Monthly Archives: January 2019

THIS is ALD #25 — Grady

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Ten days ago I got a text from a dear friend from MA, “Watching the news on NBC – it’s about newborn screening for ALD.”

I stopped what I was doing, went to the computer and Googled — NBC, MA, ALD and this popped up.

CLICK HERE

I thought, What a great ALD story! I should reach out to this mom. Within a day, we found each other — ALD is a small world (and thanks to social media, it’s getting smaller every day). We exchanged notes on facebook, emailed back and forth, and then spoke on the phone. For me, it’s like talking to an old friend when I find another ALD mom. I asked her tons of questions and let her share and vent. Of corse, I also asked her to please let me share her family’s story on THIS is ALD.

THIS is ALD #25 — Grady

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I thought he had too much wax in his ears. That’s how this started, wax. My boys always have gross waxy ears, no matter how much I clean them. Pretty gross right? I thought Grady couldn’t hear me well because of waxy ears. 

So after about two weeks, I decided to bring Grady to his pediatrician. She checked and they were clear. We proceeded to do a hearing test. He passed. Gut punch #1. 

His pediatrician suggested we follow up with ENT. I asked if it could be neurological. She didn’t think so, everything else was perfect. About an hour after we got home, she called me saying, “You are not an alarmist with the kids, let’s see an ENT today”. 

She got us in and he passed most of the exams. Gut punch #2. I knew something bad was coming. My husband and I took Grady to Boston Children’s Hospital right from the ENT. I felt like we had to push to really get them to listen. Neuro came and did a consult. Grady’s so strong. A crazy NATURAL athlete. How could it be his brain? Physically he checked out perfect. Then, the doctor asked, “What is 3×4…” Grady said, “Football”. Now we were crying. Something was really wrong. 

They came back and said they felt he was fine to go home, and out came Mama Bear. We told them we did not feel comfortable bringing him home. Twice. We told them SOMETHING is wrong with our son. I begged to scan him then. Sobbing. They felt a scan could wait and would book it in the weeks to come. 

So we went home. Sick to our stomachs. 

The next morning I woke up, called the pediatrician, and told them that I was bringing Grady back to Children’s and I wasn’t leaving until they scanned him. Long story short, a few frustrating hours later, they did. Gut punch #3…….and the death of the “old me”

They told us that they believe that Grady had ALD. What the hell is ALD?!? I Googled it, alone in the “quiet room” after an ER doctor told me not to. Google was obviously lying because there was no WAY my football and basketball obsessed boy was going to die in 1-5 years — slowly deteriorating to vegetive state, to death. No way. Someone was was wrong, and they wanted me to call my husband and tell him this?? Part of me died then. 

We lived 5 days — well not lived, we walked around somehow and tried to take care of the kids, while in the back of our minds we were thinking about losing our son. Then, we met Dr Eichler and Catie Becker. Two angles who told us that we would not lose Grady. With a Loes score of 10, they felt that perhaps Grady might lose some hearing, some vision, he might have a change in his gait. We could handle anything as long as he was with us. With newfound strength we got ready to fight. 

We met angel #3 a short time after — Dr Christine Duncan at Dana Farber. Grady ended up with an amazing 10/10 unrelated bone marrow match right away. Grady’s brother Colin tested negative for ALD and everything went just so fast from there. 

Admitted to the hospital on 9/11/18 and met what came to be some new “family” members (his loving nurses) and chemo started the next day. Grady was a rockstar. Me, not so much – I dubbed myself “the neurotic mom in room 613” . He was transplanted 9/20/18.  Celebrated his 8th birthday on 10/2/18 and also started engrafting that same day. We were home 10/11/18.

The fear really set in when we got past transplant, but there was still this ALD we had to process. Every little thing Grady did I was so scared…is this progression?  He blinked 3 times more than he did 5 min ago….is this progression? Every single day that kid was outside throwing the football. Making one handed catches. Working out to get his strength back. I still panicked over everything, even though I was told by his NP, “If he is out there making one handed catches, you have no right to worry about progression “. 

I still did.

We were also trying to come to terms with some signs of ALD that presented post transplant, like an Auditory Processing Disorder. Grady can hear us, but he stuggles to understand language. Luckily – that’s his ONLY deficit. He is a miracle boy!

Other than not really looking like Grady from all the prednisone and stupid hairy cyclosporine, he is still the same Grady, but he is angry.  So angry, and rightfully so. Some days are better than others, but he is here and doing amazing. 

Grady’s follow up MRI was also a miracle. Not only was there no progression, but his lesion has also gotten smaller. They are not sure why, and have only seen this once before, but smaller. Miracle. We also found out that I am not a carrier. Grady spontaneously mutated. More crazy to add to our story. 

We still have a long road ahead of us. We have had a couple readmissions that seem to come with the BMT world, but he is doing amazing. There is hope – so much hope.  

This disease is awful, but if he has to have it, I’m glad to have found the people I have in this ALD community. The Smiths might be one small family, but we are joining the cause and going to help do big things!!!

