Tag Archives: BMT

HaPpY 14th Transplant Birthday!

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14 Years . . . Day + 5113 . . .

It’s Jack’s 14th Transplant BiRtHdAy!!!! 14 years since he received the magic cells from the Little Lady from Detroit that would stop the progression of ALD and allow us to not just continue enjoying life with Jack, but appreciate his wisdom and strength. He’s the greatest teacher I’ve ever had and I know he’s the same impact on everyone lucky enough to cross his path.

Here are some sweet words from his family about our boy. PLEASE add a comment about what Jack means to you.

He’s got moves like Jagger. – Dan

He’s a loud, silent human. I love my Booger – Anna

In an age where we’re all on our devices, Jack is living in the moment and loving it. – Aunt April

Yesterday is history, tomorrow is a mystery, and the present is the gift Jack gives us. – Love Aunt Darcy (with help for Eleanor Roosevelt)

We all so remember this day 14 years ago when Jack stayed so calm and so brave as the the Little Last from Detroit came into him and started to do her magic. He smiled back at all the people standing and applauding in his room. What wonderful advantage we all have been able to take from that gift. Jack has been our leader and hero every moment of the way. —  Nonno and Mymom

A quiet guy with a big personality. – Uncle Phil

We both always feel so good around Jack and feel his presence and happy demeanor. He is a gift that makes us all better people. — Love, PopPop and Nanna Sue

A man of few words who says a lot especially with his laughs and smiles. – Aunt Kate

Jack is just a light soul and a whole lot of laughter and smiles. He is also a great dance partner. – Other Mother Orla

Jack is engaged. People think not speaking would isolate him, but it sure doesn’t. – Mymom

Absolutely famntastic! The best friend anyone could ask for. Empathetic, funny, charming. – Other Father Peter

As my grandson and my inspiration as a valiant and brave guy always ready to replace difficulties and tragedy with a laugh. – Nonno

Jack is the best human being ever, my inspiration in life! – Other Mother Lilly

Jack is pure love! The most beautiful soul I have ever met. He means kindness, friendship, strength and sensitivity with a resilient heart. Jack is an example of how to live life with grace and joy no matter the adversities. – Other Mother Monica

Jack is an amazing young man who loves a good laugh more than anyone I know! – Uncle Matt

Once upon a time there was “a Iittle girl from Detroit” who would forever change a little boy by the name of Jack Torrey’s life!  Her gift to Jack has inspired so many and has given Jack the opportunity to be the awesome dude he is – a smile like no other and an awesome sense of humor to boot! – Love Aunt Kim

Jack’s journey shows that happiness and love can win. Jack still has the same attachment he always did. — Uncle Pablo

Our family can’t describe in words what Jacko means to us. He has completed our family. We love him so much. — Other Mother Maria and Family

Time is always a odd when it comes to remembering defining milestones. We will never forget that day in room 505, but it feels like both yesterday and a million years ago. We remember every detail of the anxiety and energy and hope and smell (stem cells smell terrible — who knew?) in the room when the life-saving cells went into Jacks’s body. It’s the day that we saved our son’s life with the help of countless doctors and nurses AND a family that donated precious cells, never knowing that they were going to give the gift of Jack to so many.

Thank you to the mother of the Little Lady from Detroit! Your gift didn’t just save Jack’s life, it changed the lives of many!!

Love, Jess

Day +5000 (a post from Dan/Dad)

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Day 5000


Lately I’ve been distracted.  Distracted by the lousy weather outside the window.  The cold.  The grey sky.  The snow piling up… Distracted by the inane MTG politico drama playing out on TV every day and night…  Distracted by work stuff ( I just started a new job this week).  Work can sometimes be a positive and useful distraction – especially when living through the first 12 months of a pandemic (Yes, we are now in our 12th month…).  But at the end of the day, it is still a DISTRACTION.   


Sometimes the only part of the day when things come into focus, when my mind clears, when I shed all the distractions is when I get a giant hug from Jack.  It’s the best part of my day – every day. 

 
Even if you haven’t spent a lot of time with Jack, you know that he is non-verbal.  But you probably can’t fully understand how he communicates most directly and most effectively.  It’s when he gives you a hug.  He is extremely strong.  He will literally squeeze the breath right out of your chest.  It’s the best feeling in the world.  It’s when I regain all perspective — as I squeeze back! 


