THIS is ALD #6 — Donovan

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Another ALD story to share, and this one is a little different. This is a new story for ALD –hopefully the future of our disease. It’s a story about a boy, newborn screening, and a bright future. Meet Donovan.

THIS is ALD #6 — Donovan

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My son, Donovan, was born in Connecticut in 2016. When he was 3 weeks old, his pediatrician called and said he tested positive for a “metabolic disorder” on his newborn screen and needed further testing. She was purposely vague because she didn’t want me to Google the disorder until we had confirmed answers. It didn’t do much to keep me from worrying, though. She mentioned that if it was confirmed, my 3 daughter’s would need to be tested as well. Without much information, I was scared for my son’s life, and the health of my daughters. 

The tests came back positive, Donovan had ALD. Don’s pediatrician continued to be vague, and I understand why. She wasn’t an expert on the disease, and didn’t want to give me any false information. My first question was “Is it life threatening?” All she could say was, “It can be.”

That’s when the Googling started. 

We met with a geneticist at Yale, who was the only expert in the state. The information she gave us was overwhelming, and tough to process. So many unknowns. When will it manifest? Will it ever? What type will he have? How severe will it be? There was no way to tell. My husband and I spent several nights cradling and weeping over our newborn son. So small and perfect. How could he have this monster inside of him?

After the diagnosis, I joined the ALD support group on Facebook and met some amazing and wonderful people. I was connected with lovely families here in CT, some who were also diagnosed through newborn screening! 

At 3 months, they tested Donovan’s blood to get an understanding of his adrenal function. At 6 months, he had his first MRI. I was terrified. I knew there wouldn’t be anything to see in his scans at this age, but they had to put him under so that he would be still, and that worried me a lot. He came through it like a champ, though. It didn’t seem to bother him at all! 

Donovan is unique. First of all, he did not inherit the gene from me. I am not a carrier, and no one in my family, or my other children, are at risk. Donovan’s gene spontaneously mutated while in the womb. This only happens in 5%-7% of ALD babies. Secondly, he is, what his geneticist called, a “mosaic.” This means some of his cells are mutated, but some are not. She seemed baffled by it. She didn’t know how or why it happened that way, or how that might affect his condition. If at all. More unknowns. So they treat him like any other ALD patient, and I am grateful.
 
Don is now over a year old. He will have yearly MRIs until he is 3, and the every 6 months. He will also have his adrenal levels tested every 6 months. So far, all his tests have been normal.

ALD has opened a whole new world to us. I’ve met people I never would have otherwise known. Strong, beautiful, inspiring families. Some of their stories are terribly tragic. My husband asks me why I read those stories if it makes me so sad, and I tell him, “Because they put their pain out there. I just want them to know someone is listening, and someone cares.”

I am not a perfectly patient person, not at all! But I do think I live a bit differently, now. I take more pictures and videos, I give more hugs and kisses, I say more “I love yous.”

Donovan is my 4th child, but my only son. His older sisters adore him! He is cuddly and happy. He is curious and likes to get his hands on everything! He has even started climbing, now! His sister, Josephine, is only one year older than him and they are best friends. They do everything together and always want to be with one anther. My older 2, Mika and Ripley, help change diapers, teach, and play with him. 

None of our children know much about his ALD. My 9 year old has heard us use the term and noticed his many doctor appointments, and she just understands that he has something inside him that could one day make him very sick. So we have to keep an eye on him. We have settled into our “normal.” Life has gone on, and I couldn’t be more grateful for that! For the chance for life to go on.

-Diana

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Diana and I met through the ALD Support group she mentioned and when she agreed to share Donovan’s story I was thrilled. It’s so important that people realize the advantages of newborn screening and an early diagnosis. Although the news must have been a huge slap to their family they are allowed to prepare and monitor.

The hope is that beautiful little Donovan will go on to have a perfectly normal life and ALD will stay dormant forever, but just in case, his family has a plan in place. It’s thrilling.

