THIS is ALD #23 — Mason

Are there any GOOD ALD stories? I guess we need to define the word GOOD.

good
/ɡo͝od/
adjective
“a good quality of life”

 

Jack (THIS is ALD #1), as a GOOD ALD story. He’s happy and can walk and see and hear and laugh. Although his life is full of challenges, we’re grateful that he’s enjoying a wonderful quality of life. If you look through the previous 22 THIS is ALD stories we’ve shared, you will find other GOOD stories, but sadly ALD is not a disease known for GOOD stories. As Newborn Screening spreads across the country (the world), GOOD stories will take over. Until then, a determined family, curious doctors and a lot of luck needs to come together for GOOD to happen. Mason had all three.

 

THIS is ALD.jpgTHIS is ALD #23 — Mason

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Mason was born on March 19, 2011- completely healthy according to doctors. When he was 4 years old, he was admitted to the hospital for the first time. He had gotten sick out of nowhere — started vomiting and could not get out bed on his own. In the hospital, all the tests they ran were negative, so after a few nights we were sent home with no answers. They said it was just a virus.

Everything went back to normal for close to a year when the same thing happened, but this time with a fever. Mason started vomiting and became weak and dehydrated and refused to get out of bed. He was admitted to the hospital for a few days and again all the tests came back negative and we were sent home being told it was just a virus. Three to six months later, it happened again and then again in December, 2017. It was the forth time he was admitted to the hospital with similar symptoms. Luckily, that time an endocrinologist was asked to come see him. The doctor reviewed Mason’s charts and immediately ordered an adrenal test. Mason was diagnosed with adrenal insufficiency and put on hydrocortisone. Before we left the hospital, the endocrinologist mentioned the word “Adrenoluekodystrophy” (ALD), but didn’t give us many details. All he said was that Mason was not showing any signs of the disease (other than the adrenal insufficiency), but to be safe, he ordered an MRI to rule it out.

The MRI was scheduled for January 25, 2018. After Mason had his MRI, I started Googling ALD, and convinced myself he did not have it because we had no family history of the diseases and he was not showing any symptoms. His appointment with the neurologist to review his MRI was on February 19, 2018 and I was calm leading up the meeting. February 19th arrived, and we got the news I thought for sure we would never hear — Mason had ALD.

I broke down and was terrified that Mason would start showing signs of the disease quickly. Our neurologist called Dr. Lund at University of Minnesota Masonic Children’s Hospital (Dr Lund is a leader in ALD treatment). Within a couple of weeks we were heading to Minnesota for our consultation for a bone marrow transplant (BMT). We were there for a week and found out Mason’s LOES Score (a determination used to rate the severity of the progression of the disease – it ranges from 0-34) was between a 3 and 4 and he was a good candidate for a BMT.

Instead of starting the process right away, they sent us home to wait for insurance to approve the treatment. That was the longest and most stressful month of our lives. Waiting on our Michigan Medicaid to approve an out-of-state BMT that was considered a “trial or experiment” (BMT, if successful, stops the progression of the disease, but is not considered a cure). For a month, a day did not go by without me crying on the phone with the insurance company or the doctors in Minnesota.

 

At the beginning of April, we finally received approval from insurance and were told that our doctors found and 8 out of 8 cord blood match. Mason had his transplant on April 26, 2018 and it went better than doctors expected. We were discharged from the hospital only 12 days post transplant.

I know Mason’s story is a miracle and I have not heard many other ALD stories as positive as ours. We are very blessed to have had the transplant in time and that Mason continues to be symptom free (with the exception of adrenal insufficiency). Michigan does not do the ALD newborn screening yet, but will soon hopefully.

-Erica

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Reading Mason’s story gave me chills. My hope is that stories like his will be the new face of our disease. An early diagnose, treatment, followed by a healthy life.

I’m by no means saying that ALD will ever be an easy diagnosis. Even with the “luck” of having that endocrinologist being wise enough to test for adrenal insufficiency and then following up with the MRI which properly diagnosed Mason, his family faced a lot of challenges. Fighting with insurance companies, financial responsibilities connected to treatment/travel/etc, the pain/discomfort/agony of a transplant — all these things will never make ALD an easy diagnosis. Still, the future looks bright(er).

