Finito

Yesterday I was at a doctor’s office waiting to get my annual mammogram. If you’ve ever had a mammogram, you know that it isn’t any fun. As I waited to be called, I was trying to distract myself with cheesy magazines and social media before starting to send text messages, DanO – how’s your day going? Kim – Wanna head to the beach later this week? Anna – When do you get home from school today?

Before I hit send on the last one, it hit me. Anna wasn’t getting home from school, because she didn’t have school. She’s done. Finito. I’d known it was coming for 18 years, celebrated with her at countless parties over the last two weeks, and sat through a two hour ceremony filled with caps and gowns, playing Pomp and Circumstance BUT it didn’t really sink in until I was sitting in a sterile waiting room with a bunch of strangers, all of us wearing nothing but red and pink striped robes.

Welcome to my world. I was actually relieved when my name was called to go have my boobs smashed flat as pancakes.

Enough of me, my boobs, and my crazy emotions – here are some photos of Anna on her big day!

 

Love, Jess

My mammogram — unlike me — was normal.

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Day +4003 (not a great day)

Day +4004 . . .

4004 days since Jack’s transplant. Almost 11 years. Over half of Jack’s life.

Our family lives our lives marking everything with before or after ALD barged into our world. Don’t read that last sentence and feel sorry for us. Most days after ALD are just fine, and many days after have been wonderful.

We’ve created lives that work – thanks to smiles and our duct tape. We have our Anna’s sweet disposition and busy schedule keeping us on our toes and filling our dinner-time with stories. And, we have Jack’s mood that sets the tone for everything we do. Sometimes I feel like I float between two worlds. Attending an IEP meeting in the morning where we discuss things like “teeth brushing” and “using a fork” as long-term goals and then head off to watch Anna run down a lacrosse field effortlessly to score several goals. Most days I go back and forth seamlessly, enjoying each of my children and their lives.

Yesterday was NOT one of those days.

Yesterday started shitty. I won’t go into too much detail, but just imagine cleaning up a nineteen-year-old and his bed after what I’m assuming was a mexican lunch the day before. I was scrambling to get through that mess, when I noticed that dear Anna had managed to switch the laundry the night before WITHOUT switching anything that did not belong to her. This was followed by a lot of yelling up to her bedroom (those stairs are too steep for me), “This is not a hotel!! You need to do your part around here! You are NOT in college yet young lady!”.

I was already fuming as Jack and I then went through the rest of our morning routine as quickly as possible so that we could head off to the Social Security Administration. It seems that we had been “randomly been selected” to come in for a follow-up interview to determine if Jack still qualifies for Social Security. This was our fifth visit and third time being “randomly selected” in less than two years.

 

Flash forward five hours —— I was crying uncontrollably to the young woman across the plexi-glass, “How many times do I need to tell you guys that my son is disabled? We have countless letters from doctors and teachers. He is not going to get better! He will never have a job. Never! His disease has stolen any hope of a normal life where he can work and live independently and support himself.”

I wasn’t finished, “There might be people in that waiting-room over there that are trying to take advantage of the system. I assure you that Jack is NOT one of them! Wanna look up ALD on Google? Wanna spend a day with Jack and tell me that there’s a chance of him NOT qualifying for Social Security? Why are you wasting your time and tax dollars on cases like ours?” and “No – our address hasn’t changed. No – our phone number hasn’t changed. No – Jack does not have any new pay-stubs to share with you. Why the hell couldn’t we have answered these questions over the phone? WHAT the hell is wrong with you people?!?”

After my rant, she apologized, but all I could do was help Jack off his seat, grab the paperwork (where she’d added her direct number “just in case we get another letter”) and walked out the door without a word.

I drove home yelling at the world and then laughing with Jack who I could see in the rearview mirror making funny faces at me. The wait, the questions – none of that seemed to bother our boy, but his crazy mother he sure found hysterical.

I realized half way home that I’d forgotten that I was teaching an art class at 2:30. It was 2:00 and we hadn’t eaten since breakfast (Social Secuirty rules include: no eating, no drinking, no phone calls, and go to the bathroom at your own risk – you miss your number? too bad). I called my boss and explained that I would be late and I would be bringing a special guest to my class.

I usually love the opportunity to introduce Jack to children, but I was running so late that I was too worried about finishing our project to do much of an introduction. My kindergardeners kept looking up from their Blue Dog inspired paintings to check out Jack and ask things like, “If he can’t speak how do you know what he wants for dinner?” and “What’s with those funny leg things he’s wearing?” and “Why is he trying to eat the craypas?”

