Author Archives: smilesandducttape

maybe it’s not really a problem.

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Eleven years ago today we heard the word Adrenoleukodystrophy for the first time. Part of me feels like it was yesterday and part of me has trouble remembering life before that day.

Our family has certainly been through our share of challenges during the last eleven years. It’s one of the reasons that I’ve been surprised that I’m finding it so difficult to deal with the relatively small challenges we are facing these days – Anna preparing to head off to college, friends moving, an oil tank reeking havoc in our front lawn, deciding when/where to move, our rat-dog’s new haircut. My body didn’t betray me eleven years ago when our challenges were grave, why now? I have my theories that I won’t bore you with, but for now I’m trying to tackle what I can before I get swallowed whole.

My first test was last Friday. I spent a week preparing for a two mile drive – The Delaware Memorial Bridge. Trying to explain my new fear of bridges is impossible. There’s nothing rational about my explanations and it’s often made worse because I walk away from an explanation feeling like I sound not just fearful, but kinda crazy. Then, I worry about being crazy and what people must think . . .

I was dreading the drive to Baltimore and the huge bridge I would be facing, so when Jack and I got in the car on Friday I had a post-it note with a magic number firmly stuck to the dashboard. I was planning to call a “bridge escort”. I was not going to judge myself for it. It was the right decision. Safe and responsible.

The drive was going smoothly and I was relaxed thanks to my “safe and responsible” decision. Jack and I listened to good music and I caught up on some phone calls. I was on the phone with Mymom when suddenly I was faced with the bridge directly in front of me. It came out of nowhere. I was in the middle lane and frantically trying to figure out how I could pull over, “Mom, I’m here. I don’t know what to do. Oh my GOD – I’m ooooooonnnnnn the BRIDGE!!!”

Mymom was in the delivery room when I delivered both Jack and Anna and I swear she used the same words with me on Friday, “You can do this Tates. Keep your eyes on the prize. Just keep going. You’re almost there.”

By the time I reached the other side of the bridge I was soaked with perspiration, but I had done it. I felt overwhelmingly exhilarated. Adrenaline and pride is a great combination (and knowing at almost 50, Mymom can still be my cheerleader is pretty awesome too).

After a lovely weekend at Hopkins, I insisted on driving home so that I could face the two miles again. This time I managed to keep a decent speed and didn’t even sweat through my shirt. I can’t say that I’ve conquered my fear of bridges, but I’m not going to let a bridge stop me from moving forward – and certainly not stop me from visiting my girl next year.

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Sounds silly, but I do feel like I’ve taken a huge step forward. Last Thursday a father of one of Jack’s classmates said something to me that’s been helping, “If you can fix it, it’s not really a problem.”

So simple and just what I needed to hear. There’s plenty in our lives that we can’t fix and I no longer want to give strength to the crap we can. A weekend at Hopkins confirmed that it’s going to be a great place for Anna and it’s not too far – and the bridge won’t kill me. The oil tank is gone and our yard is getting fixed soon (money and time won’t destroy us). We are planning fun trips with our friends who are moving. We are prepping our house so that we can move when we are ready (months, years, who knows, but we are in control). Even Finn is working on growing his hair. If we can fix it, it’s not really a problem.

Eleven years ago I never imagined that we’d be living this life, but here we are. We can’t fix everything, but we will do what we can and take one bridge at a time.

Love, Jess

 

the good, the bad, and the ugly (not in that order)

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THE BAD

I continue to be dealing with anxiety. I had been feeling rather optimistic about my progress thanks to a few helpful books, learning to focus on my breath, essential oils, experimenting with meditation, standing behind a pretend waterfall and a wonderful therapist who reminds me to take all of these things with a grain of salt. I even drove over a small bridge last week and didn’t acknowledge it until I’d almost reached the other side. I was starting to think that maybe I had even reached the other side of this anxiety.

Then, life got in the way.