Diana told me that she wasn’t a writer, but I beg to argue. Her voice shines as a mother who loves her children and will do anything she needs to do to give them the best life possible. Thank you for sharing your story, Diana, and for helping people better understand our not-so-rare disease and the importance of newborn screening.

Love, Jess

 

 

 

 

hApPy bIrThDaY smiles and duct tape!

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HaPpY BiRtHdAy Smiles and Duct Tape!!

When the book was released last year, I had my fingers and toes crossed that it would find its way into the world, but in my wildest dreams, I never imagined that it would find its way into so many of the right hands.

Smiles and Duct Tape is not winning awards or getting nominated for prizes, but this is better – it’s helping people. ALD parents, special needs families, and people looking to better understand special needs and/or our little, not-as-rare-as-you-might-think disease, Adrenoleukodystrophy.

A highlight of this first year was our family being invited to meet the folks at bluebird bio earlier this week. Last month, the New England Journal of Medicine released a study that indicates that gene therapy is a promising option for boys with ALD. bluebird bio is behind that research.

Thanks to Smiles and Duct Tape, and my need to share every detail of our lives, bluebird bio found us and asked us to come up to Cambridge and talk to their team.

I liked bluebird bio from the start because they have the same relationship with capital letters as I do (my oh-so-cool not capitalizing my post titles), but when I did a little research, I really fell in love: “we are committed to our vision of transforming lives and making hope a reality for patients . . . ” AND one of the diseases that they’re determined to beat is ALD.

They are not just leading studies on new treatments, they are working to truly understand what the current treatments look like – that’s where we came in. We are the face of what ALD looks like with the current standard of care—a stem cell transplant— and without the luxury of an early diagnose. They wanted to hear more about our story and had dozens of questions for all of us (Anna answered questions with such confidence and grace AND Jack won a lot of hearts with his smile). They asked all about the transplant and details about what life looks like post-transplant. The goal of bluebird bio is to provide a treatment with fewer risks and a better after-treatment quality of life.

With all the crap going on these days, it’s hard not to lose a little faith in our world, but spending the day at bluebird bio felt like stepping into the future – a better future. Brilliant minds who are determined to make a difference. AND they invited us into their nest with open arms. We spoke, we ate, and we got an incredible tour of their facilities. These folks are warm and friendly and wicked smaaaht.

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With increased pressure to add newborn screening for ALD across the US and this promising research on gene therapy, the future looks bright for the next generation of ALD boys. If us Torreys can help even a tiny bit, sign us up!

Tomorrow I am off to the Southeast Wisconsin Festival of Books. Yet another exciting opportunity to share our story. I’ll share stories and pictures next week.

Love, Jess

https://www.thedailybeast.com/can-two-brothers-struck-with-lorenzos-oil-disease-be-saved?source=TDB&via=FB_Page

 

 

 

newborn screening (can’t think of a clever title)

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This image was taken two years before we heard the word Adrenoleukodystophy.

Last week I had the pleasure of attending an ALD meeting. It was one of the most incredible days of my life. I’ve never been in a room full of people who understand our disease before. They all had stories. Many were parents who had lost their boys. Some, like me, have a son who has suffered and is living a complicated life (some lived through both). And, there were two young men who had been treated early – both in their twenties now and both doing well – exceptionally well. They sat across from me and I couldn’t stop watching them and smiling – they’re the future of our disease.

I hate ALD. I hate what it’s done to Jack. I hate what it’s done to our family. I hate that I open my Facebook feed some days and read about another boy suffering from this disease or losing his battle after fighting for years (or months). It’s brutal.

The only possibility of getting good outcome with ALD is an early diagnosis. Until recently, the only way to know that you carried the ALD mutation without displaying symptoms, was if you were “lucky” enough to have a family member diagnosed with the dreaded disease. In the case of the two young men I met last week, each had an older brother with ALD. Each of these young men had watched as their older brothers tackled the disease without any treatment. Both of their brothers died – their greatest legacy was saving their sibling.