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I did my best to answer their questions with a lite, age appropriate spin, but at one point I got so distracted that I rammed my toe against a table. It was like The Powers that Be were having a lot of fun torturing me. I’ve never been happier to see parents arrive for pick-up.

Our last event of the day was Anna’s lacrosse game. Swinging back to a fun event seemed like a great idea, but after ten minutes of watching the Cougars, a storm rolled in and we needed to run (Jack hopped) to the car to drive home in the wicked weather. Jack and I walked into the house drenched.

I went through the motions of dinner, bath, bed, just wanting the day to be over. I was starting to breathe again, even laughing with Dan and Anna about the events of the day, but the crappy day was not quite over.

As I got into bed, I felt a sharp pain. My toenail had fallen off.

Love, Jess

Today is a much better day. No sad looks if you see me at the grocery store. I promise I am back to being cheery mom/wife/friend/teacher/writer. Day 4003 stunk, but most days after ALD are just fine. 4004 days and counting!!

 

 

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!!!!!!

the bearded boy . . . man

 

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Jack’s been trying out a new look lately. It was Anna’s idea and, as Jack’s personal shaver, we let her run with it. Jack’s now sporting a goatee. He looks like a man — I no longer have a child-child with special needs, I have an adult-child with special needs.

It’s different and it’s scaring me.

I remember sitting on the beach on Block Island several years ago when I saw a couple walking down the beach hand-in-hand. My first thought was that I was proud of living in a country that people didn’t need to hid their love. These men looked so happy as they were enjoying the sunshine and each other. Then, as they got closer, I noticed that one of the men was clearly helping the other manage the sand and the water. They weren’t lovers, they were friends or brothers and one had special needs.

Before that day, I hadn’t spent much time thinking about what life would be like once Jack was an adult. We’d done all the responsible things to prepare (wills and trusts and guardianship plans), but I hadn’t really thought about what day-to-day life would look like once Jack’s childhood was over. Suddenly I was filled with questions. How/where do you change a diaper inconspicuously? What kinds of programs are available for adults with special needs? What will JackO do without his beloved Banana’s hugs every morning? Will we need to move? Will we need live-in help to help bathe/dress/care for our son?

Like most thoughts that make me uncomfortable, I stored them away in the back of my mind. They’ve been living quietly there, but now when I look at Jack and his hipster beard, the thoughts and questions are flooding to the surface.

The problem is that I don’t know what to expect with this new chapter. I’ve worked really hard for us to be “a normal family with a special child” (I know “normal” isn’t the right word – What is normal? Perhaps a better word would be typical or standard.  I hope you understand what I’m saying). It’s taken ten years, but our family has finally reached a place where our lives (mostly) parallel the lives of our friends and neighbors. Sure, we can’t do everything that we could do before ALD, but with a few adaptations we’ve managed pretty well to keep things in line with our pre-ALD existence. We’ve learned to focus on what Jack CAN do, not his challenges. We’ve found schools and programs that have supported our goals and Jack gets to go to school each day with kids that we’ve come to know and a staff that’s devoted to these special teens. Our family has worked out ways to continue to do things we love. We spend time with family, go on long walks, visit with friends, travel.

We’ve also had Anna and all of her “normal” activities to keep us safely anchored in the normal/typical/standard world. Our lives work. We are happy, well adjusted, very few complaints.

Now Jack and his beard are a constant reminder that change is on the horizon. Our next IEP is focusing on preparing for his transition as he ages out of high school (there is some time, but we need to start the process) and Anna and all her “normal everyday stuff” is leaving for Baltimore before long. I’m not clear as to what our days will look like once these changes happen.

CHANGE is a four letter word.

I’m trying everything — books, breathing, essential oils, therapy. I need to figure out the optimal strategies for making this transition bearable — even positive. I’m making some strides, but I think what I really need to do is to remember that couple on the beach on Block Island. Neither seemed to be focused on anything but each other, the sand and the sunshine. They were acting the way that we do TODAY when we walk through life with our boy . . . our MAN.

We will get there. That’s what we do.

Love, Jess

 

 

 

a ski weekend, the Jack Pack, and next year

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Just getting back from a ski weekend in Vermont with friends. Over the years we’ve done a lot of these weekends. We rent a house with a few families. Most everyone skis, but there are always a couple of people who linger with me and Jack. Our days are filled with quieter activities, but we always manage to have fun.

