THISisALD.blog

I’ve now shared 13 THIS is ALD stories and I have piles more waiting to share. I will continue to post them here on Smiles and Duct Tape, but I’ve started another blog just for THIS is ALDthisisald.blog

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I‘m hoping that it will become an archive of stories for the ALD community to learn/find their people AND for doctors, teachers, therapists who want to better understand what ALD families go through AND for families who are newly diagnosed with the disease AND for us all to witness as the disease changes course. I am confident that a change coming — newborn screening, gene therapy, education — a trifecta that is sure to change the future of ALD!

I do need to brace myself a little bit when I open my email and see that there is another story waiting to be read. ALD doesn’t have many bright stories – yet. Just when I thought I knew this disease, I learn other insidious ways the disease can manifest itself and run through children, adults, families. It’s truly horrific. I do sometimes turn off the computer and wonder — Why the hell I’m doing this!?! Why not go back to just focusing on my family/our story?

Then I remember how I felt ten years ago. Our family was lost facing a disease that we didn’t know, surrounded by people – even doctors – who were as clueless as we were. I poured through the internet (a pre-Facebook world), searching for other ALD families. I found a few, but their lives where as complicated as ours and often their journeys too difficult for me to hear. Of the families I found that first year, Jack is the only survivor. That is when I walked away from ALD.

I left those letters behind and focused on getting Jack healthy and setting him up in his new world filled with special needs. I dug deep in finding the right schools and therapies and learned all the vocabulary necessary to maneuver through a world that was new to us. I also focused on Anna and Dan so that they didn’t feel like we were defined by those three letters. I also worked on myself — teaching my art classes, sharing our story (less ALD/more “special needs”), spending time with friends and family and distracting myself with some travel and more Sauvignon Blanc then is healthy (I’m not a saint folks . . . ).

Writing the book helped me regain my focus and made me realize that people didn’t just want to hear our story, they wanted to learn about ALD. That’s when I started heading back to the ALD community and found a whole different world. Sure, there are names that I’d heard ten years ago and many of the same hospitals known to work with ALD patients, but there is a new energy in the ALD community and I wanted to be part of it.

There are many people doing remarkable things for ALD. To name a few – Janice Sherwood of fightald.org, and Elisa Seeger of aidanhasaposse.org, Jean Kelley of brianshope.org and Kathleen O’Sullivan-Fortin and all the folks at aldconnect.org – these people are making incredible things happen in education, research, and newborn screening.

I thank them for everything they are doing and for encouraging me to get involved. They need as much support as they can get from our community. I’m not great at a lot of things, but I am pretty good at sharing stories.

Please check out the new blog — thisisald.blog. Share it, follow it, and share it again.

Love, Jess

 

How can you help?

If you have an ALD story, please contact me to share your story and if you want to help the cause — ALD Connect has launched an incredible program designed to help newly diagnosed families. It’s called NBS SCOUT — Supportive Community Outreach and Understanding Together. We are helping to raise money at CLICK HERE!!

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I dare you NOT to donate!!!

 

 

 

THIS is ALD #13 — Richie and Ryan

Sharing THIS is ALD stories has allowed me to learn a great deal about the different faces of our disease. Some are hard to share, but it is important that people understand the different paths that ALD can take. Wendy reached out to share the story of her two sons, Richie and Ryan. It’s shows a different side of ALD.

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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

college memories

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On Sunday Anna went to New York City to meet up with some kids that are heading to Johns Hopkins in the Fall (they found each other on social media — kids these days…). She came home feeling like she had made some good connections. It warmed my heart thinking about her one day enjoying a reunion like Dan and I had this weekend.

Dan and I have a remarkable circle of friends from college (Goucher College and Johns Hopkins University), and we all make an effort to get together as often as possible. 50th birthday parties are the newest excuse to pretend that we’re still young and cool.

This weekend was another one of those parties and it was incredible. People came from all over the country to celebrate our dear friend Fuzzy (his parents insist his name is really Jeff, but I don’t believe them). It ended up being two days of constant festivities filled with live music, fattening food, wine, laughs and old friends from back in the day – before mortgages and diapers and other grown-up responsibilities.

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On Saturday afternoon, Jack joined us around the fire pit. We were all exchanging stories and drinking more wine than 50 year-olds should (FYI – I’m 48, but who’s counting). I looked over at Jack as he sat listening to all the inappropriate stories with a smile on his face. He loves being around the energy of these events. I felt so lucky to share Jack with our friends and to share our friends with our boy.

