Do us a favor

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Two people who share one disease

 

Today is Rare Disease Day. Please take the opportunity to celebrate by sending off letters to help pass Aidan’s Law. It’s time for every newborn in the country to be tested for ALD. This life-saving test shouldn’t be available depending on your zip code.

I look forward to a day where ALD is not the disease that Jack faced 12 years ago.

This will take you less than 2 minutes and will save lives. 

https://actionnetwork.org/letters/letter-to-congress-to-pass-aidans-law

Love, Jess

 

 

THIS is ALD #25 — Grady

Ten days ago I got a text from a dear friend from MA, “Watching the news on NBC – it’s about newborn screening for ALD.”

I stopped what I was doing, went to the computer and Googled — NBC, MA, ALD and this popped up.

CLICK HERE

I thought, What a great ALD story! I should reach out to this mom. Within a day, we found each other — ALD is a small world (and thanks to social media, it’s getting smaller every day). We exchanged notes on facebook, emailed back and forth, and then spoke on the phone. For me, it’s like talking to an old friend when I find another ALD mom. I asked her tons of questions and let her share and vent. Of corse, I also asked her to please let me share her family’s story on THIS is ALD.

THIS is ALD #25 — Grady

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I thought he had too much wax in his ears. That’s how this started, wax. My boys always have gross waxy ears, no matter how much I clean them. Pretty gross right? I thought Grady couldn’t hear me well because of waxy ears. 

So after about two weeks, I decided to bring Grady to his pediatrician. She checked and they were clear. We proceeded to do a hearing test. He passed. Gut punch #1. 

His pediatrician suggested we follow up with ENT. I asked if it could be neurological. She didn’t think so, everything else was perfect. About an hour after we got home, she called me saying, “You are not an alarmist with the kids, let’s see an ENT today”. 

She got us in and he passed most of the exams. Gut punch #2. I knew something bad was coming. My husband and I took Grady to Boston Children’s Hospital right from the ENT. I felt like we had to push to really get them to listen. Neuro came and did a consult. Grady’s so strong. A crazy NATURAL athlete. How could it be his brain? Physically he checked out perfect. Then, the doctor asked, “What is 3×4…” Grady said, “Football”. Now we were crying. Something was really wrong. 

They came back and said they felt he was fine to go home, and out came Mama Bear. We told them we did not feel comfortable bringing him home. Twice. We told them SOMETHING is wrong with our son. I begged to scan him then. Sobbing. They felt a scan could wait and would book it in the weeks to come. 

So we went home. Sick to our stomachs. 

The next morning I woke up, called the pediatrician, and told them that I was bringing Grady back to Children’s and I wasn’t leaving until they scanned him. Long story short, a few frustrating hours later, they did. Gut punch #3…….and the death of the “old me”

They told us that they believe that Grady had ALD. What the hell is ALD?!? I Googled it, alone in the “quiet room” after an ER doctor told me not to. Google was obviously lying because there was no WAY my football and basketball obsessed boy was going to die in 1-5 years — slowly deteriorating to vegetive state, to death. No way. Someone was was wrong, and they wanted me to call my husband and tell him this?? Part of me died then. 

We lived 5 days — well not lived, we walked around somehow and tried to take care of the kids, while in the back of our minds we were thinking about losing our son. Then, we met Dr Eichler and Catie Becker. Two angles who told us that we would not lose Grady. With a Loes score of 10, they felt that perhaps Grady might lose some hearing, some vision, he might have a change in his gait. We could handle anything as long as he was with us. With newfound strength we got ready to fight. 

We met angel #3 a short time after — Dr Christine Duncan at Dana Farber. Grady ended up with an amazing 10/10 unrelated bone marrow match right away. Grady’s brother Colin tested negative for ALD and everything went just so fast from there. 

Admitted to the hospital on 9/11/18 and met what came to be some new “family” members (his loving nurses) and chemo started the next day. Grady was a rockstar. Me, not so much – I dubbed myself “the neurotic mom in room 613” . He was transplanted 9/20/18.  Celebrated his 8th birthday on 10/2/18 and also started engrafting that same day. We were home 10/11/18.