Today is Day 5000 in the Torrey house.  It’s been 5000 days since Jack received his stem-cell transplant in May 2007.  Since the doctors at Columbia Presbyterian Hospital saved my son’s life.  5000 days of a wonderful life.  5000 days of smiles and belly laughs and hugs and dancing to 70’s tunes.  5000 days of watching him and his baby sister grow up to be adults.  5000 days of “our normal life” with Jack.  


Think about what has happened in your life over the last 5000 days.  It’s hard to grasp all the changes, the good and the bad, the ups and downs,  the mundane and the thrilling, Hell, some days I can barely remember life before COVID.  But Jack and his hugs help me remember what is really important in life.  Not the distractions.  That’s nothing but a lot of noise.


Thank you Jack for being in my life. 


Love,
Dad 

4999 Days

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Day +4999 . . . 

4999 days since Jack received the stem cells that saved his life. 4999 days ago we never could have imaged what our lives would look like now. And if we had, I’m not sure that we would have thought that we could embrace lives that look like this. 

A few days ago incredible members of our ALD community lost their son. It wasn’t ALD that ended the life of this beautiful young man, but an accident. We’ve known many people who have lost loved ones this year. Not ALD, but COVID, cancer, heart attacks. Life is complicated and fragile and we need to appreciate every day. Our family is grateful for the last 4999 days and will treasure each day ahead of us.

I’ve been writing tiny love stories for the last couple of months. The New York Times keeps passing 😏, but I’ll share what I wrote last week. 

I open the door that separates our rooms and look at him lying there. The most beautiful face I’ve ever seen. As if in a trance, I crawl into bed next to him, trying to be careful. His bed is littered with complication. I slowly take his hand and place it between my own. I hold my face against his and I linger over his sour breath. There is always so much I want to tell him and sometimes wonder when we’ll run out of time. Tonight I will just be quiet and enjoy the moment with my beautiful boy. 

4999 days.

Love, Jess

PS Stay tuned — Dan is working on a post for tomorrow.

THIS is ALD #26 – Hutch

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Chelette reached out to me to share her son’s story and I was so impressed with how determined she is as a mother. Many of us ALD moms have been forced to fight with doctors to find the correct diagnosis for our sons. In this family’s story, this mom wasn’t just fighting for her son, she was fighting for answers to other questions in her family’s history. Thank you Chelette for sharing Hutch’s ALD story.

 

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THIS is ALD #26 – Hutch

Our son Hutch was a perfect 9lb. baby. As a child he was kind, bright and athletic! Hutch was the kind of kid who never had to be told twice and never needed to be put in a time out or punished. So when he was nine-years-old and we started seeing changes in behavior and struggles in school, I got concerned. I started telling doctors that something was up, but everyone blamed adolescence.

Hutch had febrile seizures as a child that no one seemed concerned with.  He had a seizure when he was six (almost out of normal range for febrile seizures) so I spoke with a neurologist, but he was not concerned. Then Hutch had another seizure when he was nine, so I saw another neurologist. She actually told me he would never have another seizure and not to worry about anything. This was not believable to me. At every neurologist visit I would always share that my dad had a neurological disorder, but still no one listened to me. They all blamed adolescence. 

My father had some neurological issues that started around age 28. His gait changed and he started to drag his legs while walking. No one was ever able to give him a true diagnosis. They said he had spastic familiar paraparesis, which never felt right to me.  His skin was very dark and he was bald.  By the end of his life, he was wheelchair bound (he could walk, but it was too taxing on him). He died during an angiogram at age 51.

I became so concerned by the time Hutch was nine-years-old, that I took him to see a neuropsychologist, an audiologist, a few neurologists. No one seemed concerned. He had what seemed to be auditory processing disorder and he had attention issues but no hyperactivity so again doctors were not convinced there was anything significantly wrong. Every direction I turned, we could not find an answer. 

In November of 2015, 3 days before his 13th birthday, Hutch had a 90 minute seizure. Yep, that wasn’t a typo, he had a 90 minute seizure … I didn’t think we would see him again. Miraculously he survived and that seizure was an important piece to the puzzle. The hospital we were in didn’t have a pediatric neurologist so they consulted with a pediatric neurologist at Tulane. When we were being discharged, they told us the neurologist had ordered a metabolic evaluation. I knew at that moment we were finally going to get the answers we needed.

Two weeks later we sat in that neurologist office and he spoke those words that we were not prepared to hear. He said our son had Adrenoleukodystrophy, that he would more than likely die within 2 to 4 years, most of which would be in a minimally conscious state, unable to walk, talk, eat, etc.. (he actually used the word vegetative state but I hate that word because people are not vegetables). He said Hutch would most likely die during a seizure and there was nothing that we could do to help or stop the disease as he was too far progressed (spoiler alert, he was wrong about the last part!).

