a precariously perched pile

In case you missed this on Today’s Parenting Team:


It stares at me every time I walk into the office, with a look of defiance that often makes me turn around and walk away. But when I walk away, I feel even worse. I know it will grow even bigger by the time I return. The days I feel brave enough to confront it, I’m usually struck that it isn’t quite as fierce as I had imagined. After all, it’s only paper.

I’m not sure why I allow paperwork to be my nemesis. I spend hours a day at my desk, where I often waste plenty of time writing unnecessary emails and looking through social media, trying not to let my eyes rest on the giant pile to my left. It’s bills and school notices and various “to dos” – nothing wicked. Why do I avoid it until it’s two feet high?

A precariously perched pile of pieces of uninspiring nonsense that wakes me up in the night with worry, Did I pay that bill? When are the medical forms due? Have we gotten next year’s school schedule yet? Where did I put those tickets to the show this weekend?

The only thing I can come up with is that on some level, I must NEED to have those worries keeping me up at night. I must NEED a miscellaneous assortment of silly worries to keep my brain from lingering over bigger things. Lord knows I have some bigger things that would keep me awake. Worries that I can’t simply erase with an hour or two of tackling paperwork.

When you have a child with special needs, you have a multitude more to worry about than other parents – you just do. You have all the regular parenting concerns – How is my child doing in school? Are they getting all the proper nutrition? Have they been to the dentist this year? BUT, on top of that you have the special worries – How quickly will they end up in the hospital if they get that flu that’s going around? Does that restaurant have a bathroom big enough to change my child if they soil their pants? Who would care for my child if I get sick? What will happen to them when I am gone?

It’s not to say that special parents spend every waking moment being bombarded with lingering questions. Most of us manage to get through most days without falling into the well of despair. We learn to compartmentalize our thoughts and structure our days so that they are manageable. We learn to prioritize our daily list so that we don’t get over-tired. We know that we need to stay strong. After all, we are our children’s greatest hope for having the best lives they can. If we fall apart, who would fill our shoes?

So, we stay strong and focused and, when all else fails, we do things to trick ourselves into focusing on the mundane. It’s way easier to worry about whether or not I ordered my child’s new medication or paid the electric bill, then what will happen if he has another massive seizure.

So, the next time I walk into the office, I’m not going to turn away. Instead, I’m going to sit right down with my pile of papers and thank it for being there. Then, I am going to check my Facebook feed.

Love, Jess
I am a normal mom with a “special” kid. My family is complicated AND wonderful.


THIS is ALD #19 — Alan, Cesar and Maximiliano

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My name is Kim and I’m the oldest of four children. I have 3 brothers. Angel , Cesar, and Alan. My brothers were all born healthy. Until 2016 nobody knew this horrible disease ran in the family.

December, 2015 my mom started noticing changes in my brother Alan – he was eight-years-old. He was having hearing problems and a hard time at school. My mother took him to a hearing specialist and they didn’t think anything was wrong. By May, 2016 things got worse. Alan started complaining of a terrible headache and was taken to a local hospital. They transferred him to a bigger facility, but the doctors had trouble figuring out what was going on. It wasn’t until they did an MRI that they discovered Alan had ALD.


Alan and Cesar before ALD

My parents are Mexican and speak little English. They understood the diagnosis, but had many questions. When they learned that ALD is genetic, my two other brothers, Angel and Cesar, were tested — Cesar tested positive for ALD. My parents were heartbroken.

This was the same month I found out I was pregnant. When my parents shared the news with me, I took it pretty bad. I was six months pregnant when I found out I was a carrier. I learned that, since I was having a boy, he would need to be tested as soon as he was born.

Alan’s health started going down hill quickly. Doctors told my parents Alan had very little time and there wasn’t anything anyone could do. He lost his hearing, vision, speech, and started having trouble walking. My mom became his full time caregiver. Cesar was not as symptomatic and qualified for a bone marrow transplant (BMT) which he had in December, 2016. My mother was now caring for one son who was recovering from a BMT and another who’s disease was moving quickly.

My son, Maximiliano, was born just after Cesar’s BMT and was 3 weeks old when he was diagnosed with ALD. By January, 2017 my brother Alan was in a vegetative state and Cesar was doing well and was out of the hospital. It was really hard on everyone. We couldn’t believe three people in our family had ALD, including my son. The reality really set in when on March 23, 2017, my brother Alan lost his fight to ALD – just a few days after his 10th birthday.