And, Mason’s smile is super bright!

Thank you Erica for sharing Mason’s ALD story.

Love, Jess

Christmas, Facebook and (I’m guessing) a whole lot of friend requests

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Jack’s incredible one-on-one at school, Monica (also knowns as Jack’s School Mom), sent me a note this week — an informal Christmas list from Jack. I was eager to see what he’d come up with. Our silent boy can be hard to shop for. Top of the list was that he wanted his own Facebook account. I can’t believe I’d never thought of that myself. My 20-year-old son shouldn’t share a Facebook page with his middle-age mama. So we sat down today and set up his account. I encourage you to friend him and see what he comes up with. I will help him, but promise that it will be all Jack — all the time. For a quiet kid, he has a lot to share!

Merry Christmas JackO!

Love, Mom

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(another) man down

Generally, I’m a really good caregiver. I’m not patting myself on the back – I’m the first to admit that I’m not great at a whole lot of things, but if you ever need someone to hang with you while you’re waiting in doctor’s offices or recovering from surgery or binge watching mindless television with your feet up, I’m your gal. 

I don’t mind dressing changes, I’m good with organizing medication and I know my way around the kitchen. I’m also not scared of those awkward, messy situations that can come up. I’ve had piles of experience with such things.

 That said, I’m a little tired right now and likely not winning any awards for Caregiver of the Year.

Dan had shoulder surgery last week. Poor guy has tried everything from physical therapy to chiropractors to some guy who I’ve only heard called The Witch Doctor who filled Dan’s arm full of electrical stimulation. Nothing worked, so Dan finally gave in and scheduled surgery.

Nothing huge, but I was a little nervous about what to expect. It was Dan’s first surgery – ever (impressive for a person 51 years old) and I wasn’t sure how he’d be as a patient and how PATIENT I would be with a new patient to care for. Dan, always wanting to limit my stress, often down-plays things. Leading up to the surgery, he’d refer to the recovery as “a day or two”. Even as we drove to the appointment last Thursday, he was sharing that he would be starting PT within a few days was looking forward to a party we were invited to on Saturday night.

I suspected that Dan was being a little overly optimistic, and when I walked into the recovery room my suspicions were confirmed. My strong, handsome husband looked like he’d been in a fight. When I set him up on the couch when we got home I started to really appreciate that he wouldn’t be able to do much for a while.

You never really appreciate how much someone does, until they can’t.

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Caring for Jack requires a lot, but after 11+ years, days go by without much thought about the details. I’m the primary caregiver during the week, but nights and weekends Dan and I split the responsibilities. Without any planning, we take turns brushing and bathing and feeding our boy. Not that there is never confusion over whether or not Jack got his afternoon meds and you might hear us bribing each other to take a turn feeding Jack when we’re out at a restaurant – but mostly things run pretty smoothly.

I’m used to taking 100 percent of the responsibilities when Dan is traveling, but this has been the first time that Dan is here and not able to help. He’s down an arm and caring for Jack requires two. So does cooking, walking the dogs, doing the dishes and the laundry, and driving. He’s making a great recovery, but I don’t think Jack duty (or Jack doody) is in Dan’s future any time soon. Jack is strong and I’m not sure he can appreciate how careful he needs to be with his Dad. For now, I’m in charge of all meals, bedtimes, showers, medications, errands, and poop.

It’s no ones fault and it isn’t the end of the world, but last night as I was falling asleep, I wondered if there was any way that I could plan a little surgery for myself sometime soon.

Love, Jess

Dan skipped that party on Saturday night. I went with friends and did my best to be festive enough to represented us both. Boy did I miss having Dan take the morning shift yesterday;)

I say I am doing things solo, but I do have some help. Thank you Lilly and Maria for everything you do for us!!!!!!

no need for a recount

I try not to get political on this blog. One reason is that I know that there probably isn’t anything I could say that would ever change anyone’s mind AND I’m guessing that considering I’m a pot-brownie baking, Latin American born woman who has a son with disabilities/pre-existing conditions and a daughter who is set to break many glass ceilings – you know where I stand.