My husband was completely devastated. Oddly, I was still so grateful that Hutch had survived the seizure that finding out we had 2 to 4 more years with him still seemed like a gift. Within a week we were in a geneticist office, he asked what our plans were and we told him that we have been vetting hospitals just to find out more about the disease and what our lives would look like. He pointed us in the direction of the University of Minnesota. He told us they had treated more boys with ALD than anybody in the world. At this point we did not think Hutch was a candidate for transplant based on what the neurologist we met with had told us — thank God he was wrong. 

One thing led to another, and the first week of January 2016 we were consulting with an amazing team of doctors at University of Minnesota to see if our son would be a candidate for a bone marrow transplant. At the end of our time there, they told us that they felt like Hutch would be a candidate. They didn’t know if he’d be able to live an independent life as an adult but they felt like BMT would preserve his physical abilities. We were thrilled AND scared to death!  

Two months later, on March 16, 2016, we moved to Minneapolis for a BMT that took place on March 22.  We lived in the hospital for 40 days and then stayed in Minneapolis for the next 2 months. Hutch did exceptionally well through his transplant and we moved home at the very end on June. Then life got really difficult. 

Hutch‘s case is different than most boys with ALD — his disease started in the front of his brain and there is no damage to the back of his brain. This means he has all of his physical ability still intact, but the front of his brain is profoundly damaged, so he can often look like a traumatic brain injury patient — he is impulsive, often inappropriate, and has no filter.

Anger and rage took over his body once we got home from Minneapolis.  Our girls, who were 15 & 10, had to move out of the house for a while because he was so out of control. Thankfully, better management of his dosing schedule of hydrocortisone, some amazing vitamins and blood pressure medicine worked and little by little we got our life back. 

It took about two years following transplant for us to see a little light at the end of the tunnel, but now Hutch is in school and and loving life. He swam on his high school’s swim team and played golf for his school team also! He needs many accommodations, but he is smarter than he appears on paper. 

We are very grateful for Hutch’s diagnosis, because as hard as it is, it saved his life and it explained all of the issues he was having. With Hutch’s diagnosis we determined that my dad had AMN (adult onset version of ALD) and more than likely died during an angiogram due to undiagnosed adrenal insufficiency.

Our lives are very different than we ever imagined, but also better than we expected following transplant. Because of Hutch is a poor decision maker and struggles to self-regulate, he needs constant supervision. But, he is here and has taught us a lot about life and the dignity of life. ALD took a lot away from us but it also gave us more than we could have ever imagined. 

— Chelette

 

 

THIS is ALD #25 — Grady

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Ten days ago I got a text from a dear friend from MA, “Watching the news on NBC – it’s about newborn screening for ALD.”

I stopped what I was doing, went to the computer and Googled — NBC, MA, ALD and this popped up.

CLICK HERE

I thought, What a great ALD story! I should reach out to this mom. Within a day, we found each other — ALD is a small world (and thanks to social media, it’s getting smaller every day). We exchanged notes on facebook, emailed back and forth, and then spoke on the phone. For me, it’s like talking to an old friend when I find another ALD mom. I asked her tons of questions and let her share and vent. Of corse, I also asked her to please let me share her family’s story on THIS is ALD.

THIS is ALD #25 — Grady

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I thought he had too much wax in his ears. That’s how this started, wax. My boys always have gross waxy ears, no matter how much I clean them. Pretty gross right? I thought Grady couldn’t hear me well because of waxy ears. 

So after about two weeks, I decided to bring Grady to his pediatrician. She checked and they were clear. We proceeded to do a hearing test. He passed. Gut punch #1. 

His pediatrician suggested we follow up with ENT. I asked if it could be neurological. She didn’t think so, everything else was perfect. About an hour after we got home, she called me saying, “You are not an alarmist with the kids, let’s see an ENT today”. 

She got us in and he passed most of the exams. Gut punch #2. I knew something bad was coming. My husband and I took Grady to Boston Children’s Hospital right from the ENT. I felt like we had to push to really get them to listen. Neuro came and did a consult. Grady’s so strong. A crazy NATURAL athlete. How could it be his brain? Physically he checked out perfect. Then, the doctor asked, “What is 3×4…” Grady said, “Football”. Now we were crying. Something was really wrong. 

