ALD Family Weekend 2020

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It took our family a while to feel like part of the ALD community. Part of it was that the ALD community was hard to find in 2007 — Facebook was just for the cool college kids back then and, although the internet was already full of information, it was tough to sort through and finding communities  like ours was a challenge. To be honest, we were also completely overwhelmed with what we were going through.

Early on, I did find a few other parents whose sons were struggling through transplant. It was difficult because this disease (especially with a late diagnosis)  didn’t lead to many happy stories. So I hid for a long timed. Just focused on Jack and his ALD journey (oh, and raising Anna and walking our dogs and keeping house and teaching art and writing). I didn’t really become super active with the ALD community until Smiles and Duct Tape was published and Kathleen O’Sullivan-Fortin (one of my ALD heroes and board member of ALD Connect) reached out and encouraged me to be more active. Thank you Kathleen;)

I’m so impressed by the ALD newborn screening parents. Many of them have jumped right in. Speaking at conferences, talking to legislators, and bringing the ALD community even closer together. I’m inspired by them and very optimistic that their families are the beginning of the next chapter of this disease. A great chapter.

Alison and Nic Adler’s son, Lucas, was diagnosed through newborn screening in California and they wasted no time. No only is their beautiful boy is being monitored by top doctors, but they are working tirelessly to spread the word and bring our community even closer together. They have organized an ALD Family Weekend at the Painted Turtle Camp in Lake Huges, CA May 1-3.

Make sure to check out the video on the link below:

www.aldfamilyweekend.com

Our family is looking forward to this wonderful event. ALD folks – sign up today!!!!

Love, Jess

PS Our first ALD friends, the Cousineaus, are also working to make this happen. We can’t wait to see them again in person!

hApPy NeW dEcAdE!!!!

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We are prepping for a new year full of celebrations and new beginnings — a new nephew arriving, Jack’s graduation, finding and sending Jack to the best adult program on the planet (we’re getting closer) and Anna surpassing her Chilean-born mother in her ability to speak Spanish (Anna left for Salamanca on Saturday).

We’re also prepping for a new decade full of celebrations and new beginnings. There will be many. I’m sure there will be many, but I know how life works. You can’t plan life too far in advance. It’s a waste of time that just leads to the universe laughing at you. So, I will leave it at . . . 

The 20s are going to be wonderful — LET’S CELEBRATE!!!!

Wishing everyone a very happy, hApPy holiday from our home to yours. May 2020/the entire decade be filled with joy, love and peace. And, laughter . . . lots of laughter!!

Love, Jess

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He’s Ready (at least that’s what I think the photo is telling me)

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I dropped Jack off at school yesterday following an incredibly long blood draw (I counted 12 syringes – poor kid). When Jack marched into his classroom, his school mom, Monica, ran up to me to show me that Jack’s school portrait had arrived, “Look how handsome”. “Look how mature he looks”, said his teacher, Mr Dan. Handsome and mature – indeed. Then, it struck me that it was Jack’s last school portrait. He’s graduating in June.

I did what I have been doing a lot lately — I quickly left an emotional situation. My mind was spinning the whole way home. It’s his last school photo. His last year at Horizon High School. His last year with these kids, these teachers.

I walked into the house and placed the envelop of pictures on our kitchen island – facing up where Jack’s face could stare up at the ceiling.

All day I kept pausing at the photo. It had me unnerved

It didn’t make any sense why this photo got under my skin. It’s Jack. A face I see every day. I know those eyes, that smile, as well as I know my own, but something about this picture made me see my boy from another perspective. He looks like a man. Like a very typical 21-year-old man.

I kept looking at the photo as if it were trying to speak to me. But, what was it about this picture?                    

It finally occurred to me last night as I was trying to fall asleep why this photo has been haunting me. It’s that it doesn’t really look like a school portrait. Jack’s 21 – too old for a high school photo.  This is a picture of a man. It’s a picture that belongs on an employee  name tag or a fraternity composite. 

I’ve been dreading Jack’s next chapter. Not being able to imagine him leaving the safety and security of his school. Not being prepared to see him start something new – something full of adults. Something that doesn’t have “school” in it’s title.

