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

 

 

 

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.

THIS is ALD #26 – Hutch

Chelette reached out to me to share her son’s story and I was so impressed with how determined she is as a mother. Many of us ALD moms have been forced to fight with doctors to find the correct diagnosis for our sons. In this family’s story, this mom wasn’t just fighting for her son, she was fighting for answers to other questions in her family’s history. Thank you Chelette for sharing Hutch’s ALD story.

 

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THIS is ALD #26 – Hutch

Our son Hutch was a perfect 9lb. baby. As a child he was kind, bright and athletic! Hutch was the kind of kid who never had to be told twice and never needed to be put in a time out or punished. So when he was nine-years-old and we started seeing changes in behavior and struggles in school, I got concerned. I started telling doctors that something was up, but everyone blamed adolescence.

Hutch had febrile seizures as a child that no one seemed concerned with.  He had a seizure when he was six (almost out of normal range for febrile seizures) so I spoke with a neurologist, but he was not concerned. Then Hutch had another seizure when he was nine, so I saw another neurologist. She actually told me he would never have another seizure and not to worry about anything. This was not believable to me. At every neurologist visit I would always share that my dad had a neurological disorder, but still no one listened to me. They all blamed adolescence. 

My father had some neurological issues that started around age 28. His gait changed and he started to drag his legs while walking. No one was ever able to give him a true diagnosis. They said he had spastic familiar paraparesis, which never felt right to me.  His skin was very dark and he was bald.  By the end of his life, he was wheelchair bound (he could walk, but it was too taxing on him). He died during an angiogram at age 51.

I became so concerned by the time Hutch was nine-years-old, that I took him to see a neuropsychologist, an audiologist, a few neurologists. No one seemed concerned. He had what seemed to be auditory processing disorder and he had attention issues but no hyperactivity so again doctors were not convinced there was anything significantly wrong. Every direction I turned, we could not find an answer. 

In November of 2015, 3 days before his 13th birthday, Hutch had a 90 minute seizure. Yep, that wasn’t a typo, he had a 90 minute seizure … I didn’t think we would see him again. Miraculously he survived and that seizure was an important piece to the puzzle. The hospital we were in didn’t have a pediatric neurologist so they consulted with a pediatric neurologist at Tulane. When we were being discharged, they told us the neurologist had ordered a metabolic evaluation. I knew at that moment we were finally going to get the answers we needed.

Two weeks later we sat in that neurologist office and he spoke those words that we were not prepared to hear. He said our son had Adrenoleukodystrophy, that he would more than likely die within 2 to 4 years, most of which would be in a minimally conscious state, unable to walk, talk, eat, etc.. (he actually used the word vegetative state but I hate that word because people are not vegetables). He said Hutch would most likely die during a seizure and there was nothing that we could do to help or stop the disease as he was too far progressed (spoiler alert, he was wrong about the last part!).

My husband was completely devastated. Oddly, I was still so grateful that Hutch had survived the seizure that finding out we had 2 to 4 more years with him still seemed like a gift. Within a week we were in a geneticist office, he asked what our plans were and we told him that we have been vetting hospitals just to find out more about the disease and what our lives would look like. He pointed us in the direction of the University of Minnesota. He told us they had treated more boys with ALD than anybody in the world. At this point we did not think Hutch was a candidate for transplant based on what the neurologist we met with had told us — thank God he was wrong. 

One thing led to another, and the first week of January 2016 we were consulting with an amazing team of doctors at University of Minnesota to see if our son would be a candidate for a bone marrow transplant. At the end of our time there, they told us that they felt like Hutch would be a candidate. They didn’t know if he’d be able to live an independent life as an adult but they felt like BMT would preserve his physical abilities. We were thrilled AND scared to death!  

Two months later, on March 16, 2016, we moved to Minneapolis for a BMT that took place on March 22.  We lived in the hospital for 40 days and then stayed in Minneapolis for the next 2 months. Hutch did exceptionally well through his transplant and we moved home at the very end on June. Then life got really difficult. 

Hutch‘s case is different than most boys with ALD — his disease started in the front of his brain and there is no damage to the back of his brain. This means he has all of his physical ability still intact, but the front of his brain is profoundly damaged, so he can often look like a traumatic brain injury patient — he is impulsive, often inappropriate, and has no filter.

Anger and rage took over his body once we got home from Minneapolis.  Our girls, who were 15 & 10, had to move out of the house for a while because he was so out of control. Thankfully, better management of his dosing schedule of hydrocortisone, some amazing vitamins and blood pressure medicine worked and little by little we got our life back. 

It took about two years following transplant for us to see a little light at the end of the tunnel, but now Hutch is in school and and loving life. He swam on his high school’s swim team and played golf for his school team also! He needs many accommodations, but he is smarter than he appears on paper. 

We are very grateful for Hutch’s diagnosis, because as hard as it is, it saved his life and it explained all of the issues he was having. With Hutch’s diagnosis we determined that my dad had AMN (adult onset version of ALD) and more than likely died during an angiogram due to undiagnosed adrenal insufficiency.

Our lives are very different than we ever imagined, but also better than we expected following transplant. Because of Hutch is a poor decision maker and struggles to self-regulate, he needs constant supervision. But, he is here and has taught us a lot about life and the dignity of life. ALD took a lot away from us but it also gave us more than we could have ever imagined. 

— Chelette

 

 

THIS is not Bravo

Why were a dozen people following us around with cameras and piles of questions for the last couple of days? We can tell just yet, but I can promise you that it will be more real than anything you’ve seen on Bravo.*

 

Love, Jess

* I love Bravo – every last bit of their version of reality – it’s just that THIS is not Bravo.