Maximiliano is now a year old and he’s the sweetest little boy ever. He’s so smart, always smiling, and super curious. It’s really hard for me knowing my son has ALD. Knowing ALD took my brother away from me. Maximiliano is seeing specialists at UCLA and at Santa Barbara. I’ve gotten in touch with doctors at the University of Minnesota and I plan on taking my son this summer, and seeing what they have to offer.

Next month will be a year …a full 365 days since my little brother left us. It’s been really difficult for all of us to continue our lives without him. Holidays were more sad than happy. There were a lot of ‘firsts’ without Alan. In my heart I know he’s in a much better place. He’s at peace.

I really wish Alan had been diagnosed sooner and could’ve gotten treatment. Newborn screening could’ve saved his life. I think about everything that’s happened in the last 2 years. I’m a strong believer in God, but can’t help but think to myself why did He let this happen? To an innocent child? This horrible disease ruined my family but also made it stronger.



This beautiful family lives in California, which has now added ALD to it’s newborn screening panel. I try not to spend too much energy with “if onlys”, but I am glad that future generations of ALD families in CA will have the luxury of knowing and preparing. Alan didn’t have that luxury, but Cesar is doing well because he was treated in a timely manner and Maximiliano is being monitored by a team of specialists who will be prepared to help him IF he becomes symptomatic.

Corresponding with Kim has been an honor. She has been so honest and informative. I wanted to share two other notes I received from her last week:

I forgot to tell you, when I was pregnant I would place both of Alan’s hands on my belly, and he would get this huge smile and hug me because he knew it was me. He couldn’t see, but he was still aware of his surroundings. Before he lost his eyesight I showed him a picture of my ultrasound and he told me my baby looked like a little alien! I remember he was so happy he was going to be an uncle …

The night before my brother passed away, my mom had a dream. She told me Alan appeared to her in her dream and he told her that he was going to be okay but he didn’t want her to cry. I get the chills every time I think about this. I guess that was his way of letting my mom know … the next day he passed.

Thank you Kim.


Love, Jess

the third time (isn’t always) a charm


I know that, as a woman of a certain age, I’m supposed to despise snow days. It’s part of being a grown-up to give up any longing for days that are unexpected and inconvenient. Days where you need to alter from your routine. Maybe it says something about me, but I usually love a good snow day.

I start monitoring the television and internet as soon as I hear that there’s a potential storm brewing. I drive my family nuts with updates days ahead of time and Dan laughs when the look of disappointment comes over me if we ever lose the coveted “Storm Warning” status. And, if you see me when the “snow day” call comes in from the schools, you would wonder how this woman who has trouble making it to her one-day-a-week yoga class, can bounce across a room with boundless energy.

I love snow days because it’s an excuse to hunker down with my family without structure and rules. I like making french toast and vats of soup and working on a puzzle where my only responsibility is to go outside and shovel every couple of hours. We watch bad TV and lounge by the fire AND staying in pajamas all day is a bonus that makes the whole thing perfect.

Wednesday was one of those great snow days that was called the night before so we could go to bed without alarms set. We woke up to nothing but a little wet snow. I was crushed, but kept watch for the promised thunder-snow and 12 to 18 inches. It finally got going by mid morning. At last, we were trapped together as a family with a fire roaring in the fireplace. We all had some projects to do (me – taxes, Dan – paperwork, Anna – some sort of nerdy DNA project, JackO – a marathon of Impractical Jokers), but we would meet back periodically for relaxing breaks and fattening meals.

Day one was perfection.

When we got the call that there would be another snow day on Thursday, it didn’t come with as much cheering. I didn’t make french toast and we were out of firewood. Daylight revealed that this storm had been more destructive than pretty. We lost a huge branch that missed our house by an inch (we are soooo lucky). Trees were down all over town and many of our friends were without power. The snow was heavy to shovel and Dan’s back was killing him. Suddenly I was looking at the calendar wondering when I would catch up on all my must-dos and I’d already watched all of my Bravo shows. The dogs were antsy and driving me nuts and even ever-easy JackO looked like he was going stir crazy – his Impractical Jokers weren’t even keeping him entertained.

