a conference, the flu, a fall and a shower

Being surrounded by our ALD community is aways a thrill for me and being asked to stand up in front of many of them at The Aidan Jack Seeger Foundation — Standards of Care annual meeting was an honor. Talking about ALD, Jack and medical marijuana did have me nervous, but it was received well.

The conference takes place every year in Brooklyn and is run by one of my ALD heroes and the founder of The Aidan Jack Seeger Foundation – Elisa Seeger. Her beautiful son, Aidan, lost his battle with ALD and ever since she has fought to change the face of the disease. Her crusade to add ALD to the newborn screening panel has led to 14 states testing for the disease — 54% of births in this country (and that number is going up every year). She has also helped develop a wonderful guide for the parents who have just received the diagnosis. And, I don’t know anyone in the ALD community who doesn’t know Elisa and describe her as not just a driving force, but the sweetest, most generous human on the planet. 

The foundation fills the annual meeting with top doctors in the field, doctors trying to better educate themselves on ALD, biotech companies working on treatments, and patients and parents. I’ve attended for three years and am always impressed by the assortment of speakers representing all the sides of our disease.

When Elisa asked me to speak, I jumped at the opportunity, but sharing Jack’s cannabis story with this group did have me feeling a little uncomfortable. Cannabis is still largely unregulated and under-researched. I’m not a doctor or a medical professional and I didn’t want anyone to walk away thinking that cannabis was now part of some sort of standard of care for people with ALD. I kept reminding everyone that I was just a mom who loves her son and is trying to provide him the best quality of life possible. 

I went on to say that I’ve not seen a single negative side-effect since introducing medical marijuana into Jack’s regimen four years ago. It’s not effected his other medications or made him unable to complete his normal daily schedule. I credit cannabis for improvement in Jack’s walking, sleeping, eating and focus. It may not help anyone else with the disease, but it’s worked for us. A reminder that sometimes thinking “out of the box” is a good move for those of us facing rare/complicated/crazy issues. I’m sure that my words weren’t quite so clear as I stood in front of the crowd, but this is what I planned to say and I think I got my point across.

Since I spoke, two people have reached out to me and wanted more information about our experience. Family’s with boys, like Jack, dealing with complicated, often uncomfortable, lives.  I’m so happy that Elisa trusted me enough to share our story and I promise I will be responsible — anyone who reaches out to me will get the same disclosure, “I am not a doctor or medical professional. I’m just a mom trying to provide the best quality of life for my son.”

It was a great conference, but as soon as I walked in our front door Friday, I was reminded that life goes on and it isn’t always just about ALD.

Proof that life with ALD is not always just about ALD — The Flu:

Our family had planned to attend the second half of the Aidan Jack Seeger Foundation events — a family retreat. Unfortunately, we weren’t able to join the fun. I found out Friday that Jack’s school has had a flu outbreak. Between Jack’s less-then-perfect reaction to the prophylactic Tamiflu we decided to give him and worrying about getting other kids sick – we didn’t go the the family retreat. We were all bummed to miss meeting some of Jack’s ALD brothers, but the good news is that Jack seems to have avoided the flu for now. We are keeping our fingers crossed and please send love/prayers/good vibes to all of his classmates that are fighting the flu.

More proof that life with ALD is not always just about ALD — A Fall:

Instead of the ALD Family Retreat, we had a quiet Saturday. We stayed in our PJs until noon and waited for the snow to arrive. After lunch, snow started to fall and I decided to take the dogs for a walk. As the dogs and I were heading home, I was chatting with my friend Kim on the phone, looking forward to getting out of the cold. I crossed the street and stepped up onto the curb when suddenly I fell. I’m not entirely sure how it happened, but I was on the street, my left wrist was aching and I was awkwardly pushed against the front of a large, black SUV. Kim heard me screaming that I had fallen and couldn’t get up. She was trying to calm me down, when the car I was leaning against started.

I’ve had my share of horrific experiences, but this was defiantly in the top five. Luckily, Dan came to the rescue within a couple of minutes. I’m fine except for a sore wrist and a new fear of ice and remote car starters (once Dan got me off the ground, we realized that the car was empty and I was in no real danger).  

A little more proof that life with ALD isn’t always about ALD – A Shower: 

Sunday morning I wrapped up my achy wrist and headed into the City. My mother and I threw my sister-in-law a baby shower. It was a lovely party, but better still is that in a couple of weeks, we will have a new baby in the family!!! And, this baby will be born in NY, where ALD happens to be on the newborn screening panel thanks to the Aidan Jack Seeger Foundation.*

It’s been a long four days. I’m ready for some time in front of the fire and some good/bad TV. Hope you all are doing some of the same today!

Love, Jess

* The baby is NOT in danger of having ALD. My brother doesn’t have the mutation and, even if he did, he could not pass the gene to a son. We are just happy that NY State is doing the right thing for all of it’s babies. 💙

What is a REAL Disability?

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Jack is blessed with many friends, but he has one bestie. A guy that shows up to our house and Jack doesn’t hesitate to get up and race to greet him at the front door. Even, like today, when Jack had been sitting on the toilet. I apologize to any neighbors who happened to be looking in our windows at the time. Jack can’t help himself when Peter arrives.

But that is not today’s story.