But, today I keep thinking about him sitting there.

I keep thinking about how middle-aged Anna will sit around a fire pit with old friends laughing about college shenanigans (and fascinating lectures – right, Anna?). Then, I think about Jack.

Jack’s life is wonderful and—trust me—he has plenty of friends. I walk into Horizon High School on any given day to find my son surrounded by people. It’s as if he is holding court, telling jokes — not bad for a boy who hasn’t spoken in ten years. His life is filled with people who love him and will be in his life forever, but it’s different. He won’t ever have a circle of friends from college who knew him when he was just starting his adult life. That’s where Jack should be now, but ALD stole college from him along with his speech. I wish so badly that he could be busy making his own ridiculous college memories, not sitting with his folks and their old friends talking about theirs.

I know it’s not terrible – just different. Sometimes different just hits me wrong and this is what I do. I share. Sharing helps me make sense of things so I can let them go.

I know I am still a little exhausted from a VERY long weekend and I’m already starting to freak out about Anna leaving the nest, but sometimes I really hate ALD. Tomorrow is a new day and I’ll be fine. Jack will give me one of his magic hugs and I’ll go back to just reliving the fun memories of the weekend and counting Weight Watchers points.

Love, Jess

 

 

THIS is ALD #11 — Marty

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

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

THIS is ALD #11 — Marty

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

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

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

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

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

— Marty

 

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Marty, Elisa Seeger and Janis Sherwood

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

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

Love, Jess

 

 

 

 

 

 

 

 

two interesting/overwhelming/magical/intense days

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Last week I went to the Aidan Jack Seegar Foundation conference covering ALD Newborn Screening and Identifying ALD Standards of Care. I sat up straight and took copious notes for two days, but I’m having trouble making sense of the legal pad filled with my chicken scratch. Honestly, its ten years into our ALD journey and I still don’t fully understand all the ins and outs of our disease. What I do understand is that I enjoyed every second of being at the conference. Two days full of people who are fighting our disease — doctors, researchers, and parents — many of whom I’ve never met in person, but I’ve followed for years.

Since Smiles and Duct Tape was published, I’ve had the confidence to participate more in the ALD community. I’d always felt that I wasn’t doing anything important enough to justify attending these events. I thought I needed a medical degree or to have started a foundation or raised enough money to pay for new trials. It seems silly now – who is more connected to the disease then the families living with it in their home? And, having ALD families at these conferences is a reminder to all those doctors and researchers in the room WHY they are doing what they are doing.

Attending these events has also made me feel oddly powerful. Like I am taking some control away from the three letters that have defined our family for ten years. I’m now connected with people making change and hope to do my part to help the cause. I have a pile of people who I can contact right away if I have questions or concerns, meaning I no longer need to rely on Google being my primary source for information – this is a good rule for most things 😉

I am also grateful for all the ALD families I’ve gotten to meet in person thanks to attending these events. Our family is blessed with a huge circle of friends and family who are always there for us, but when I’m sharing a table with ALD people, it’s different. They understand in a way that non-ALD folks can’t.

We are connected as soon as we reach across the table and shake each others hand (in fact, it’s usually a sloppy, over-familiar hug because we are so excited to meet in person). We each have a story about when we first learned the word Adrenoleukodystrophy. We each have experienced needing to share information with extended family who is sometimes not completely willing to except the information. We have each wondered what will happen to our sons as the years march on. We’ve each poured through our family history looking for markers of the disease. We each find ourselves looking in the mirror and wondering what the disease will do to our own bodies. We all know what it’s like to get lost in the what-ifs. We all know how to fight our way out of the ALD hole in honor of our sons . . . or in memory of them.*

It was an intense two days, but it wasn’t all crying and feeling sorry for ourselves. There were some tears, but mostly it was two days of learning about the progress being made in diagnosing and treating ALD. Two days of learning things that may help people with ALD and of empowering each other to move forward and help the cause. I feel stronger than I’ve felt since Jack was diagnosed. Sharing Smiles and Duct Tape, THIS is ALD stories and going to these conferences — I’m educating myself, educating others, taking some power back, and making amazing friends along the way.

I am going to post more information about what I learned at the conference as soon as I can sort out my notes. Anna joined me on Friday and she can help me make sense of things  – thank goodness we have a science person in the family!!!

