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


THIS is ALD #15 — Kayden and Braxton

ALD is a horrible disease that can take on many different forms. This family’s story is fascinating because it has clearly been present in their family for some time without symptoms that you might expect.


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THIS is ALD #15  —  Kayden and Braxton


We welcomed our beautiful baby boy, Braxton, into our family 6 months ago. We received a call from the hospital about our son’s newborn screening. They said not to worry, but they would like to retest. We went back a week later and retested and he was positive for Adrenoleukodystrophy (ALD).

I immediately went to Google — a huge mistake.  I felt it was a death sentence for my son. We spoke with a fellow firefighter who has a son with ALD and the first thing he said to us was we will need God through all of this and he was exactly right! We then came in contact with a mother who had a son with ALD. He was having adrenal issues. She had told me all boys die from ALD–that broke my heart. We met with our genetic counselor who then told us that this disease is either genetic or a spontaneous mutation. No one in my family has shown symptoms, but I chose to get tested to see if I was a carrier — I was. I felt like a failure of a mother. A mother is supposed to protect their child, here I was putting my child in harm’s way. It got worse when my 2-year-old son, Kayden, was tested and was also positive for ALD. I thought we could handle one case of it, but two!?!

I was heart broken and very depressed for quite some time. The more ALD families I came in contact with, the more I saw what this horrible disease can do and it scared me. Not knowing the future scared me. I had no clue where this disease was coming from — we had no family history of the disease. Many in our family refused to get tested, and my mother had passed. My sister from my father’s side (we have different mothers) offered to get tested and she was positive. The genetic counselor said it was impossible for my father to have ALD as he is asymptomatic at the age of 50.

The genetic counselor was wrong – my father was tested and was positive for ALD. Luckily he has no adrenal issues and a clean MRI. I thought wow, how amazing!!! From there, two other sisters from my father were tested and they are also carriers. A total of 4 carriers (if a father has the mutation, his daughters will always be carriers). My other sisters do not have children, but are very grateful they know. While researching our family history we found that we had an uncle over 60 years ago who had Addison’s Disease, but he passed of old age. The rest of our family members refuse to get tested as they live in the mind set that many generations have had this and everyone is asymptomatic and they will handle it if something happens (I hope it is not too late by then). My family so far seems to be an example of living with a deadly disease.

Braxton and Kayden are seen by Dr. Raymond in Hershey, PA (a doctor with a huge amount of experience with ALD). They will have MRIs and get their adrenal glands checked every 6 months. I no longer live in fear now that I have a plan set up to monitor my boys with a doctor very familiar with the disease and I do have strong hope that many can survive this unpredictable disease and that hopefully my children will follow a similar path to others in our family.


I have become close with many families that have experienced ALD or are now experiencing it. I have as well started a support group for families in which has grown over the past month. This journey is not what I expected for my life, but it has strengthened my faith in God and made me cherish the days all the more and stress less about the small stuff. This is not the end for us, but a new beginning with a different perspective. We plan to have another child and we have a 4 year-old daughter (they will not test her until she is of age to have children). I am beyond grateful for the newborn screening in PA and pray everyday for a cure!

Thank you for listening to our story!

— Jennifer


Thank you Jennifer for sharing your family’s story. “Unpredictable” is such a perfect word to describe ALD. As your family proves, it can present itself in many different ways – including limited/no symptoms. My hope is that Braxton and Kayden will follow the family tradition and live their lives enjoying good health and no (or few) signs of ALD.

AND, I am so happy that Pennsylvania has ALD on the newborn screening panel and that you are blessed with the knowledge you need to monitor your boys so closely, as this disease can be very unpredictable even within a single family. Knowledge is power!

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

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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, and Elisa Seeger of, Jean Kelley of and Kathleen O’Sullivan-Fortin and all the folks at – 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 — 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

THIS is ALD #11 — Marty


I’m hoping that THIS is ALD is helping people better understand that Adrenoleukodystrophy doesn’t always follow the same path. There are several phenotypes of the disease – Jack’s form is childhood/cerebral ALD. There are also people with the same genetic mutation that are completely asymptomatic or develop adolescent ALD, just adrenal insufficiency, or AMN – a form that generally progresses more slowly than childhood ALD and effects adults.

I’ve wanted to share an AMN story to help show a different form of our disease. Thank you Marty for sharing your story with us.

THIS is ALD #11 — Marty


My name is James Martin Luczak Jr. and I recently joined the fight for Adrenoleukodystrophy prescreening so nobody else needs to experience life the way I did.

I have AMN – that’s adult onset ALD. My symptoms started showing around age 25. First a struggle with urinary incontinence and then a limp – I started dragging my left leg. Suddenly, I couldn’t work an 8 hour day so I saw a chiropractor, and he said he couldn’t help. I saw a neurologist, and she took x-rays of my spine and sent me to a neurosurgeon. They saw a ruptured disc, so we fused them. Things only got worse after spending two weeks in a hospital bed and two more at home. Atrophy set in and physical therapy provided only a marginal improvement. I had left the hospital with crutches and continued to use them for over 10 years. Last year, I decided my hands and shoulders needed a break so I now use a wheelchair. From the waist down my legs are now useless. Lots of muscle spasms. Very painful and awkward. I’ve self-catheterized for almost 10 years. I had carpal tunnel surgery in both hands. I have a terrible memory and slow fragmented speech.

I’ve been struggling with these health issues for the last 20 years with no formal diagnose until recently. I was on what doctors refer to as a “diagnostic odyssey”. That odyssey was funded primarily by tax payers. 100k back surgery, multiple treatments, and visits to doctors and specialists. Treating symptoms instead of finding the root cause. Treating symptoms without the proper diagnosis can get very expensive. Conservatively speaking, My odyssey totaled over a half million dollars.

Today I’m 47. I got my diagnosis at age 44. What’s important to know is the way I was diagnosed. November 2014, my niece moved to NY in the 8th month of her pregnancy and gave birth to a baby girl. That baby was screened for and tested positive for ALD. A few months later, after reviewing a chart of symptoms, I noticed they mirrored mine and I became suspicious that I too had ALD. After testing, it was confirmed the following June.

Had my niece not moved to NY, I’d most likely live the rest of my life without knowing and continuing on an odyssey or even worse… Giving up. Having said that, I’m here today, more aware than I’ve ever been in my life. All because of people like Janis Sherwood with Fight ALD, Patti Chapman with The Myelin Project, and Elisa Seeger with Aidan’s Law. I must thank them because without them and their determination, me & my family would not know that there is a killer among us (that newborn screening test didn’t just expose my disease, but my mother, sister and niece all discovered they too have the mutation). And, when there’s a killer among you, you arm yourself. My ammunition in fighting ALD is knowledge. That’s what this fight is about. Knowledge.

— Marty



Marty, Elisa Seeger and Janis Sherwood


There’s a theme running through many of the THIS is ALD stories – newborn screening provides hope and knowledge and as Marty points out – SAVES MONEY. Unfortunately, when it comes to persuading states to add a disease to the newborn screening panel, it needs to be proved that not only will it improve the quality of life for patients and save lives, but that testing for the disease will be cheaper than NOT TESTING. Marty is proof of how expensive a “diagnostic odyssey” can be. Jack is proof of how expensive a late diagnose can me. Between his treatment, special schooling, Social Security, Medicaid, etc – Jack’s ALD has cost tax payers well over $2,000,000 to date.

Thank you Marty for sharing your story and for becoming an active participant in the fight to change the future of ALD. I look forward to meeting you in person and introducing you to Jack!

Love, Jess









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