Our family is heading down to Hopkins this weekend for Dan’s 30th college reunion. I’ve been looking forward to seeing old friends and spending family time celebrating Dan’s alma mater and Anna’s future home (NOT home, temporary housing for four years). Everything was going according to plan until I learned that Anna can’t join us until Saturday because she has a lacrosse game and Dan needs to go on Thursday for business meetings. That leaves me and JackO to go over the Delaware Memorial Bridge alone.

The Delaware Memorial Bridge is HUGE!!

 

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Just writing this has me sweating. I’ve thought about taking the train or taking a longer route with a smaller bridge or waiting until Saturday to go with Anna or leaving early to go with Dan or calling for a “bridge escort”. Yes, that’s a thing. Over 400 people a year call a magic number from either side of the Delaware Memorial Bridge to get assistance. I know because I’ve done the research and have the phone number on a post-it note attached to my computer screen. I am officially ONE OF THOSE PEOPLE. I keep going back and forth about my plan, but (as ridiculous as it sounds) somehow that post-it has calmed my nerves a little.

Unfortunately, the bridge is not our only challenge this week. An attempt to be proactive and responsible Dan and I decided to take an old oil tank out of our front yard. We’re not ready to move just yet, but we know it’s in our not-too-distant future, so why not take care of any linger issues? We did our research, hired a reputable company and crossed our fingers. The finger crossing didn’t work. Our next step is soil remediation. We are not sure of the outcome, but it looks like this story may be far from over.

 

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I spent much of yesterday cursing, regretting ever buying a home and hating being a grown-up. The worst part is that we will not know the extent of the problem for several weeks – not great for someone who is spending too much time worrying about a long list of who/what/where/hows. Again, the sweat is rolling down my back as I write this.

THE UGLY

After a day with several steps backwards on my road to tranquility, I picked up my dog at the groomer. I didn’t know what to say when I first saw him. Finn has never had a good reputation. He jumps and barks and has even been involved in a lawsuit with our mailman. His one good quality has been his looks. He looks like a big, furry muppet. He DID look like a big, furry muppet. When I walked into the groomer yesterday he looked like a skinny, bald rat.

I felt sorry for the young girl who handed over his leash. She looked so sad and embarrassed, “His chart said you told us to cut off anything matted. At least he won’t need a cut for a long time.”

I tried to laugh, gave her a tip and told her not to worry. Then I grabbed the leash and tried to sneak Finn out to the parking lot without anyone seeing me walking a skinny rat-dog. Another step backward.

THE GOOD

Finn the rat-dog and I went together to go pick up JackO from school. I was steaming the whole way there thinking about bridges and oil tanks and money and bald dogs, but my mood turned quickly when I walked into the school and saw a friend and her son. I told her I was having a bad day and she said, “Jess, whenever I’m having a hard day I remind myself how lucky I am to have this kid in my life. Look at our boys – who’s happier then them? We get to wake up and see their smiles every day.”

She’s right. My boy – our boys – live in the moment and when the moment is good, they enjoy every second. I need to focus on the good moments and not worry so much about the complicated/expensive/scary moments. I know somehow we will get to Baltimore and our yard will get cleaned up and my rat-dog’s hair will grow back. I just need to get behind that waterfall and let my worries spill in front of me. Don’t judge them, just witness them and allow them to pass (am I don’t that right?).

Jack and I walked out to the car and I was starting to feel better. When I put Jack in the car he started laughing uncontrollably. I didn’t realize what was going on until I realized that Jack was looking at poor Finn lying in the back seat.

Life is more GOOD than BAD or UGLY.

Love, Jess

FYI – Rereading this, I feel a little guilty about saying that Finn’s only good quality is his looks. He is one of my favorite writing companions and always knows when I need a little extra love.

 

 

 

 

 

 

 

Get Swabbed

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Eleven years ago we were told that Jack had Adrenoleukodystropy and that the only way to stop the progression of this hideous disease was a stem cell transplant (bone marrow transplant). Anna, who was 6-years-old at the time, would have been the best option, but she was not a match. Our doctors were forced to look on the bone marrow registry for a potential donor.