Promise – there is some signing and giving and maybe even marching to be done!

Love, Jess

*I focus on childhood/cerebral ALD, but ALD comes in a variety of phenotypes – Asymptomatic, Addison’s Disease, AMN. Look for upcoming THIS is ALD stories to learn more.

 

 

THIS is ALD #10 – The Waterman Boys

I am heading to Brooklyn for a conference tomorrow  — ALD: Identifying Standards of Care. Looking through the agenda, I couldn’t help but get excited about once again meeting some of my heroes. Doctors, researchers, and parents who are actively making a difference in the future of ALD. For me, it’s like going to the Oscars, minus the gowns and red carpet.

Pouring through the list of speakers, I noticed a name that looked familiar. Then, I looked again at my computer. On my screen, right beside the agenda, was my next THIS is ALD story — The Waterman Boys.

Kelly Waterman is speaking tomorrow and she had just shared her family’s story with me. It’s an incredible story full of luck and love and the power of change.

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THIS is ALD #10 — The Waterman Boys

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My husband and I live in New Jersey but we both have both worked at an oncology hospital in Manhattan for many years.  I have done most of my own doctoring in New York City and I suppose for something as big as having a baby I just felt more comfortable having my children in NY.  

We were so excited when we got pregnant with our second son and that my pregnancy went so smoothly.  Our first son Jalen had been born two months prematurely four years ago and though he’s turned out wonderfully-the experience of having a preemie and the NICU was hard to forget.  Kylar was born ten months ago full term via c-section, was a beautiful baby boy and did so well we even went home one day early!

We had been home a week, had just settled in when we received a phone call from the pediatrician at 430pm on that Friday afternoon telling us that Kylar’s newborn screen had come back for something called ALD and that we needed to go get confirmation testing done to just make sure.  Our pediatrician wasn’t too sure even about the details of what we were discussing.  I quickly called genetics at Columbia and got us in for that coming Monday morning.

During that brutal weekend that felt like an eternity of googling and many many tears, I had been talking with my cousin who was a pediatrician herself in Massachusetts about what we had been told.  She then ended up discussing our situation with one of her nurse co-workers that Saturday who happened to have previously worked in clinic with Dr. Florian Eichler- an expert in the field for ALD.  She offered to put me in contact with him.  It ended up being such an amazing coincidence.

Dr. Eichler so generously spoke to me (remember this was a Saturday and I was a stranger who was half talking half crying the whole conversation) and discussed that we would need confirmation testing but that the test was good so to brace myself that my son did in fact have ALD.  He also discussed that if confirmed my then four-year-old son would need to be tested as well.

That Monday I decided that I was going to bring my four-year-old with us to that genetics appointment.  I knew that I was never going to survive waiting weeks to find out if not only the baby had this but him as well.  Thankfully they agreed to draw my older son’s blood also.

One week later it was confirmed that both Kylar and Jalen had ALD.  We were devastated.  I was already so upset that our sweet new baby likely had this but that not only had Jalen survived the preemie experience but now this.  I was grateful for the fact that I already had Dr. Eichler as a contact and we rushed Jalen to Boston where thankfully his MRI of his brain was normal.  

We also found out that Jalen my older son has Addison’s (the adrenal insufficiency that commonly occurs with ALD) and requires daily steroids as well as stress dosing and at four months that our sweet baby Kylar also already has impaired adrenal function however not to the extent of his brother yet.  

So as crazy as all this has been finding out when you have a brand new baby that both your children have a rare life threatening disease-it’s not been lost on us just how lucky we are that all the pieces to this puzzle have lined up just right to save our boys.  If we hadn’t had a second child or in NY we never would have known about either boy and certainly would have been much worse off.  ALD being on newborn screen in NY state wasn’t initiated until one year after Jalen was born so he had just missed or if they were born in our own state we reside in of NJ we wouldn’t have known either.  We also are so lucky that Jalen never went into an adrenal crisis as that can be life threatening as well.  

We try our best to live our lives full of love for our boys and ensure their happiness.  As a mom it’s hard not to always worry but we try to keep our focus on the positives and how if this had to happen just how lucky we are.

— Kelly

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Hope and knowledge should not be provided on a state by state basis. I’m thrilled for the Waterman family that they delivered their children in NY and have the knowledge they need to provide the best opportunities for their boys, BUT what about the boys born in another state?

