happy birthday JackO!!

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What were you doing in your life when you turned 20?

I was living in Baltimore – a junior at Goucher College, studying art. I was trying to balance keeping up with my studies while enjoying every ounce of social time that I could. Dan was a student at Johns Hopkins and studying in Florence for the year. He was learning a new language and traveling throughout Europe with a very thin wallet and a EuroRail Pass.

When we started our family and I would dare to think about the future, like most parents, I imagined our children following a similar path to what Dan and I took. I didn’t think of if Jack and Anna would go to college, but where they would go. Whether they would study art or a language or the law. I hoped they would make good choices and stay out of too much trouble.

Having a special child, you need to learn how to shift your expectations and letting go of the college dream for Jack is something I did long ago, but with each birthday I’d be lying if I said I didn’t pause for a moment and think if only . . .

Instead of college, Jack greeted his 20th birthday still attending his high school and living at home. He requires assistance with everything from eating to showering to getting dressed to toileting to getting into bed. It’s not the life I ever imagined for our son, but as I celebrated his 20th birthday with him, all I kept thinking was how happy he is.

Jack partied all weekend long! Pool time with his buddies Peter and Orla, a party on our deck with close friends, and he even got to spend time with his oldest friend, Caleb. Today the party continued as he celebrated with his buddies at school. As I watched him enjoy all the attention, I realized there’s no need for if only just WOW! What a great life our boy is living!

Life at 20 can vary. It’s that age that straddles the end of childhood and beginning of adulthood. One thing that most people have in common at that age is that everything seems possible. Jack’s life is different than most, but I still believe that anything is possible. HAPPY BIRTHDAY JACKO!!

Love, Jess

a table full of girls

Over the weekend we attended another graduation party celebrating a dear friend of Anna. They’ve known each other since they were tiny, and she has spent so much time with our family, that I consider her to be another daughter. Dan loves her too and Jack would think of her as a sister, if he didn’t have such a massive crush on her.

She’s not alone. Jack has crushes on all of Anna’s girlfriends. And these girls are wonderful to our boy. When they come to our house, the first thing they do when they walk in our door is ask, “Where’s Jack?” and then seek him out to give him a smooch. Some days I find Jack in the middle of the sofa surrounded by beautiful teenage girls watching Gilmore Girls or lose track of him to discover that he’s made his way up to Anna’s room to listen to some girlie gossip.

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Jack and some of the gals a few years ago.

Most of Anna’s circle of friends she’s known since diaper days. They knew Anna when she was a chubby little girl with a crooked smile. They knew our first house over on Jefferson Avenue and they knew Dan and I before we had gray hair. These kids also knew our family before ALD came screeching into our lives. They knew Jack when he was just a year ahead of them in school, loved to ride his bike and was one of the MCs in the school talent show (the only video we have where we can hear him speaking . . . ).

I realized while watching the girls at the party that I’m not just saying goodbye to Anna as she heads out to college — I’m saying goodbye to her buddies too. And, so is Jack.

I know Anna will find a wonderful new cluster of friends at college. She has good taste in friends and seems to always be surrounded by a funny, smart, kind assortment of people. I’m sure she will share a lot about her family with these new friends. About her loud Dad who graduated from Hopkins and loves history, music, lacrosse and the Yankees. She will undoubtedly share stories of her mother who insists on family dinners, needs constant help with wardrobe advice and spelling, and drinks a little more white wine than she should. And, I’m sure Anna’s new friends will hear a ton about her brother – the person who she adores more than anyone on the planet. They will hear what happened when Anna was only six-years-old and how it shaped so much of who she is now and what she longs to do with her life. Her new friends will see pictures of all of us and maybe even meet us over the next few years, but they will never know the whole story. They will never really know Jack the way that Anna’s childhood friends do.

I know that some of the relationships Anna has with her childhood crew will ebb and flow for a while. They are scattering all over the US for the next four years. It will be hard, but I really hope that they all make an effort to meet up again whenever they can. I’m lucky to still be close with a few of my childhood friends and it’s amazing how they know me on a level that newer friends just can’t reach. There’s something magical about childhood friends.

