Monthly Archives: January 2018

college memories

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On Sunday Anna went to New York City to meet up with some kids that are heading to Johns Hopkins in the Fall (they found each other on social media — kids these days…). She came home feeling like she had made some good connections. It warmed my heart thinking about her one day enjoying a reunion like Dan and I had this weekend.

Dan and I have a remarkable circle of friends from college (Goucher College and Johns Hopkins University), and we all make an effort to get together as often as possible. 50th birthday parties are the newest excuse to pretend that we’re still young and cool.

This weekend was another one of those parties and it was incredible. People came from all over the country to celebrate our dear friend Fuzzy (his parents insist his name is really Jeff, but I don’t believe them). It ended up being two days of constant festivities filled with live music, fattening food, wine, laughs and old friends from back in the day – before mortgages and diapers and other grown-up responsibilities.

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On Saturday afternoon, Jack joined us around the fire pit. We were all exchanging stories and drinking more wine than 50 year-olds should (FYI – I’m 48, but who’s counting). I looked over at Jack as he sat listening to all the inappropriate stories with a smile on his face. He loves being around the energy of these events. I felt so lucky to share Jack with our friends and to share our friends with our boy.

But, today I keep thinking about him sitting there.

I keep thinking about how middle-aged Anna will sit around a fire pit with old friends laughing about college shenanigans (and fascinating lectures – right, Anna?). Then, I think about Jack.

Jack’s life is wonderful and—trust me—he has plenty of friends. I walk into Horizon High School on any given day to find my son surrounded by people. It’s as if he is holding court, telling jokes — not bad for a boy who hasn’t spoken in ten years. His life is filled with people who love him and will be in his life forever, but it’s different. He won’t ever have a circle of friends from college who knew him when he was just starting his adult life. That’s where Jack should be now, but ALD stole college from him along with his speech. I wish so badly that he could be busy making his own ridiculous college memories, not sitting with his folks and their old friends talking about theirs.

I know it’s not terrible – just different. Sometimes different just hits me wrong and this is what I do. I share. Sharing helps me make sense of things so I can let them go.

I know I am still a little exhausted from a VERY long weekend and I’m already starting to freak out about Anna leaving the nest, but sometimes I really hate ALD. Tomorrow is a new day and I’ll be fine. Jack will give me one of his magic hugs and I’ll go back to just reliving the fun memories of the weekend and counting Weight Watchers points.

Love, Jess

 

 

THIS is ALD #11 — Marty

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I’m hoping that THIS is ALD is helping people better understand that Adrenoleukodystrophy doesn’t always follow the same path. There are several phenotypes of the disease – Jack’s form is childhood/cerebral ALD. There are also people with the same genetic mutation that are completely asymptomatic or develop adolescent ALD, just adrenal insufficiency, or AMN – a form that generally progresses more slowly than childhood ALD and effects adults.

I’ve wanted to share an AMN story to help show a different form of our disease. Thank you Marty for sharing your story with us.

THIS is ALD #11 — Marty

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My name is James Martin Luczak Jr. and I recently joined the fight for Adrenoleukodystrophy prescreening so nobody else needs to experience life the way I did.

I have AMN – that’s adult onset ALD. My symptoms started showing around age 25. First a struggle with urinary incontinence and then a limp – I started dragging my left leg. Suddenly, I couldn’t work an 8 hour day so I saw a chiropractor, and he said he couldn’t help. I saw a neurologist, and she took x-rays of my spine and sent me to a neurosurgeon. They saw a ruptured disc, so we fused them. Things only got worse after spending two weeks in a hospital bed and two more at home. Atrophy set in and physical therapy provided only a marginal improvement. I had left the hospital with crutches and continued to use them for over 10 years. Last year, I decided my hands and shoulders needed a break so I now use a wheelchair. From the waist down my legs are now useless. Lots of muscle spasms. Very painful and awkward. I’ve self-catheterized for almost 10 years. I had carpal tunnel surgery in both hands. I have a terrible memory and slow fragmented speech.

I’ve been struggling with these health issues for the last 20 years with no formal diagnose until recently. I was on what doctors refer to as a “diagnostic odyssey”. That odyssey was funded primarily by tax payers. 100k back surgery, multiple treatments, and visits to doctors and specialists. Treating symptoms instead of finding the root cause. Treating symptoms without the proper diagnosis can get very expensive. Conservatively speaking, My odyssey totaled over a half million dollars.