Imagine being told that the only chance of saving your child’s life is if a stranger is willing to make a donation.

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At the time I didn’t know much about stem cell donation. Online research did little to calm my nerves. At any given time, over 7,500 Americans are actively searching the national registry for an unrelated donor and only 2 % of our population is on the registry. And, what are the chances of finding a donor? Caucasian patients – 75%, hispanic patients 45% , asian patients – 40%, african-american patients – 25%, and multi-racial patients are faced with the worst odds. Over 3,000 people die each year because they can’t find a match.

Jack was lucky. Although there were no matches on the bone marrow registry, a stranger had donated their daughter’s cord blood (another option for a stem cell transplant) and Jack received those precious cells which stopped his disease and saved his life.

We’ve helped host many drives in the last eleven years and there have been at least three lives saved by spreading the word and helping people register. We are doing it again this weekend thanks to our friend, Elizabeth Sarkisian, and our local YMCA.

If you would like to learn more about bone marrow donation or would like to add yourself to the registry (and are between the ages of 18-55, not active military, in good general health, and over 105 pounds) please join us on Saturday 12pm-3pm at the YMCA in Maplewood.

Love, Jess

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Please keep in mind we are looking for people to register that are committed to donating if called. Otherwise there is false hope and wasted time for patients. Thank you!!!!!!

THIS is ALD #20 — Manh Cuong

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When I reached out to the ALD community to share their THIS is ALD stories it’s mostly been mothers who have responded. I appreciate all of the input from mothers, but I’ve been wondering about the rest of the family. When ALD strikes, it doesn’t just strike the person and it doesn’t just strike their mothers — ALD strikes the entire family (the entire community if you live in a place like Maplewood). Tra My reached out to share her brother’s story and I jumped at the chance to share it with all of you. Meet Tra My and her brother, Manh Cuong.

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This is ALD # 9 — Manh Cuong
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This is my brother’s picture soon after he was diagnosed with ALD in September, 2000. We lived in Hanoi, Vietnam in a happy family with my parents. My brother, Manh Cuong, was born healthy in 1992 and he was a smart, funny and kind child. He loved playing football and drawing. He was a very clever boy, as my Mum would often say.

The symptoms of ALD started in the beginning of 2000. Manh Cuong grade’s slipped and he wrote badly as his vision declined. Unfortunately we didn’t get the right medical advice at that time, so we just thought that he was naughty and the bad writing was normal for a small and active eight-year-old boy.

We were wrong. An MRI showed that his brain’s white matter was damaged widely and only one doctor in Vietnam could conclude that it was ALD. The disease had progressed so fast that we couldn’t do anything. A bone marrow was too expensive to afford and too risky.

My mother is a brave woman. She took my brother to Paris with the hope that maybe a hospital in Paris may help. When they arrived in Paris, my brother could walk and within a month he was forced to sit in a wheelchair. When they came back to Hanoi, he quickly lost his ability to communicate. It was too late to do anything.

From the period that my brother became ill, until he lost his consciousness, he was always a kind hearted, funny and positive person. He encouraged my parents not to worry about him, he will get well soon. I still had hope that one day he could be healthy again so once in a lifetime we could see the sun together again, play Legos again.

My brother lived two and a half years after he was diagnosed – one of those years in a coma. He got his wings in May, 2013. He was ten years old. For us, his death wasn’t so bad. We are grateful that he doesn’t suffer any pain and has been released from a vegetative state – he is free. Grief hasn’t killed us, but made us stronger.

I am also a ALD carrier, but the situation is better now. I live happily with my husband and my daughter. My partner knows about my mutation and if we have a second baby, there is newborn screening in Singapore. ALD gives me chances to meet people like us, sharing information and medical aids and the boys could have better chances to live. Recently, I’ve started searching and searching to get more sources of information. In Vietnam, some families asked to share their story, avoid talking about it. I think differently — the more we share our situation, the better results we get so I am very open to talk about ALD.

My brother’s tomb is in the family cemetery. We visited him quarterly, bringing him roses to remember him, keeping in mind that we must be brave and live positively. We always love you Manh Cuong.