The graduation party was wonderful — good food, some white wine for me, and a lot of familiar faces. As I sat inside to escape the heat, I watched Jack through a large picture window. He was sitting next to Anna at a table full of some of his favorite girls. He had a grin from ear to ear. I know there will be more parties and tables full of these girls, but they will be a further apart now that many of the kids are heading off. I want to make sure that I savor them while I can and make sure JackO gets to enjoy as much girl time as possible before the summer comes to a close.

Love, Jess

welcome to the world beautiful boy!

I was seven when my younger brother Phil was born. It was before the days that hospitals allowed siblings to visit the maternity ward, so the first time I met my brother was when my mother walked into the house, holding him wrapped up like the most magical present I’d ever seen. My very own living doll.

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I loved having a little brother who I could dress up and cuddle, but as we got older the seven years between us meant that we were always at different stages. When I was in high school, Phil was the nosy kid who always seemed to ruin the fun. And when he was busy enjoying his own high school angst, I was the older sister acting like a lame extra parent. Phil was still in college when I got married and barely out when Dan and I started a family. He was living the single life, as a creative sole, when I was busy raising kids and then dealing with our ALD journey/nightmare. I think Phil and I both spent much of the last twenty years loving each other, but not really getting each other.

Last week, that baby that I held 41 years ago welcomed his own baby into the world, Carlos Michael Cappello. Not only am I thrilled to have another baby in the family, but when I watched my brother hold his son, I realized that for the first time in a long time, our paths are overlapping.

Phil’s beautiful wife, Kate, bravely suffered through 27 hours of labor before needing a c-section. A cruel introduction to parenthood. Learning from the get-go that no matter how much you plan, kids have a way of directing things. And, despite their exhaustion, both my brother and sister-in-law quickly discovered that, no matter what complications your kid puts you through, you push on with a smile, because you would do anything for your child.

Little Carlito is the most beautiful baby. He is strong and healthy and I swear he was smiling yesterday while his parents were holding him. He knows he’s in great hands. Phil and Kate are already amazing parents.

Welcome to the world beautiful boy! And, welcome to parenthood my brother. May you enjoy every beautiful, messy moment. And, if you ever need anything I am here for you. I get you;)

Love, Aunt Jess

 

 

If your wondering if spending time with my new nephew made me start thinking about Jack and ALD and if onlys. Sure. As I held Carlito with Jack by my side, I couldn’t help but think of all the hopes and dreams we had for our boy when we first brought him into the world. How, almost twenty years later, many of those dreams are out of reach. But, then I quickly brought myself back to where we are and who Jack is and how we can’t focus on the if onlys. If onlys don’t really get you too far. All they really do is make you blind to what’s in front of you. And, what’s in front of us is a new, beautiful boy who we can hold and dress up and cuddle and then hand back to his parents when he needs a diaper change.

Besides, our biggest goal for our boy was for him to be happy and who’s happier than Jack?

Anna is missing from the photos because she’s at BEACH WEEK with her buddies. allowing her to go was not by proudest moment as a parent, but so far she is safe and sound and hasn’t gotten into too much trouble. She can’t wait to meet Carlito!

still spinning.

Not feeling like I can find the right words to adequately describe all the milestones/celebrations we’re enjoying right now. The only words I can think of are unreal, overwhelming, beautiful, magic and coffee (I can’t seem to get enough).

When words don’t work, I turn to photos. Here are some favorites from the first five days of The Torrey’s Crazy 14 Days of Non-Stop Celebrations, or maybe it should be The Crazy Torreys 14 Days of Non-Stop Celebrations.

Graduation parties, Father’s Day, a birthday celebration for JackO (between his transplant and typical birthdays) – complete with incredible live music and delicious cupcakes, and Prom.

 

 

I’m loving every minute of each event and haven’t cried as much as I’d anticipated, but trust me – my brain is still spinning.

Next stop – Graduation.

Love, Jess

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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!!

 

 

maybe it’s not really a problem.

Eleven years ago today we heard the word Adrenoleukodystrophy for the first time. Part of me feels like it was yesterday and part of me has trouble remembering life before that day.