#NBS #ALDawareness #toughtimesdontladttoughpeopledo #yougottabelieve 

💙

— Jillian

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Jillian is amazing. Without her determination to get answers, it would have taken weeks or months to get the proper diagnosis. If you have followed any THIS is ALD stories, you know how important an early diagnosis can be. I’m not actually sure of when (or if) Jillian sleeps, but Grady is one lucky kid to have her as a mom and the ALD community is lucky to have her on board. She’s only five months into this journey and already she’s determined to dive into sharing her family’s ALD story and raising awareness for our (not so rare — about 1/15,000) rare disease. Since she sent me this story, her family was on the news again. 

With the Super Bowl just days away, all you Patriots fans will love that Julian Edelman is a fan of Gradys — just like the rest of us!!

CLICK HERE

Jillian — Thank you for sharing your family’s story and we look forward to watching Grady’s progress as he moves on with his beautiful, sports-filled life.

Love, Jess

 

 

Coming Soon!

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Last week, I watched through our living room window as a man fought through the rain to dig a hole in our front lawn and place a sign. I knew it was coming, but it still took me by surprise. 

Coming Soon!

We moved into our home thirteen years ago and called it our “forever house”. We talked about how we would shine her up to match our dreams and enjoy our time there until we were ready for our golden years in Block Island or Florida. The kids were 7 and 5, and we imagined how they would learn to ride their bikes on Clinton Avenue and run through all the backyards with the neighborhood kids. Jack and Anna would go from elementary school, to middle school, to high school and finally off to college. It seemed so distant, but we pictured when our nest would become empty and we could periodically close up our home as we would travel the world, knowing that we’d always return to our beautiful center-hall colonial.

Thirteen years ago we didn’t know that within a year of moving in, Jack would start showing symptoms of a disease that would one day become a huge part of our family. We didn’t know that our future would be less about adventurous travel and more about doctoring and therapies. We didn’t know that one day, three stories of house would be more than our son would be able to manage.

So, we are selling our home before “forever”. We are selling because we are not living the life that we’d imagined thirteen years ago. We are not alone in selling our home. Many of our close friends are doing the same – escaping Essex County taxes or moving back to urban living or buying their dream homes in the country or on the beach. We, on the other hand, are looking to stay in the area, eager to find an easier home. One that is more Jack friendly – fewer stairs, open floor-plan. A house where JackO can roam free safely.

It’s not what we planned thirteen years ago and it’s a lot of work prepping to sell. There have been moments of panic/anxiety (and plenty of tears), but mostly we’re excited about this change. Our house is beautiful, but there are rooms we never use, but still heat and cool. There’s a lovely yard that is only used by our doggies. And, most of all we feel that the house is ready for her next family. It’s time to pass her on. 

Still . . .

Every time I look out the window and see that sign, I feel my stomach tighten and I think of letting go of our “forever house”. It goes on the market officially next Wednesday and then there will be a flurry of open houses. People coming through to see if it matches their dreams the way it did ours thirteen years ago. Fingers crossed that we sell quickly. I really don’t want to play the “make all the beds, vacuum the dog hair, and hide the diapers” game for too long. And, once we sell our beautiful house, we can find our next “forever home” where we will stay forever … or at least a few years.

Our realtor/friend asked us to write a note to perspective buyers. Let me know what you think.

Thirteen years ago we told our realtor that we wanted to find the “big sister” of our center hall colonial on Jefferson Avenue. Something a little grander, a little roomier. We fell in love with this house before walking in the front door. We’d lived in Maplewood for seven years and Clinton Avenue was one of our favorite streets. It’s quiet, but close enough to town that we’d never need to drive to the village or the train. It’s a street where our children could roam and ride their bikes down the hill without any risks except bumping into a friend. And, the front door, wide and stately, told us that this house was going to be the perfect fit for our family.

We’ve been here now for thirteen years and it’s time for our next adventure, but it’s going to be hard to say good-bye to 26 Clinton Avenue. She’s been good to us. She’s hosted family holidays so large that we’ve added one table after another – from the dining room, through the center hallway into the living room. She’s hosted many, many parties where we’ve used every pot on the pot rack and guests refused to leave the kitchen. And, I trust that neighbors will share the our deck and lower patio have hosted many an event that lasted way too late into the night (it’s a wonderful, understanding crew on Clinton Avenue).

We’ve raised our kids and added two dogs to the mix while we’ve lived at 26 Clinton Avenue, and the memories we are taking with us are plentiful. At 109-years-old, this house has a history and has taken care of many families. Our hope is that the next crew that calls her home will love her as much as we have. 

Love, The Torreys

Cross your fingers, light some candles, and send some good vibes!!

Love, Jess

THIS is LEUKODYSTROPHY #24 — Ethan

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For most people, Facebook is all about travel pictures, political comments and dog videos, but for me it’s largely about connecting with the ALD and other Leukodystrophy communities. Last weekend, I stumbled on a post from a mom that I wanted to share. Much of the focus on our diseases lately has about getting an early diagnosis and the newest treatment options. It’s important to remember that some of our families have been living with ALD and similar diseases for a long time. It’s not as thrilling as the new stories, but our boys are beautiful and important too.

