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 LEUKODYSTROPHY #24 — Ethan

For most people, Facebook is all about travel pictures, political comments and dog videos, but for me it’s largely about connecting with the ALD and other Leukodystrophy communities. Last weekend, I stumbled on a post from a mom that I wanted to share. Much of the focus on our diseases lately has about getting an early diagnosis and the newest treatment options. It’s important to remember that some of our families have been living with ALD and similar diseases for a long time. It’s not as thrilling as the new stories, but our boys are beautiful and important too.

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THIS is ALD (ish) #24 — Ethan

9 years ago, Ethan’s father and I were sitting in a neurologists office listening to a doctor tell us, “Your son was misdiagnosed with Cerebral Palsy. He actually has an unknown leukodystrophy – a very rare disease that is progressive”. 

I’ll never forget that day. The doctor had no bedside manner and told me not to Google the disease because awful things will happen to Ethan and then he will pass away. I left that appointment feeling helpless and hopeless. The doctor’s words played over and over again through my head as we drove home and I cried on the highway. I remember looking back at Ethan in his car seat all smiles and happy, not knowing he was very sick. 

For over a year, I let that doctor rule my thoughts “Ethan is dying  — the doctor basically said there is nothing we can do, “Don’t Google the disease”. I would have constant nightmares about Ethan’s funeral and wake up in a panic. I would check on him while he was sleeping to see if he was still breathing. 

A couple years later, we finally met Dr. Eichler (the director of the Leukodystrophy service at MassGeneral Hospital for Children) who has given us nothing but hope and a positive attitude. He genuinely loves Ethan and has never once said, “Awful things will happen to him.” Or, “He is going to die.”

What Dr. Eichler does tell us is, “Look how far he’s come” and, ”Yes this disease is progressive, but Ethan is a fighter”. Ever since meeting Dr. Eichler my outlook on Ethan’s disease has changed. When a doctor actually looks you in the eye, answers your questions, hugs your child, laughs with your child, checks in with you via text, email and phone calls, then you know you have the right doctor. 

Shame on the doctor who gave Ethan a death sentence and no hope! Guess what? I Googled his disease and ended up connecting with amazing families all over the world who share the same life we do. Connecting with other families has been a wonderful experience. Seeing all their pictures and how loved these boys are by their family and friends like Ethan, makes me so happy. And now Dr. Eichler introduced us to another amazing doctor, Dr. Rodan, who has helped give Ethan a better quality of life! I’m so happy these two doctors never gave up on Ethan and I’m so proud of my boy who continues to fight and has an incredible will to live. ❤️

A couple of days later, this mom wrote something else on Facebook that took my breath away . . .

Ethan ten years ago. Before wheelchairs, seizures, helmets, daily medications, and intrusive medical procedures. But some things haven’t changed: Ethan’s giggle, his funny jokes, his amazing personality, his hugs and kisses, his “I love you momma”, his ability to make any task fun, his will to defy the odds, his outlook on life, his ability to live in the moment. All the medical issues might be happening to Ethan, but he doesn’t let them define him or change him. Ethan is still Ethan, he’s my son, he’s my everything. Love you Super Mario boy!

— Jennifer

Thank you Jennifer for allowing me to share a little of Ethan’s story. Ethan is almost 13 now – such a handsome (almost) teenager!

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the future is bright(er)

A few times a year I have the opportunity to spend a couple of days in a room full of people who know what the letters ALD stand for and what it means to live with them in your home. This week I attended the Aidan Jack Seeger Foundation – ALD Standards of Care meeting. It was exciting to hear about the continued progress being made with newborn screening and the latest treatment options for this next generation of ALD boys. There’s not anything that will benefit Jack, but I hope in a small way, our boy (and his story) is helping the progress move forward.

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I know it’s not for everyone to sign up for juggling their real-life responsibilities to attend conferences highlighting the worst part of their life, but I never regret attending these meetings. I’d be lying if I said I understand all the medical talk, but the connections I’ve made over the years have been invaluable. I still get a little star-struck when I meet people that I’ve been following for years, but I’m always pleasantly surprised by how welcoming everyone is. These conferences are filled with doctors, researchers, and ALD parents who have become hard-core ALD advocates (trust me – I’ve done nothing compared to these folks). Everyone is always willing to answer questions and share their experiences. And, now there’s a new generation of ALD families recently diagnosed through newborn screening – they are the strongest people I’ve ever met. I’m not sure I would have been ready to dive in 12 years ago. 12 years ago ALD was a different disease.