When I looked at the picture again this morning, I realized what it had been trying to say to me yesterday. This picture is telling me that it’s time. Jack’s outgrowing his school. It’s time for him to start his life as an adult. He’s not a child anymore. He’s a man and he’s ready to make a change. 

Let’s just hope that I’m ready by June.

Love, Jess

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The Back Nine

He's a Keeper

Patient support materials you may see in the future . . . I was told to say that. I prefer the caption “Love and laughter make 50 easy”

At 9:30 last night my brother, Pablo, sent me a text, “In 2.5 hours you will officially be in the back nine. Well played, Girl.” Then I received my first Facebook birthday wish from an ALD friend who lives in Australia.

I went to bed next to my husband of nearly 25 years and woke up to the sound of the two dogs marching around our bedroom (their nails make a click, click, click at day break) and Dan muttering, “F*cking dogs”. I fell back asleep for another hour until that same mouth that had cursed at the dogs gave me a gentle kiss on my forehead, “Happy Birthday Luvo”.

I poured myself out of bed around 7:00 am to start my morning routine —  a busy hour of bathing, brushing, dressing and laundry. Jack’s sweet smile let me know that he knew that today was a special day and peeing in the toilet was his version of a perfect birthday gift. By the time we were done with the first half of our routine and made our way into the kitchen, there was a birthday message from Anna, “Gotta run take an exam, but HAPPY BIRTHDAY MOMO! I’ll call as soon as I’m done”.

The rest of the day included a long walk, a beautiful lunch with two and a half of my best friends (one was on Facetime), teaching art to kindergarteners who think I’m turning “some sort of grandma age”, and I just ordered sushi for dinner with my boys (Anna will join us on Facetime). I also have enjoyed countless phone calls, emails, texts and silly Facebook birthday wishes.

I’m not entirely sure how I imagined myself at 50 when I was young, but it definitely didn’t look like this. I’m guessing I pictured a bit more maturity and certainly wouldn’t have guessed that I would be excited by my 21-year-old’s toileting skills, but here I am and honestly, I wouldn’t trade my life.

My family – both immediate and extended, my friends, our community, our dogs (even with their annoying morning clicks), our quirky new house, — I am beyond grateful for everything and everyone in my life as I start the back nine.

Thanks for all the birthday love. 

Love, Jess

If I had the power to change certain things, of corse I would. I wish we’d never heard of ALD and that Jack’s life had taken a different path. But I can’t, so I embrace what I have and what I have is amazing.

THIS is ALD too (no more “c” word)

Just returning from this year’s ALD Connect Annual Meeting and Patient Learning Academy and trying to decide what to share. Last year, I shared that I had met some of my ALD heroes and that number grows every year. People who have devoted their lives to helping our disease through education and research – changing policies, raising money, raising awareness and working on cures for ALD.

This year my biggest take-away (other than a massive hangover — drinking 9 ounce glasses of Sauvignon Blanc after a long day of sharing and listening was probably not a great idea) was that our community is now determined to get rid of the “C” word. 

Carrier.

Twelve years ago when we were told that Jack had ALD, it was found that I was a carrier. I had the genetic mutation for ALD and had passed the disease down to my son, but I would never be affected by any symptoms. ALD is an X-linked disease and only one of my X chromosomes was affected. I had another X chromosome that would do the work for two.

Then problem with this information is that it’s not true.

The first time I walked into an ALD conference, the first thing I noticed was the amount of men and women clearly suffering from symptoms. I had been so focused on the childhood, cerebral form of ALD, I had almost forgotten that there were other phenotypes (different versions of the disease). In the case of ALD, these phenotypes include:  Cerebral ALD (the worst manifestation of the disease which Jack has), Adrenomyloneuropathy (AMN) which usually starts later in life and often presents similar to MS, adrenal insufficiency where the individual’s adrenal gland is affected, and the lucky few who are asymptomatic.

That first ALD conference I tried to avoid too many questions about the other phenotypes of ALD. I had just managed to wrap my brain around what our family had gone through. I couldn’t begin to contemplate that this disease might leave a mark on anyone else in our family. 