Today I’m 47. I got my diagnosis at age 44. What’s important to know is the way I was diagnosed. November 2014, my niece moved to NY in the 8th month of her pregnancy and gave birth to a baby girl. That baby was screened for and tested positive for ALD. A few months later, after reviewing a chart of symptoms, I noticed they mirrored mine and I became suspicious that I too had ALD. After testing, it was confirmed the following June.

Had my niece not moved to NY, I’d most likely live the rest of my life without knowing and continuing on an odyssey or even worse… Giving up. Having said that, I’m here today, more aware than I’ve ever been in my life. All because of people like Janis Sherwood with Fight ALD, Patti Chapman with The Myelin Project, and Elisa Seeger with Aidan’s Law. I must thank them because without them and their determination, me & my family would not know that there is a killer among us (that newborn screening test didn’t just expose my disease, but my mother, sister and niece all discovered they too have the mutation). And, when there’s a killer among you, you arm yourself. My ammunition in fighting ALD is knowledge. That’s what this fight is about. Knowledge.

— Marty

 

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Marty, Elisa Seeger and Janis Sherwood

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There’s a theme running through many of the THIS is ALD stories – newborn screening provides hope and knowledge and as Marty points out – SAVES MONEY. Unfortunately, when it comes to persuading states to add a disease to the newborn screening panel, it needs to be proved that not only will it improve the quality of life for patients and save lives, but that testing for the disease will be cheaper than NOT TESTING. Marty is proof of how expensive a “diagnostic odyssey” can be. Jack is proof of how expensive a late diagnose can me. Between his treatment, special schooling, Social Security, Medicaid, etc – Jack’s ALD has cost tax payers well over $2,000,000 to date.

Thank you Marty for sharing your story and for becoming an active participant in the fight to change the future of ALD. I look forward to meeting you in person and introducing you to Jack!

Love, Jess

 

 

 

 

 

 

 

 

two interesting/overwhelming/magical/intense days

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Last week I went to the Aidan Jack Seegar Foundation conference covering ALD Newborn Screening and Identifying ALD Standards of Care. I sat up straight and took copious notes for two days, but I’m having trouble making sense of the legal pad filled with my chicken scratch. Honestly, its ten years into our ALD journey and I still don’t fully understand all the ins and outs of our disease. What I do understand is that I enjoyed every second of being at the conference. Two days full of people who are fighting our disease — doctors, researchers, and parents — many of whom I’ve never met in person, but I’ve followed for years.

Since Smiles and Duct Tape was published, I’ve had the confidence to participate more in the ALD community. I’d always felt that I wasn’t doing anything important enough to justify attending these events. I thought I needed a medical degree or to have started a foundation or raised enough money to pay for new trials. It seems silly now – who is more connected to the disease then the families living with it in their home? And, having ALD families at these conferences is a reminder to all those doctors and researchers in the room WHY they are doing what they are doing.

Attending these events has also made me feel oddly powerful. Like I am taking some control away from the three letters that have defined our family for ten years. I’m now connected with people making change and hope to do my part to help the cause. I have a pile of people who I can contact right away if I have questions or concerns, meaning I no longer need to rely on Google being my primary source for information – this is a good rule for most things 😉

I am also grateful for all the ALD families I’ve gotten to meet in person thanks to attending these events. Our family is blessed with a huge circle of friends and family who are always there for us, but when I’m sharing a table with ALD people, it’s different. They understand in a way that non-ALD folks can’t.

We are connected as soon as we reach across the table and shake each others hand (in fact, it’s usually a sloppy, over-familiar hug because we are so excited to meet in person). We each have a story about when we first learned the word Adrenoleukodystrophy. We each have experienced needing to share information with extended family who is sometimes not completely willing to except the information. We have each wondered what will happen to our sons as the years march on. We’ve each poured through our family history looking for markers of the disease. We each find ourselves looking in the mirror and wondering what the disease will do to our own bodies. We all know what it’s like to get lost in the what-ifs. We all know how to fight our way out of the ALD hole in honor of our sons . . . or in memory of them.*

It was an intense two days, but it wasn’t all crying and feeling sorry for ourselves. There were some tears, but mostly it was two days of learning about the progress being made in diagnosing and treating ALD. Two days of learning things that may help people with ALD and of empowering each other to move forward and help the cause. I feel stronger than I’ve felt since Jack was diagnosed. Sharing Smiles and Duct Tape, THIS is ALD stories and going to these conferences — I’m educating myself, educating others, taking some power back, and making amazing friends along the way.

I am going to post more information about what I learned at the conference as soon as I can sort out my notes. Anna joined me on Friday and she can help me make sense of things  – thank goodness we have a science person in the family!!!

Promise – there is some signing and giving and maybe even marching to be done!

