Calling all ALD caregivers!!

If you are an ALD caregiver for someone who has received an allogeneic hematopoietic stem cell transplant, please consider participating on this advisory board. It coincides with this year’s ALD Connect Annual Meeting.

Love, Jess

bluebird bio plans to host a caregiver advisory board on November 7th in advance of the ALD Connect meeting in Waltham, MA. bluebird is looking for 6-8 caregivers of boys with ALD who have received allogeneic hematopoietic stem cell transplant (allo-HSCT) to gain insight and better understanding into the current allo-HSCT experience and unmet need, and perspectives on education gaps and current patient services for the community in the United States.

Please note that all interested individuals will go through a screening process and not all who are interested will qualify. For those who do qualify, an honorarium will be provided in compensation for their time as well as hotel accommodations for the night of November 6 and 7. For those participants who are not already anticipating attending the ALD Connect meeting, a travel stipend may be available.

For more information contact:

 Liza Fiore (Snow Companies)

1-866-375-7249

elizabeth@mypatientstory.com

 

 

 

THIS is ALD #26 – Hutch

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

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

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 #21 — Jack M.

I have known Kerry for many years through social media. We both have sons named Jack and we both know how ALD can effect every inch of every life in an entire family – even when it only takes over one body.

Thank you Kerry for sharing Jack’s story.

THIS is ALD — Jack M.

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Jack was 8-years-old when our family was at my older son’s boot camp graduation at Parris Island. Jack suffered what look like a seizure — months later we figured out it was caused by an adrenal crisis. He was taken from Parris Island to the hospital and then we took him home to Miami the next day. The doctors refused to test for anything specific, simply saying he had Epilepsy. It took several months, and lots of doctors, before Jack was diagnosed with ALD and adrenal insufficiency.

Although the doctors in Miami told us there was no hope, I put Jack on a plane and went to University of Minnesota Hospital (a leader in ALD research and treatment) to see if he would qualify for a bone marrow transplant. They agreed and Jack was transplanted using the precious cells from his brother, the Marine.

After transplant, Jack continued to decline because the cells needed time to get to where they were needed. I’ve homeschooled him his entire life and have been able to adapt all curriculum to where he is at any given time. It also has allowed us to be flexible while we continued to pursue other treatments for him. Over the next several years I took him to North Carolina to see a rare disease doctors and several other states for answers which I eventually figured out on my own. Jack’s disease finally stopped progressing 2 years post-transplant, and he was left requiring full-time care. I am his full-time caregiver. Respiratory issues and adrenal issues keep me on my feet.

ALD has not been the only complication our family has faced. We recently went through hurricane Irma and YES we are still fighting the insurance company to repair the house so we can safely live here. Three times over the last year I have had to travel to take care of my mother who has heart condition and breast cancer. All of this has been the worst case scenario — like the board game, except I don’t hold any cards. I just do whatever is needed at the moment. One step forward, two steps back. I try to just keep pushing forward. My Marine son says I would have made a great Marine — I have been through The Crucible and back.

Since my Jack’s diagnosis and transplant there have been 5 babies born in our family and one expected this July — my grandchildren. All of my grandchildren are healthy. Jack’s ALD was a spontaneous mutation (meaning it was not inherited). ALD is now part of the newborn screening panel in Florida. I often imagine if ALD had been part of the panel when Jack was born – so much of this pain could have been avoided.

So much has happened since ALD struck our family and it’s effected a lot of our lives. I have had children graduate from college numerous times and missed their graduations. I’ve missed grand babies being born. Everything is on the back burner while I care for my son 24/7. It’s also changed the lives of my seven other children. My 23-year-old is my constant help. My 29-year old Marine just receive his third degree from college in bio medical and he also runs a tutoring company that caters to Veterans and hopes to raise money for research to develop an auto injector (to administer steroids) for those with Addison’s Disease. All seven of Jack’s siblings have been contributing to ALD awareness. They have learned first hand how ALD can effect a family. My ex-husband has moved on since Jack’s diagnosis. He is remarried and started a new family and we have no contact. Another dirty side of the storm no one talks about. 

Jack is now 18. When Jack is doing well he has a good quality of life — bowling and baseball, he has even played soccer in his wheelchair. When he’s not well I count the moments and do everything I can to keep him out of the hospital and give him comfort. Sometimes I question putting him through chemo and transplant, but I know I tried and did everything possible at each step of our journey.  Jack is still here. He is still fighting and I will fight with him. I know the Lord has the last say. 

— Kerry

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Kerry is also a children’s book writer and has been a very active volunteer with political campaigns, adding to the bone marrow registry and raising awareness for ALD and newborn screening.

Thank you Kerry for sharing Jack’s story and helping the ALD community spread the word about our not-so-rare disease.

Get Swabbed

Eleven years ago we were told that Jack had Adrenoleukodystropy and that the only way to stop the progression of this hideous disease was a stem cell transplant (bone marrow transplant). Anna, who was 6-years-old at the time, would have been the best option, but she was not a match. Our doctors were forced to look on the bone marrow registry for a potential donor.

Imagine being told that the only chance of saving your child’s life is if a stranger is willing to make a donation.

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At the time I didn’t know much about stem cell donation. Online research did little to calm my nerves. At any given time, over 7,500 Americans are actively searching the national registry for an unrelated donor and only 2 % of our population is on the registry. And, what are the chances of finding a donor? Caucasian patients – 75%, hispanic patients 45% , asian patients – 40%, african-american patients – 25%, and multi-racial patients are faced with the worst odds. Over 3,000 people die each year because they can’t find a match.

