the bearded boy . . . man



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


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.


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 ALD #10 – The Waterman Boys

I am heading to Brooklyn for a conference tomorrow  — ALD: Identifying Standards of Care. Looking through the agenda, I couldn’t help but get excited about once again meeting some of my heroes. Doctors, researchers, and parents who are actively making a difference in the future of ALD. For me, it’s like going to the Oscars, minus the gowns and red carpet.

Pouring through the list of speakers, I noticed a name that looked familiar. Then, I looked again at my computer. On my screen, right beside the agenda, was my next THIS is ALD story — The Waterman Boys.

Kelly Waterman is speaking tomorrow and she had just shared her family’s story with me. It’s an incredible story full of luck and love and the power of change.



THIS is ALD #10 — The Waterman Boys


My husband and I live in New Jersey but we both have both worked at an oncology hospital in Manhattan for many years.  I have done most of my own doctoring in New York City and I suppose for something as big as having a baby I just felt more comfortable having my children in NY.  

We were so excited when we got pregnant with our second son and that my pregnancy went so smoothly.  Our first son Jalen had been born two months prematurely four years ago and though he’s turned out wonderfully-the experience of having a preemie and the NICU was hard to forget.  Kylar was born ten months ago full term via c-section, was a beautiful baby boy and did so well we even went home one day early!

We had been home a week, had just settled in when we received a phone call from the pediatrician at 430pm on that Friday afternoon telling us that Kylar’s newborn screen had come back for something called ALD and that we needed to go get confirmation testing done to just make sure.  Our pediatrician wasn’t too sure even about the details of what we were discussing.  I quickly called genetics at Columbia and got us in for that coming Monday morning.

During that brutal weekend that felt like an eternity of googling and many many tears, I had been talking with my cousin who was a pediatrician herself in Massachusetts about what we had been told.  She then ended up discussing our situation with one of her nurse co-workers that Saturday who happened to have previously worked in clinic with Dr. Florian Eichler- an expert in the field for ALD.  She offered to put me in contact with him.  It ended up being such an amazing coincidence.

Dr. Eichler so generously spoke to me (remember this was a Saturday and I was a stranger who was half talking half crying the whole conversation) and discussed that we would need confirmation testing but that the test was good so to brace myself that my son did in fact have ALD.  He also discussed that if confirmed my then four-year-old son would need to be tested as well.

That Monday I decided that I was going to bring my four-year-old with us to that genetics appointment.  I knew that I was never going to survive waiting weeks to find out if not only the baby had this but him as well.  Thankfully they agreed to draw my older son’s blood also.

One week later it was confirmed that both Kylar and Jalen had ALD.  We were devastated.  I was already so upset that our sweet new baby likely had this but that not only had Jalen survived the preemie experience but now this.  I was grateful for the fact that I already had Dr. Eichler as a contact and we rushed Jalen to Boston where thankfully his MRI of his brain was normal.  

We also found out that Jalen my older son has Addison’s (the adrenal insufficiency that commonly occurs with ALD) and requires daily steroids as well as stress dosing and at four months that our sweet baby Kylar also already has impaired adrenal function however not to the extent of his brother yet.  

So as crazy as all this has been finding out when you have a brand new baby that both your children have a rare life threatening disease-it’s not been lost on us just how lucky we are that all the pieces to this puzzle have lined up just right to save our boys.  If we hadn’t had a second child or in NY we never would have known about either boy and certainly would have been much worse off.  ALD being on newborn screen in NY state wasn’t initiated until one year after Jalen was born so he had just missed or if they were born in our own state we reside in of NJ we wouldn’t have known either.  We also are so lucky that Jalen never went into an adrenal crisis as that can be life threatening as well.  

We try our best to live our lives full of love for our boys and ensure their happiness.  As a mom it’s hard not to always worry but we try to keep our focus on the positives and how if this had to happen just how lucky we are.

— Kelly


Hope and knowledge should not be provided on a state by state basis. I’m thrilled for the Waterman family that they delivered their children in NY and have the knowledge they need to provide the best opportunities for their boys, BUT what about the boys born in another state?

If the Waterman boys had been born in NJ (which is not yet testing for ALD – hopefully by the end of 2018), the first time the Watermans would have heard the word Adrenoleukodystrophy would have been in the middle of a crisis – perhaps too late to do anything to help their beautiful boys.

More proof that Newborn Screening for ALD needs to happen everywhere! Wonder where the US is in the process of adding ALD to Newborn Screening?


Thank you Kelly for sharing your family’s story and I look forward to meeting you tomorrow!!

Love, Jess



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.



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


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


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


things come in threes – PLEASE!


Things come in threes – I hope. The truth is that I’m not sure I can take a number four if it presents itself. You guys might find me roaming the streets of Maplewood, screaming obscenities.

I’ve said that I don’t believe in karma or fate or destiny, but I’m starting to believe in really bad luck. I might need to start carrying around a four-leaf clover or wearing a horseshoe around my neck.