Our family has certainly been through our share of challenges during the last eleven years. It’s one of the reasons that I’ve been surprised that I’m finding it so difficult to deal with the relatively small challenges we are facing these days – Anna preparing to head off to college, friends moving, an oil tank reeking havoc in our front lawn, deciding when/where to move, our rat-dog’s new haircut. My body didn’t betray me eleven years ago when our challenges were grave, why now? I have my theories that I won’t bore you with, but for now I’m trying to tackle what I can before I get swallowed whole.

My first test was last Friday. I spent a week preparing for a two mile drive – The Delaware Memorial Bridge. Trying to explain my new fear of bridges is impossible. There’s nothing rational about my explanations and it’s often made worse because I walk away from an explanation feeling like I sound not just fearful, but kinda crazy. Then, I worry about being crazy and what people must think . . .

I was dreading the drive to Baltimore and the huge bridge I would be facing, so when Jack and I got in the car on Friday I had a post-it note with a magic number firmly stuck to the dashboard. I was planning to call a “bridge escort”. I was not going to judge myself for it. It was the right decision. Safe and responsible.

The drive was going smoothly and I was relaxed thanks to my “safe and responsible” decision. Jack and I listened to good music and I caught up on some phone calls. I was on the phone with Mymom when suddenly I was faced with the bridge directly in front of me. It came out of nowhere. I was in the middle lane and frantically trying to figure out how I could pull over, “Mom, I’m here. I don’t know what to do. Oh my GOD – I’m ooooooonnnnnn the BRIDGE!!!”

Mymom was in the delivery room when I delivered both Jack and Anna and I swear she used the same words with me on Friday, “You can do this Tates. Keep your eyes on the prize. Just keep going. You’re almost there.”

By the time I reached the other side of the bridge I was soaked with perspiration, but I had done it. I felt overwhelmingly exhilarated. Adrenaline and pride is a great combination (and knowing at almost 50, Mymom can still be my cheerleader is pretty awesome too).

After a lovely weekend at Hopkins, I insisted on driving home so that I could face the two miles again. This time I managed to keep a decent speed and didn’t even sweat through my shirt. I can’t say that I’ve conquered my fear of bridges, but I’m not going to let a bridge stop me from moving forward – and certainly not stop me from visiting my girl next year.

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Sounds silly, but I do feel like I’ve taken a huge step forward. Last Thursday a father of one of Jack’s classmates said something to me that’s been helping, “If you can fix it, it’s not really a problem.”

So simple and just what I needed to hear. There’s plenty in our lives that we can’t fix and I no longer want to give strength to the crap we can. A weekend at Hopkins confirmed that it’s going to be a great place for Anna and it’s not too far – and the bridge won’t kill me. The oil tank is gone and our yard is getting fixed soon (money and time won’t destroy us). We are planning fun trips with our friends who are moving. We are prepping our house so that we can move when we are ready (months, years, who knows, but we are in control). Even Finn is working on growing his hair. If we can fix it, it’s not really a problem.

Eleven years ago I never imagined that we’d be living this life, but here we are. We can’t fix everything, but we will do what we can and take one bridge at a time.

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

 

 

THISisALD.blog

I’ve now shared 13 THIS is ALD stories and I have piles more waiting to share. I will continue to post them here on Smiles and Duct Tape, but I’ve started another blog just for THIS is ALDthisisald.blog

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I‘m hoping that it will become an archive of stories for the ALD community to learn/find their people AND for doctors, teachers, therapists who want to better understand what ALD families go through AND for families who are newly diagnosed with the disease AND for us all to witness as the disease changes course. I am confident that a change coming — newborn screening, gene therapy, education — a trifecta that is sure to change the future of ALD!

I do need to brace myself a little bit when I open my email and see that there is another story waiting to be read. ALD doesn’t have many bright stories – yet. Just when I thought I knew this disease, I learn other insidious ways the disease can manifest itself and run through children, adults, families. It’s truly horrific. I do sometimes turn off the computer and wonder — Why the hell I’m doing this!?! Why not go back to just focusing on my family/our story?