Each morning the house scrambles to life as the kids all frantically run around searching for their gear while the parents try to get some breakfast into everyone and make the lunches for the mountain. Depending on how late the previous night’s festivities went, the skiing crew heads out the door between 9:00 am and 10:00 am — then the house falls silent. That’s when the non-skiing crew makes a plan.

This trip included an awesome hike, a three hour/10,000 calorie lunch, an adventure to visit my oldest friend and her daughter AND a whole lot of girl talk – the rest of non-skiiers were ladies (sorry Jack). Jack is accustom to hanging with the ladies, and knows more than his share about the local gossip and just how many Weight Watchers points are in a margarita, but he always knows that by the end of the day he will be reunited with his peers. They will all walk in the door and, without missing a beat, find JackO to greet him and fill him with stories from their day’s escapades. Anna is always the leader of the Jack Pack – the best sister on the planet.

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But what about next year?

THAT’S the question that seems to fill my mind constantly these days. We just had an amazing weekend in a beautiful log cabin in Vermont — enjoying friends and the landscape and late nights singing along with music from our high school years (sorry I am not allowed to post any activities that took place after 9:00 pm). A perfect weekend and my biggest take-away is — What about next year?!?

Anna will be starting her second semester of college by February next year. Will Dan, Jack and I still head up to a mountain for a long winter weekend? What will it be like to travel with Jack as the only Torrey kid? Is it worth trying to continue these annual traditions or is it better to start new ones?

I know what you’re thinking — Anna isn’t moving away permanently. She’s going to college. College kids are home as much as they are gone AND she is only going to be 180.6 miles away. There will be many more family trips.

BUT, it is going to be different once she heads off to Baltimore. Her priorities will be — should be — on her life, on her future. It will be the beginning of her life as an adult and the beginning of our nest changing – again. The house is going to be so quiet when she isn’t around. Who is going to remind us what Jack should be wearing and listening too? Who is going to protect Jack from the endless hours in front of Bravo (with me) and PBS (with Dan)?

We will figure it out. Anna will only be a phone call away with her fashion advice and Dan and I will learn to control our TV habits (we know how to find TruTV). And, as far as the ski trip goes — we can go earlier in the winter if a ski trip is a “must do” Torrey activity. We can also forgo skiing altogether and go down to Baltimore and eat some crabs with Anna.

THIS is the real issue. THIS seems to be my go-to solution to all “my nest is changing” worries. Sorry Anna.

Love, Mom

 

 

THIS is Alexander Disease (a cousin of ALD) #8 — Olivia Kay

By now I hope you are starting to understand Adrenoleukodystrophy (ALD). If you know our family or have followed Smiles and Duct Tape for a while, you know what ALD looks like for Jack. THIS is ALD has hopefully helped you to better understand what the disease looks like for other patients. I have many more of those stories to share, but today I want to share a story about a little girl named Olivia Kay and a disease called Alexander Disease Leukodystrophy.

Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain and spinal cord by destroying the myelin sheath. There are dozens of Leukodystrophies (including ALD) and Alexander Disease is the most rare of the bunch.

Olivia Kay’s mother, Lisa, offered to write their family’s story and I was eager to share a story about another disease related to ALD. Meet Olivia Kay.

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THIS is ALD (actually, Alexander Disease) # 8 — Olivia Kay

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It was December 10, 2009 when I received a phone call from a doctor with the Cleveland Clinic. Did I know that morning that when I would wake that very day, it would become my daughter’s “day of diagnosis”? In the community of “parent’s raising special needs children”, it’s the day you treat like a holiday, but often not celebrated by any means. You never forget it and dread when it’s near. Like most parents, they remember that day just like any other parent never forgets the day their child first walked, or said their first word or peddled their first bicycle. It was the day that I was told my daughter would not live very long and she was going to die. Now I carry that day with me, for the rest of my life.

Olivia Kay was born with Alexander Disease Leukodsytrophy. Alexander Disease is the rarest form of more than 50 forms of Leukodystrophy. She was diagnosed with infantile onset, which means, between the ages of birth and 2 years of age. Diagnosis can only be verified through genetic testing. And sadly, there is no cure. Those who are affected by the disease appear healthy until the onset of symptoms. Olivia was very healthy and started having developmental issues and seizures at 10 months of age. This began our journey and the start of many hospitalizations and medical appointments.

There are three onsets – Infantile, Juvenile and Adult. Onset of the disease is due to the destruction of myelin in the brain caused by mutations in the GFAP (Glial Fibrillary Acidic Protein) gene.  This essential protein is responsible for providing strength to important cells.