Day two was a little lame.

Last night when my phone alerted me that they had cancelled school again for JackO, I nearly cried. Dan got to escape to work and Anna seemed blissful as she left the house for school this morning. Jack and I, on the other hand, are still in our pajamas. No fire, no french toast, and the puzzle is finished.

Day three stinks. It better not snow on Monday.

Love, Jess



THIS is ALD #18 — Margaret

If you haven’t read THIS is ALD #17, go back. It’s an incredible piece showing how ALD can weave itself through a family for generations. It was shared by an ALD mother/daughter/grand-daughter/great-granddaughter. She is also a symptomatic carrier. THIS is her story.


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THIS is ALD #18 — Margaret

I first started noticing little things, symptoms, in my 20s. The first thing I distinctly remember is the feeling that ants were crawling on my lower legs. Then I had back spasms; I’d be sitting at work and my back would knot up. I attributed it to having to sit a lot at work. But then I started visiting a chiropractor who did massages and we couldn’t figure out why or how my neck muscles used to get so tight in between appointments. I then started to visit a massage therapist, leapfrogging between the chiropractor—and my neck and shoulder muscles were still really tight, like all the time. I thought it was stress, not just at work, but my personal life was crumbling around me. I felt like a pinball, bounding from one circumstance to another for a year. I wasn’t taking care of myself, I was always fatigued, and my migraines started getting bad again.

I started having problems wearing shoes with heels in my early 30s. Now, I can only wear flats that go all around my feet (no flip flops). My feet are always numb but surprisingly sensitive. My hands are often numb too—I put them down so the blood flow is restored and I can feel again. I have little grip strength. I also have Raynaud’s Syndrome, wherein the capillaries in my fingers and toes shut when cold, so they get white and numb. I don’t know if it’s an AMN thing or a family thing.

I’ve had to get a cane to walk with so that I don’t look like I’m a drunk meandering along the walkway. I got a shower seat so I don’t fall in the bathtub. I have orthotics that go down my lower legs and into my shoes the length of my feet so that my toes don’t slip on the ground. I have an implanted drug infusion pump that puts baclofen (a medication that helps relieve spasticity) directly into my spinal column.

I have pain every day, it feels like my bone marrow is boiling. I visit my pain doctor every month. I have taken every medicine there is. I take 9 medications every day, besides the baclofen, and have another 4 I take as needed. Fatigue is a huge issue for me, both as a result of medicine side effects and exhaustion from dealing with pain.


I’ve been on Social Security Disability for 10 years — a combination of AMN, Migraine, and anxiety and depression. It took two tries over almost three years to get approved. I’ve had to be reassessed twice and will again. There’s nothing like watching your abilities slip away, knowing that this shell of a body will fail me, I just don’t know when, or what my quality of life is going to be in the meantime. I don’t mean to end on a negative note, it’s just that that’s what I’ve been dealing with internally the past few months.

— Margaret


As I’ve gotten more involved with the ALD community, one question that keeps coming to mind has been, What about the carriers (women with the gene)? There are some differing opinions on the subject, but more and more the answer is that people don’t carry ALD, they have ALD. Even women.

I won’t go too much into the science behind X-linked diseases like ALD (frankly I don’t know too much about them), but here’s a short version. In the case of an X-linked disease the mutation affects a gene on the X chromosome. Males, having only one X chromosome, are effected by the condition if the single X they inherit from their mother has the mutation (or the mutation happens spontaneously). This is why ALD is generally passed from mother to son. Females have two X chromosomes and the unaffected X chromosome should HELP their body compensate for the gene mutation. It is a common misconception that females cannot have X-linked disorders and that they can only be unaffected carriers — In truth, diseases like ALD are proving that while females tend to be better off than males (because one of their chromosomes is producing the correct protein), they can, and often do, have the disease in varying severities.

I have heard that there are cases of full-blown cerebral ALD in girls, but I can’t verify that. But, I have met several women over the last year that are clearly effected by our disease. Neuropathy, bladder dysfunction, spasticity and balance issues seem to be quite common for women with the ALD mutation, especially as they get older. Unfortunately Margaret falls into the category of “symptomatic carrier”.