Then I remember how I felt ten years ago. Our family was lost facing a disease that we didn’t know, surrounded by people – even doctors – who were as clueless as we were. I poured through the internet (a pre-Facebook world), searching for other ALD families. I found a few, but their lives where as complicated as ours and often their journeys too difficult for me to hear. Of the families I found that first year, Jack is the only survivor. That is when I walked away from ALD.

I left those letters behind and focused on getting Jack healthy and setting him up in his new world filled with special needs. I dug deep in finding the right schools and therapies and learned all the vocabulary necessary to maneuver through a world that was new to us. I also focused on Anna and Dan so that they didn’t feel like we were defined by those three letters. I also worked on myself — teaching my art classes, sharing our story (less ALD/more “special needs”), spending time with friends and family and distracting myself with some travel and more Sauvignon Blanc then is healthy (I’m not a saint folks . . . ).

Writing the book helped me regain my focus and made me realize that people didn’t just want to hear our story, they wanted to learn about ALD. That’s when I started heading back to the ALD community and found a whole different world. Sure, there are names that I’d heard ten years ago and many of the same hospitals known to work with ALD patients, but there is a new energy in the ALD community and I wanted to be part of it.

There are many people doing remarkable things for ALD. To name a few – Janice Sherwood of fightald.org, and Elisa Seeger of aidanhasaposse.org, Jean Kelley of brianshope.org and Kathleen O’Sullivan-Fortin and all the folks at aldconnect.org – these people are making incredible things happen in education, research, and newborn screening.

I thank them for everything they are doing and for encouraging me to get involved. They need as much support as they can get from our community. I’m not great at a lot of things, but I am pretty good at sharing stories.

Please check out the new blog — thisisald.blog. Share it, follow it, and share it again.

Love, Jess

 

How can you help?

If you have an ALD story, please contact me to share your story and if you want to help the cause — ALD Connect has launched an incredible program designed to help newly diagnosed families. It’s called NBS SCOUT — Supportive Community Outreach and Understanding Together. We are helping to raise money at CLICK HERE!!

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I dare you NOT to donate!!!

 

 

 

proof of progress

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Jack wanders. Unless he’s eating with the family around the kitchen island or he’s stationed on the couch in the den in front of Impractical Jokers, he likes to walk around the house. We call it “doing his loop”. He walks from the kitchen, through the dinning room, to the living room and then back to the kitchen. Occasionally, he’ll stop and acknowledge one of us with a little pat on the head, but mostly he just walks slowly from room to room. If someone rings the doorbell and makes the dogs go nuts, Jack will react by hopping up on one leg and speeding up his pace. And, if he notices the commercials on the TV have ended, he might take a break from walking and find his way back onto the couch.

Sometimes when Jack is wandering, he goes off route and heads upstairs and it takes us a minute to find him (our boy can walk up stairs unassisted, but is not able to walk down stairs without a hand). Last week I was busy doing something very important – like a puzzle or watching Dateline – when I realized that Jack wasn’t in the den where I had left him. I did the loop and didn’t see him, so I raced upstairs. I found him in our master bathroom checking himself out in the mirror. He had a big smile on his face and a Visa bill in his hand.

“JackO, what do you have there? I need to pay that dude. Go put it back where you found it.”

Jack smiled and walked right past me. I followed him and watched as he made his way into the office and laid the bill down right in the center of my desk.

Why am I sharing this? Because it’s amazing!!! It’s been ten years since Jack has followed a two part command. It’s proof of progress.

There’s more.

The other night I had some ladies over. We were all in the kitchen enjoying cocktails and catching up. I gave Jack his nighttime medication and then walked him to the bathroom to sit him on the toilet. I closed the bathroom door and returned to my friends. I was planning on giving him a couple of minutes, but may have gotten a little distracted. I was knee deep in a fascinating conversation about teenage angst, when I looked over to the doorway and there was my son. He had gotten himself up off the toilet, opened the bathroom door and found us. His pants were around his ankles, but he had pulled up his diaper. Such a gentleman – knowing there were ladies in the house.

Again – this may not sound like a big deal. It is. Huge.

Need another example?

