shi^ty disease/amazing people

Years ago my mother and my best friend, Enger, planned a surprise party for my birthday. It was just a keg, some balloons and a pile of friends, but it meant the world to me — I was so surprised when I walked into my dirty, second floor apartment at The Woodrow and saw all those smiling faces. It’s been a while since that day (30 years!!), but yesterday I felt that same feeling of overwhelming confusion and love.

I’m not someone who ever had a bookshelf full of awards, but now I have one, and it is proudly sitting on my mantel. 

Folks at ALD Connect asked me earlier in the week if I would help them as they gave an award to my friend Kathleen O’Sullivan-Fortin. I jumped at the chance of applauding her for all of her hard work — she’s a founding member of the the board of directors of ALD Connect and is responsible for bringing me into this community, while showing me tons of love and support. When it was time for the award ceremony, and I went upstairs to sit at the computer and brought Jack with me figuring that Jack could help me cheer for Kathleen. 

The call started. Suddenly Dan danced into the room with balloons and Anna congratulating me via his cell phone. Then Kimmy V walked up the stairs with streamers, holding a trophy.

Holy smokes!

I’ve sat through these award ceremonies and always felt that the awards were so earned. Amazing people who have done so much for the ALD community. Yesterday I was honored along with Nic and Alison Adler, Kathleen O’Sullivan- Fortin and Dr. Keith Van Haren — some of my ALD heroes. To share such an honor with that crew seems a little odd to me. ALD Connect has done far more for me and our family than I would ever be able to do. They have educated us and supported us and given us a community. 

Community.

If you are reading this, I want you to stop and ask yourself if you have a community. If you don’t — find one. 

ALD is the worst thing that has ever happened to our family. It’s a shitty disease that stole so much from Jack and is now effecting my mother. It has me in constant fear of when I will develop symptoms that might make caring for Jack difficult. It’s a disease that has taken the lives of so many sons, nephews, brothers, fathers. I hate every ounce of this disease, but I’m so lucky to have found this community of remarkable people. They hold me up and provide support. They share information and are always there when I need to yell and scream or laugh and cry.

If I could, I would return this beautiful blue trophy — but I can’t, so I will put it on my mantel and remind myself every time I see it that ALD sucks — but the people are amazing — and maybe a little nuts to recognize me;)

ALD — shitty disease/amazing people.

Love, Jess

There is an angel donor that is matching donations this week. I would like to ask you to consider to making a small donation to this incredible organization.

Two Days

Loving my new fancy ALD Connect mask!

I rarely check my calendar anymore. What’s the point? Plans aren’t really being made anymore. We live our lives playing everything by ear. All my sentences with friends and family start with — Let’s see or If the weather is good or Hopefully.

But this morning without thinking, I opened up my yellow 2020 monthly calendar and there it was — ALD Connect Patient Learning Academy. I should be packing my bags today to go down to Baltimore for their annual conference. Not this year. This year — like everything else — the conference will be on Zoom.

The 2020 conference was scheduled to be in Baltimore. My mother and I planned to head down early to steal Anna away from her college apartment, spoil her with a nice hotel room and explore Charm City for a day before hunkering down at the conference. Being in Baltimore and getting to see Anna for the weekend was going to be icing on the cake for what is always a wonderful few days with the ALD community. It’s an opportunity to sit with people who understand our disease — families, doctors, nurses, advocates, pharmaceutical companies, biotech firms — all with one mission — to win the war against ALD. It’s always an exhausting few days, but every year I leave counting the days until the next one.

Oh well.

It’s not perfect, but I will log in on Friday, and for two days get to listen to the latest news about ALD treatments and protocols. I will get to hear all the updates about newborn screening and hear stories of people’s struggles and triumphs over our disease. And, I will get to at least catch a glimpse of some of my favorite ALD folks on my computer screen.

Fingers crossed that next year we can reunite in person. Until then, I will enjoy the two days and try to appreciate the fact that I don’t need to take off my sweatpants and can get away with just a little mascara.

Love, Jess

time to refocus (on what? not sure – give me time)

I know I’ve been a little unhinged lately. I know it when my friends start reaching out, “just checking in” and when people start asking if I’ve thought about getting a job or going back to school. I know it when at the end of the day, I still have my pajamas on and my iPhone tells me that I’ve spent HOURS on social media. I’m fighting with strangers and obsessively watching the news and finding myself checking my Twitter feed while sitting on the toilet. I don’t want to miss anything — as if my not being there is somehow going to lead to worse news.

Last night I had a ALD Connect Community Call on my calendar and logged on begrudgingly because I was going to miss time in front of the evening news. As the facilitator of these calls, I’m responsible for reminding callers that we are not to discuss the specifics of the phone calls. I won’t share details, but I will tell you that I got off the call in exhausted/relieved/happy tears. And, with a renewed sense of purpose. An hour and a half with members of the ALD community is what I needed to remind me of what’s really important.

My frustration with our current political situation/pandemic nightmare is that I’ve felt like I have no control. It’s coming close to how I used to feel about ALD. For years I would look at my son and his challenges and wonder why this had happened and why we couldn’t fix it. I struggled with making sense of all the WHYS.