2018 is not off to a good start.

1.) The stomach flu — It seems to still be lurking around the house, waiting for the next victim. And, apparently it doesn’t come with the whole “you develop an immunity to it” thing, because I had it twice. I’m all for losing weight quickly, but this is a little ridiculous.

2.) Burst pipe — Still not resolved. We were able to isolate the problem and I was proud of myself for being so calm and cool with the plumber, “Please, take care of any emergencies first.” NOW I wish that I hadn’t been so cool. It’s been over a week.

3.) No heat — We woke up this morning and it was freezing. Dan and I both fooled with the furnace, but it wasn’t budging. I called the oil company and then got to go through our morning routine wearing a coat, mittens, hat and Ugg boots. Thank goodness Jack has a sense of humor and loved watching his mama try to make breakfast with mittens on. Once he got on the bus and my distractions were gone, I had time to really freak out. I kept thinking about our pipes as I watched the thermostat lower. I had every faucet dripping and space heaters in the bathrooms. I called Dan at the office by mid-morning and started crying, “2018 must be cursed!”

Four hours after leaving a crazy message with the oil company (cool Jesse was long gone), my hero arrived and was able to fix the problem. We were out of oil — don’t laugh. The house is warming up, but it’s going to take a while before I warm up to this new year.

I realize that none of these things are tragedies — but come on!! I’m tired and have stuff to do.

Okay. I’m done complaining. I’ll slap a smile on my face and go out and face the day.

Love, Jess




THIS is ALD #6 — Donovan


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


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 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!?!!!


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.


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;(











Two-Armed Sister Clutch


You’ve heard from me for ten years. Now, it’s Anna’s turn. When it came time for her to write her college essay I was excited to help, but like all things academic, she insisted on doing it on her own.

Two-Armed Sister Clutch

        I have to hold his torso carefully so that he can’t bite me. For years, as my brother has gotten stronger, my technique has evolved from a simple shoulder hold into the now perfect “Two-Armed Sister Clutch.” My dad takes care of his head to keep it propped up—after all, the neck is the most important part. After ten minutes of very cautiously carving away at his beard, the world’s brightest smile emerges from his newly exposed face. I’ve just shaved my nineteen-year-old brother for the third time this week; my favorite chore with my favorite person.
        A sharp automatic razor and Jack—that’s my brother—make for a very interesting endeavor. But despite the chaos of the project, it always gets me thinking clearly. I think about the disease that forced its way into Jack’s brain ten years ago and made him this dependent on me, and about the fact it has been TEN years. I think about who he was before his disease—my typical big brother, goofy and in love with life. I think about who he is now—my silent and disabled big brother, goofy and in love with life. And finally, I think about who I am, and who his disease has made ME.
        Shaving my brother is a difficult task. I start off by trimming the top layer of the every-so-gnarly hairs. The first layer of Jack’s story is one very long word (the first word with more than six letters that I ever learned): Adrenoleukodystrophy (ALD). That is the neurodegenerative disease that turned my family from one straight out of a J. Crew catalog to the very quirky, “special” family that we are today. I was six, Jack eight, when he was diagnosed with ALD and his brain function slowly unraveled. Suddenly, my brother’s voice wasn’t around to fill up my house with jokes and curiosity. Suddenly, I had to be the athlete of the family…and the social butterfly… and the nerd. And now, a decade later, I am a hop skip and a jump away from being a professional groomer, too.
        After I trim Jack’s beard, its time to crank the razor up and dig down through all the brush, rounding the jawline and inching in to each crevice. Shedding that hair makes Jack look so presentable,… so professional… so normal. I get flashes of Jack Torrey as an adult (Doctor? Lawyer? Artist?), walking the streets of a big city, wife and kids by his side, living a normal life. I see myself meeting him for a bagel and talking about our careers, our friends, or our families. Sometimes I just picture us talking. It has been ten years since Jack last spoke.
        Luckily, my feeling sorry for myself is quickly interrupted by the most amazing laugh to ever exist. The disease that stole Jack’s words and independence did not manage to steal his laughter. I look at him and see what that sweat-inducing work out really uncovered: a giant, radiating smile. I let go of him and he wanders around the kitchen, slowly making his way back to me, tongue out and eyebrows raised, to give the best hug any sister has ever gotten from their big brother. That is Jack’s way of saying thank you.
        I’ll never have a typical sibling to show me the ropes of life and gossip with when I’m older, but Ill always have Jack. I’ll have his smile to tell me to always work as hard as I can. I’ll always have his laugh to encourage me to give back to other people and other families. I’ll always have his hugs after a lacrosse game or job interview gone wrong. And, I’ll always have an escape when I want to think about these things all over again—after all, that boy could always use a shave.

Anna Cappello Torrey
Johns Hopkins University Class of 2022 (we just got the news!!)


Love, Proud Mom




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.


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.

old 4

        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.


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 if you are interested in sharing your ALD story for THIS is ALD.