I picked up Jack from school the other day and we were doing our usual routine of listening to music and chatting (one sided) about our day. Jack seemed bored with me and started looking for something to do. First he turned on the interior light, then he opened his window.

“Jack, your driving me nuts. Turn off that light.”

He looked at me, smiled, reached over and turned off the light.

“Wow! Jack, now close the window.”

Window closed.

The whole way home I was in shock. Did he really just listen to me? Did he just follow a command — and then another?

We pulled into the driveway, I got out of the car and I went around to open Jack’s door. I reached down, gave him a kiss on the cheek and told him how proud I was of him, “Jack, now can you unbuckle your seatbelt?”

He didn’t miss a beat. He reached over and clicked the button. Proof of progress.

That’s right folks. Progress doesn’t always follow a straight line for our boy, but lately he has been shooting ahead steadily – Jack is amazing.

But we already know that.

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Love, Proud Mama

 

 

newborn screening (can’t think of a clever title)

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This image was taken two years before we heard the word Adrenoleukodystophy.

Last week I had the pleasure of attending an ALD meeting. It was one of the most incredible days of my life. I’ve never been in a room full of people who understand our disease before. They all had stories. Many were parents who had lost their boys. Some, like me, have a son who has suffered and is living a complicated life (some lived through both). And, there were two young men who had been treated early – both in their twenties now and both doing well – exceptionally well. They sat across from me and I couldn’t stop watching them and smiling – they’re the future of our disease.

I hate ALD. I hate what it’s done to Jack. I hate what it’s done to our family. I hate that I open my Facebook feed some days and read about another boy suffering from this disease or losing his battle after fighting for years (or months). It’s brutal.

The only possibility of getting good outcome with ALD is an early diagnosis. Until recently, the only way to know that you carried the ALD mutation without displaying symptoms, was if you were “lucky” enough to have a family member diagnosed with the dreaded disease. In the case of the two young men I met last week, each had an older brother with ALD. Each of these young men had watched as their older brothers tackled the disease without any treatment. Both of their brothers died – their greatest legacy was saving their sibling.

I can’t really imagine what these families went through — caring for and then mourning one son as they moved forward with treating another. And these were early days. They were pioneers in the treatment that is now standard for ALD boys – stem cell transplant (and if you’ve been keeping up with the news about gene therapy, THAT might be changing). Because of their brothers, they were each diagnosed early and monitored yearly. As soon as there was one hint of the disease becoming active, they were treated. Transplants were a new way of treating the disease and their parents moved forward, taking advantage of the only hope possible.

Ten years ago we received Jack’s diagnosis. We had never heard the word Adrenoleukodystrophy before that day. We didn’t have the luxury of knowing and watching and preparing. We wasted time with misdiagnosis after misdiagnosis. We watched Jack lose abilities quickly, without knowing what was happening. Finally, just before Jack’s ninth birthday we were given the news and he had his transplant the following month. The transplant worked and it stopped the disease, but Jack’s life is forever tainted by ALD.

I’ve found it difficult being part of our community where Jack – with such a complicated life – is a “good outcome”. Most of the people I’ve come to know with ALD have suffered more, lost more, many have died.

Meeting Mitch and Jon – they said I could use their names – was incredible. Of corse there was a little voice inside me wishing that our family had had some warning. If we had known that the mutation was lurking in Jack’s DNA, we would have watched him through blood work and MRIs and he would have had a transplant a year or two earlier. It’s more than likely that he would be living a very typical life today had we known. He’d probably be in college now. Maybe he would have joined me last week and he would have hung out with Mitch and Jon sharing stories and laughs (FYI – all ALD boys seem to share an awesome sense of humor).

Why am I sharing this? Because there’s no reason for a late diagnosis. It’s possible today to test newborns by including ALD in the newborn screening that is already in place checking for other serious conditions. Several states have passed newborn screening for ALD and many are on their way. I encourage all of you to do your part to make this happen.

I’ve known that newborn screening for ALD had potential for saving lives and avoiding suffering, but meeting Mitch and Jon confirmed the success of early diagnosis and gave me hope that the future is bright for our ugly, wicked, crappy disease.

Love, Jess

 

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