Unlike other Leukodystrophies, Alexander Disease is not always hereditary. It is caused by a sporadic gene mutation within the GFAP gene, meaning the mutation occurs without being inherited from the parents.  There are some cases of Adult onset Alexander Disease where the disease has been found to be genetically inherited, however, this is rare.

With Alexander Disease, many children suffer from seizures along with many other symptoms. After learning of her diagnosis, the doctor told us to “treat the symptoms and find a support group”. I look back now and realize, that was absolutely of no help to me. Knowing that our daughter would never outlive us was heartbreaking; we lived in denial for quite awhile. Knowing how to navigate life moving forward, was scary and uncertain. And we would face this most likely alone.

As we walked this journey with our child, you quickly become not only the parent, but you become you the doctor, the nurse, the therapist and the advocate. As we struggled with some of the most emotional and heartbreaking decisions you will ever have to make for your child, we knew that what we were doing were the best decisions for Olivia’s quality of life. She endured many what I call “seasons” of the disease. From feeding difficulties, to gastronomy tube, sitting up in her wheelchair to bedridden, to respiratory challenges and ventilators and digestive and bowel regimes. Each time we entered a season, she tackled each one with bravery and strength.

Sadly, Olivia passed away on April 28, 2017 at the age of 8. I am so proud to have called Olivia, my daughter. She taught me more in my life that I will ever learn in a whole lifetime. Olivia changed lives in her community and impacted strangers who met her.

The most honoring thing that we can do as her parents now; carry her legacy on to further bring awareness to this disease, help support more children and families living with illness and share her story so that people can become more knowledgable about all Leukodystrophies.

— Lisa

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I had a hard time sorting through the photos that Lisa sent me. Tears flowed down my cheeks knowing what Olivia Kay’s small body suffered and what her family went through. She was such a beautiful girl with shinning light in her eyes. Lisa describes how her young daughter tackled each “season” of the disease with bravery and strength. A remarkable girl. A remarkable family.

Thank you Lisa.

Love, Jess

 

THIS is ALD #6 — Donovan

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Another ALD story to share, and this one is a little different. This is a new story for ALD –hopefully the future of our disease. It’s a story about a boy, newborn screening, and a bright future. Meet Donovan.

THIS is ALD #6 — Donovan

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My son, Donovan, was born in Connecticut in 2016. When he was 3 weeks old, his pediatrician called and said he tested positive for a “metabolic disorder” on his newborn screen and needed further testing. She was purposely vague because she didn’t want me to Google the disorder until we had confirmed answers. It didn’t do much to keep me from worrying, though. She mentioned that if it was confirmed, my 3 daughter’s would need to be tested as well. Without much information, I was scared for my son’s life, and the health of my daughters. 

The tests came back positive, Donovan had ALD. Don’s pediatrician continued to be vague, and I understand why. She wasn’t an expert on the disease, and didn’t want to give me any false information. My first question was “Is it life threatening?” All she could say was, “It can be.”

That’s when the Googling started. 

We met with a geneticist at Yale, who was the only expert in the state. The information she gave us was overwhelming, and tough to process. So many unknowns. When will it manifest? Will it ever? What type will he have? How severe will it be? There was no way to tell. My husband and I spent several nights cradling and weeping over our newborn son. So small and perfect. How could he have this monster inside of him?

After the diagnosis, I joined the ALD support group on Facebook and met some amazing and wonderful people. I was connected with lovely families here in CT, some who were also diagnosed through newborn screening! 

At 3 months, they tested Donovan’s blood to get an understanding of his adrenal function. At 6 months, he had his first MRI. I was terrified. I knew there wouldn’t be anything to see in his scans at this age, but they had to put him under so that he would be still, and that worried me a lot. He came through it like a champ, though. It didn’t seem to bother him at all! 

Donovan is unique. First of all, he did not inherit the gene from me. I am not a carrier, and no one in my family, or my other children, are at risk. Donovan’s gene spontaneously mutated while in the womb. This only happens in 5%-7% of ALD babies. Secondly, he is, what his geneticist called, a “mosaic.” This means some of his cells are mutated, but some are not. She seemed baffled by it. She didn’t know how or why it happened that way, or how that might affect his condition. If at all. More unknowns. So they treat him like any other ALD patient, and I am grateful.
 
Don is now over a year old. He will have yearly MRIs until he is 3, and the every 6 months. He will also have his adrenal levels tested every 6 months. So far, all his tests have been normal.

ALD has opened a whole new world to us. I’ve met people I never would have otherwise known. Strong, beautiful, inspiring families. Some of their stories are terribly tragic. My husband asks me why I read those stories if it makes me so sad, and I tell him, “Because they put their pain out there. I just want them to know someone is listening, and someone cares.”