Thank you Margaret for your honesty. It’s important for people to see every way ALD can effect a person. It’s also important for people to understand that ALD can effect every person with the mutation. Again – newborn screening identifies people — both genders –with the gene so that they can be monitored and treated properly.

Love, Jess









THIS is ALD #17 — Margaret, Andy and a long family history of ALD

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This is ALD #17 — Margaret, Andy and a long family history of ALD

My name is Margaret Bray. I’m 47 years old and an ABCD1 obligate, symptomatic, carrier (more on this will be posted tomorrow). Out of my three sons, only my middle son has inherited the gene. My sister is Jamie Garrison Barlow and she’s a carrier. She passed the gene to both of her kids – a daughter and her son, Bradley Hartman, who passed away last July at the age of 21. Her daughter gave birth, with a little medical assistance, to a beautiful girl on July 1, 2017, who is not a carrier. It’s a wonderful and beautiful story!

My mom is a 72 year old symptomatic carrier. She is Jamie’s biological mom also. (Jamie was given up for adoption at birth by our mom. She was reunited with Mom and met me on November 3, 1999. That’s when she learned of the family history of ALD.)

Mom and I suspect that the ABCD1 gene originated with my great-grandmother. She was as born in July 1895 in Kingman County, Kansas and was an only child. I’m not certain if she was brought up Mennonite, but that is the community in which she and her husband, who was raised Mennonite, raised their family, on a farm close to Pretty Prairie, Kansas.
My great-grandmother gave birth to 12 children, 7 of whom survived to adulthood. Their first was born in 1916. He passed away in 1922 after “a short illness,” and/or “summer complaint.” This raises all sorts of red flags for me, looking back at family history, not the least of which is the age, 6 years old, at which he passed. In all, my great-grandmother had four babies that did not live past a year old.

My mom does not remember any of her cousins presenting any ALD symptoms, but my grandmother’s siblings spread far and wide across the United States, and some family members Mom has only met a handful of times. So that leads us to believe that the only unfortunate bearers of this stupid disease were my great grandparent’s first son and my grandmother.

My grandmother was born in 1925 in the farmhouse (as were all of the babies, the Mennonite community likely had a midwife or two to assist with the births.) She tired of the farm life and longed to live somewhere else. I don’t know the circumstances that led her to be swept off her feet, but she got married, and then had my mom in 1945. Within two years after Mom was born, my grandmother grew dissatisfied with her marriage and got a divorce.

She remarried and her new husband accepted Mom as his own. They went on to have 4 boys. Their second son died from “Schilder’s Disease” when he was 6. Their oldest son was for years misdiagnosed as having Multiple Sclerosis. When a new neurologist connected his symptoms with his brother’s diagnosis, he was confirmed to have AMN. He was wheelchair bound by the end of his 30’s. He committed suicide in 1997 at the age of 46. Their youngest son had mobility issues starting in his late 20’s and was diagnosed with AMN. He died from complications from AMN in 2001 at the age of 39. Sadly their other son who was not effected by ALD, died of AIDS in 1993 at the age of 35.

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Margaret, her mother Paula Sauter and sister Jamie Barlow

I have three sons, Patrick who will be 19 at the end of February, Andy, who is 15, and Alexander, who is 2. Of my boys, only Andy has inherited the ABCD1 gene. We found this out when Andy was 5 months and Patrick was 4 years old. This was after much inner conflict and distress on my part. I’m glad I did, however, because it gave me time to research all possible avenues of medical therapy.

My husband-at-the-time and I decided to get Andy into the Lorenzo’s Oil Study at Kennedy Krieger Institute. We had to wait until he was 18 months old before we could get him in. We went to Baltimore in July 2004 for the first time. What a crash course in how to cook and how to negotiate through the grocery store! (Lorenzo’s Oil is a combination of oils, when combined with a low fat diet is thought to slow the progression of the disease) Andy stayed with the study until 2012, 8 years in all. Kennedy Krieger’s funding kept getting cut, first the MRIs got cut and I had to arrange for them in town, then the neuropsych testing got cut and it wasn’t something I could get done on my own, so we made the decision to stop being in the study.


Taken during Andy’s Make-a-Wish trip to Legoland October, 2014. Jamie Barlow, nephew Bradley Hartman, the amazing ALD hero Janis Sherwood, Andy, Patrick, and Margaret.