The fear really set in when we got past transplant, but there was still this ALD we had to process. Every little thing Grady did I was so scared…is this progression?  He blinked 3 times more than he did 5 min ago….is this progression? Every single day that kid was outside throwing the football. Making one handed catches. Working out to get his strength back. I still panicked over everything, even though I was told by his NP, “If he is out there making one handed catches, you have no right to worry about progression “. 

I still did.

We were also trying to come to terms with some signs of ALD that presented post transplant, like an Auditory Processing Disorder. Grady can hear us, but he stuggles to understand language. Luckily – that’s his ONLY deficit. He is a miracle boy!

Other than not really looking like Grady from all the prednisone and stupid hairy cyclosporine, he is still the same Grady, but he is angry.  So angry, and rightfully so. Some days are better than others, but he is here and doing amazing. 

Grady’s follow up MRI was also a miracle. Not only was there no progression, but his lesion has also gotten smaller. They are not sure why, and have only seen this once before, but smaller. Miracle. We also found out that I am not a carrier. Grady spontaneously mutated. More crazy to add to our story. 

We still have a long road ahead of us. We have had a couple readmissions that seem to come with the BMT world, but he is doing amazing. There is hope – so much hope.  

This disease is awful, but if he has to have it, I’m glad to have found the people I have in this ALD community. The Smiths might be one small family, but we are joining the cause and going to help do big things!!!

#NBS #ALDawareness #toughtimesdontladttoughpeopledo #yougottabelieve 

💙

— Jillian

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Jillian is amazing. Without her determination to get answers, it would have taken weeks or months to get the proper diagnosis. If you have followed any THIS is ALD stories, you know how important an early diagnosis can be. I’m not actually sure of when (or if) Jillian sleeps, but Grady is one lucky kid to have her as a mom and the ALD community is lucky to have her on board. She’s only five months into this journey and already she’s determined to dive into sharing her family’s ALD story and raising awareness for our (not so rare — about 1/15,000) rare disease. Since she sent me this story, her family was on the news again. 

With the Super Bowl just days away, all you Patriots fans will love that Julian Edelman is a fan of Gradys — just like the rest of us!!

CLICK HERE

Jillian — Thank you for sharing your family’s story and we look forward to watching Grady’s progress as he moves on with his beautiful, sports-filled life.

Love, Jess

 

 

THIS is ALD #22 — Alexis, Gerald and Jacob

It’s been a while since I’ve shared a THIS is ALD story, so I reached out to our ALD community. Within a few minutes I heard from several families willing to share their stories. The first is from Kiomara.  

THIS is ALD #22 — Alexis, Gerald and Jacob.

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When I was 8-years-old, my 6-year-old brother Alexis suddenly lost his vision. After a long week at the Puerto Rico University Pediatric Hospital, the doctors told my parents that my brother had Adrenoleukodystrophy (ALD). My parents traveled with my brother to Baltimore, MD where they met with Dr. Hugo Moser and Dr. Raymond (leaders in ALD at the Kennedy Krieger Institute at the time). They were told that it was too late for a BMT (bone marrow transplant), but Alexis started taking Lorenzo’s Oil (a mixture of oils thought to slow the progression of the disease). Alexis stayed with us for 12 years, until he lost his battle when he was 18-years-old.

It was a terrible loss for our family, but my sister and I say that Alexis saved his two nephews’ lives. My 31-year-old sister has a 7-year-old son. His name is Gerald. He was diagnosed with ALD at birth because we knew that we were carriers. I am 33-years-old and I have an 18-month-old son named Jacob. When he was born I requested that he be tested for ALD and two weeks later I was told that Jacob tested positive for ALD.

Now we have a long way to go to prevent this disease from winning. Trusting in God and with our angel, Alexis, we know we will win. My sister left Puerto Rico and now lives in Massachusetts and my nephew is evaluated every 6 months by Dr. Eichler (a leader in ALD at Massachusetts General Hospital). I live in Georgia and travel annually for Jacob to be evaluated by Dr. Eichler. Thanks to my beautiful brother, my son and nephew are being monitored and will be treated early if there are any signs of active disease.

I hate this ALD, and don’t want to lose anymore boys in my family to this horrible disease. 

— Kiomara

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Learning about Kiomara’s brother Alexis and how he saved his nephew’s lives, made me think about the importance of Newborn Screening. Newborn Screening is a huge topic in the ALD community. ALD is currently on the Newborn Screening Panel in 10 states, will be testing soon in another 5 states and are mobilizing efforts in 12 others. Why is it so important? Because it gives the power back to the family. 