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THIS is ALD (ish) #24 — Ethan

9 years ago, Ethan’s father and I were sitting in a neurologists office listening to a doctor tell us, “Your son was misdiagnosed with Cerebral Palsy. He actually has an unknown leukodystrophy – a very rare disease that is progressive”. 

I’ll never forget that day. The doctor had no bedside manner and told me not to Google the disease because awful things will happen to Ethan and then he will pass away. I left that appointment feeling helpless and hopeless. The doctor’s words played over and over again through my head as we drove home and I cried on the highway. I remember looking back at Ethan in his car seat all smiles and happy, not knowing he was very sick. 

For over a year, I let that doctor rule my thoughts “Ethan is dying  — the doctor basically said there is nothing we can do, “Don’t Google the disease”. I would have constant nightmares about Ethan’s funeral and wake up in a panic. I would check on him while he was sleeping to see if he was still breathing. 

A couple years later, we finally met Dr. Eichler (the director of the Leukodystrophy service at MassGeneral Hospital for Children) who has given us nothing but hope and a positive attitude. He genuinely loves Ethan and has never once said, “Awful things will happen to him.” Or, “He is going to die.”

What Dr. Eichler does tell us is, “Look how far he’s come” and, ”Yes this disease is progressive, but Ethan is a fighter”. Ever since meeting Dr. Eichler my outlook on Ethan’s disease has changed. When a doctor actually looks you in the eye, answers your questions, hugs your child, laughs with your child, checks in with you via text, email and phone calls, then you know you have the right doctor. 

Shame on the doctor who gave Ethan a death sentence and no hope! Guess what? I Googled his disease and ended up connecting with amazing families all over the world who share the same life we do. Connecting with other families has been a wonderful experience. Seeing all their pictures and how loved these boys are by their family and friends like Ethan, makes me so happy. And now Dr. Eichler introduced us to another amazing doctor, Dr. Rodan, who has helped give Ethan a better quality of life! I’m so happy these two doctors never gave up on Ethan and I’m so proud of my boy who continues to fight and has an incredible will to live. ❤️

A couple of days later, this mom wrote something else on Facebook that took my breath away . . .

Ethan ten years ago. Before wheelchairs, seizures, helmets, daily medications, and intrusive medical procedures. But some things haven’t changed: Ethan’s giggle, his funny jokes, his amazing personality, his hugs and kisses, his “I love you momma”, his ability to make any task fun, his will to defy the odds, his outlook on life, his ability to live in the moment. All the medical issues might be happening to Ethan, but he doesn’t let them define him or change him. Ethan is still Ethan, he’s my son, he’s my everything. Love you Super Mario boy!

— Jennifer

Thank you Jennifer for allowing me to share a little of Ethan’s story. Ethan is almost 13 now – such a handsome (almost) teenager!

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the future is bright(er)

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A few times a year I have the opportunity to spend a couple of days in a room full of people who know what the letters ALD stand for and what it means to live with them in your home. This week I attended the Aidan Jack Seeger Foundation – ALD Standards of Care meeting. It was exciting to hear about the continued progress being made with newborn screening and the latest treatment options for this next generation of ALD boys. There’s not anything that will benefit Jack, but I hope in a small way, our boy (and his story) is helping the progress move forward.

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I know it’s not for everyone to sign up for juggling their real-life responsibilities to attend conferences highlighting the worst part of their life, but I never regret attending these meetings. I’d be lying if I said I understand all the medical talk, but the connections I’ve made over the years have been invaluable. I still get a little star-struck when I meet people that I’ve been following for years, but I’m always pleasantly surprised by how welcoming everyone is. These conferences are filled with doctors, researchers, and ALD parents who have become hard-core ALD advocates (trust me – I’ve done nothing compared to these folks). Everyone is always willing to answer questions and share their experiences. And, now there’s a new generation of ALD families recently diagnosed through newborn screening – they are the strongest people I’ve ever met. I’m not sure I would have been ready to dive in 12 years ago. 12 years ago ALD was a different disease.

12 years ago, when we first heard the word Adrenoleukodystrophy, a diagnosis usually meant that your son was already symptomatic – often too far along to treat. Even when you were lucky enough to find doctors willing to move forward with treatment, the outcomes (if successful) often lead to a new life, full of challenges. And, when you looked for other families for support or guidance, our community was hard to find. It was pre-Facebook and all that Goggle could tell us was horrific statistics and old information. Today, the ALD community is strong and the future is bright(er) and I want our family to be part of the future. I’ll keep attending any ALD conference I can get to, put on my fancy name tag, and enjoy some time with our ALD family.

For more information about ALD, please check out the Aidan Jack Seeger Foundation and ALD Connect.

Love, Jess

THIS is ALD #23 — Mason

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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