They came back and said they felt he was fine to go home, and out came Mama Bear. We told them we did not feel comfortable bringing him home. Twice. We told them SOMETHING is wrong with our son. I begged to scan him then. Sobbing. They felt a scan could wait and would book it in the weeks to come. 

So we went home. Sick to our stomachs. 

The next morning I woke up, called the pediatrician, and told them that I was bringing Grady back to Children’s and I wasn’t leaving until they scanned him. Long story short, a few frustrating hours later, they did. Gut punch #3…….and the death of the “old me”

They told us that they believe that Grady had ALD. What the hell is ALD?!? I Googled it, alone in the “quiet room” after an ER doctor told me not to. Google was obviously lying because there was no WAY my football and basketball obsessed boy was going to die in 1-5 years — slowly deteriorating to vegetive state, to death. No way. Someone was was wrong, and they wanted me to call my husband and tell him this?? Part of me died then. 

We lived 5 days — well not lived, we walked around somehow and tried to take care of the kids, while in the back of our minds we were thinking about losing our son. Then, we met Dr Eichler and Catie Becker. Two angles who told us that we would not lose Grady. With a Loes score of 10, they felt that perhaps Grady might lose some hearing, some vision, he might have a change in his gait. We could handle anything as long as he was with us. With newfound strength we got ready to fight. 

We met angel #3 a short time after — Dr Christine Duncan at Dana Farber. Grady ended up with an amazing 10/10 unrelated bone marrow match right away. Grady’s brother Colin tested negative for ALD and everything went just so fast from there. 

Admitted to the hospital on 9/11/18 and met what came to be some new “family” members (his loving nurses) and chemo started the next day. Grady was a rockstar. Me, not so much – I dubbed myself “the neurotic mom in room 613” . He was transplanted 9/20/18.  Celebrated his 8th birthday on 10/2/18 and also started engrafting that same day. We were home 10/11/18.

The fear really set in when we got past transplant, but there was still this ALD we had to process. Every little thing Grady did I was so scared…is this progression?  He blinked 3 times more than he did 5 min ago….is this progression? Every single day that kid was outside throwing the football. Making one handed catches. Working out to get his strength back. I still panicked over everything, even though I was told by his NP, “If he is out there making one handed catches, you have no right to worry about progression “. 

I still did.

We were also trying to come to terms with some signs of ALD that presented post transplant, like an Auditory Processing Disorder. Grady can hear us, but he stuggles to understand language. Luckily – that’s his ONLY deficit. He is a miracle boy!

Other than not really looking like Grady from all the prednisone and stupid hairy cyclosporine, he is still the same Grady, but he is angry.  So angry, and rightfully so. Some days are better than others, but he is here and doing amazing. 

Grady’s follow up MRI was also a miracle. Not only was there no progression, but his lesion has also gotten smaller. They are not sure why, and have only seen this once before, but smaller. Miracle. We also found out that I am not a carrier. Grady spontaneously mutated. More crazy to add to our story. 

We still have a long road ahead of us. We have had a couple readmissions that seem to come with the BMT world, but he is doing amazing. There is hope – so much hope.  

This disease is awful, but if he has to have it, I’m glad to have found the people I have in this ALD community. The Smiths might be one small family, but we are joining the cause and going to help do big things!!!

#NBS #ALDawareness #toughtimesdontladttoughpeopledo #yougottabelieve 

💙

— Jillian

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Jillian is amazing. Without her determination to get answers, it would have taken weeks or months to get the proper diagnosis. If you have followed any THIS is ALD stories, you know how important an early diagnosis can be. I’m not actually sure of when (or if) Jillian sleeps, but Grady is one lucky kid to have her as a mom and the ALD community is lucky to have her on board. She’s only five months into this journey and already she’s determined to dive into sharing her family’s ALD story and raising awareness for our (not so rare — about 1/15,000) rare disease. Since she sent me this story, her family was on the news again. 

With the Super Bowl just days away, all you Patriots fans will love that Julian Edelman is a fan of Gradys — just like the rest of us!!

CLICK HERE

Jillian — Thank you for sharing your family’s story and we look forward to watching Grady’s progress as he moves on with his beautiful, sports-filled life.

Love, Jess

 

 

THIS is ALD #23 — Mason

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Are there any GOOD ALD stories? I guess we need to define the word GOOD.

good
/ɡo͝od/
adjective
“a good quality of life”

 

Jack (THIS is ALD #1), as a GOOD ALD story. He’s happy and can walk and see and hear and laugh. Although his life is full of challenges, we’re grateful that he’s enjoying a wonderful quality of life. If you look through the previous 22 THIS is ALD stories we’ve shared, you will find other GOOD stories, but sadly ALD is not a disease known for GOOD stories. As Newborn Screening spreads across the country (the world), GOOD stories will take over. Until then, a determined family, curious doctors and a lot of luck needs to come together for GOOD to happen. Mason had all three.