Love, Jess

*I focus on childhood/cerebral ALD, but ALD comes in a variety of phenotypes – Asymptomatic, Addison’s Disease, AMN. Look for upcoming THIS is ALD stories to learn more.

 

 

THIS is ALD #10 – The Waterman Boys

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I am heading to Brooklyn for a conference tomorrow  — ALD: Identifying Standards of Care. Looking through the agenda, I couldn’t help but get excited about once again meeting some of my heroes. Doctors, researchers, and parents who are actively making a difference in the future of ALD. For me, it’s like going to the Oscars, minus the gowns and red carpet.

Pouring through the list of speakers, I noticed a name that looked familiar. Then, I looked again at my computer. On my screen, right beside the agenda, was my next THIS is ALD story — The Waterman Boys.

Kelly Waterman is speaking tomorrow and she had just shared her family’s story with me. It’s an incredible story full of luck and love and the power of change.

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THIS is ALD #10 — The Waterman Boys

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My husband and I live in New Jersey but we both have both worked at an oncology hospital in Manhattan for many years.  I have done most of my own doctoring in New York City and I suppose for something as big as having a baby I just felt more comfortable having my children in NY.  

We were so excited when we got pregnant with our second son and that my pregnancy went so smoothly.  Our first son Jalen had been born two months prematurely four years ago and though he’s turned out wonderfully-the experience of having a preemie and the NICU was hard to forget.  Kylar was born ten months ago full term via c-section, was a beautiful baby boy and did so well we even went home one day early!

We had been home a week, had just settled in when we received a phone call from the pediatrician at 430pm on that Friday afternoon telling us that Kylar’s newborn screen had come back for something called ALD and that we needed to go get confirmation testing done to just make sure.  Our pediatrician wasn’t too sure even about the details of what we were discussing.  I quickly called genetics at Columbia and got us in for that coming Monday morning.

During that brutal weekend that felt like an eternity of googling and many many tears, I had been talking with my cousin who was a pediatrician herself in Massachusetts about what we had been told.  She then ended up discussing our situation with one of her nurse co-workers that Saturday who happened to have previously worked in clinic with Dr. Florian Eichler- an expert in the field for ALD.  She offered to put me in contact with him.  It ended up being such an amazing coincidence.

Dr. Eichler so generously spoke to me (remember this was a Saturday and I was a stranger who was half talking half crying the whole conversation) and discussed that we would need confirmation testing but that the test was good so to brace myself that my son did in fact have ALD.  He also discussed that if confirmed my then four-year-old son would need to be tested as well.

That Monday I decided that I was going to bring my four-year-old with us to that genetics appointment.  I knew that I was never going to survive waiting weeks to find out if not only the baby had this but him as well.  Thankfully they agreed to draw my older son’s blood also.

One week later it was confirmed that both Kylar and Jalen had ALD.  We were devastated.  I was already so upset that our sweet new baby likely had this but that not only had Jalen survived the preemie experience but now this.  I was grateful for the fact that I already had Dr. Eichler as a contact and we rushed Jalen to Boston where thankfully his MRI of his brain was normal.  

We also found out that Jalen my older son has Addison’s (the adrenal insufficiency that commonly occurs with ALD) and requires daily steroids as well as stress dosing and at four months that our sweet baby Kylar also already has impaired adrenal function however not to the extent of his brother yet.  

So as crazy as all this has been finding out when you have a brand new baby that both your children have a rare life threatening disease-it’s not been lost on us just how lucky we are that all the pieces to this puzzle have lined up just right to save our boys.  If we hadn’t had a second child or in NY we never would have known about either boy and certainly would have been much worse off.  ALD being on newborn screen in NY state wasn’t initiated until one year after Jalen was born so he had just missed or if they were born in our own state we reside in of NJ we wouldn’t have known either.  We also are so lucky that Jalen never went into an adrenal crisis as that can be life threatening as well.  

We try our best to live our lives full of love for our boys and ensure their happiness.  As a mom it’s hard not to always worry but we try to keep our focus on the positives and how if this had to happen just how lucky we are.

— Kelly

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Hope and knowledge should not be provided on a state by state basis. I’m thrilled for the Waterman family that they delivered their children in NY and have the knowledge they need to provide the best opportunities for their boys, BUT what about the boys born in another state?

If the Waterman boys had been born in NJ (which is not yet testing for ALD – hopefully by the end of 2018), the first time the Watermans would have heard the word Adrenoleukodystrophy would have been in the middle of a crisis – perhaps too late to do anything to help their beautiful boys.

More proof that Newborn Screening for ALD needs to happen everywhere! Wonder where the US is in the process of adding ALD to Newborn Screening?