As the years have gone on, and I’ve become more educated about ALD, I could no longer ignore the ugly truth that ALD was not yet done affecting us. Our family is small and I believe that everyone who needs to be, has been tested (if you haven’t – call me. I will first yell and then give you the information you need to get it done). As far as I know, my mother, Jack and I are the only people with the genetic mutation. We suspect that my grandmother on my mother’s side also had the gene because of the complaints she had later in life. Balance, neuropathy, bladder issues are common symptoms for women with ALD and my grandmother had all three.  She lived a long life with these symptoms, never assuming it was anything other than getting older. While annoying, they never seemed to hold her back. My mother, now in her seventies, has been suffering with balance issues that are progressing enough that she is going to see an ALD specialist. She is done pretending that ALD is just for men/boys.

I’m so proud of my mother, but I haven’t been sure I was ready to discuss my symptoms openly. Over the last year, I have started trying on the words. When people comment on my constant runs to the bathroom or clumsy falls, I might quickly mention that ALD is to blame. I’ve gotten rid of any shoes with a heel or platforms because they make me look and feel as unsteady as walking on a tightrope. And, I’ve shared with my close friends that I’m scared of not being able to care for Jack if something happens to my ability to walk BUT then I quickly say that I’ll be fine. “My mom is clumsy, but not using a walker or a wheel chair. I’m sure I will be just like her.”

How can a disease be so cruel as to affect a child AND their caregiver?

At the conference, I was sitting with a group of women with the ALD gene and we were each sharing our story. I was the fourth person to share, when the woman across from me interrupted, “Each of you are starting with someone else’s story. Your son, your father, your brother . . . We are here to discuss you and your ALD story.” I swallowed hard, but she was right. It’s time for our community to acknowledge women with ALD. I reluctantly talked about my increasing clumsiness and awkward relationship with the bathroom. Others in the group had more complicated complaints and were braver than I was. The woman next to me started with, My name is, D$#@, and I have ALD.”

As women, symptoms range and (like all people with ALD) nobody knows where their journey will lead them, but it’s time we all band together. We need to get the proper care for those of us who are suffering and need to educated doctors and nurses and each other.

No more hiding — THIS is ALD too.

ALD – shitty disease/great people.

Love, Jess

For more information about x-linked diseases, check out Remember the Girls. Here I am with it’s founder and one of my ALD heroes, Taylor Kane.

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Rainbows and Unicorn(s)

Life isn’t always just rainbows and unicorns, but it is today. Happy Halloween everybody!

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CPNJ (now Pillar Care Continuum – new name, same great organization) does it again! Their annual Trunk or Treats got rained out, but that didn’t stop the treats or the fun.

 

I was feeling pretty proud about creating a great costume for our boy until Jack’s buddy rolled into the room. The award for GREATEST COSTUME EVER goes to Ben! Sorry JackO – you get second place;)

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Love, Jess

Calling all ALD caregivers!!

If you are an ALD caregiver for someone who has received an allogeneic hematopoietic stem cell transplant, please consider participating on this advisory board. It coincides with this year’s ALD Connect Annual Meeting.

Love, Jess

bluebird bio plans to host a caregiver advisory board on November 7th in advance of the ALD Connect meeting in Waltham, MA. bluebird is looking for 6-8 caregivers of boys with ALD who have received allogeneic hematopoietic stem cell transplant (allo-HSCT) to gain insight and better understanding into the current allo-HSCT experience and unmet need, and perspectives on education gaps and current patient services for the community in the United States.

Please note that all interested individuals will go through a screening process and not all who are interested will qualify. For those who do qualify, an honorarium will be provided in compensation for their time as well as hotel accommodations for the night of November 6 and 7. For those participants who are not already anticipating attending the ALD Connect meeting, a travel stipend may be available.

For more information contact:

 Liza Fiore (Snow Companies)

1-866-375-7249

elizabeth@mypatientstory.com

 

 

 

Just another day at HHS!

Since I’ve shared that we’re in the process of searching for the perfect adult program for Jack, people keep asking, “What’s the perfect adult program look like?”

I start by describing a safe, warm, friendly environment. I mention the need for art and music and dance. I describe that we prefer it to be filled with Jack’s peers – ideally peers that he’s known for years. I add that it needs to be lively and fun, while also being therapeutic.