 

THIS is ALD.jpgTHIS is ALD #23 — Mason

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Mason was born on March 19, 2011- completely healthy according to doctors. When he was 4 years old, he was admitted to the hospital for the first time. He had gotten sick out of nowhere — started vomiting and could not get out bed on his own. In the hospital, all the tests they ran were negative, so after a few nights we were sent home with no answers. They said it was just a virus.

Everything went back to normal for close to a year when the same thing happened, but this time with a fever. Mason started vomiting and became weak and dehydrated and refused to get out of bed. He was admitted to the hospital for a few days and again all the tests came back negative and we were sent home being told it was just a virus. Three to six months later, it happened again and then again in December, 2017. It was the forth time he was admitted to the hospital with similar symptoms. Luckily, that time an endocrinologist was asked to come see him. The doctor reviewed Mason’s charts and immediately ordered an adrenal test. Mason was diagnosed with adrenal insufficiency and put on hydrocortisone. Before we left the hospital, the endocrinologist mentioned the word “Adrenoluekodystrophy” (ALD), but didn’t give us many details. All he said was that Mason was not showing any signs of the disease (other than the adrenal insufficiency), but to be safe, he ordered an MRI to rule it out.

The MRI was scheduled for January 25, 2018. After Mason had his MRI, I started Googling ALD, and convinced myself he did not have it because we had no family history of the diseases and he was not showing any symptoms. His appointment with the neurologist to review his MRI was on February 19, 2018 and I was calm leading up the meeting. February 19th arrived, and we got the news I thought for sure we would never hear — Mason had ALD.

I broke down and was terrified that Mason would start showing signs of the disease quickly. Our neurologist called Dr. Lund at University of Minnesota Masonic Children’s Hospital (Dr Lund is a leader in ALD treatment). Within a couple of weeks we were heading to Minnesota for our consultation for a bone marrow transplant (BMT). We were there for a week and found out Mason’s LOES Score (a determination used to rate the severity of the progression of the disease – it ranges from 0-34) was between a 3 and 4 and he was a good candidate for a BMT.

Instead of starting the process right away, they sent us home to wait for insurance to approve the treatment. That was the longest and most stressful month of our lives. Waiting on our Michigan Medicaid to approve an out-of-state BMT that was considered a “trial or experiment” (BMT, if successful, stops the progression of the disease, but is not considered a cure). For a month, a day did not go by without me crying on the phone with the insurance company or the doctors in Minnesota.

 

At the beginning of April, we finally received approval from insurance and were told that our doctors found and 8 out of 8 cord blood match. Mason had his transplant on April 26, 2018 and it went better than doctors expected. We were discharged from the hospital only 12 days post transplant.

I know Mason’s story is a miracle and I have not heard many other ALD stories as positive as ours. We are very blessed to have had the transplant in time and that Mason continues to be symptom free (with the exception of adrenal insufficiency). Michigan does not do the ALD newborn screening yet, but will soon hopefully.

-Erica

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Reading Mason’s story gave me chills. My hope is that stories like his will be the new face of our disease. An early diagnose, treatment, followed by a healthy life.

I’m by no means saying that ALD will ever be an easy diagnosis. Even with the “luck” of having that endocrinologist being wise enough to test for adrenal insufficiency and then following up with the MRI which properly diagnosed Mason, his family faced a lot of challenges. Fighting with insurance companies, financial responsibilities connected to treatment/travel/etc, the pain/discomfort/agony of a transplant — all these things will never make ALD an easy diagnosis. Still, the future looks bright(er).

And, Mason’s smile is super bright!

Thank you Erica for sharing Mason’s ALD story.

Love, Jess

THIS is ALD #7 — Nicholas

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THIS is ALD is gaining some traction. Not just in the ALD world, but I’ve heard from many non-ALD folks that they are appreciating learning more about the disease. ALD can look very different person to person. Here’s a story about a boy named Nicholas. Another success story thanks to an early diagnosis.

THIS is ALD #7 — Nicholas

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Our 13-year-old son Nicholas is a thriving survivor of cerebral ALD. His story so far is one of the rare success stories of this devastating disease thanks to family history (which gave us the knowledge needed in order for him to be diagnosed at birth), the Lorenzo’s Oil study, early detection through brain MRI, and a bone marrow transplant (BMT).