If the Waterman boys had been born in NJ (which is not yet testing for ALD – hopefully by the end of 2018), the first time the Watermans would have heard the word Adrenoleukodystrophy would have been in the middle of a crisis – perhaps too late to do anything to help their beautiful boys.

More proof that Newborn Screening for ALD needs to happen everywhere! Wonder where the US is in the process of adding ALD to Newborn Screening?

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Thank you Kelly for sharing your family’s story and I look forward to meeting you tomorrow!!

Love, Jess

 

 

THIS is ALD #9 — Blake

Last fall I went to an ALD symposium with several other families effected by our disease. Among the group was a couple, John and Kathy. I learned quickly that they had recently lost their son, Blake. I was shocked that just four months after losing their son, they had driven from their home in Tennessee to Atlanta to share their story. After spending two days with them, my shock turned to admiration for these strong, loving parents determined not to let their son die in vain. I reached out to Kathy as soon as I started the THIS is ALD project, hoping she’d be willing to share their story. She agreed instantly. The piece is upsetting, but beautifully written — as is Blake’s smile.

 

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THIS is ALD #9 — Blake

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Our son Blake, like many other ALD boys, made all of his milestones as a baby and was a typical boy who enjoyed living his life to the fullest. He played soccer until 5th grade and performed well in school. In middle school, he ran cross country, enjoyed riding his mountain bike, sang in a special chorus group called Encore, and was an honor student. He was elated to be invited into the Duke Tipster program and was asked to take the ACT in 7th grade. He loved school, especially history, reading, and politics. In the first grade, he could not understand why he had to wait until he was 18 to vote!  Blake, like other ALD boys, had a great and wicked sense of humor.  I sometimes wonder if God blesses our ALD boys with such a great sense of humor because he knows they will need it to endure the monster we call Adrenoleukodystrophy.

On a normal Friday morning in January, Blake awoke with a virus.  That afternoon, his temperature went from normal to 107 in a matter of minutes.  We rushed him to the ER at Children’s Hospital where they attributed the virus to Addison’s Disease and adrenal malfunction, a precursor to an ALD diagnosis.  Blake was sent for a CAT scan and evaluated by the neurologist on call who admitted Blake on her suspicion of ALD.  We thought she was crazy!  After all, we had a normal, happy, healthy, 14 year-old son.  Before he could be released on Sunday, he suffered a grand mal seizure.  Within twelve hours, an emergency MRI confirmed the Adrenoleukodystrophy diagnosis.

One week later, we were on our way to Amplatz Children’s Hospital at the University of Minnesota to see if Blake would qualify for a bone marrow transplant. Blake’s Loes score, to the shock of the doctors in Minneapolis, was a 13.5. They decided that he would qualify because he was such a “high functioning” ALD boy. They could not believe he was in Honors classes much less making As and Bs! Blake had his first stem cell transplant on March 21st, 2012. He did not engraft. We were heartbroken and terrified for our son.  The medical team decided that since he was doing so well that they could try another BMT. He was only the 5th of 45 boys who did not engraft to undergo a second BMT. This time, on June 13th, they used actual bone marrow from a donor in Germany, and he engrafted at 100%! We were over the moon! We had saved our son! He had beaten the odds! Little did we know, this would not be the case.

We came home on September 28, 2012. Blake was legally blind by December. He went back to school the following August to start his sophomore year after being homebound his entire freshman year. He had an aide that took him to each of his classes. While Blake struggled with processing and math, his school modified for him in those areas. He continued to score high on state exams and performed well in his classes. He graduated in May 2016 with dreams of going to college. He wanted to be a neuropsychologist and move back to Minneapolis to work with children, especially ALD boys, going through bone marrow transplants. Through his 4 years of high school, we kept those dreams alive for him! By October of 2015, Blake was wheelchair bound. In February of 2016, Blake had a seizure that would take his speech and ability to swallow. He had begun to have problems with both a few months prior. He was in the hospital from February 27 until March 11, unconscious for most of it.  At that point, Blake needed a g-tube. Blake would finish his senior year at home in a hospital bed, but he was able to graduate with his class which was so important to him! Despite all of this, we enrolled him in Philosophy at one of our local community colleges. We were bound and determined to keep his dreams alive! He attended class three days a week, unable to speak or swallow, wheelchair bound, and completely blind. Blake would never, ever, give up!