Today’s story is about what happened when Peter and Jack left Speir Drive to head to their favorite spot — The Able Baker. Maplewood Village being a weekend destination for many local folks, the boys needed to do a few loops before finding a free parking spot. It was a handicap space nice and close to their favorite bakery. It’s not just Jack who qualifies for the “luxury” of convenient parking. Peter – Jack’s buddy and Community-Based Instructor/Mentor – also has some challenges. Peter got out of the car and then helped Jack out of the passenger-side, when a women in a minivan stopped her car and loudly ask if they would please, “empty the spot for someone with a real disability. Someone with a wheelchair or walker.”

I don’t know what exact words were exchanged, but Peter was forced to explain that he and Jack were REALLY disabled. That they both qualified to fill the spot and for safety reasons they needed to be close to their destination. I’m sure that Peter said it in a way that was polite and clear. THAT’S who Peter is.

I might not have been polite, but I would have been clear. Judging peoples limitations from the front seat of a minivan is ridiculous and ranking disabilities is crazy. I’m the first person to shame people for needlessly using parking reserved for people with disabilities, but if someone has the placard who am I to need to know WHY they have it. Maybe their disability requires them to use a wheelchair or a walker. Perhaps it’s a heart issue or a back problem OR maybe it’s that maneuvering their companion through a crowded parking lot is dangerous.

So, if you were in Maplewood today and happened to see two handsome young men, enjoying some large cupcakes before getting into a car that was parked in a handicap spot – don’t worry. They earned the spot.

Love, Jess

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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Grateful for Laundry

I’ve been grateful for so many things this last week – my heart is full. Dan threw me one hell of a birthday party last weekend and my only complaints were that I wasn’t able to get a proper visit with everyone and it ended too early (4:00 am . . .). Then, just five days later, we hosted a big Thanksgiving with all three sides of the family represented — the Torrey/Perrys, the Cappellos and the Mackays. Our house was so filled with guests all week that I never really knew how many people would be there for dinner or where everyone was sleeping. All I knew for sure was that it was amazing.

Today I’m grateful for laundry. 

Anyone else get that awful feeling lurking in the pit of their stomach when a fun time has reached it’s end (no – not a hangover, but that too)? I’ve gotten this feeling while driving home from Block Island on Labor Day and when Dan and I drag the Christmas tree to the curb in January each year. It’s part exhaustion and part relief BUT mostly it’s just knowing it was a great time and it’s over.

Our last guest left today around 1:00 and I’ve been loading and unloading the laundry and the dishwasher more times than I can count. I’ve been vacuuming and making beds and folding towels AND I am so grateful to have a distraction. 

Anna is home for one last night and we’re going to enjoy it just the four of us, around our little kitchen table. We’re ordering in, watching a movie and going to bed early. One last hoorah before the holiday is officially over.

I hope everyone had a wonderful Thanksgiving and has some laundry to do.

Love, Jess

I would like to thank everyone who made a donation to CPNJ – Pillar Care Continuum High School in honor of Jack for my birthday. We raised over $2500!!! It’s not to late if you want to help a great cause — CLICK HERE!

 

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

50

 

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Next month I’m turning 50. I’ve always loved my birthday. For me birthdays are a reminder to reflect on the previous year, an excuse to celebrate the future and … I love presents (honestly, I LOVE PRESENTS). I didn’t just revel in celebrating 10 and 17 and 21, I embraced 25 and 30 and 40, but this birthday feels a little different. It’s 50. 50 sounds so grown-up. 

Shouldn’t I be more responsible? Shouldn’t I know more? Shouldn’t I be able to complete at least the Monday New York Times crossword puzzle? Shouldn’t I have learned to switch to water after the second glass of wine?

Like many of my friends reaching this milestone, I’m finding myself thinking about what I’ve accomplished in the last 5 decades and what I see shaping up for the next half of my life (I could make it to 100).

Overall, I’m fairly pleased with my accomplishments thus far. No fortunes made or much notoriety, but I have plenty that I’m proud of. I survived school (which was tough for me) receiving a bachelor’s and even a master’s degree. I married the love of my life, and with him survived more ups and downs than most couples. I’ve had careers as a photographer, a teacher, a writer and even gotten away with being a nurse when needed. I’ve had three books published (you thought Smiles and Duct Tape was the only one? There’s also Squeeze and Jack and the Pumpkin). I’ve managed to always surround myself with incredible people, who seem to enjoy my company and hold me up when I’m falling. And, I’ve raised two remarkable children – by far, my proudest accomplishment.

Of corse there are things that I regret. I wish that I had learned more languages (at least not lost my first language – Spanish). I wish I had traveled more and not given up on my photography. I wish I invested in Amazon and Apple early on. I wish I had always treated people the way I wanted to be treated. I wish I had learned to always think before I spoke. I wish I had taken more videos of the kids growing up. I wish I had learned how to play the guitar, knit, and sail. . I wish I had pushed for an MRI for Jack, just a few months earlier . . . 

There are things I would change if I could, but for the things I’ve had power over – I’m (mostly) proud. It’s the next half of my life that has me stumped. Dan and I will not have the empty nest that many of our peers are experiencing, but things are quieting down a bit. I’ve been thinking of going back to school to start another career, but am wondering if 50 is too old to start something fresh. I’ve been working further on a few book ideas that have been torturing me from my sleep. I’ve even been thinking about starting a program for adults with special needs – if we can’t find it, we may NEED to build it. All sound ideas, but I’m waiting for that kick in the ass that has always found me when I’ve needed it.

Until then, I am going to busy myself by searching the internet for “good careers for people of a certain age” and “appropriate haircuts for 50-year-old women”. I will also continue to work on finding the perfect adult placement for our boy and maybe sign up for some guitar lessons.

Love, Jess

I will also work on remembering to switch to water after the second glass of wine. No promises.

 

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