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

ALD — crappy disease/amazing people

I hate that I know how to spell Adrenoleukodystrophy and know words like phenotype and chimerism. I hate knowing the difference between stem cell transplantation and gene therapy. I hate that I know dozens of mothers who have watched their sons suffer for months, losing all their abilities before this hideous disease stole them completely. I hate knowing that the disease that has effected every inch of my son’s life may start progressing in me.

I hate ALD — every little part of it except for one. The people!

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I just spent two days surrounded by ALD parents, patients, researchers and doctors at the ALD Connect Annual Meeting and feel overwhelmed by the love and support that filled the room. I’ve walked way feeling extremely lucky to be part of this community.

I talk about our duct tape a lot on this blog. Duct tape representing the people and things that have helped hold us together for the last eleven years. We would not have survived without our friends and family and teachers and doctors and therapists and nurses and dinners and wine. We’re so grateful and now we are adding our ALD family to the mix. At this point in our ALD journey, being part of this community is helping us take back some of the power the disease stole from our family.

The ALD Connect Annual Metting is all about learning and sharing. I have notes about different treatments and potential therapies that may lead to a cure for ALD.  I listened to how other counties are battling our disease. I heard about the remarkable momentum of newborn screening. I heard countless stories of strength and courage. I learned diapering tricks that made some people at our table cringe, but I can’t wait to try out. I shared Jack’s story, spent time with people I’ve known for years and met many who are new to our community.

Thanks to newborn screening, there is a new, quickly growing group in our community. Young families that have just learned of the disease and that their children have the mutation. These families have been thrown into our world and are holding on tightly to their beautiful children as they learn how to monitor and plan for a disease that MAY effect their child sooner or later.

Sitting in a room with parents who have lost children, parents whose children have survived treatment with varies amounts of success, and patients who are struggling every day with symptoms of the disease — I kept going from feeling sorry for these newborn screening parents to being painfully jealous of them.

When Jack was young and healthy, we had the luxury of just living. I can’t imagine having known what his future would hold. All the worry – all the planning. But, the benefit of having the knowledge that an early diagnosis provides, allows these families to prepare for the onset of the disease and will likely prevent following the same path that so many of us have been forced to follow. For two days I kept reminding these young parents that their stories will be different. They have the power in their hands to have treatments ready when/if their children need it. I also kept reminding myself that we can’t change Jack’s path, but if we can help others, we’re kicking ALD where it hurts.

 

Dan, Jack, Nonno and Mymom came down to join the Smiles and Duct Tape Book Club. I got to share our family’s story and it turned into a wonderful opportunity for many to share their own stories. Jack – as always – was a huge hit. For a kid with a lot of challenges, he always seems to have everyone around him smiling. Anna met me as the meeting was winding down, but she got to hear some remarkable presentations that further encouraged her to study hard and keep reaching for her goals.

I’m a little exhausted and need to make sense of my notes, but I’m already looking forward to the next excuse to spend time with our ALD community.

Thank you ALD people — I hate our disease, but I love the people!!!

Love, Jess

PS I was telling a friend about all the amazing people at the conference and kept referring to the newborn screening parents as the Newborn Housewives. My love of Bravo is ever-present and trust me — these ladies (and gentlemen) are as real (and amazing) as they get!!!

 

United to Beat Disease

I like to surround myself with people smarter than I am. While some people might find it intimidating, I find it thrilling to witness brilliance and like the challenge of trying to blend in. And, if I know I’m really … Continue reading

THIS is ALD #21 — Jack M.

I have known Kerry for many years through social media. We both have sons named Jack and we both know how ALD can effect every inch of every life in an entire family – even when it only takes over one body.

Thank you Kerry for sharing Jack’s story.

THIS is ALD — Jack M.

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Jack was 8-years-old when our family was at my older son’s boot camp graduation at Parris Island. Jack suffered what look like a seizure — months later we figured out it was caused by an adrenal crisis. He was taken from Parris Island to the hospital and then we took him home to Miami the next day. The doctors refused to test for anything specific, simply saying he had Epilepsy. It took several months, and lots of doctors, before Jack was diagnosed with ALD and adrenal insufficiency.

Although the doctors in Miami told us there was no hope, I put Jack on a plane and went to University of Minnesota Hospital (a leader in ALD research and treatment) to see if he would qualify for a bone marrow transplant. They agreed and Jack was transplanted using the precious cells from his brother, the Marine.

After transplant, Jack continued to decline because the cells needed time to get to where they were needed. I’ve homeschooled him his entire life and have been able to adapt all curriculum to where he is at any given time. It also has allowed us to be flexible while we continued to pursue other treatments for him. Over the next several years I took him to North Carolina to see a rare disease doctors and several other states for answers which I eventually figured out on my own. Jack’s disease finally stopped progressing 2 years post-transplant, and he was left requiring full-time care. I am his full-time caregiver. Respiratory issues and adrenal issues keep me on my feet.

ALD has not been the only complication our family has faced. We recently went through hurricane Irma and YES we are still fighting the insurance company to repair the house so we can safely live here. Three times over the last year I have had to travel to take care of my mother who has heart condition and breast cancer. All of this has been the worst case scenario — like the board game, except I don’t hold any cards. I just do whatever is needed at the moment. One step forward, two steps back. I try to just keep pushing forward. My Marine son says I would have made a great Marine — I have been through The Crucible and back.

Since my Jack’s diagnosis and transplant there have been 5 babies born in our family and one expected this July — my grandchildren. All of my grandchildren are healthy. Jack’s ALD was a spontaneous mutation (meaning it was not inherited). ALD is now part of the newborn screening panel in Florida. I often imagine if ALD had been part of the panel when Jack was born – so much of this pain could have been avoided.

So much has happened since ALD struck our family and it’s effected a lot of our lives. I have had children graduate from college numerous times and missed their graduations. I’ve missed grand babies being born. Everything is on the back burner while I care for my son 24/7. It’s also changed the lives of my seven other children. My 23-year-old is my constant help. My 29-year old Marine just receive his third degree from college in bio medical and he also runs a tutoring company that caters to Veterans and hopes to raise money for research to develop an auto injector (to administer steroids) for those with Addison’s Disease. All seven of Jack’s siblings have been contributing to ALD awareness. They have learned first hand how ALD can effect a family. My ex-husband has moved on since Jack’s diagnosis. He is remarried and started a new family and we have no contact. Another dirty side of the storm no one talks about. 

Jack is now 18. When Jack is doing well he has a good quality of life — bowling and baseball, he has even played soccer in his wheelchair. When he’s not well I count the moments and do everything I can to keep him out of the hospital and give him comfort. Sometimes I question putting him through chemo and transplant, but I know I tried and did everything possible at each step of our journey.  Jack is still here. He is still fighting and I will fight with him. I know the Lord has the last say. 

— Kerry

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Kerry is also a children’s book writer and has been a very active volunteer with political campaigns, adding to the bone marrow registry and raising awareness for ALD and newborn screening.

Thank you Kerry for sharing Jack’s story and helping the ALD community spread the word about our not-so-rare disease.

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 #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.

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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

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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.

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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 #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

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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

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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

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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