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Thank you Kelly for sharing your family’s story and I look forward to meeting you tomorrow!!

Love, Jess

 

 

THIS is ALD #9 — Blake

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Last fall I went to an ALD symposium with several other families effected by our disease. Among the group was a couple, John and Kathy. I learned quickly that they had recently lost their son, Blake. I was shocked that just four months after losing their son, they had driven from their home in Tennessee to Atlanta to share their story. After spending two days with them, my shock turned to admiration for these strong, loving parents determined not to let their son die in vain. I reached out to Kathy as soon as I started the THIS is ALD project, hoping she’d be willing to share their story. She agreed instantly. The piece is upsetting, but beautifully written — as is Blake’s smile.

 

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THIS is ALD #9 — Blake

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Our son Blake, like many other ALD boys, made all of his milestones as a baby and was a typical boy who enjoyed living his life to the fullest. He played soccer until 5th grade and performed well in school. In middle school, he ran cross country, enjoyed riding his mountain bike, sang in a special chorus group called Encore, and was an honor student. He was elated to be invited into the Duke Tipster program and was asked to take the ACT in 7th grade. He loved school, especially history, reading, and politics. In the first grade, he could not understand why he had to wait until he was 18 to vote!  Blake, like other ALD boys, had a great and wicked sense of humor.  I sometimes wonder if God blesses our ALD boys with such a great sense of humor because he knows they will need it to endure the monster we call Adrenoleukodystrophy.

On a normal Friday morning in January, Blake awoke with a virus.  That afternoon, his temperature went from normal to 107 in a matter of minutes.  We rushed him to the ER at Children’s Hospital where they attributed the virus to Addison’s Disease and adrenal malfunction, a precursor to an ALD diagnosis.  Blake was sent for a CAT scan and evaluated by the neurologist on call who admitted Blake on her suspicion of ALD.  We thought she was crazy!  After all, we had a normal, happy, healthy, 14 year-old son.  Before he could be released on Sunday, he suffered a grand mal seizure.  Within twelve hours, an emergency MRI confirmed the Adrenoleukodystrophy diagnosis.

One week later, we were on our way to Amplatz Children’s Hospital at the University of Minnesota to see if Blake would qualify for a bone marrow transplant. Blake’s Loes score, to the shock of the doctors in Minneapolis, was a 13.5. They decided that he would qualify because he was such a “high functioning” ALD boy. They could not believe he was in Honors classes much less making As and Bs! Blake had his first stem cell transplant on March 21st, 2012. He did not engraft. We were heartbroken and terrified for our son.  The medical team decided that since he was doing so well that they could try another BMT. He was only the 5th of 45 boys who did not engraft to undergo a second BMT. This time, on June 13th, they used actual bone marrow from a donor in Germany, and he engrafted at 100%! We were over the moon! We had saved our son! He had beaten the odds! Little did we know, this would not be the case.

We came home on September 28, 2012. Blake was legally blind by December. He went back to school the following August to start his sophomore year after being homebound his entire freshman year. He had an aide that took him to each of his classes. While Blake struggled with processing and math, his school modified for him in those areas. He continued to score high on state exams and performed well in his classes. He graduated in May 2016 with dreams of going to college. He wanted to be a neuropsychologist and move back to Minneapolis to work with children, especially ALD boys, going through bone marrow transplants. Through his 4 years of high school, we kept those dreams alive for him! By October of 2015, Blake was wheelchair bound. In February of 2016, Blake had a seizure that would take his speech and ability to swallow. He had begun to have problems with both a few months prior. He was in the hospital from February 27 until March 11, unconscious for most of it.  At that point, Blake needed a g-tube. Blake would finish his senior year at home in a hospital bed, but he was able to graduate with his class which was so important to him! Despite all of this, we enrolled him in Philosophy at one of our local community colleges. We were bound and determined to keep his dreams alive! He attended class three days a week, unable to speak or swallow, wheelchair bound, and completely blind. Blake would never, ever, give up!

On the Tuesday before Thanksgiving 2016, Blake had an hour-long seizure on his left side.  After, (he continued to have small seizures occasionally from June 2013 until this one), he was permanently bedridden. The doctors in Knoxville and in Minnesota felt that Blake’s ALD was progressing too deeply in his brain to detect, for his MRIs showed very little or no change from time of transplant until March 2016. The doctors did not understand his continued decline as other ALD boys with far worse MRIs were still walking, talking, seeing, and speaking.

Our beautiful son earned his wings at home on June 1, 2017 at age 19. He is now free of the body that so utterly failed him. He can dance, sing, laugh, walk, and see again! Blake Edward Switow is our son, warrior, hero, and our Guardian Angel!