On the Tuesday before Thanksgiving 2016, Blake had an hour-long seizure on his left side.  After, (he continued to have small seizures occasionally from June 2013 until this one), he was permanently bedridden. The doctors in Knoxville and in Minnesota felt that Blake’s ALD was progressing too deeply in his brain to detect, for his MRIs showed very little or no change from time of transplant until March 2016. The doctors did not understand his continued decline as other ALD boys with far worse MRIs were still walking, talking, seeing, and speaking.

Our beautiful son earned his wings at home on June 1, 2017 at age 19. He is now free of the body that so utterly failed him. He can dance, sing, laugh, walk, and see again! Blake Edward Switow is our son, warrior, hero, and our Guardian Angel!

Always remember, laughter is good for the soul!

— Kathy

I’ve read over this piece a half dozen times, trying to figure out what to write as a follow-up. I’m having trouble finding the words through my tears. I connected right away with Kathy. She felt more like an old friend than an acquaintance at a conference. It’s heartbreaking to learn the details of their family’s journey with this disease. And, ALD didn’t just take their son, ALD was particularly wicked with their family.

Thank you Kathy for sharing your story. It’s important for people to understand that ALD doesn’t always start progressing at the same age and it doesn’t always follow the same path. I’m grateful for your honesty — you have a huge fan in NJ. If fact, after people read this, I’m guessing you have many!

Love, Jess

THIS is ALD #7 — Nicholas

 

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THIS is ALD is gaining some traction. Not just in the ALD world, but I’ve heard from many non-ALD folks that they are appreciating learning more about the disease. ALD can look very different person to person. Here’s a story about a boy named Nicholas. Another success story thanks to an early diagnosis.

THIS is ALD #7 — Nicholas

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Our 13-year-old son Nicholas is a thriving survivor of cerebral ALD. His story so far is one of the rare success stories of this devastating disease thanks to family history (which gave us the knowledge needed in order for him to be diagnosed at birth), the Lorenzo’s Oil study, early detection through brain MRI, and a bone marrow transplant (BMT).

My father died from complications of AMN (Adrenomyeloneuropathy is the adult onset version of ALD. It generally develops during the late twenties or early thirties and progresses more slowly) and I found out I was a carrier at age 15. We contacted Kennedy Kreiger Institute at Johns Hopkins (where my father’s neurologist Dr. Hugo Moser had been) to prepare for testing once I became pregnant many years later. My husband and I were devastated to get the results that our perfect little baby boy had ALD, he was only a week or so old when we received the news. It was one of the worst days of our lives. We enrolled him in the Lorenzo’s Oil study at 18-months-old (Lorenzo’s Oil is a combination of oils that is thought to limit the accumulation of very long chain fatty acids that build up in the brain in ALD patients. It can slow down the onset of the disease). He was raised on the strict low fat diet and daily intake of the oil in the hopes it would keep demyelination at bay. Nicholas also had yearly brain MRI’s and we made yearly trips to Baltimore for testing and follow ups with the specialists. Dr. Gerald Raymond kept a watchful eye on him for nearly ten years.

The Lorenzo’s Oil study ended when Nicholas was ten, and we were told that hopefully he had escaped the most devastating form of the disease. Within a year of stopping the oil, Dr. Raymond spotted a small lesion in Nicholas’s brain caused by ALD and our lives began to spiral. We knew this could be the beginning of the end and our only option would be a BMT. Nicholas was a perfect candidate for gene therapy with a Loes score of 1 (the 34-point scoring system used to describe the evolvement of ALD) and no other symptoms. So we waited and Nicholas underwent MRI’s every few months to monitor the lesion…we had time on our side due to very early detection and slow progression, but we felt like it was a ticking time bomb and it was the worst several months of our lives full of worry and the unknown. Life came to a halt in our minds and hearts, yet we had to carry on for our children’s sake. We were referred after six months to Dr. Wes Miller at the Univ. Of Minnesota Children’s Masonic Hospital for consultation.