Life outside of the study has been interesting. I’ve been trying to teach Andy how to negotiate what he eats on a daily basis, to get him to choose lower fat options when available. He’s 15, so only so much of what I say gets heard. He gets yearly MRIs, and continues to have clear ones at that. I like to think that the L’Oil has something to do with that, but I can’t be entirely certain ever. It’s like we are eternally fated to be Damocles, with the sword of ALD hanging by a mere horsehair above us, never certain when, or if, the hair will break and life as we knew it would end and our new life with ALD begins.

— Margaret


When I first read this piece I was in awe of how thorough this family history is. It’s clear that Margaret, her sister and mother have been determined to have this research complete – not just for their family, but for others to see how a disease can wind through a family.

An unfortunate family history that shows ALD at it’s worst. Marching through a family allowing few to escape it’s grip – especially in the case of her grandmother’s family. Many lives taken too young and so much time wasted with misdiagnosis. THIS is what newborn screening can prevent.

Andy is lucky to have such a devoted mother who clearly has done everything possible to keep him out of harms way. I can’t thank you enough Margaret for sharing your family history with us and for your family’s continued support for the ALD community.

Tomorrow I am going to share Margaret’s story as a symptomatic carrier. It’s a side of ALD that many don’t know.

Love, Jess





THIS is ALD #16 — David

Today is Rare Disease Day – a worldwide event to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. I am so proud of all of the ALD folks that are in DC this week raising awareness of our (not so) rare disease!!!

Today I am sharing another story of a beautiful boy from Mexico. More proof that research, education and newborn screening for ALD is a global issue. Meet David.

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THIS is ALD #16 — David


Describing ALD in David is difficult. It’s a story that I never wanted tell, as if it were a bad dream that I have not yet awakened.

The first 5 years of David’s life were similar to any child. He was very playful and talkative with a great ability to learn new things. He was a child full of curiosity about everything.

ALD first showing it’s signs when David was 6 years-old with problems with one eye, poor school performance and unstable behavior which, according to the little knowledge of the disease in Mexico, only gave David bad diagnoses.

Knowledge of ALD in Mexico is very limited. This caused a lot of wasted time. David was only given glasses for his vision and psychological therapy for his unstable behavior. Frustrated with the initial diagnosis, we were determined to find answers. An MRI indicated that there was serious problems with the myelin in David’s brain. He wasn’t suffering from major issues until in October of 2016 (less then six months from his initial symptoms) when David had a massive seizure and that caused him to lose the ability to speak and walk.

It was another two months before David was finally diagnosed with ALD. He is the first member of our family to have been diagnosed with the disease.

We and the specialists in Mexico considered all of our options and decided to perform a bone marrow transplant (I was able to be the donor). June 16, 2017, David received his transplant in a hospital in Mexico. His current chimerism shows that the transplant has been a success.

David has lost physical abilities during the 17 months of this journey, but the child that the doctors thought would die 8 months ago is still here with us, receiving love and we all feel very hopeful that he will break the cruel statistics of children, like David, diagnosed late with ALD.

Currently David attends physical therapy rehabilitation every week. He is very brave and the desire to fulfill his dream is to participate in a children’s race.

Our family continues our fight with courage and perseverance — believing that this is the beginning of a new history.

— David Alejandro Rivera



Thank you for sharing David’s story with us today. It remarkable to have received two stories from Mexico within such a short time. It emphasizes the fact that ALD is not a disease that is isolated to the United States. Although our fight is far from over here, we have made huge strides in ALD education/research (and we are not alone – there has been plenty of research/progress in other countries) – but it needs to happen EVERYWHERE!

If you would like to help new families who have been diagnosed with our disease check out the ALD Connect’s NBS SCOUT Initiative  — CLICK HERE!

Love, Jess



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!!


I dare you NOT to donate!!!




THIS is ALD #13 — Richie and Ryan

Sharing THIS is ALD stories has allowed me to learn a great deal about the different faces of our disease. Some are hard to share, but it is important that people understand the different paths that ALD can take. Wendy reached out to share the story of her two sons, Richie and Ryan. It’s shows a different side of ALD.


