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





i’m one of THOSE people

It comes out of nowhere. I think I’m okay, but then something hits me and I feel my heart ramp up and I start sweating uncontrollably. My hands grab the steering wheel so tightly that I worry I might never be able to let go. I’ve tried making sure that I’m in the middle lane, with no view over the edge, but it doesn’t seem to help. Just knowing I’m on a bridge is enough to give me in a full blown panic attack.



Years ago I had a little bout with Gephyrophobia and started to avoid routes that would take me over bridges. I even found out that you can arrange for a person to drive you over a bridge if you call the bridge authority in advance. I became rather obsessed with this option. Thank goodness my mother seemed to have the right approach to curing my fear, “You’re being ridiculous. Just get over this Jess. You can’t be one of THOSE people.”

I slammed down the phone that day, angry that my mother hadn’t been cozy and sweet, but the next week when I drove over the Delaware Memorial Bridge, I got to the other side without so much as a jitter. And, I’ve gotten through the last twenty-five years, and a whole lot of bridge time, with no problems – until recently.

While driving over the Tappan Zee Bridge last week, I could’ve caused a major accident and I had my whole family in the car. I knew the bridge was coming, but there was no easy place to pull over to have someone else drive. I also didn’t want to be one of THOSE people. Instead, I stayed silent but, as soon as the bridge was in site, I suddenly lowered my speed dramatically and drove erratically straddling two lanes. Dan looked over at me and asked what was wrong. I couldn’t speak, but he could see as the color drained from my face and the sweat started dripping from my hairline. He tried to grab the wheel from the passenger side, but that made things worse. Anna was screaming from the back seat to stay in a lane and speed up, but I couldn’t manage either. I was having a panic attack. We did make it to the other side, but it was enough of a scare that I realized that it was time to do something about it.

I’m not sure what’s happened that has me revisiting this fear. I’ve digging deep trying to figure it out. Am I mis-directing anxiety? Am I just broken?

I spoke to my mother about it. and even reminded her of her harsh advice that cured me last time. She tried being firm, and then tried “full-blown cozy mom”, but nothing did the trick. Even talking to her about it made me start sweating. It’s like I have something stuck and I can’t quite figure out what it is.

The first time I dealt with this fear and learned the word Gephyrophobia, I was in my early twenties. I was finishing college and struggling to figure out my next move. I loved Baltimore, but my family was in NJ and I was dating a guy in Boston. And, I wasn’t just conflicted about where to move, but I had no idea what I was going to do for work post graduation. Being an Art Major was wonderful, but it didn’t exactly create a natural plan for my future. I’ve always assumed that my fear of bridges at that time was my body’s reaction to the underlying stress.

If that’s true, then maybe now I’m going through a similar period in my life  (although I am a different dress size and my hair now requires a ton of attention to stay blonde). Maybe my body is once again reacting to the stress surrounding so much change. Anna is heading off to college soon, Jack is getting closer to graduation himself, and Dan and I are trying to figure out when/if/where to move. This might be more than my body can handle and it’s decided to – once again – freak out every time I’m driving over a bridge.

Maybe that’s it — the fear is a result of stress. Maybe if I confront the stress directly, my Gephyrophobia will disappear like it did in my twenties. I do feel a little better, but I am still nervous about the next time I’m faced with a bridge while I’m behind the wheel. Is just knowing the source of a fear enough to set it aside?

All I keep thinking is that there is one very long bridge on the drive to Johns Hopkins…

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

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