– Tra My

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Thank you for sharing your brother’s story with us, Tra My. Getting a sister’s perspective is interesting and your love for him is beautiful. Another fascinating layer of the story is that your family lived Vietnam and access to doctors who could recognize and understand our disease was limited. Your mother was brave to have done all she could do to find treatment for your brother, but time is limited with ALD — once it starts, it moves so quickly. Education for ALD needs to improve not just here in the States, but around the world.

Further proof that newborn screening needs to be accessible in the US and around the world so that we can change the future of ALD for everyone.

Love, Jess

 

 

eleven years of sharing

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This month marks eleven years of our family’s ALD story. I’m proud of the way that I’ve been able to share our story honestly and clearly for so long, but sometimes I do wonder how long I can keep it up. Sharing can be exhausting and sharing with a smile on your face can really wipe you out. Lately, I’ve been weighing the pros and cons of (over)sharing. This is what I’ve come up with.

I spoke at Seton Hall University last week. It’s the second time my friend Alison has invited me to speak to her class about “exceptional children” (children who differ from the norm, either above or below). I guess I am a bit of an expert. After all, I have two exceptional children – one on each side of the norm.

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my exceptional children

I was defiantly nervous going into it – everything seems to have me nervous lately. When I arrived at Seton Hall, I needed to sit in the parking lot for a few minutes to regain my composure (there was a whole lot of breathing and imagining being “behind the waterfall” and trying to remember what the acronym RAIN stands for and defusing essential oils into my face). It took several minutes, but I finally made myself get out of the car and once I got up in front of the students the nerves faded quickly. The kids were all ears as they listened to Jack and Anna’s stories, and thanks to the slideshow I created, most eyes were on the photos of my beautiful kiddies and not on my shaking hands.

Then, the following day, I was interviewed by a speech therapy student about Jack and his experiences in school and with therapies. A one-on-one discussion is very different from standing up in front of an audience with a speech prepared. I managed to get through the long list of questions, but there were a few long pauses as I was forced to swallow hard and hold back the tears. I’m okay with the stuff that I’ve shared often – like I have the script so memorized that the words are just words. It’s those questions that come out of left-field that can make me need to catch my breath as I find the right words without losing it.

I’ve considered that all this sharing might be adding to my feeling a little “less fierce” lately, and perhaps walking away from my (over)sharing might be a good idea. After some soul searching, I’ve decided I’m not going to. Although it’s often now accompanied with a little stress, overall I think sharing makes me stronger. I’m taking some control and (I hope) I’m doing something important. It’s helpful for other “special” families to hear what our family has gone through and that we’ve survived – even happy. And it’s important for people to understand what our lives look like. Many of the students I spoke with last week have their sites set on working with special children as teachers or occupational therapists or speech therapists. I’m in awe of this new generation, particularly those who are determined to better the world. They are strong and smart, but they can’t learn everything from books. They need to meet people who are living with disabilities. They need to meet people who work with people with disabilities. And, it can’t hurt to meet a mom of a magical son with disabilities.

I hope they walked away thinking — That could have been me. That could have been my family.

My goal isn’t to scare people, but people need to understand that you never really know how your story is going to play out. You can prepare and be careful. You can eat all your vegetables and exercise five days a week. You can make straight As and go to church every Sunday, but that doesn’t guarantee that life wont throw you a curveball (or many). It’s what you do when those curveballs hit that defines who you are.

Jack is just one example of an “exceptional” child who has taken his curveballs and knocked them on their ass. His story is a good lesson. Jack’s a good lesson with a killer smile. I am honored to be his voice and I will keep it up. It’s Important.

Love, Jess

PS The one-on-one interview was made more comfortable thanks to my warm hosts and enjoying a delicious meal at La Pergola in Millburn, NJ. If you haven’t been – go and tell them JackO sent you;)

 

 

 

 

 

the bearded boy . . . man

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Jack’s been trying out a new look lately. It was Anna’s idea and, as Jack’s personal shaver, we let her run with it. Jack’s now sporting a goatee. He looks like a man — I no longer have a child-child with special needs, I have an adult-child with special needs.