In the last two years, the word president has taken on a new definition. Often more of a punchline than a title of respect and honor. So, when I saw this poster hanging on the walls of CPNJ Horizon High School a few months ago I was rather surprised. Who would want THAT job?

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You know our boy is always up for a challenge. Jack ran his campaign with the motto of being the “voice of the high school”. I can assure you that it was not an empty promise. Jack may not speak, but he understands everything and has the pulse on what is important to his classmates. He listens, he understands, and he knows how to get things done. My guess is that had he won, there would have been a few extra dance parties added to the calendar this year.

That’s right. Jack did not win. He lost to a very worthy opponent and Jack conceded with grace. From what I understand he shook the new president’s hand and wished him well (with his iPAD).

When I got the news, I can’t say that my first reaction was as full of grace. It was more, “What the F*%&!?!? How did my boy NOT win!?!?!”Jack’s life fell apart 11 years ago, but we glued (or taped) it back together and now he should get EVERYTHING he wants!!!”

Once I caught my breath, I laughed. Who needs all that work anyway? Besides, I love that his school doesn’t have an “all kids win everything” policy. Just because the students have complicated lives, doesn’t mean that they can’t handle some disappointments. In fact, I’d argue that this is a crew can handle more than most people in Washington.

Still, I worried a little about how Jack was feeling, so I picked him up early and greeted him with a big hug. He didn’t seem an worse for wear. I told him how proud of him we all are and that he should be proud that he ran an honest campaign without any outside interference from Russia. Then, I reminded him that he still won the popular vote at our house. He popped me on the head, smiled and got in the car.

Jack’s up for his next challenge. Maybe Prom King?
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Love, Jess

Halloween 2016 – we thought it was funny. Elections don’t always go as expected.

 

Our Thanksgiving Chime

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The calm before the storm

We have an alarm that sounds every time the front door opens — a two-note chime. It’s usually followed by Finn (bad dog) barking loudly and racing to see who’s arrived and how long he can get away with jumping all over them. Last week, the constant chime exhausted poor Finn so that by Wednesday, all he could manage was to lift his head off the couch for a second to see who’d walked in the door before returning to his nap. 

At the beginning of the week, I too would race to see who’d arrived so that I could give them some love and offer them a snack or something to drink. After a couple of days, I figured everyone knew that I loved them and how to walk to the kitchen.

Anna was home for Thanksgiving (THANKS GOODNESS) and our dear friends – the Mackays – joined us for the holiday week. An extra five people and a dog, adding some noise to our “far too quiet since Anna left for college” house.

We invited another ten people and two dogs for Thanksgiving Day. Nineteen humans, five dogs, two turkeys (one fried), six pies, two stuffings, bourbon sweet potatoes, mashed potatoes, green beans, salad, cranberry sauce, and more wine then our poor recycling cans could manage. Crazy, delicious, fun AND constant door chimes.

We said goodbye after Thanksgiving dinner to ten guests and two dogs, but added two more people on Friday (my best friend from college, Enger, and Katie Mackays roommate, Hanna). I feared we’d not have the energy to entertain them, but we managed. We even threw in a little party on Saturday night to round off the week!

The front door kept on chiming.

Yesterday we woke up and everyone did their part cleaning up the house, stripping beds and starting the laundry. Then, one by one everyone headed out – back to college, work, reality. I usually love the quiet after the storm of a holiday, but everything was so perfect last week, that I really didn’t want it to end.

I’ve been stressing lately about some things, but when it comes down to it, our lives are wonderful. Our friends, our family – they’re really all that matters. I can’t wait for the holidays to continue. We need some time with the Torrey side – and our door needs to go back to chiming!!

Love, Jess

PS Anna comes home in 17 days and the Mackays promised to come for New Years!!!!

 

Mr. Bus

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Last week Jack’s bus driver told me that he was retiring. I’d be lying if I said that we had a close relationship. Sure, I’ve seen Mr. Bus every weekday morning for the last couple of years, but mostly it’s been a series of quick hellos and goodbyes. That said, I did make a point of telling myself to grab a little gift for him as a thank you.