THIS is ALD #12 — Richie and Ryan

This is the story of my first born, Richie. He was born in 1975. He was so bright and brought so much joy. He started developing his “tan” very early (darkening of skin is often a sign of ALD/Addison’s Disease). He did amazingly in school through the 4th grade. That is when school work started to be a struggle.  I took him to the pediatrician, who proclaimed him to be very healthy and told him to work up to his potential. When Richie started the 6th grade, I took him to an optometrist who referred us to UC DAVIS specialists.  Endocrinology residents asked if I knew who his father was, due to his dark skin!! Anyway,  he was diagnosed with Addison’s Disease and we were ultimately diagnosed with this “very rare” disease, ALD.

I met Augusto Odone, Dr Rizzo, and Dr Moser at the ULF conference that summer. Richie had his first seizure on our way to the conference. Dr Moser told me to expect the worst 6 months of my life.  Luckily, Richie started taking Lorenzo’s Oil immediately (continued through age 18) and his disease did not progress for many years. He graduated high school and worked and lived on his own for many years.

Unfortunately, the ALD eventually started to progress and Richie moved home about 10 years ago.  He is now 42, doesn’t talk, walks a bit with a walker, in our home, has caregivers 6 hours per day who bathe and dress him, and feed him. We had a g-tube (a tube that goes directly into his belly) put in about a year ago when he was not eating while hospitalized for a UTI.  We only use it for meds and fluid at this time.  We have been blessed because Richie seems happy, sometimes giggling, and does not seem to mind being cared for. Any progression seems to come slowly.


Ryan was 6-years-old when his brother,  Richie, was diagnosed with ALD. Ryan, had Addison’s Disease, but rather than having dark skin, he had always craved salt (“salt seeking” can be another sign of ALD/Addison’s Disease). When he was 2-years-old we came close to losing him. What no one knew is that he was suffering an Addisonian shutdown of all his bodily functions. It took three doctors working on him to save his life. He was on life support and not expected to make it through the night, but he survived and I thought that was the worst battle he would ever fight. 

This is why newborn screening is so important.  Had we known, we would never had to almost lose our baby. After finding out his diagnosis, Ryan took Lorenzo’s Oil until he was 18-years-old. He had MRIs yearly and never showed any demyelination. He graduated from a university, got married, and had a son four years ago. 

That is when everything started to change. He had had some incontinence problems, and then balance issues appeared. I had thought that if the childhood form of ALD did not appear, then the worst he might face would be mobility problems.  He quickly moved from a cane, to a walker, to a scooter and finally to a wheelchair all within a few years in his mid 30s. He was exhibiting a lot of anger and insisted that he had to walk again. In the last few years, being angry was exhibiting as psychiatric problems.  He attempted suicide at least twice. 

Ryan also had a large wound that ended up septic and his decline sped up. Within only months he has lost his speech, his legs are atrophied,  he can’t use his arms, and he has been hospitalized for the last few months.  I sent his latest MRIs to KKI and Stanford. Both have agreed that he has hind brain involvement, only occurring in 5-10% of ALD cases. It is known to be rapidly progressing.  Now my daughter-in-law is looking into hospice. He definitely qualifies, but you have to pay for caregivers,  and Ryan needs 24 hour care. I had no idea this could happen.  

— Wendy


Wendy shared this piece with me on January 25th. I received the news last week that Ryan lost his battle with ALD last weekend. Another beautiful life taken too soon by this monster.

Richie and Ryan’s stories are different than many I’ve heard over the years, but that’s the thing about ALD – it never looks exactly the same person to person. The only commonality I see is that these boys/men/humans are remarkably strong and that nature can be cruel.

Thank you Wendy for sharing your family’s story. The more we share the different faces of our disease, the more people will understand the importance of newborn screening to changing the future of ALD.


Love, Jess




THIS is ALD #12 — Carter

A year ago, on February 6, 2017, one boy lost his battle with ALD. Carter’s mom, Stacie, is amazing and shares his story with honesty and love.


THIS is ALD #12 — Carter


December 31, 2010 my youngest son was born. Carter Joseph, weighing in at 8 lb 1 oz and was 21 inches long, a healthy baby boy. Carter completed our family, he made us a party of four, and we couldn’t have been happier.