It’s different and it’s scaring me.

I remember sitting on the beach on Block Island several years ago when I saw a couple walking down the beach hand-in-hand. My first thought was that I was proud of living in a country that people didn’t need to hid their love. These men looked so happy as they were enjoying the sunshine and each other. Then, as they got closer, I noticed that one of the men was clearly helping the other manage the sand and the water. They weren’t lovers, they were friends or brothers and one had special needs.

Before that day, I hadn’t spent much time thinking about what life would be like once Jack was an adult. We’d done all the responsible things to prepare (wills and trusts and guardianship plans), but I hadn’t really thought about what day-to-day life would look like once Jack’s childhood was over. Suddenly I was filled with questions. How/where do you change a diaper inconspicuously? What kinds of programs are available for adults with special needs? What will JackO do without his beloved Banana’s hugs every morning? Will we need to move? Will we need live-in help to help bathe/dress/care for our son?

Like most thoughts that make me uncomfortable, I stored them away in the back of my mind. They’ve been living quietly there, but now when I look at Jack and his hipster beard, the thoughts and questions are flooding to the surface.

The problem is that I don’t know what to expect with this new chapter. I’ve worked really hard for us to be “a normal family with a special child” (I know “normal” isn’t the right word – What is normal? Perhaps a better word would be typical or standard.  I hope you understand what I’m saying). It’s taken ten years, but our family has finally reached a place where our lives (mostly) parallel the lives of our friends and neighbors. Sure, we can’t do everything that we could do before ALD, but with a few adaptations we’ve managed pretty well to keep things in line with our pre-ALD existence. We’ve learned to focus on what Jack CAN do, not his challenges. We’ve found schools and programs that have supported our goals and Jack gets to go to school each day with kids that we’ve come to know and a staff that’s devoted to these special teens. Our family has worked out ways to continue to do things we love. We spend time with family, go on long walks, visit with friends, travel.

We’ve also had Anna and all of her “normal” activities to keep us safely anchored in the normal/typical/standard world. Our lives work. We are happy, well adjusted, very few complaints.

Now Jack and his beard are a constant reminder that change is on the horizon. Our next IEP is focusing on preparing for his transition as he ages out of high school (there is some time, but we need to start the process) and Anna and all her “normal everyday stuff” is leaving for Baltimore before long. I’m not clear as to what our days will look like once these changes happen.

CHANGE is a four letter word.

I’m trying everything — books, breathing, essential oils, therapy. I need to figure out the optimal strategies for making this transition bearable — even positive. I’m making some strides, but I think what I really need to do is to remember that couple on the beach on Block Island. Neither seemed to be focused on anything but each other, the sand and the sunshine. They were acting the way that we do TODAY when we walk through life with our boy . . . our MAN.

We will get there. That’s what we do.

Love, Jess

 

 

 

a precariously perched pile

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In case you missed this on Today’s Parenting Team:

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It stares at me every time I walk into the office, with a look of defiance that often makes me turn around and walk away. But when I walk away, I feel even worse. I know it will grow even bigger by the time I return. The days I feel brave enough to confront it, I’m usually struck that it isn’t quite as fierce as I had imagined. After all, it’s only paper.

I’m not sure why I allow paperwork to be my nemesis. I spend hours a day at my desk, where I often waste plenty of time writing unnecessary emails and looking through social media, trying not to let my eyes rest on the giant pile to my left. It’s bills and school notices and various “to dos” – nothing wicked. Why do I avoid it until it’s two feet high?

A precariously perched pile of pieces of uninspiring nonsense that wakes me up in the night with worry, Did I pay that bill? When are the medical forms due? Have we gotten next year’s school schedule yet? Where did I put those tickets to the show this weekend?