Then I wrote Smiles and Duct Tape and Jack’s story started getting out to the ALD world. In sharing our messy journey, I realized that I wasn’t just telling our story, I was connecting to the community who understood our disease. People who knew what a Loes score was and what GVHD stands for. People who knew that we were unlucky not to have had an early diagnosis, but lucky that Jack never lost his vision and hearing.

It was something that I didn’t know I had longed for for years — connection. Being with our community helped me process what we were experiencing, learn practical things that have helped us and allowed me to help others Giving back —- helping others — is powerful. It got me from a place of feeling sorry for our family to feeling proud of our family and it’s strength.

Talking last night with several other ALD families, I realized for the first time in a while I was thinking about something other than when we could leave the house without worry or what will happen on November 3rd. It reminded me that the world doesn’t always make sense and we need to focus on what we can control. As much has I have – on some level – enjoyed getting feisty with non-mask wearing/virus deniers on social media, I know that I’m not going to change anyone’s mind.* I need to get back to doing something positive, something helpful — connecting — to our ALD community, the special needs community, to our MAPSO community, to our family.

I’m still wondering if it’s time to consider getting a job or going back to school. Writing, coaching, counseling, who knows? But, today, before even checking the overnight news, I was on my computer looking up ideas. Not sure if I will dive in, but it sure was a nice distraction.

Thanks to my friends — new and old — who were on that call last night and helped me refocus my energy. It’s noon and I have clothes on, have run some errands and haven’t yet gotten into any debates on social media.

Love, Jess

* I will still block anyone who is spreading misinformation. And, I encourage everyone to VOTE. For Biden/Harris💙😷✌️

ALD Connect Peer Mentor Program

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Thirteen years ago we were in the hospital living through transplant. We’d only heard the word Adrenoleukodystrophy for the first time four weeks earlier. We didn’t know anyone who had ALD or who had even heard of the disease. Our doctors didn’t even have much information to share.

We were terrified and we were completely isolated.

It took months to connect with any other ALD families — it was a time before social media and Googling ALD simply lead us to horrifying stories and even more horrifying statistics. Once we found a couple of other ALD families, we did find some comfort, but it was often short-lived as their journey’s took turns down dark paths. Fear and guilt weighed heavy in continuing those relationships.

It took years before our family really found our ALD community. Smiles and Duct Tape – the blog, then the book – found it’s way into the hands of a member of the board of ALD Connect and she reached out to encouraged me to go to their next meeting (thanks Kathleen). Attending a panel of ALD patients and caregivers and then my first ALD Connect Annual Meeting was empowering. It was years after Jack’s diagnosis and transplant and it was when I first realized that our family had reached another chapter in our ALD journey. Being surrounded by people who knew our disease – who lived our disease – was inspiring. And, we were no longer weighed down by fear and guilt and were finally strong enough to be able to provide help. Sharing our story with other families and doctors and organizations studying our disease — it’s (I hope) helped other people, but it’s absolutely helped our family find strength and take some power back.

ALD Connect asked me to attend a meeting last year to find out more about peer to peer support programs and how they can help rare diseases like ours. I was honored to be asked to represent ALD Connect and found the conference fascinating and reminded me of how our family felt thirteen years ago. Scared and alone.

The first speaker at the conference talked about the added stress of feeling isolated that families go through when facing a rare disease. They’re not just battling the disease, they are often battling the disease without any support from people who understand the disease the way ONLY PEOPLE WHO HAVE LIVED IT can understand.

ALD is a horrible disease, but the people effected are an incredible group. It took me a while, but most ALD families don’t take years to find the strength to help others. AND, thanks to social media, our community has been able to more easily find each other. Informally, many in our community have been acting as mentors, but ALD Connect is now rolling out a more formal program.

The ALD Connect Peer Mentor Program is now welcoming our ALD community to reach out if they would like to be paired with someone within our community who has experienced a similar path with the disease. A group of incredible mentors have been selected, representing each phenotype of our disease, and they are looking forward to being a resource for support, encouragement and a shoulder when needed. Please contact me or admin@aldconnect.org if you are interested.

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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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

 

 

 

ALD — crappy disease/amazing people

I hate that I know how to spell Adrenoleukodystrophy and know words like phenotype and chimerism. I hate knowing the difference between stem cell transplantation and gene therapy. I hate that I know dozens of mothers who have watched their sons suffer for months, losing all their abilities before this hideous disease stole them completely. I hate knowing that the disease that has effected every inch of my son’s life may start progressing in me.

I hate ALD — every little part of it except for one. The people!

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I just spent two days surrounded by ALD parents, patients, researchers and doctors at the ALD Connect Annual Meeting and feel overwhelmed by the love and support that filled the room. I’ve walked way feeling extremely lucky to be part of this community.

I talk about our duct tape a lot on this blog. Duct tape representing the people and things that have helped hold us together for the last eleven years. We would not have survived without our friends and family and teachers and doctors and therapists and nurses and dinners and wine. We’re so grateful and now we are adding our ALD family to the mix. At this point in our ALD journey, being part of this community is helping us take back some of the power the disease stole from our family.