I forgot.

Friday morning I remembered and started scrambling around the house searching for a gift. I usually have some Amazon gift cards handy (you should see the list of teacher gifts we deliver twice a year), but I couldn’t find anything. Then it occurred to me that I could give Mr. Bus a copy of Smiles and Duct Tape. I wrapped up the book with a big gold bow and as I handed it to Mr. Bus I said, “Thank you for everything you’ve done for Jack and his buddies. All these kids have a story. This book is Jack’s story.”

He looked down at the book and I couldn’t help but think he was a little disappointed that it wasn’t a gift card or a nice box of chocolates, but he said, “Thank you.”. I stepped off the bus, closed the door, waved goodbye and walked back into the house — that was it. People often come and go in life without much of an impact.

To my surprise, Mr. Bus returned to our house on Monday. He explained that the new driver couldn’t start for a few days. Then, he said that he’d started the book and wanted to thank me for sharing it, “All these years and I loved working with these kids, but never gave much thought as to how they got here.”

It was sweet and I was relieved that my gift hadn’t ended up on a dusty shelf. We spoke for a few minutes about Jack, our family and Mr. Bus’ retirement plans. Then I stepped off the bus, closed the door, waved goodbye and walked back into the house.

This morning Mr Bus arrived and announced that today was officially his last day. I put Jack in his seat and asked Mr. Bus if I could give him a hug goodbye. He didn’t hesitate. He got out of his seat, climbed off the bus and walked around to the sidewalk. We hugged like old friends, then he grabbed me by the shoulders, looked me in the eyes and said, “Mrs. Torrey, I finished the book and I want you to know that before God comes to take you home, you’re going to hear Jack’s voice again. I had one of those dreams last night.”

I couldn’t really speak through the tears that were suddenly pouring out of me. All I could do was nod and say, “Thank you.”

Mr. Bus climbed back into the bus, gave me a wave goodbye and pulled away. I stood frozen on the sidewalk.

People often come and go in life without much of an impact. Sometimes all you need to do is give a little and it’s amazing what you can get back.

Love, Jess

never too old to dress up;)

I realize that my children are 18 and 20, but they both still LOVE to dress up for Halloween.

Being off at school, Anna left few hints of her plans, other than an Amazon purchase that I did NOT approve (you still owe me $30 Banana). She had two parties this weekend and sent me photos of her costumes. Although I know that it’s inappropriate for my underage girl, I couldn’t help but laugh at her first costume – Whispering Angel.

IMG_3673And, who doesn’t love a good vampire?

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I had to be more hands-on with Jack’s costume. I spent weeks trying to find a clever idea, when it found me at Target last Friday. A large flamingo hat almost screamed at me from an isle full of Michael Myers, Demogorgons and Black Panthers. I introduce you to The Dancing Flamingo!! ****

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I got to spend some time with the Flamingo at the Trunk & Treats event at CPNJ Horizon High School. Always fun to hang with Jack and his schoolmates AND I got to sneak in a little last minute campaigning. Not sure if you’ve heard, but there is an election coming up next week . . .  Jack is running for president!!

 

Tomorrow I head down to Philadelphia for the ALD Connect Annual Meeting and Patient Learning Academy. This year they are hosting a book club where I am leading the discussion on Smiles and Duct Tape. I’m looking forward to spending time with many of our ALD community and introducing Jack (and Dan, Anna, Mymom and Nonno) to the crew.

Love, Jess

**** In case you are new to Smiles and Duct Tape, Dancing Flamingo has been a nickname for our boy for a while. To learn why, CLICK HERE.

 

 

two hours, some hugs, a godfather and a shave

Anna headed north this weekend to visit her boyfriend, Will, at Fordham. We tried not to give her a hard time for choosing him over us – after all, she’s in college, we just saw her two weeks ago and she’s in love. We followed her through texts and social media as she explored his campus and then headed to see friends at NYU. It’s still strange going from knowing every detail of your kid’s life, to hearing about adventures after the fact — or watching them realtime on my iPhone.