He met all his milestones, was thriving, just overall a very happy baby. Then the toddler years came, he was into everything, such a daredevil who was absolutely fearless. His personality was unlike any toddler his age, a typical boy with gorgeous blonde hair, big blue eyes that would cheer you up on your worst of days. That part of Carter never changed, but at age 4.5 things started to be different.

After many appointments with many doctors, Carter was diagnosed with ALD, “a too late” diagnosis left us with no options to save our baby, and for 14 months he battled this relentless disease. Month by month after diagnosis, Carter lost his abilities… sight, sound, speech, swallowing, walking, until he became 100% dependent on us, within 6 short months. ALD robbed Carter of everything.

It took a toll on all of us as we watched the boy who was scared of nothing, losing his biggest fight. Quickly after Carter’s diagnosis my whole family was tested, as ALD is a genetic disease… Carter was the only male affected, myself and my mother are the only women in the family and we are both carriers… while her VLCFA numbers were way higher than mine, it didn’t matter as I still passed it to Carter. My oldest son, Peyton (age 10) was not affected, and he very easily could have, as it’s a 50/50 chance each pregnancy. Scary odds, even scarier if you didn’t even know about ALD, yet were a carrier of such a deadly disease.

Knowledge is power, Newborn Screening is necessary — I’d give anything to know what I know now, and maybe, just maybe, I wouldn’t have had to watch my baby take his last breath at just 6 years old, and somehow continue living this life without him.

— Stacie (Carter’s mom)


Unfortunately, Carter’s story is not uncommon for childhood/cerebral ALD. If you don’t know that the mutation is lurking, and are not looking for it, ALD is often diagnosed too late for any treatment. Families are faced with helplessly watching their child’s abilities be taken one by one, before they are completely robbed of everything.

Newborn screening would have given Carter’s family knowledge and power and hope.

Thank you Stacie for sharing Carter’s story with us.


Love, Jess

college memories



On Sunday Anna went to New York City to meet up with some kids that are heading to Johns Hopkins in the Fall (they found each other on social media — kids these days…). She came home feeling like she had made some good connections. It warmed my heart thinking about her one day enjoying a reunion like Dan and I had this weekend.

Dan and I have a remarkable circle of friends from college (Goucher College and Johns Hopkins University), and we all make an effort to get together as often as possible. 50th birthday parties are the newest excuse to pretend that we’re still young and cool.

This weekend was another one of those parties and it was incredible. People came from all over the country to celebrate our dear friend Fuzzy (his parents insist his name is really Jeff, but I don’t believe them). It ended up being two days of constant festivities filled with live music, fattening food, wine, laughs and old friends from back in the day – before mortgages and diapers and other grown-up responsibilities.


On Saturday afternoon, Jack joined us around the fire pit. We were all exchanging stories and drinking more wine than 50 year-olds should (FYI – I’m 48, but who’s counting). I looked over at Jack as he sat listening to all the inappropriate stories with a smile on his face. He loves being around the energy of these events. I felt so lucky to share Jack with our friends and to share our friends with our boy.

But, today I keep thinking about him sitting there.

I keep thinking about how middle-aged Anna will sit around a fire pit with old friends laughing about college shenanigans (and fascinating lectures – right, Anna?). Then, I think about Jack.

Jack’s life is wonderful and—trust me—he has plenty of friends. I walk into Horizon High School on any given day to find my son surrounded by people. It’s as if he is holding court, telling jokes — not bad for a boy who hasn’t spoken in ten years. His life is filled with people who love him and will be in his life forever, but it’s different. He won’t ever have a circle of friends from college who knew him when he was just starting his adult life. That’s where Jack should be now, but ALD stole college from him along with his speech. I wish so badly that he could be busy making his own ridiculous college memories, not sitting with his folks and their old friends talking about theirs.

I know it’s not terrible – just different. Sometimes different just hits me wrong and this is what I do. I share. Sharing helps me make sense of things so I can let them go.

I know I am still a little exhausted from a VERY long weekend and I’m already starting to freak out about Anna leaving the nest, but sometimes I really hate ALD. Tomorrow is a new day and I’ll be fine. Jack will give me one of his magic hugs and I’ll go back to just reliving the fun memories of the weekend and counting Weight Watchers points.

Love, Jess