My father died from complications of AMN (Adrenomyeloneuropathy is the adult onset version of ALD. It generally develops during the late twenties or early thirties and progresses more slowly) and I found out I was a carrier at age 15. We contacted Kennedy Kreiger Institute at Johns Hopkins (where my father’s neurologist Dr. Hugo Moser had been) to prepare for testing once I became pregnant many years later. My husband and I were devastated to get the results that our perfect little baby boy had ALD, he was only a week or so old when we received the news. It was one of the worst days of our lives. We enrolled him in the Lorenzo’s Oil study at 18-months-old (Lorenzo’s Oil is a combination of oils that is thought to limit the accumulation of very long chain fatty acids that build up in the brain in ALD patients. It can slow down the onset of the disease). He was raised on the strict low fat diet and daily intake of the oil in the hopes it would keep demyelination at bay. Nicholas also had yearly brain MRI’s and we made yearly trips to Baltimore for testing and follow ups with the specialists. Dr. Gerald Raymond kept a watchful eye on him for nearly ten years.

The Lorenzo’s Oil study ended when Nicholas was ten, and we were told that hopefully he had escaped the most devastating form of the disease. Within a year of stopping the oil, Dr. Raymond spotted a small lesion in Nicholas’s brain caused by ALD and our lives began to spiral. We knew this could be the beginning of the end and our only option would be a BMT. Nicholas was a perfect candidate for gene therapy with a Loes score of 1 (the 34-point scoring system used to describe the evolvement of ALD) and no other symptoms. So we waited and Nicholas underwent MRI’s every few months to monitor the lesion…we had time on our side due to very early detection and slow progression, but we felt like it was a ticking time bomb and it was the worst several months of our lives full of worry and the unknown. Life came to a halt in our minds and hearts, yet we had to carry on for our children’s sake. We were referred after six months to Dr. Wes Miller at the Univ. Of Minnesota Children’s Masonic Hospital for consultation.

Nicholas was now eleven and needed to know exactly what was going on. It was a horrible visit full of heart-wrenching details of what a bone marrow transplant involved and what we were facing if the gene therapy study wouldn’t reopen. Within a few months, we were told the study wasn’t reopening at that time, and our only option was a BMT. The time was now as Nicholas was still extremely healthy and strong and no outward signs of ALD. Despite the challenge of living away from home for four months and the harrowing medical treatment of completely wiping out our son’s immune system and replacing it with another, we now believe it was the best decision and that the Lorenzo’s Oil diet quite possibly helped delay any ALD progression until late in the critical childhood years. We had the challenge of no blood siblings (we have a beautiful adopted daughter), but were gifted with a perfect umbilical cord blood donor match that saved our son’s life. We couldn’t be more grateful for the ALD specialists and BMT team of doctors who did all they could to save our son’s life and halt his disease in its tracks (halted disease progression was already shown on the 30 day post BMT MRI).

Nicholas is one year out from transplant and healthy (with adrenal insufficiency) and active in athletics. We know he is a miracle kid and this is not the usual case by any means. Newborn screening must be passed in all states so that every ALD boy has a fighting chance. We also know and have seen the many risks of BMT, as we lost an ALD friend in MN to one of the many risks of transplant and have heard of so many others. Nicholas is a best case scenario, we are forever grateful for where he is now. We want to do all we can for other boys like him.

— Julie

(I added a few details for readers unfamiliar with ALD — Jess)

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It’s thrilling to read how well Nicholas is doing one year post transplant. Again, his family had the luxury (THIS SHOULD NOT BE A LUXURY) of knowing that he carried the ALD mutation. This knowledge allowed them to prepare and act — initially with Lorenzio’s Oil then with a BMT.

Since transplant, Nicholas has been busy running 5ks and has even finished his first triathlon. His family has also been actively raising money and awareness for ALD hosting a Run for ALD event this last November.

Thank you Julie for sharing Nicholas’s story.

 

Love, Jess

THIS is ALD # 5 — Mason

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We are busy celebrating Anna’s big news and preparing for the HoliDAZE, but wanted to take some time to introduce you to another ALD champion, Mason.

I met Mason’s mother, Tina, this fall and she agreed to share a bit of their ALD story. Tina is a remarkable mother and, I’ve not met Mason in person, but I’ve fallen in love with his smile.