Nicholas was now eleven and needed to know exactly what was going on. It was a horrible visit full of heart-wrenching details of what a bone marrow transplant involved and what we were facing if the gene therapy study wouldn’t reopen. Within a few months, we were told the study wasn’t reopening at that time, and our only option was a BMT. The time was now as Nicholas was still extremely healthy and strong and no outward signs of ALD. Despite the challenge of living away from home for four months and the harrowing medical treatment of completely wiping out our son’s immune system and replacing it with another, we now believe it was the best decision and that the Lorenzo’s Oil diet quite possibly helped delay any ALD progression until late in the critical childhood years. We had the challenge of no blood siblings (we have a beautiful adopted daughter), but were gifted with a perfect umbilical cord blood donor match that saved our son’s life. We couldn’t be more grateful for the ALD specialists and BMT team of doctors who did all they could to save our son’s life and halt his disease in its tracks (halted disease progression was already shown on the 30 day post BMT MRI).

Nicholas is one year out from transplant and healthy (with adrenal insufficiency) and active in athletics. We know he is a miracle kid and this is not the usual case by any means. Newborn screening must be passed in all states so that every ALD boy has a fighting chance. We also know and have seen the many risks of BMT, as we lost an ALD friend in MN to one of the many risks of transplant and have heard of so many others. Nicholas is a best case scenario, we are forever grateful for where he is now. We want to do all we can for other boys like him.

Julie

(I added a few details for readers unfamiliar with ALD — Jess)

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It’s thrilling to read how well Nicholas is doing one year post transplant. Again, his family had the luxury (THIS SHOULD NOT BE A LUXURY) of knowing that he carried the ALD mutation. This knowledge allowed them to prepare and act — initially with Lorenzio’s Oil then with a BMT.

Since transplant, Nicholas has been busy running 5ks and has even finished his first triathlon. His family has also been actively raising money and awareness for ALD hosting a Run for ALD event this last November.

Thank you Julie for sharing Nicholas’s story.

 

Love, Jess

happy new year!?!!!

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There is nothing like waking up New Year’s Day with a head full of fun, foggy memories, and feeling grateful for everything in your life – your family and friends being on the top of that list.

It was nearly 11:00 am before us Torreys were all up and ready(ish) to face the day. We had just a few goals for the first day of the year and we could do all of them in our pajamas – perfection. We needed to clean up the house from our New Year’s Eve festivities, take down the Christmas tree, and eat all the calories in our kitchen before New Year’s Resolution #1 could begin.

Everything was going according to plan until we heard Anna yell, “Mom, there’s water pouring out of the ceiling!”

Happy New Year!!?!

We’ve been through this before. Our second floor washing machine pipes are a little too close to the outside wall, and seem to enjoy finding the least opportune time to freeze and burst. We thought we had resolved the issue two years ago. We hadn’t.

I know our family has the reputation of being optimistic and flexible and calm and easy-going, but trust me, when there is water dripping from our ceiling, we are none of those things. “Fu#k” was the word of choice as we all ran around the house – water shut off, towels thrown all over the floor, large pots trying to catch the stream. Our plumber almost laughed when we called him, “Pipes are bursting all over town. No way I can see you any time soon.”

We called another plumber . . . and another. “Maybe by the end of the week.” was the best answer we got.

Fu#k!!!!

I was convinced that 2018 was going to unravel. That somehow what happened in the first day of the year would determine how the year would play out. Our house was going to fall apart, we would need to spend Anna’s college fund to pay for repairs, and we would never have access to clean clothes again.

It took a few hours, a lot of swearing and a good look at what we were dealing with before we calmed down. It wasn’t so bad. We had shut the water off before any real damage was done. The plumber will come by the end of the week and fix the issue and we have an old washing machine in the basement so we don’t need to be smelly.

By mid-afternoon New Year’s Day, our house was clean, the Christmas decorations were neatly stored in the basement and we were sitting in front of Netflix eating ridiculous amounts of lasagna, cookies, and peppermint bark (I hate whoever brought that into our house).

2018 wasn’t ruined.

I stopped believing in karma, destiny and fate years ago. How could I believe in such things? I’ve seen too much pain and suffering throw around great people to credit anything but chance.

Our pipe burst because it’s been super cold — bad luck. We were able to get the water shut off before the ceiling caved in — good luck! We had an awesome New Year’s Eve with a pile of festive friends — good luck! Jack and Anna are both healthy and doing great as we start the new year — good luck! One of our so-called friends brought not one, but two boxes of peppermint bark — bad luck.

It’s a new year. 365 days and some will be great, some crappy. My newest resolution is that I will take each day as it comes. I can’t promise there will be no cursing, but I think I can do this!

Wishing everyone a decent 2018 with more good days than bad!!!

Love, Jess

P.S. Peppermint Bark = 13 points on Weight Watchers;(