I try to find all the right words, but today Jack came home with video of him working with his therapists at school. Who needs words??? Just another day at CPNJ Horizon High School. As I watched the video, I kept thinking that all me need to do is recreate Jack’s high school.

THIS is what the perfect adult program looks like!! People say it’s impossible, but we’re not gonna quit until we find it!

Love, Jess

 

OURMatch.com

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I’ve been hanging out with an old friend who is returning to the dating scene. It’s a whole different world since Dan and I went off the market. Now there are pictures and profiles and lots of time on the computer. You need to really think about how you present yourself and what you share. All while being super cautious when pouring through prospective daters profiles – things aren’t always exactly as they appear. I’ve had friends share hysterical stories about first dates that quickly revealed ridiculous exaggerations about everything from jobs to height to age to mental stability.  Times are certainly different in the world of dating, but the basics still remain — before you start looking for a partner, you should know what you are looking for AND there always needs to be some chemistry;)

We are knee deep in our “find the perfect adult program for Jack” project. As Jack and I were on our way to our latest tour, I was talking to him about what I’d read online about the program and how bright and clean the facility looked in the photos, “But who knows JackO. We won’t really know until we get there”. As I was chatting with my boy, it occurred to me that the process is similar to modern dating – we’re looking for the perfect match and starting the search online. 

Like dating, our first step has been to figure out what we’re looking for. What do you look for in a partner?

Jack and I have always been drawn to a similar type of person. Cute, smart and funny. Pluses include a love for music and adventure. Negatives include people who don’t appreciate good food, strong hugs, and a good lick once in a while AND liberal political beliefs (okay – that last one might just be me). When we sat down to think about what we’re looking for in a perfect adult program, I kept thinking about this list.

Cute translates to a clean and comfortable facility. Smart means that the program balances time in the facility with programs out in the community, Smart also includes incorporating creative activities with life skills and providing 1 to 1 support as needed. And, funny – the most important – is that the program has the energy that Jack has become accustomed to. We love Horizon High School so much, but it has set us up for a tough comparison.

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We really enjoyed the adult program we saw last week, but we didn’t have much in common and no sparks flew. So, we’re going to keep on looking for our next one and only. We’ve even been tossing out ideas for a new program to be established. It’s not going to be easy, but I keep reminding myself that, although we may need to kiss a lot of frogs along the way, we WILL fine our perfect match.

Love, Jess

the last FIRST day

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Not a traditional FIRST DAY photo, but it’s pure Jack

Today was Jack’s last FIRST DAY of school. In June he’ll be graduating CPNJ Horizon High School and starting life as an adult. An adult who is funny and sweet and handsome AND and adult with special needs. Twelve years in, and we’re finally comfortable with having a child with special needs, but still — we’re bracing ourselves as we approach this new chapter.

I know we will figure this out – that’s what we do – but as Jack got on the bus this morning, I couldn’t help but get struck with that feeling that we’re just ten months away from a new unknown. Trying to distract myself from the panic, I sat on the black iron bench that was once my grandmothers and looked at the last FIRST DAY photos of JackO. What a life this kid has led.

Not able to shake the feeling all day, I dug through our not-yet-unpacked boxes in the basement for hours until I found it. Jack’s first FIRST DAY picture — Morrow Memorial Preschool. Dan had arrived at the church’s Baker Street entrance at midnight on a cold, early spring night, wanting to be sure that Jack’s name would be at the top of the list (in fact, he was the 7th or 8th, but he made it in). It was the school that all our neighbors had promised was the best and we knew our boy deserved the best. When we walked Jack into the doors of the preschool the first day of class*, Jack was a little nervous, but he was so proud. 

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I know today as Jack walked through the doors of his beloved high school he wasn’t nervous one bit. Jack rules that school — his magical smile making up for his lack of words. I’m so proud of our boy, who’s life has changed in more ways that we could have ever imagined 18 years ago. I just want all of his first days to be wonderful.

We have ten months to figure out the best plan for our boy. We will make it happen — even if it means we need to camp out for a week to make sure his is top of the list.

Love, Jack’s mom

* Jack’s first day of school was September 11th and we will always be grateful that Dan took the later train into work that day. ALD aside, we are a very lucky family.