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THIS is ALD #5 — Mason

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        Mason was the best baby.  He developed all milestones at or before the age he should.  He was riding a bike without training wheels at 3.    We had no concerns with his development until second grade.  He had a hard time with multiple step directions and with math (common core).  He would have a concept and then it would be gone. He would bring his math papers home and I would erase them and give it to him to practice.  He didn’t remember ever seeing these papers. 
        Mason was diagnosed with Adrenoluekodystrophy (ALD) in April of 2016.  He was 8. We were told there was really nothing that could be done.  We have an awesome support system and everyone started researching and found the team in Minnesota (University of Minnesota Pediatric Blood and Marrow Transplant Program is a leading program for treating ALD) .  We made our first trip to Minnesota in May where they decided Mason was a candidate for a bone marrow transplant.  His Loes score (the scoring system to evaluate the evolvement of X-ALD) was on the high side, but Mason’s doctors said he was compensating very well with what the disease was doing to his brain.  They were hopeful.  We were so scared but this was the first time someone gave us hope. 
        Mason had his bone marrow transplant on July 11th, 2016.  We spent 30 days in the hospital and then we had to be in the area for 3 months (some hospitals release transplant patients to rehab centers/other local facilities once they have reached a certain milestone. In Mason’s case it was to a Ronald McDonald House near the hospital).  By this time, he lost a lot of vision, hearing and processing skills.  When we left the hospital, he was in a wheelchair and couldn’t see.  Even then he had goals…goal 1 was to get rid of his NJ tube (feeding tube) and goal 2 was to be home for his birthday. 
        They discharged us to go home on October 19th (his birthday is October 24th) and he was NJ tube free! 

        Mason is an incredible fighter.  He told a therapist when asked about how he felt about his vision loss that he’s not going to let it get him down.  That’s the kind of kid he is.  He is a very friendly guy and loves to tell jokes and make people laugh.  He does get frustrated with things he use to be able to do that he struggles with now, but he usually has a smile on his face. He is currently back in his school which he loves.  He kind of regressed a little with social skills since he couldn’t be around kids his age and was very scared around them.  Once he got back in school, he gained a lot of his confidence back.  He is learning Braille and the use of the white cane for mobility.  After stopping a few of his medicines, he got some of his vision back.  He can see and read but at a slower pace. We are so blessed, grateful and amazed by his progress.  We had no clue this disease even existed.  Awareness is so important.

(I’ve added a few details to explain terms that the non-ALD reader might not understand – Jess)

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Thank you Tina for sharing this piece. Mason’s story is similar to Jack’s in that there was not an early diagnosis. It’s important for everyone to remember how hard it is to diagnose ALD – why newborn screening is so vital to changing the future of this disease. Luckily, Mason had a successful transplant and is doing quite well. Life is complicated for him, but he seems to have the same great attitude and electric smile as JackO.

Love, Jess

 

THIS is ALD #3 – Dalton

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The response to THIS is ALD has been remarkable (If you missed post, check it out). I’ve spent much of the last week corresponding with people in the ALD community — hearing stories and sharing our own. It’s been emotional, but it does have me thinking that I’m onto something good.

I was working on a post about Goucher College and The Grateful Dead (including some marriage advice), but that’s going to have to wait. I have another ALD story about an amazing boy named Dalton.

THIS is ALD #3 — Dalton

I met Dalton’s mom, Jennifer Lindsey, in person this fall at an ALD symposium. I’d followed their ALD story since the beginning, and I was glad that I got to turn her from a stranger-friend to a friend. She is smart and loving and dedicated to the ALD community. As soon as I reached out to the ALD world asking for volunteers for THIS is ALD, she sent me a note. She agrees that the more people share, the brighter the ALD landscape will be.

Thank you Jennifer for your words.