The only thing I can come up with is that on some level, I must NEED to have those worries keeping me up at night. I must NEED a miscellaneous assortment of silly worries to keep my brain from lingering over bigger things. Lord knows I have some bigger things that would keep me awake. Worries that I can’t simply erase with an hour or two of tackling paperwork.

When you have a child with special needs, you have a multitude more to worry about than other parents – you just do. You have all the regular parenting concerns – How is my child doing in school? Are they getting all the proper nutrition? Have they been to the dentist this year? BUT, on top of that you have the special worries – How quickly will they end up in the hospital if they get that flu that’s going around? Does that restaurant have a bathroom big enough to change my child if they soil their pants? Who would care for my child if I get sick? What will happen to them when I am gone?

It’s not to say that special parents spend every waking moment being bombarded with lingering questions. Most of us manage to get through most days without falling into the well of despair. We learn to compartmentalize our thoughts and structure our days so that they are manageable. We learn to prioritize our daily list so that we don’t get over-tired. We know that we need to stay strong. After all, we are our children’s greatest hope for having the best lives they can. If we fall apart, who would fill our shoes?

So, we stay strong and focused and, when all else fails, we do things to trick ourselves into focusing on the mundane. It’s way easier to worry about whether or not I ordered my child’s new medication or paid the electric bill, then what will happen if he has another massive seizure.

So, the next time I walk into the office, I’m not going to turn away. Instead, I’m going to sit right down with my pile of papers and thank it for being there. Then, I am going to check my Facebook feed.

Love, Jess
I am a normal mom with a “special” kid. My family is complicated AND wonderful.

 

THIS is ALD #19 — Alan, Cesar and Maximiliano

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My name is Kim and I’m the oldest of four children. I have 3 brothers. Angel , Cesar, and Alan. My brothers were all born healthy. Until 2016 nobody knew this horrible disease ran in the family.

December, 2015 my mom started noticing changes in my brother Alan – he was eight-years-old. He was having hearing problems and a hard time at school. My mother took him to a hearing specialist and they didn’t think anything was wrong. By May, 2016 things got worse. Alan started complaining of a terrible headache and was taken to a local hospital. They transferred him to a bigger facility, but the doctors had trouble figuring out what was going on. It wasn’t until they did an MRI that they discovered Alan had ALD.

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Alan and Cesar before ALD

My parents are Mexican and speak little English. They understood the diagnosis, but had many questions. When they learned that ALD is genetic, my two other brothers, Angel and Cesar, were tested — Cesar tested positive for ALD. My parents were heartbroken.

This was the same month I found out I was pregnant. When my parents shared the news with me, I took it pretty bad. I was six months pregnant when I found out I was a carrier. I learned that, since I was having a boy, he would need to be tested as soon as he was born.

Alan’s health started going down hill quickly. Doctors told my parents Alan had very little time and there wasn’t anything anyone could do. He lost his hearing, vision, speech, and started having trouble walking. My mom became his full time caregiver. Cesar was not as symptomatic and qualified for a bone marrow transplant (BMT) which he had in December, 2016. My mother was now caring for one son who was recovering from a BMT and another who’s disease was moving quickly.

My son, Maximiliano, was born just after Cesar’s BMT and was 3 weeks old when he was diagnosed with ALD. By January, 2017 my brother Alan was in a vegetative state and Cesar was doing well and was out of the hospital. It was really hard on everyone. We couldn’t believe three people in our family had ALD, including my son. The reality really set in when on March 23, 2017, my brother Alan lost his fight to ALD – just a few days after his 10th birthday.

Maximiliano is now a year old and he’s the sweetest little boy ever. He’s so smart, always smiling, and super curious. It’s really hard for me knowing my son has ALD. Knowing ALD took my brother away from me. Maximiliano is seeing specialists at UCLA and at Santa Barbara. I’ve gotten in touch with doctors at the University of Minnesota and I plan on taking my son this summer, and seeing what they have to offer.

Next month will be a year …a full 365 days since my little brother left us. It’s been really difficult for all of us to continue our lives without him. Holidays were more sad than happy. There were a lot of ‘firsts’ without Alan. In my heart I know he’s in a much better place. He’s at peace.