12 years ago, when we first heard the word Adrenoleukodystrophy, a diagnosis usually meant that your son was already symptomatic – often too far along to treat. Even when you were lucky enough to find doctors willing to move forward with treatment, the outcomes (if successful) often lead to a new life, full of challenges. And, when you looked for other families for support or guidance, our community was hard to find. It was pre-Facebook and all that Goggle could tell us was horrific statistics and old information. Today, the ALD community is strong and the future is bright(er) and I want our family to be part of the future. I’ll keep attending any ALD conference I can get to, put on my fancy name tag, and enjoy some time with our ALD family.

For more information about ALD, please check out the Aidan Jack Seeger Foundation and ALD Connect.

Love, Jess

THIS is ALD #23 — Mason

Are there any GOOD ALD stories? I guess we need to define the word GOOD.

good
/ɡo͝od/
adjective
“a good quality of life”

 

Jack (THIS is ALD #1), as a GOOD ALD story. He’s happy and can walk and see and hear and laugh. Although his life is full of challenges, we’re grateful that he’s enjoying a wonderful quality of life. If you look through the previous 22 THIS is ALD stories we’ve shared, you will find other GOOD stories, but sadly ALD is not a disease known for GOOD stories. As Newborn Screening spreads across the country (the world), GOOD stories will take over. Until then, a determined family, curious doctors and a lot of luck needs to come together for GOOD to happen. Mason had all three.

 

THIS is ALD.jpgTHIS is ALD #23 — Mason

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Mason was born on March 19, 2011- completely healthy according to doctors. When he was 4 years old, he was admitted to the hospital for the first time. He had gotten sick out of nowhere — started vomiting and could not get out bed on his own. In the hospital, all the tests they ran were negative, so after a few nights we were sent home with no answers. They said it was just a virus.

Everything went back to normal for close to a year when the same thing happened, but this time with a fever. Mason started vomiting and became weak and dehydrated and refused to get out of bed. He was admitted to the hospital for a few days and again all the tests came back negative and we were sent home being told it was just a virus. Three to six months later, it happened again and then again in December, 2017. It was the forth time he was admitted to the hospital with similar symptoms. Luckily, that time an endocrinologist was asked to come see him. The doctor reviewed Mason’s charts and immediately ordered an adrenal test. Mason was diagnosed with adrenal insufficiency and put on hydrocortisone. Before we left the hospital, the endocrinologist mentioned the word “Adrenoluekodystrophy” (ALD), but didn’t give us many details. All he said was that Mason was not showing any signs of the disease (other than the adrenal insufficiency), but to be safe, he ordered an MRI to rule it out.

The MRI was scheduled for January 25, 2018. After Mason had his MRI, I started Googling ALD, and convinced myself he did not have it because we had no family history of the diseases and he was not showing any symptoms. His appointment with the neurologist to review his MRI was on February 19, 2018 and I was calm leading up the meeting. February 19th arrived, and we got the news I thought for sure we would never hear — Mason had ALD.

I broke down and was terrified that Mason would start showing signs of the disease quickly. Our neurologist called Dr. Lund at University of Minnesota Masonic Children’s Hospital (Dr Lund is a leader in ALD treatment). Within a couple of weeks we were heading to Minnesota for our consultation for a bone marrow transplant (BMT). We were there for a week and found out Mason’s LOES Score (a determination used to rate the severity of the progression of the disease – it ranges from 0-34) was between a 3 and 4 and he was a good candidate for a BMT.

Instead of starting the process right away, they sent us home to wait for insurance to approve the treatment. That was the longest and most stressful month of our lives. Waiting on our Michigan Medicaid to approve an out-of-state BMT that was considered a “trial or experiment” (BMT, if successful, stops the progression of the disease, but is not considered a cure). For a month, a day did not go by without me crying on the phone with the insurance company or the doctors in Minnesota.

 

At the beginning of April, we finally received approval from insurance and were told that our doctors found and 8 out of 8 cord blood match. Mason had his transplant on April 26, 2018 and it went better than doctors expected. We were discharged from the hospital only 12 days post transplant.

I know Mason’s story is a miracle and I have not heard many other ALD stories as positive as ours. We are very blessed to have had the transplant in time and that Mason continues to be symptom free (with the exception of adrenal insufficiency). Michigan does not do the ALD newborn screening yet, but will soon hopefully.

-Erica

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Reading Mason’s story gave me chills. My hope is that stories like his will be the new face of our disease. An early diagnose, treatment, followed by a healthy life.

I’m by no means saying that ALD will ever be an easy diagnosis. Even with the “luck” of having that endocrinologist being wise enough to test for adrenal insufficiency and then following up with the MRI which properly diagnosed Mason, his family faced a lot of challenges. Fighting with insurance companies, financial responsibilities connected to treatment/travel/etc, the pain/discomfort/agony of a transplant — all these things will never make ALD an easy diagnosis. Still, the future looks bright(er).

And, Mason’s smile is super bright!

Thank you Erica for sharing Mason’s ALD story.

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

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