Always remember, laughter is good for the soul!

— Kathy

I’ve read over this piece a half dozen times, trying to figure out what to write as a follow-up. I’m having trouble finding the words through my tears. I connected right away with Kathy. She felt more like an old friend than an acquaintance at a conference. It’s heartbreaking to learn the details of their family’s journey with this disease. And, ALD didn’t just take their son, ALD was particularly wicked with their family.

Thank you Kathy for sharing your story. It’s important for people to understand that ALD doesn’t always start progressing at the same age and it doesn’t always follow the same path. I’m grateful for your honesty — you have a huge fan in NJ. If fact, after people read this, I’m guessing you have many!

Love, Jess

THIS is Alexander Disease (a cousin of ALD) #8 — Olivia Kay

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By now I hope you are starting to understand Adrenoleukodystrophy (ALD). If you know our family or have followed Smiles and Duct Tape for a while, you know what ALD looks like for Jack. THIS is ALD has hopefully helped you to better understand what the disease looks like for other patients. I have many more of those stories to share, but today I want to share a story about a little girl named Olivia Kay and a disease called Alexander Disease Leukodystrophy.

Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain and spinal cord by destroying the myelin sheath. There are dozens of Leukodystrophies (including ALD) and Alexander Disease is the most rare of the bunch.

Olivia Kay’s mother, Lisa, offered to write their family’s story and I was eager to share a story about another disease related to ALD. Meet Olivia Kay.

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THIS is ALD (actually, Alexander Disease) # 8 — Olivia Kay

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It was December 10, 2009 when I received a phone call from a doctor with the Cleveland Clinic. Did I know that morning that when I would wake that very day, it would become my daughter’s “day of diagnosis”? In the community of “parent’s raising special needs children”, it’s the day you treat like a holiday, but often not celebrated by any means. You never forget it and dread when it’s near. Like most parents, they remember that day just like any other parent never forgets the day their child first walked, or said their first word or peddled their first bicycle. It was the day that I was told my daughter would not live very long and she was going to die. Now I carry that day with me, for the rest of my life.

Olivia Kay was born with Alexander Disease Leukodsytrophy. Alexander Disease is the rarest form of more than 50 forms of Leukodystrophy. She was diagnosed with infantile onset, which means, between the ages of birth and 2 years of age. Diagnosis can only be verified through genetic testing. And sadly, there is no cure. Those who are affected by the disease appear healthy until the onset of symptoms. Olivia was very healthy and started having developmental issues and seizures at 10 months of age. This began our journey and the start of many hospitalizations and medical appointments.

There are three onsets – Infantile, Juvenile and Adult. Onset of the disease is due to the destruction of myelin in the brain caused by mutations in the GFAP (Glial Fibrillary Acidic Protein) gene.  This essential protein is responsible for providing strength to important cells.

Unlike other Leukodystrophies, Alexander Disease is not always hereditary. It is caused by a sporadic gene mutation within the GFAP gene, meaning the mutation occurs without being inherited from the parents.  There are some cases of Adult onset Alexander Disease where the disease has been found to be genetically inherited, however, this is rare.

With Alexander Disease, many children suffer from seizures along with many other symptoms. After learning of her diagnosis, the doctor told us to “treat the symptoms and find a support group”. I look back now and realize, that was absolutely of no help to me. Knowing that our daughter would never outlive us was heartbreaking; we lived in denial for quite awhile. Knowing how to navigate life moving forward, was scary and uncertain. And we would face this most likely alone.

As we walked this journey with our child, you quickly become not only the parent, but you become you the doctor, the nurse, the therapist and the advocate. As we struggled with some of the most emotional and heartbreaking decisions you will ever have to make for your child, we knew that what we were doing were the best decisions for Olivia’s quality of life. She endured many what I call “seasons” of the disease. From feeding difficulties, to gastronomy tube, sitting up in her wheelchair to bedridden, to respiratory challenges and ventilators and digestive and bowel regimes. Each time we entered a season, she tackled each one with bravery and strength.

Sadly, Olivia passed away on April 28, 2017 at the age of 8. I am so proud to have called Olivia, my daughter. She taught me more in my life that I will ever learn in a whole lifetime. Olivia changed lives in her community and impacted strangers who met her.

The most honoring thing that we can do as her parents now; carry her legacy on to further bring awareness to this disease, help support more children and families living with illness and share her story so that people can become more knowledgable about all Leukodystrophies.