I can’t really imagine what these families went through — caring for and then mourning one son as they moved forward with treating another. And these were early days. They were pioneers in the treatment that is now standard for ALD boys – stem cell transplant (and if you’ve been keeping up with the news about gene therapy, THAT might be changing). Because of their brothers, they were each diagnosed early and monitored yearly. As soon as there was one hint of the disease becoming active, they were treated. Transplants were a new way of treating the disease and their parents moved forward, taking advantage of the only hope possible.

Ten years ago we received Jack’s diagnosis. We had never heard the word Adrenoleukodystrophy before that day. We didn’t have the luxury of knowing and watching and preparing. We wasted time with misdiagnosis after misdiagnosis. We watched Jack lose abilities quickly, without knowing what was happening. Finally, just before Jack’s ninth birthday we were given the news and he had his transplant the following month. The transplant worked and it stopped the disease, but Jack’s life is forever tainted by ALD.

I’ve found it difficult being part of our community where Jack – with such a complicated life – is a “good outcome”. Most of the people I’ve come to know with ALD have suffered more, lost more, many have died.

Meeting Mitch and Jon – they said I could use their names – was incredible. Of corse there was a little voice inside me wishing that our family had had some warning. If we had known that the mutation was lurking in Jack’s DNA, we would have watched him through blood work and MRIs and he would have had a transplant a year or two earlier. It’s more than likely that he would be living a very typical life today had we known. He’d probably be in college now. Maybe he would have joined me last week and he would have hung out with Mitch and Jon sharing stories and laughs (FYI – all ALD boys seem to share an awesome sense of humor).

Why am I sharing this? Because there’s no reason for a late diagnosis. It’s possible today to test newborns by including ALD in the newborn screening that is already in place checking for other serious conditions. Several states have passed newborn screening for ALD and many are on their way. I encourage all of you to do your part to make this happen.

I’ve known that newborn screening for ALD had potential for saving lives and avoiding suffering, but meeting Mitch and Jon confirmed the success of early diagnosis and gave me hope that the future is bright for our ugly, wicked, crappy disease.

Love, Jess

 

Not sure if this is really an important issue? Check this out.
Want to make a difference? Sign this.

 

Here are some reasons to vote . . .

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Aidan Jack Seeger

I have a favor to ask of all of you who read this blog. VOTE YES!!

Aidan’s Law will require ALD screening in all fifty states. Many of you won’t need persuading to stop what you are doing and sign this petition, but some of you may pause and wonder if, in a world full of issues, we should be focusing too much attention and money on a rare disease. This post is for YOU. I have five reasons you should consider signing.

1. NUMBERS

As far as rare diseases, ALD is not so rare.

The current guess is that ALD effects 1 in 17,000 people. I say “guess”, because as our country does more testing, we are finding that many people have been mis-diagnosed with other diseases. ALD is a disease that winds it’s way through families and often does a good job at hiding for a generation or two and masking itself with a variety of symptoms/timelines/etc.

2. SURVIVAL

Aidan Seeger’s story is all too common with ALD. Without the luxury of an early diagnosis, the disease is allowed to devastate the body, stealing one thing after another as a family struggles to figure out what’s happening. Once a proper diagnosis is made, the options are limited and often prove to be too late for an already worn out body.

When Jack was first diagnosed, we found a half-dozen other families who were going through the processes of stem cell transplant (still the most popular treatment option). Jack is the only one of those boys who is still alive.

3. QUALITY OF LIFE

Jack is fortunate to have been diagnosed with just enough time to receive treatment and with just enough luck and energy to survive. Unfortunately, ALD did managed to steal much of his quality of life. While he is happy and doing well, he is fully dependent. We feed him, hydrate him (through a tube in his belly), medicate him, dress him, toilet him. He needs someone to walk him from the den to the kitchen. And, Jack is doing far better than some of his ALD peers. Most of these boys are in wheel chairs and many have significant hearing and vision loss.