I really wish Alan had been diagnosed sooner and could’ve gotten treatment. Newborn screening could’ve saved his life. I think about everything that’s happened in the last 2 years. I’m a strong believer in God, but can’t help but think to myself why did He let this happen? To an innocent child? This horrible disease ruined my family but also made it stronger.

—Kim

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This beautiful family lives in California, which has now added ALD to it’s newborn screening panel. I try not to spend too much energy with “if onlys”, but I am glad that future generations of ALD families in CA will have the luxury of knowing and preparing. Alan didn’t have that luxury, but Cesar is doing well because he was treated in a timely manner and Maximiliano is being monitored by a team of specialists who will be prepared to help him IF he becomes symptomatic.

Corresponding with Kim has been an honor. She has been so honest and informative. I wanted to share two other notes I received from her last week:

I forgot to tell you, when I was pregnant I would place both of Alan’s hands on my belly, and he would get this huge smile and hug me because he knew it was me. He couldn’t see, but he was still aware of his surroundings. Before he lost his eyesight I showed him a picture of my ultrasound and he told me my baby looked like a little alien! I remember he was so happy he was going to be an uncle …

The night before my brother passed away, my mom had a dream. She told me Alan appeared to her in her dream and he told her that he was going to be okay but he didn’t want her to cry. I get the chills every time I think about this. I guess that was his way of letting my mom know … the next day he passed.

Thank you Kim.

 

Love, Jess

the third time (isn’t always) a charm

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I know that, as a woman of a certain age, I’m supposed to despise snow days. It’s part of being a grown-up to give up any longing for days that are unexpected and inconvenient. Days where you need to alter from your routine. Maybe it says something about me, but I usually love a good snow day.

I start monitoring the television and internet as soon as I hear that there’s a potential storm brewing. I drive my family nuts with updates days ahead of time and Dan laughs when the look of disappointment comes over me if we ever lose the coveted “Storm Warning” status. And, if you see me when the “snow day” call comes in from the schools, you would wonder how this woman who has trouble making it to her one-day-a-week yoga class, can bounce across a room with boundless energy.

I love snow days because it’s an excuse to hunker down with my family without structure and rules. I like making french toast and vats of soup and working on a puzzle where my only responsibility is to go outside and shovel every couple of hours. We watch bad TV and lounge by the fire AND staying in pajamas all day is a bonus that makes the whole thing perfect.

Wednesday was one of those great snow days that was called the night before so we could go to bed without alarms set. We woke up to nothing but a little wet snow. I was crushed, but kept watch for the promised thunder-snow and 12 to 18 inches. It finally got going by mid morning. At last, we were trapped together as a family with a fire roaring in the fireplace. We all had some projects to do (me – taxes, Dan – paperwork, Anna – some sort of nerdy DNA project, JackO – a marathon of Impractical Jokers), but we would meet back periodically for relaxing breaks and fattening meals.

Day one was perfection.

When we got the call that there would be another snow day on Thursday, it didn’t come with as much cheering. I didn’t make french toast and we were out of firewood. Daylight revealed that this storm had been more destructive than pretty. We lost a huge branch that missed our house by an inch (we are soooo lucky). Trees were down all over town and many of our friends were without power. The snow was heavy to shovel and Dan’s back was killing him. Suddenly I was looking at the calendar wondering when I would catch up on all my must-dos and I’d already watched all of my Bravo shows. The dogs were antsy and driving me nuts and even ever-easy JackO looked like he was going stir crazy – his Impractical Jokers weren’t even keeping him entertained.

Day two was a little lame.

Last night when my phone alerted me that they had cancelled school again for JackO, I nearly cried. Dan got to escape to work and Anna seemed blissful as she left the house for school this morning. Jack and I, on the other hand, are still in our pajamas. No fire, no french toast, and the puzzle is finished.

Day three stinks. It better not snow on Monday.