— Lisa

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I had a hard time sorting through the photos that Lisa sent me. Tears flowed down my cheeks knowing what Olivia Kay’s small body suffered and what her family went through. She was such a beautiful girl with shinning light in her eyes. Lisa describes how her young daughter tackled each “season” of the disease with bravery and strength. A remarkable girl. A remarkable family.

Thank you Lisa.

Love, Jess

 

THIS is ALD #7 — Nicholas

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THIS is ALD is gaining some traction. Not just in the ALD world, but I’ve heard from many non-ALD folks that they are appreciating learning more about the disease. ALD can look very different person to person. Here’s a story about a boy named Nicholas. Another success story thanks to an early diagnosis.

THIS is ALD #7 — Nicholas

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Our 13-year-old son Nicholas is a thriving survivor of cerebral ALD. His story so far is one of the rare success stories of this devastating disease thanks to family history (which gave us the knowledge needed in order for him to be diagnosed at birth), the Lorenzo’s Oil study, early detection through brain MRI, and a bone marrow transplant (BMT).

My father died from complications of AMN (Adrenomyeloneuropathy is the adult onset version of ALD. It generally develops during the late twenties or early thirties and progresses more slowly) and I found out I was a carrier at age 15. We contacted Kennedy Kreiger Institute at Johns Hopkins (where my father’s neurologist Dr. Hugo Moser had been) to prepare for testing once I became pregnant many years later. My husband and I were devastated to get the results that our perfect little baby boy had ALD, he was only a week or so old when we received the news. It was one of the worst days of our lives. We enrolled him in the Lorenzo’s Oil study at 18-months-old (Lorenzo’s Oil is a combination of oils that is thought to limit the accumulation of very long chain fatty acids that build up in the brain in ALD patients. It can slow down the onset of the disease). He was raised on the strict low fat diet and daily intake of the oil in the hopes it would keep demyelination at bay. Nicholas also had yearly brain MRI’s and we made yearly trips to Baltimore for testing and follow ups with the specialists. Dr. Gerald Raymond kept a watchful eye on him for nearly ten years.

The Lorenzo’s Oil study ended when Nicholas was ten, and we were told that hopefully he had escaped the most devastating form of the disease. Within a year of stopping the oil, Dr. Raymond spotted a small lesion in Nicholas’s brain caused by ALD and our lives began to spiral. We knew this could be the beginning of the end and our only option would be a BMT. Nicholas was a perfect candidate for gene therapy with a Loes score of 1 (the 34-point scoring system used to describe the evolvement of ALD) and no other symptoms. So we waited and Nicholas underwent MRI’s every few months to monitor the lesion…we had time on our side due to very early detection and slow progression, but we felt like it was a ticking time bomb and it was the worst several months of our lives full of worry and the unknown. Life came to a halt in our minds and hearts, yet we had to carry on for our children’s sake. We were referred after six months to Dr. Wes Miller at the Univ. Of Minnesota Children’s Masonic Hospital for consultation.

Nicholas was now eleven and needed to know exactly what was going on. It was a horrible visit full of heart-wrenching details of what a bone marrow transplant involved and what we were facing if the gene therapy study wouldn’t reopen. Within a few months, we were told the study wasn’t reopening at that time, and our only option was a BMT. The time was now as Nicholas was still extremely healthy and strong and no outward signs of ALD. Despite the challenge of living away from home for four months and the harrowing medical treatment of completely wiping out our son’s immune system and replacing it with another, we now believe it was the best decision and that the Lorenzo’s Oil diet quite possibly helped delay any ALD progression until late in the critical childhood years. We had the challenge of no blood siblings (we have a beautiful adopted daughter), but were gifted with a perfect umbilical cord blood donor match that saved our son’s life. We couldn’t be more grateful for the ALD specialists and BMT team of doctors who did all they could to save our son’s life and halt his disease in its tracks (halted disease progression was already shown on the 30 day post BMT MRI).

Nicholas is one year out from transplant and healthy (with adrenal insufficiency) and active in athletics. We know he is a miracle kid and this is not the usual case by any means. Newborn screening must be passed in all states so that every ALD boy has a fighting chance. We also know and have seen the many risks of BMT, as we lost an ALD friend in MN to one of the many risks of transplant and have heard of so many others. Nicholas is a best case scenario, we are forever grateful for where he is now. We want to do all we can for other boys like him.

— Julie

(I added a few details for readers unfamiliar with ALD — Jess)

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It’s thrilling to read how well Nicholas is doing one year post transplant. Again, his family had the luxury (THIS SHOULD NOT BE A LUXURY) of knowing that he carried the ALD mutation. This knowledge allowed them to prepare and act — initially with Lorenzio’s Oil then with a BMT.