Without an early diagnosis, Alexis was not able to be treated and the disease continued to progress. Because the family knew to look for ALD following Alexis’ passing, Gerald and Jacob had the luxury of an early diagnosis. Their families are working with a top ALD doctor and the boys are being closely monitored. If there is any hint of the disease starting to progress, they are prepared to begin treatment quickly — before significant damage can occur. Looking at the photos of these beautiful boys, I’m grateful that their stories will be different than many with ALD. They are the future of our disease. A future that is far brighter than past generations.

Thank you Kiomara for sharing your family’s story.

Love, Jess

THIS is ALD #20 — Manh Cuong

 

When I reached out to the ALD community to share their THIS is ALD stories it’s mostly been mothers who have responded. I appreciate all of the input from mothers, but I’ve been wondering about the rest of the family. When ALD strikes, it doesn’t just strike the person and it doesn’t just strike their mothers — ALD strikes the entire family (the entire community if you live in a place like Maplewood). Tra My reached out to share her brother’s story and I jumped at the chance to share it with all of you. Meet Tra My and her brother, Manh Cuong.

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This is ALD # 9 — Manh Cuong
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This is my brother’s picture soon after he was diagnosed with ALD in September, 2000. We lived in Hanoi, Vietnam in a happy family with my parents. My brother, Manh Cuong, was born healthy in 1992 and he was a smart, funny and kind child. He loved playing football and drawing. He was a very clever boy, as my Mum would often say.

The symptoms of ALD started in the beginning of 2000. Manh Cuong grade’s slipped and he wrote badly as his vision declined. Unfortunately we didn’t get the right medical advice at that time, so we just thought that he was naughty and the bad writing was normal for a small and active eight-year-old boy.

We were wrong. An MRI showed that his brain’s white matter was damaged widely and only one doctor in Vietnam could conclude that it was ALD. The disease had progressed so fast that we couldn’t do anything. A bone marrow was too expensive to afford and too risky.

My mother is a brave woman. She took my brother to Paris with the hope that maybe a hospital in Paris may help. When they arrived in Paris, my brother could walk and within a month he was forced to sit in a wheelchair. When they came back to Hanoi, he quickly lost his ability to communicate. It was too late to do anything.

From the period that my brother became ill, until he lost his consciousness, he was always a kind hearted, funny and positive person. He encouraged my parents not to worry about him, he will get well soon. I still had hope that one day he could be healthy again so once in a lifetime we could see the sun together again, play Legos again.

My brother lived two and a half years after he was diagnosed – one of those years in a coma. He got his wings in May, 2013. He was ten years old. For us, his death wasn’t so bad. We are grateful that he doesn’t suffer any pain and has been released from a vegetative state – he is free. Grief hasn’t killed us, but made us stronger.

I am also a ALD carrier, but the situation is better now. I live happily with my husband and my daughter. My partner knows about my mutation and if we have a second baby, there is newborn screening in Singapore. ALD gives me chances to meet people like us, sharing information and medical aids and the boys could have better chances to live. Recently, I’ve started searching and searching to get more sources of information. In Vietnam, some families asked to share their story, avoid talking about it. I think differently — the more we share our situation, the better results we get so I am very open to talk about ALD.

My brother’s tomb is in the family cemetery. We visited him quarterly, bringing him roses to remember him, keeping in mind that we must be brave and live positively. We always love you Manh Cuong.

– Tra My

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Thank you for sharing your brother’s story with us, Tra My. Getting a sister’s perspective is interesting and your love for him is beautiful. Another fascinating layer of the story is that your family lived Vietnam and access to doctors who could recognize and understand our disease was limited. Your mother was brave to have done all she could do to find treatment for your brother, but time is limited with ALD — once it starts, it moves so quickly. Education for ALD needs to improve not just here in the States, but around the world.

Further proof that newborn screening needs to be accessible in the US and around the world so that we can change the future of ALD for everyone.

Love, Jess

 

 

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.

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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.

—Kim

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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

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.

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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

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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 #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

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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

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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

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.

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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.

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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.

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THIS is ALD #12 — Carter

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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)

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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