She and Will decided to head home Saturday to hangout with some pals who were in town. We had plans to go to visit family in Pennsylvania, so we left Anna with strict instructions to watch the dogs, lock the doors and NOT have a party. Then we watched her come home for the first time in two months through our Nest cameras — I know it’s creepy (we have them for security).

Anna had a great time (and no party that I could see from my iPhone) and we also had a great time seeing the Perry/Brooklyn Torrey gang, but as soon as we ate breakfast Sunday, we said goodbye so that we could catch Anna before her Bolt Bus took her back to Charm City. It left us with a two hour visit with Bananz.

Two hours with our girl doesn’t sound like a lot, but we made the most of it.

Walking in the door of our house I needed to look passed the stuff littering the foyer floor and pile of dishes in the sink to focus on loving our girl. We hung out around the kitchen island, enjoying sandwiches from the Millburn Deli (Anna’s got her Godfather fix) and hearing all about how everyone is doing. Funny that when I asked about how her pals were doing, Anna started with unfamiliar names. It took me a minute to realize that she was talking about her Hopkins friends — another reminder that things have changed a bit. We did eventually hear about the adventures of the kids we’ve known since elementary school — I miss all those wonderful humans and am thrilled to hear they’re doing well.

After lunch, we got to do what has become an important activity when visiting with Anna. Shaving.

I hate shaving Jack. For some reason shaving my twenty-year-old son, while he’s being held down making horrible faces, is painful for me — as if it puts a spotlight over how different our lives are. Since Anna left for college, I look at anyone who walks into our house as a potential barber. Be warned — if you come for a visit, you could be next. We’ve had a few good volunteers, but no one is as skilled as Anna. She manages to keep Jack smiling and gets every last hair without a nick or a scratch.

The barber decided it was time for to say goodbye to the goatee. I rather liked it, but it’s barber’s choice at our house, and he does look awfully handsome!

After the shave, it was time to say goodbye. It’s always hard to say goodbye to Bananz, but we will see her in two weeks for the ALD Connect meeting and my nephew’s baptism, and Thanksgiving is right around the corner!

I’ve got to say – I am getting better with being a college mom.

Love, Jess

Did you ever read Anna’s college essay? If not – CLICK HERE!

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

Impractical Jokers After Party!

Last Monday we were invited to be in the audience of the Impractical Jokers After Party – an after show where the Jokers sit around and talk about the latest episode. 

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When Uncle Matt shared that he had scored us tickets, Dan and I fought each other for who would tell Jack. Jack loves a lot of things – fresh cookies, 70s classic rock, cute girls, long walks on Block Island – but one of his absolute favorite things is the Impractical Jokers. I know when their show is on in the den, because I can hear Jack laughing from across the house. Jack, the kids who doesn’t say a word, can fill the house with his laughter when his buddies are on. That alone is enough to make us all fans of the show, but the truth is that our entire family is addicted to Impractical Jokers. It’s ridiculous. Humor made for immature teenage boys, but appreciated by a mature pre-med college girl, a finance guy and a middle-aged housewife.

It was a great day, but a little exhausting. The small audience was on folding chairs surrounded by wires and lights and cameras swinging from the ceiling. Imagine four hours of holding Jack down so that he wouldn’t pop out of his chair to race across the room to tackle (maybe even lick) his favorite celebrities. It would have been embarrassing, but I was even more worried about him taking down a few innocent bystanders and a load of expensive equipment.

Good news – Jack didn’t manage to pop out of his seat, nobody was hurt, all the fancy cameras were spared, and we had a great time!

Thank you Uncle Matt for making Jack’s dreams come tru — THAT is not a misspelling. Impractical Jokers in on truTV;)

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Today Jack and I are heading down to a Clinical & Pharmaceutical Solutions through Analysis conference in Philadelphia to share our ALD story. Not too sure what to expect, but guessing that there won’t be too many cameras and that we shouldn’t walk around asking people, “Where’s Larry?”.

Love, Jess

The After Party episode is scheduled to air on November 28. If they show the audience, look for us! We were on the far right in the second row. Jack had a ridiculous smile on his face the entire time, Dan was clapping so loudly that he was scolded (true story), and Matt and I were frantically holding down the boy.