Since transplant, Nicholas has been busy running 5ks and has even finished his first triathlon. His family has also been actively raising money and awareness for ALD hosting a Run for ALD event this last November.

Thank you Julie for sharing Nicholas’s story.

 

Love, Jess

things come in threes – PLEASE!

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Things come in threes – I hope. The truth is that I’m not sure I can take a number four if it presents itself. You guys might find me roaming the streets of Maplewood, screaming obscenities.

I’ve said that I don’t believe in karma or fate or destiny, but I’m starting to believe in really bad luck. I might need to start carrying around a four-leaf clover or wearing a horseshoe around my neck.

2018 is not off to a good start.

1.) The stomach flu — It seems to still be lurking around the house, waiting for the next victim. And, apparently it doesn’t come with the whole “you develop an immunity to it” thing, because I had it twice. I’m all for losing weight quickly, but this is a little ridiculous.

2.) Burst pipe — Still not resolved. We were able to isolate the problem and I was proud of myself for being so calm and cool with the plumber, “Please, take care of any emergencies first.” NOW I wish that I hadn’t been so cool. It’s been over a week.

3.) No heat — We woke up this morning and it was freezing. Dan and I both fooled with the furnace, but it wasn’t budging. I called the oil company and then got to go through our morning routine wearing a coat, mittens, hat and Ugg boots. Thank goodness Jack has a sense of humor and loved watching his mama try to make breakfast with mittens on. Once he got on the bus and my distractions were gone, I had time to really freak out. I kept thinking about our pipes as I watched the thermostat lower. I had every faucet dripping and space heaters in the bathrooms. I called Dan at the office by mid-morning and started crying, “2018 must be cursed!”

Four hours after leaving a crazy message with the oil company (cool Jesse was long gone), my hero arrived and was able to fix the problem. We were out of oil — don’t laugh. The house is warming up, but it’s going to take a while before I warm up to this new year.

I realize that none of these things are tragedies — but come on!! I’m tired and have stuff to do.

Okay. I’m done complaining. I’ll slap a smile on my face and go out and face the day.

Love, Jess

 

 

 

THIS is ALD #6 — Donovan

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Another ALD story to share, and this one is a little different. This is a new story for ALD –hopefully the future of our disease. It’s a story about a boy, newborn screening, and a bright future. Meet Donovan.

THIS is ALD #6 — Donovan

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My son, Donovan, was born in Connecticut in 2016. When he was 3 weeks old, his pediatrician called and said he tested positive for a “metabolic disorder” on his newborn screen and needed further testing. She was purposely vague because she didn’t want me to Google the disorder until we had confirmed answers. It didn’t do much to keep me from worrying, though. She mentioned that if it was confirmed, my 3 daughter’s would need to be tested as well. Without much information, I was scared for my son’s life, and the health of my daughters. 

The tests came back positive, Donovan had ALD. Don’s pediatrician continued to be vague, and I understand why. She wasn’t an expert on the disease, and didn’t want to give me any false information. My first question was “Is it life threatening?” All she could say was, “It can be.”

That’s when the Googling started. 

We met with a geneticist at Yale, who was the only expert in the state. The information she gave us was overwhelming, and tough to process. So many unknowns. When will it manifest? Will it ever? What type will he have? How severe will it be? There was no way to tell. My husband and I spent several nights cradling and weeping over our newborn son. So small and perfect. How could he have this monster inside of him?

After the diagnosis, I joined the ALD support group on Facebook and met some amazing and wonderful people. I was connected with lovely families here in CT, some who were also diagnosed through newborn screening! 

At 3 months, they tested Donovan’s blood to get an understanding of his adrenal function. At 6 months, he had his first MRI. I was terrified. I knew there wouldn’t be anything to see in his scans at this age, but they had to put him under so that he would be still, and that worried me a lot. He came through it like a champ, though. It didn’t seem to bother him at all! 

Donovan is unique. First of all, he did not inherit the gene from me. I am not a carrier, and no one in my family, or my other children, are at risk. Donovan’s gene spontaneously mutated while in the womb. This only happens in 5%-7% of ALD babies. Secondly, he is, what his geneticist called, a “mosaic.” This means some of his cells are mutated, but some are not. She seemed baffled by it. She didn’t know how or why it happened that way, or how that might affect his condition. If at all. More unknowns. So they treat him like any other ALD patient, and I am grateful.
 
Don is now over a year old. He will have yearly MRIs until he is 3, and the every 6 months. He will also have his adrenal levels tested every 6 months. So far, all his tests have been normal.

