant they were most concerned about Sean’s vision, but gradually it seemed to improve. He does have difficulty processing new surroundings and has issues with his depth perception. Other challenges include short term memory problems and some behaviors like making odd noises, chewing on shirt collars (THAT is so Jack) and shrugging his head almost violently. He is able to feed himself, but needs help with other activities of daily living. Sean is currently in the seventh grade and moves between a special needs classroom and a few mainstream classes.
Overall Sean is doing great. The Suppan family is grateful that Sean was able to be monitored closely and received his transplant early. Ellen shared a note she received from his teacher. I think it says it all.

Hi Mrs. Suppan,
I wanted to share with you that Sean is doing terrific. I am so proud of him. Today he came up in front of the class and shared with him things he is thankful for. What an accomplishment for him – we appreciate him everyday and are thankful to know him. Happy Thanksgiving to you and your family.
 
“ . . . we appriciate him every day and are thankful to know him.” THAT is how I feel about Ellen. I hate ALD and the chaos it’s created in our families, but I am honored and grateful to have Ellen as a friend AND to have met Sean. Stay strong little man and I look forward to meeting you again soon – next time with JackO!!

Love, Jess

I’ve been asking people to share their ALD stories saying, “Be honest, include all important details and keep it under 500 words”. As I sit to write Jack’s story, I realize that it’s a very hard assignment . . .

THIS is ALD #1 — JackO

Jack was born in 1998, healthy and strong. He reached all of his milestones easily and was a completely typical child as he started school. He loved his friends and riding his bicycle and he was a talented artist and an eager student.

In the beginning of second grade, Jack began to unravel. He could no longer complete simple tasks, his school work was suffering and he started exhibiting unusual behavior – chewing on his clothing, obsessively touching things, and loosing appropriate boundaries with people. We went to countless doctors and learning specialists. He was diagnosed with ADHD and we tried behavioral techniques and even medication. Nothing worked. More doctors and specialists, but Jack kept slipping away.

Six months into our search for a diagnosis, we finally talked to a neurologist who agreed to an MRI so that we could “rule out” anything serious. On April 30, 2007 Jack had an MRI and our lives changed forever. Jack’s MRI showed signs of significant damage to his brain. Doctors spent the next ten days running tests until they finally confirmed the diagnosis of Adrenoleukodystrophy (ALD).

We were told we had two options. Take Jack home and keep him comfortable as the disease would run it’s corse. He would lose his vision, hearing, ability to speak, swallow, and walk. He would quickly become completely dependent and would likely be dead within a year. Our other option was a stem cell transplant. It would not cure the damage that Jack’s brain had suffered, but it could stop the progression of the disease.

Our family chose hope, and on May 30, 2007 — just one month after his diagnosis, Jack had a stem cell transplant (using the cells from an unrelated cord blood donation). He was in the hospital 79 agonizing days before bringing him home to a very new life. Although the transplant was successful, ALD managed to steal a lot from our boy. Jack could no longer speak or swallow or care for himself — he could barely walk.

It took an incredible team of doctors and nurses and teachers and therapists, but as the months and years followed, Jack was able to regain some of the skills lost during his transplant. Today, he can walk independently and eat solid food, but he still is unable to speak or care for himself. His health is stable, but he does need medication several times a day to survive – for Addison’s Disease and Epilepsy (two more gifts from ALD).

We are not sure what the future holds for Jack, but today he is nineteen-years-old and enjoying a wonderful quality of life. He goes to an incredible school, CPNJ Horizon High School. He has friends and loves music and time with his family. I’ve never met a happier person. He enjoys every minute of his complicated life.

Ten years into this new life and we have finally reached a place of acceptance and are determined to do our part to help the ALD community. Sharing our story, and now sharing other ALD stories, we are hoping to spread the word of the importance of newborn screening while raising awareness of our disease. Together we can change the future of ALD.

For more information about Jack, our family, and ALD, go to www.smilesandducttape.com — the blog and/or Smiles and Duct Tape – the book

Love, Jess

For the past few months, I’ve been asking people to share their Adrenoleukodystrophy (ALD) stories to post on my blog, Smiles and Duct Tape. My goal has been to educate readers on all the different ways that ALD can affect people AND to prove the importance of Newborn Screening for ALD to help change the future of our disease.

The ALD community has been amazing — sharing honest, powerful, sometimes painful, sometimes beautiful pieces, and the stories continue to roll in. I’ve decided that it’s time to make THIS is ALD into it’s own blog.

Hopefully, we will gather so many stories here that it can become a resource for ALD families to find their community and for non-ALD folks to better understand our disease.

Welcome to THIS is ALD (one story at a time), the blog.

Love, Jess

If you have an ALD story, please contact me at jctorrey@mac.com.