Jack was lucky. Although there were no matches on the bone marrow registry, a stranger had donated their daughter’s cord blood (another option for a stem cell transplant) and Jack received those precious cells which stopped his disease and saved his life.

We’ve helped host many drives in the last eleven years and there have been at least three lives saved by spreading the word and helping people register. We are doing it again this weekend thanks to our friend, Elizabeth Sarkisian, and our local YMCA.

If you would like to learn more about bone marrow donation or would like to add yourself to the registry (and are between the ages of 18-55, not active military, in good general health, and over 105 pounds) please join us on Saturday 12pm-3pm at the YMCA in Maplewood.

Love, Jess

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Please keep in mind we are looking for people to register that are committed to donating if called. Otherwise there is false hope and wasted time for patients. Thank you!!!!!!

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

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 #4 – Jon

“When you hear hoofbeats, think of horses not zebras”

It’s a quote by a professor at the University of Maryland School of Medicine in the 1940s. A reminder to his students that, when searching for a diagnosis, not to think of the obscure until you can rule out the likeliest possibilities. I will never forget hearing it for the first time when a pile of medical students came into Jack’s room at Columbia Presbyterian Morgan Stanleys Children’s Hospital ten years ago. One of the students tapped the young man next to him and whispered, “Dude – THIS is a zebra!”

If Jack is a zebra, then Jon is a unicorn, with purple and cyan stripes. I met him this fall at an ALD event and I kept finding myself staring at him across the table. He’s in his mid-twenties, has his degree from the Milwaukee School of Engineering, is a comedian, and has ALD.

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THIS is ALD #4 – Jon

        This posting on Smiles and Duct Tape might have a different tone than most personal ALD stories. First off, I was diagnosed with ALD at the age of 1 due to the late diagnosis of my brother at age 6. It’s a common story. One that many of us have heard before, but did you catch what was odd? Maybe you did? I did, mainly because I’m the one writing this. There it is again.

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        The story keeps going with a bone marrow transplant at the age of 6, still a pretty common age range for those who are familiar with ALD. The transplant was at Minnesota which is synonymous with ALD. I came home after the transplant, and lived a normal life. Give up yet? I, me, the one writing the article had the bone marrow transplant. After hearing everything that happens to some boys with this terrible disease, I sometimes forget just how amazing this, THIS, is.
        It may even come more to a surprise that the journey started in 1992, when I was born. ALD would hit the silver screen a few months later with the movie Lorenzo’s Oil. Six years later, and an incredibly experimental treatment lead and here we are. So this article will take a different turn than any other ALD article and I’ll share with you everything I’ve done since the transplant. Everything, that is now achievable, by any other boy who is prescreened.
        As far back as I can remember, I’ve always wanted to be an engineer. Love designing ideas in my Inventor’s Notebook and building with Legos. Even during my transplant I was building Lego kits that were 12 years old and up. I was 6 at the time. It kept me busy. Models surrounded my hospital and Ronald McDonald House rooms. The passion for engineering continued after the transplant, as I excelled in math and science classes. Getting straight A’s in grammar school while being active in Boy Scouts. Scouting let me explore many different subjects, experiences, and knowledge which I still used today. In High School, I enrolled in Honors Math and Science classes. Doing my best to continue my streak of mostly A’s with the occasional B. I had the opportunity to take a few AP classes and a college level chemistry course which helped ready me for college. Furthermore, after class, I joined the Theatre Club and found joy in performing and speaking on stage. Fell in love with it and did as many plays as I could. Boy Scouts became a large part of my High School career. I served on Summer Camp staff for 3 summers and came to earn my Eagle Scout. I was selected to be a part of the Order of the Arrow ( Boy Scouts National Honor Society). Eventually becoming the youth leader as Lodge Chief, giving service to all members in Waukesha County, WI.
        Before I even started High School, I knew I wanted to attend the Milwaukee School of Engineering. Everything in High School worked towards that goal, and my senior year, I received my acceptance letter, though I had a feeling I would. College was the best years of my life. I continued all my passions of math and science, except now it was set to 11. I kept up with theatre joining the MSOE Theatre Troupe. There I acted in 6 plays, and directed 2. But the best decision I made in college was joining Triangle Fraternity. It’ an engineering fraternity and I became best friends with all of them. I may have lost a brother, but gained 100s I know I can lean on. Still staying in touch with them and even helping me secure my after college job at Affiliated Engineering in Phoenix Arizona. Today, I design the HVAC systems for colleges campuses and health care facilities. It may not be the same as a doctor treated young boys with ALD, but the buildings I’m designing may someday find a cure for this disease. And I’m okay with that.

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I’ve read this piece a dozen times and each time I’m in awe of how little Jon references ALD. He’s just a kid who loved legos and the Boy Scouts and learning and building and theater, and friendships. ALD is part of Jon, but it’s way down on the list of things that define him.

Jon was a pioneer. Like the boys going though gene therapy now, in 1998 stem cell transplants for ALD were experimental. Jon’s family had already lost a son and chose to try something new to save Jon’s life. Not only did it work, but it worked before ALD took over. Honestly, meeting Jon you would not see any hints of our disease. It’s amazing. Inspiring. A little heartbreaking  — I can’t help but wonder about Jack and who he would have been had ALD not touched every single part of his life. It’s crazy how random this disease can be, BUT I’m thrilled that Jon has enjoyed such an incredible life and it’s just the beginning of his story!

Thank you Jon for sharing your ALD story. My dream is that, as the years and research move forward, your story will become the standard — boy gets diagnosed, boy gets treated, boy lives life.

Until then Jon — you are the ALD unicorn!

 

Love, Jess

 

THIS is ALD #3 – Dalton

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.