ALD has opened a whole new world to us. I’ve met people I never would have otherwise known. Strong, beautiful, inspiring families. Some of their stories are terribly tragic. My husband asks me why I read those stories if it makes me so sad, and I tell him, “Because they put their pain out there. I just want them to know someone is listening, and someone cares.”

I am not a perfectly patient person, not at all! But I do think I live a bit differently, now. I take more pictures and videos, I give more hugs and kisses, I say more “I love yous.”

Donovan is my 4th child, but my only son. His older sisters adore him! He is cuddly and happy. He is curious and likes to get his hands on everything! He has even started climbing, now! His sister, Josephine, is only one year older than him and they are best friends. They do everything together and always want to be with one anther. My older 2, Mika and Ripley, help change diapers, teach, and play with him. 

None of our children know much about his ALD. My 9 year old has heard us use the term and noticed his many doctor appointments, and she just understands that he has something inside him that could one day make him very sick. So we have to keep an eye on him. We have settled into our “normal.” Life has gone on, and I couldn’t be more grateful for that! For the chance for life to go on.

-Diana

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Diana and I met through the ALD Support group she mentioned and when she agreed to share Donovan’s story I was thrilled. It’s so important that people realize the advantages of newborn screening and an early diagnosis. Although the news must have been a huge slap to their family they are allowed to prepare and monitor.

The hope is that beautiful little Donovan will go on to have a perfectly normal life and ALD will stay dormant forever, but just in case, his family has a plan in place. It’s thrilling.

Diana told me that she wasn’t a writer, but I beg to argue. Her voice shines as a mother who loves her children and will do anything she needs to do to give them the best life possible. Thank you for sharing your story, Diana, and for helping people better understand our not-so-rare disease and the importance of newborn screening.

Love, Jess

 

 

 

 

happy new year!?!!!

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There is nothing like waking up New Year’s Day with a head full of fun, foggy memories, and feeling grateful for everything in your life – your family and friends being on the top of that list.

It was nearly 11:00 am before us Torreys were all up and ready(ish) to face the day. We had just a few goals for the first day of the year and we could do all of them in our pajamas – perfection. We needed to clean up the house from our New Year’s Eve festivities, take down the Christmas tree, and eat all the calories in our kitchen before New Year’s Resolution #1 could begin.

Everything was going according to plan until we heard Anna yell, “Mom, there’s water pouring out of the ceiling!”

Happy New Year!!?!

We’ve been through this before. Our second floor washing machine pipes are a little too close to the outside wall, and seem to enjoy finding the least opportune time to freeze and burst. We thought we had resolved the issue two years ago. We hadn’t.

I know our family has the reputation of being optimistic and flexible and calm and easy-going, but trust me, when there is water dripping from our ceiling, we are none of those things. “Fu#k” was the word of choice as we all ran around the house – water shut off, towels thrown all over the floor, large pots trying to catch the stream. Our plumber almost laughed when we called him, “Pipes are bursting all over town. No way I can see you any time soon.”

We called another plumber . . . and another. “Maybe by the end of the week.” was the best answer we got.

Fu#k!!!!

I was convinced that 2018 was going to unravel. That somehow what happened in the first day of the year would determine how the year would play out. Our house was going to fall apart, we would need to spend Anna’s college fund to pay for repairs, and we would never have access to clean clothes again.

It took a few hours, a lot of swearing and a good look at what we were dealing with before we calmed down. It wasn’t so bad. We had shut the water off before any real damage was done. The plumber will come by the end of the week and fix the issue and we have an old washing machine in the basement so we don’t need to be smelly.

By mid-afternoon New Year’s Day, our house was clean, the Christmas decorations were neatly stored in the basement and we were sitting in front of Netflix eating ridiculous amounts of lasagna, cookies, and peppermint bark (I hate whoever brought that into our house).

2018 wasn’t ruined.

I stopped believing in karma, destiny and fate years ago. How could I believe in such things? I’ve seen too much pain and suffering throw around great people to credit anything but chance.

Our pipe burst because it’s been super cold — bad luck. We were able to get the water shut off before the ceiling caved in — good luck! We had an awesome New Year’s Eve with a pile of festive friends — good luck! Jack and Anna are both healthy and doing great as we start the new year — good luck! One of our so-called friends brought not one, but two boxes of peppermint bark — bad luck.

It’s a new year. 365 days and some will be great, some crappy. My newest resolution is that I will take each day as it comes. I can’t promise there will be no cursing, but I think I can do this!

Wishing everyone a decent 2018 with more good days than bad!!!

Love, Jess

P.S. Peppermint Bark = 13 points on Weight Watchers;(