The ALD Connect Annual Metting is all about learning and sharing. I have notes about different treatments and potential therapies that may lead to a cure for ALD.  I listened to how other counties are battling our disease. I heard about the remarkable momentum of newborn screening. I heard countless stories of strength and courage. I learned diapering tricks that made some people at our table cringe, but I can’t wait to try out. I shared Jack’s story, spent time with people I’ve known for years and met many who are new to our community.

Thanks to newborn screening, there is a new, quickly growing group in our community. Young families that have just learned of the disease and that their children have the mutation. These families have been thrown into our world and are holding on tightly to their beautiful children as they learn how to monitor and plan for a disease that MAY effect their child sooner or later.

Sitting in a room with parents who have lost children, parents whose children have survived treatment with varies amounts of success, and patients who are struggling every day with symptoms of the disease — I kept going from feeling sorry for these newborn screening parents to being painfully jealous of them.

When Jack was young and healthy, we had the luxury of just living. I can’t imagine having known what his future would hold. All the worry – all the planning. But, the benefit of having the knowledge that an early diagnosis provides, allows these families to prepare for the onset of the disease and will likely prevent following the same path that so many of us have been forced to follow. For two days I kept reminding these young parents that their stories will be different. They have the power in their hands to have treatments ready when/if their children need it. I also kept reminding myself that we can’t change Jack’s path, but if we can help others, we’re kicking ALD where it hurts.

 

Dan, Jack, Nonno and Mymom came down to join the Smiles and Duct Tape Book Club. I got to share our family’s story and it turned into a wonderful opportunity for many to share their own stories. Jack – as always – was a huge hit. For a kid with a lot of challenges, he always seems to have everyone around him smiling. Anna met me as the meeting was winding down, but she got to hear some remarkable presentations that further encouraged her to study hard and keep reaching for her goals.

I’m a little exhausted and need to make sense of my notes, but I’m already looking forward to the next excuse to spend time with our ALD community.

Thank you ALD people — I hate our disease, but I love the people!!!

Love, Jess

PS I was telling a friend about all the amazing people at the conference and kept referring to the newborn screening parents as the Newborn Housewives. My love of Bravo is ever-present and trust me — these ladies (and gentlemen) are as real (and amazing) as they get!!!

 

United to Beat Disease

I like to surround myself with people smarter than I am. While some people might find it intimidating, I find it thrilling to witness brilliance and like the challenge of trying to blend in. And, if I know I’m really … Continue reading

THIS is ALD #16 — David

Today is Rare Disease Day – a worldwide event to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. I am so proud of all of the ALD folks that are in DC this week raising awareness of our (not so) rare disease!!!

Today I am sharing another story of a beautiful boy from Mexico. More proof that research, education and newborn screening for ALD is a global issue. Meet David.

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THIS is ALD #16 — David

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Describing ALD in David is difficult. It’s a story that I never wanted tell, as if it were a bad dream that I have not yet awakened.

The first 5 years of David’s life were similar to any child. He was very playful and talkative with a great ability to learn new things. He was a child full of curiosity about everything.

ALD first showing it’s signs when David was 6 years-old with problems with one eye, poor school performance and unstable behavior which, according to the little knowledge of the disease in Mexico, only gave David bad diagnoses.

Knowledge of ALD in Mexico is very limited. This caused a lot of wasted time. David was only given glasses for his vision and psychological therapy for his unstable behavior. Frustrated with the initial diagnosis, we were determined to find answers. An MRI indicated that there was serious problems with the myelin in David’s brain. He wasn’t suffering from major issues until in October of 2016 (less then six months from his initial symptoms) when David had a massive seizure and that caused him to lose the ability to speak and walk.

It was another two months before David was finally diagnosed with ALD. He is the first member of our family to have been diagnosed with the disease.

We and the specialists in Mexico considered all of our options and decided to perform a bone marrow transplant (I was able to be the donor). June 16, 2017, David received his transplant in a hospital in Mexico. His current chimerism shows that the transplant has been a success.

David has lost physical abilities during the 17 months of this journey, but the child that the doctors thought would die 8 months ago is still here with us, receiving love and we all feel very hopeful that he will break the cruel statistics of children, like David, diagnosed late with ALD.

Currently David attends physical therapy rehabilitation every week. He is very brave and the desire to fulfill his dream is to participate in a children’s race.

Our family continues our fight with courage and perseverance — believing that this is the beginning of a new history.

— David Alejandro Rivera

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Thank you for sharing David’s story with us today. It remarkable to have received two stories from Mexico within such a short time. It emphasizes the fact that ALD is not a disease that is isolated to the United States. Although our fight is far from over here, we have made huge strides in ALD education/research (and we are not alone – there has been plenty of research/progress in other countries) – but it needs to happen EVERYWHERE!

If you would like to help new families who have been diagnosed with our disease check out the ALD Connect’s NBS SCOUT Initiative  — CLICK HERE!

Love, Jess

 

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!!!