I am not a perfectly patient person, not at all! But I do think I live a bit differently, now. I take more pictures and videos, I give more hugs and kisses, I say more “I love yous.”

Donovan is my 4th child, but my only son. His older sisters adore him! He is cuddly and happy. He is curious and likes to get his hands on everything! He has even started climbing, now! His sister, Josephine, is only one year older than him and they are best friends. They do everything together and always want to be with one anther. My older 2, Mika and Ripley, help change diapers, teach, and play with him. 

None of our children know much about his ALD. My 9 year old has heard us use the term and noticed his many doctor appointments, and she just understands that he has something inside him that could one day make him very sick. So we have to keep an eye on him. We have settled into our “normal.” Life has gone on, and I couldn’t be more grateful for that! For the chance for life to go on.

-Diana

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Diana and I met through the ALD Support group she mentioned and when she agreed to share Donovan’s story I was thrilled. It’s so important that people realize the advantages of newborn screening and an early diagnosis. Although the news must have been a huge slap to their family they are allowed to prepare and monitor.

The hope is that beautiful little Donovan will go on to have a perfectly normal life and ALD will stay dormant forever, but just in case, his family has a plan in place. It’s thrilling.

Diana told me that she wasn’t a writer, but I beg to argue. Her voice shines as a mother who loves her children and will do anything she needs to do to give them the best life possible. Thank you for sharing your story, Diana, and for helping people better understand our not-so-rare disease and the importance of newborn screening.

Love, Jess

 

 

 

 

happy new year!?!!!

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There is nothing like waking up New Year’s Day with a head full of fun, foggy memories, and feeling grateful for everything in your life – your family and friends being on the top of that list.

It was nearly 11:00 am before us Torreys were all up and ready(ish) to face the day. We had just a few goals for the first day of the year and we could do all of them in our pajamas – perfection. We needed to clean up the house from our New Year’s Eve festivities, take down the Christmas tree, and eat all the calories in our kitchen before New Year’s Resolution #1 could begin.

Everything was going according to plan until we heard Anna yell, “Mom, there’s water pouring out of the ceiling!”

Happy New Year!!?!

We’ve been through this before. Our second floor washing machine pipes are a little too close to the outside wall, and seem to enjoy finding the least opportune time to freeze and burst. We thought we had resolved the issue two years ago. We hadn’t.

I know our family has the reputation of being optimistic and flexible and calm and easy-going, but trust me, when there is water dripping from our ceiling, we are none of those things. “Fu#k” was the word of choice as we all ran around the house – water shut off, towels thrown all over the floor, large pots trying to catch the stream. Our plumber almost laughed when we called him, “Pipes are bursting all over town. No way I can see you any time soon.”

We called another plumber . . . and another. “Maybe by the end of the week.” was the best answer we got.

Fu#k!!!!

I was convinced that 2018 was going to unravel. That somehow what happened in the first day of the year would determine how the year would play out. Our house was going to fall apart, we would need to spend Anna’s college fund to pay for repairs, and we would never have access to clean clothes again.

It took a few hours, a lot of swearing and a good look at what we were dealing with before we calmed down. It wasn’t so bad. We had shut the water off before any real damage was done. The plumber will come by the end of the week and fix the issue and we have an old washing machine in the basement so we don’t need to be smelly.

By mid-afternoon New Year’s Day, our house was clean, the Christmas decorations were neatly stored in the basement and we were sitting in front of Netflix eating ridiculous amounts of lasagna, cookies, and peppermint bark (I hate whoever brought that into our house).

2018 wasn’t ruined.

I stopped believing in karma, destiny and fate years ago. How could I believe in such things? I’ve seen too much pain and suffering throw around great people to credit anything but chance.

Our pipe burst because it’s been super cold — bad luck. We were able to get the water shut off before the ceiling caved in — good luck! We had an awesome New Year’s Eve with a pile of festive friends — good luck! Jack and Anna are both healthy and doing great as we start the new year — good luck! One of our so-called friends brought not one, but two boxes of peppermint bark — bad luck.

It’s a new year. 365 days and some will be great, some crappy. My newest resolution is that I will take each day as it comes. I can’t promise there will be no cursing, but I think I can do this!

Wishing everyone a decent 2018 with more good days than bad!!!

Love, Jess

P.S. Peppermint Bark = 13 points on Weight Watchers;(

 

 

 

 

 

 

 

 

 

 

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.