4. MONEY

Many people are hesitant to stand behind and pour money towards an unknown disease. It’s important to understand just how expensive it is for our society to raise boys who survive after a late diagnosis.

Jack’s education costs almost $100,000 a year. He requires (and receives) physical therapy, occupational therapy and speech therapy several times a week. He has an aide who’s job it is to work solely with him, because he is not able to maneuver through his day at his special needs school.

Jack is turning 18 in a few months. An eighteenth birthday is usually celebrated with a party and the honor of voting, being able to serve in our military and applying for college. For Jack, his birthday comes with Dan and I applying for guardianship and Jack becoming eligible for both Social Security and Medicaid.

Jack is a very sweet and VERY EXPENSIVE member of our society.

5. IN CASE YOU NEED MORE

It would have been heartbreaking to learn when Jack was just a baby that a gene was lurking in his body that would likely someday need complicated treatment. It would have been difficult to find the proper doctors to monitor his development as he went through childhood. It would have been devastating to get the news that ALD had started it’s war on Jack’s brain and that we needed to drop everything and proceed with treatment.

BUT this would have happened with enough time that right now Jack would be approaching his eighteenth birthday with a healthy body and a future full of opportunities. If only Aidan’s Law had been passed 18 years ago.

There are 402 more signatures needed on this petition. Let’s help get this wrapped up today. Thank you to the Seeger family for devoting their lives to this cause.

AIDAN’S LAW – VOTE NOW!

Love, Jess

 

Happy tears

We’ve prepared for this news for eight years. I’d worked so hard to be equipped for a different outcome, that I was not ready to hear the words, “Anna is NOT a carrier.”

I was in the middle of World Market with my cellphone pressed tightly to my ear, sobbing, asking to hear the words again.

When Jack was first diagnosed with ALD, we’d never heard of the disease. We had a difficult time understanding the way it had traveled down our family line without appearance – until Jack. An X-linked disease, carried by the mother. It effects only boys. My brothers seemed to have won a lottery, but my son was not so lucky. Nature is not fair.

Of corse the focus for our family has been to help Jack survive the disease, but a question has been asked a lot over the past eight years. Often in hushed tones with gentle hands gripping my arm, “What about Anna?”

My answer was always at the ready. Sounding confident and positive, I’d say that we didn’t know, but weren’t worried. Anna’s odds of being a carrier were 50/50. If she carried the disease the biggest concern was the gene spilling into the next generation. I’d list the variety of options Anna would have to conceive, if in fact she was a carrier. I’d go on and on about the wonders of modern science and finish with,  “By the time Anna is ready to start a family, there will probably be a simple cure for ALD.”

Here’s the truth — underneath that speech, I was terrified. ALD has stolen enough from our family and I wasn’t sure I could find the energy to fight with ALD again. While it would not be impossible for Anna to have children without the mutation, it would be complicated. Having children is complicated enough. And our family has been through enough COMPLICATED.

So for eight years I’ve been crossing my fingers, while trying to prepare for whatever news we would hear. We didn’t want to test Anna until she was ready, but as soon as she asked, we made an appointment.

Meeting with the geneticist last month was fascinating for our science girl, Anna. For her it was interesting and she approached the information like a research project. It was not as easy for me. I did my best to keep a polite smile on my face during the meeting and make the day as festive as possible. Anna has always been the most important audience for my “We are not worried” speech. I think I managed to get away with it because last night when Dan and I shared the news, her only question was, “WHY are you crying?”

We’re so thrilled with the news that I’m still weeping a day later. I hadn’t appreciated the weight of this threat until it was released. Our beautiful girl dodged a bullet. I think I’ll be crying for a while. Happy tears.

Anna’s always been a good student and this is just another test that she managed to crush!!!

Love, Jess

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Anna and I share a lot. I’m just glad that we don’t share everything.