Love, Jess

 

 

THIS is ALD #18 — Margaret

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If you haven’t read THIS is ALD #17, go back. It’s an incredible piece showing how ALD can weave itself through a family for generations. It was shared by an ALD mother/daughter/grand-daughter/great-granddaughter. She is also a symptomatic carrier. THIS is her story.

 

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THIS is ALD #18 — Margaret

I first started noticing little things, symptoms, in my 20s. The first thing I distinctly remember is the feeling that ants were crawling on my lower legs. Then I had back spasms; I’d be sitting at work and my back would knot up. I attributed it to having to sit a lot at work. But then I started visiting a chiropractor who did massages and we couldn’t figure out why or how my neck muscles used to get so tight in between appointments. I then started to visit a massage therapist, leapfrogging between the chiropractor—and my neck and shoulder muscles were still really tight, like all the time. I thought it was stress, not just at work, but my personal life was crumbling around me. I felt like a pinball, bounding from one circumstance to another for a year. I wasn’t taking care of myself, I was always fatigued, and my migraines started getting bad again.

I started having problems wearing shoes with heels in my early 30s. Now, I can only wear flats that go all around my feet (no flip flops). My feet are always numb but surprisingly sensitive. My hands are often numb too—I put them down so the blood flow is restored and I can feel again. I have little grip strength. I also have Raynaud’s Syndrome, wherein the capillaries in my fingers and toes shut when cold, so they get white and numb. I don’t know if it’s an AMN thing or a family thing.

I’ve had to get a cane to walk with so that I don’t look like I’m a drunk meandering along the walkway. I got a shower seat so I don’t fall in the bathtub. I have orthotics that go down my lower legs and into my shoes the length of my feet so that my toes don’t slip on the ground. I have an implanted drug infusion pump that puts baclofen (a medication that helps relieve spasticity) directly into my spinal column.

I have pain every day, it feels like my bone marrow is boiling. I visit my pain doctor every month. I have taken every medicine there is. I take 9 medications every day, besides the baclofen, and have another 4 I take as needed. Fatigue is a huge issue for me, both as a result of medicine side effects and exhaustion from dealing with pain.

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I’ve been on Social Security Disability for 10 years — a combination of AMN, Migraine, and anxiety and depression. It took two tries over almost three years to get approved. I’ve had to be reassessed twice and will again. There’s nothing like watching your abilities slip away, knowing that this shell of a body will fail me, I just don’t know when, or what my quality of life is going to be in the meantime. I don’t mean to end on a negative note, it’s just that that’s what I’ve been dealing with internally the past few months.

— Margaret

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As I’ve gotten more involved with the ALD community, one question that keeps coming to mind has been, What about the carriers (women with the gene)? There are some differing opinions on the subject, but more and more the answer is that people don’t carry ALD, they have ALD. Even women.

I won’t go too much into the science behind X-linked diseases like ALD (frankly I don’t know too much about them), but here’s a short version. In the case of an X-linked disease the mutation affects a gene on the X chromosome. Males, having only one X chromosome, are effected by the condition if the single X they inherit from their mother has the mutation (or the mutation happens spontaneously). This is why ALD is generally passed from mother to son. Females have two X chromosomes and the unaffected X chromosome should HELP their body compensate for the gene mutation. It is a common misconception that females cannot have X-linked disorders and that they can only be unaffected carriers — In truth, diseases like ALD are proving that while females tend to be better off than males (because one of their chromosomes is producing the correct protein), they can, and often do, have the disease in varying severities.

I have heard that there are cases of full-blown cerebral ALD in girls, but I can’t verify that. But, I have met several women over the last year that are clearly effected by our disease. Neuropathy, bladder dysfunction, spasticity and balance issues seem to be quite common for women with the ALD mutation, especially as they get older. Unfortunately Margaret falls into the category of “symptomatic carrier”.

Thank you Margaret for your honesty. It’s important for people to see every way ALD can effect a person. It’s also important for people to understand that ALD can effect every person with the mutation. Again – newborn screening identifies people — both genders –with the gene so that they can be monitored and treated properly.

Love, Jess