        Dalton was a very laid back, easy going kid.  On a normal day, he wanted to wear jeans and a t-shirt.  In fact, if I ever had a polo or button-up shirt set out for him he automatically assumed it was picture day.  He kept his hair short, but did have a Mohawk a couple times, which he thought was awesome.  Dalton was a hot mess, but he was my mess.  One moment he could be the sweetest, most loving kid you ever met and then turn right around and be the most devilish, ornery kid ever. 
        I always thought Dalton was destined to be a comedian.  He could always make you laugh, even if you didn’t want to.  Sometimes it was genuinely funny and other times it was just so downright stupid it was funny.  Even when he wasn’t trying to be funny at all, it just came naturally to him.  At times he didn’t know when to stop.  He just liked making people laugh so much that if it worked he would keep it up, which at times was just fine and other times could be so frustrating.  Like most kids, he didn’t have a filter, so there was no telling what was going to come out of his mouth.  Dalton was a very sweet, loving boy who was robbed of everything possible by this monster we call Adrenoleukodystrophy. 
        Dalton was diagnosed on July 13, 2016 with Adrenoleukodystrophy, a genetic metabolic disorder that attacks the myelin sheath of the neurons in the brain. It literally robs these boys of their vision, hearing, motor skills, mobility, speech, ability to swallow, and eventually leads to death. A bone marrow transplant can stop the progression of the disease if successful, but does not reverse the damage already done.
        He was a perfectly normal 10 year old boy before. We had no clue. The only reason we had an MRI was because he was having hearing issues in May, 2016. I was thinking it might either be a brain tumor or a processing disorder so we did the MRI to be on the safe side. Second worst day of our lives. At that point they sent us to Riley in Indy, who more or less gave us a death sentence. We were then several days later pointed in the direction of the University of Minnesota Masonic Children’s Hospital, where we spent almost 5 months.
     Dalton had his stem cell transplant on August 29, 2016 which went beautifully, but he contracted the Epstein Barr virus in October, had to undergo more chemotherapy, and then was diagnosed with acute grade 4 gut graft vs host disease around mid-November. They tried several treatments, which were unsuccessful, and he was sent home on his birthday, December 1. We were under home hospice care until December 13 when he passed. I believe with all of my heart that newborn screening and gene therapy would have saved Dalton’s life. 

 

Watching Jennifer’s Facebook feed over the last few weeks has been difficult. She has been reliving/reflecting/sharing (not sure of the right word, but it’s been both heartbreaking and beautiful). “See your memories” is a feature on Facebook that should be about fun memories of silly times over the years, but when you’ve lost someone, it can be upsetting. Jennifer’s Facebook page has been sharing the last few weeks of her son’s life as well as who he was before ALD crept into their lives. Dalton’s radiant smile before ALD is beautiful, and that is the boy that I chose to picture here. I love how Jennifer describes him, “One moment he could be the sweetest, most loving kid you ever met and then turn right around and be the most devilish, ornery kid ever.” Sounds like an awesome boy!

Unfortunately, Dalton’s story is not uncommon for ALD. Stem cell transplants have profound risks and if the disease has escalated passed a certain point, many boys lose skills quickly during the process. And, like in Dalton’s case, a transplant can leave a person vulnerable to infection, rejection of the new cells and Graft vs Host Disease (where the new cells – the graft, attack the body – the host).

As Jennifer says, Dalton’s story might have been different if they had had the luxury of newborn screening for ALD and had had access to gene therapy. Newborn screening allows families to prepare and monitor their child’s health so that treatment is provided in a timely fashion. Gene therapy does have risks, but Graft vs Host disease and rejection is avoided. It’s a game changer for ALD.

For more about Dalton and his journey, check out: In the Blink of an Eye: Dalton’s ALD Journey

Thank you Jennifer for sharing Dalton’s ALD journey.

Love, Jess

Please contact me at jctorrey@mac.com if you are interested in sharing your ALD story for THIS is ALD.

Ten Years and Counting . . . Special Thanks to the Little Lady from Detroit

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I’ve been trying to find the right words, but I’m at a loss. There are no words to really describe how we feel today. I’ll keep this post short and sweet.

Ten years ago we put our son’s life in the hands of doctors and donors and maybe even a higher power (I know, I know – I have a terrible relationship with God, but I’m working on it). Ten years ago we didn’t know of any boys who were ten years post transplant for ALD. We didn’t know if there was a chance that Jack would reach this milestone.

Jack has reached this day – HIS TENTH TRANSPLANT BIRTHDAY – and I fully expect he will exceed every dream we’ve ever had for him. He’s just that kind of kid. He’s a silent boy who speaks.

We had a party this weekend to celebrate our boy. We filled our yard with greasy food and many of Jacko’s favorite people. Jack spent the day hugging, and dancing and enjoying every second.

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Please take a moment today and think about our boy. Think about how amazing life can be.

Happy Birthday JackO!!!

Love, Jess

In honor of Jack’s TRANSPLANT BIRTHDAY we asked people to make donations to Boxes of Fun and Horizon High School. Over $2800 was raised for his school and have a HUGE pile of toys for the Boxes of Fun. Our duct tape is amazing!

 

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FYI – “The Little Lady from Detroit” was Jack’s donor;)