Category Archives: newborn screening

THIS is ALD #12 — Carter

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A year ago, on February 6, 2017, one boy lost his battle with ALD. Carter’s mom, Stacie, is amazing and shares his story with honesty and love.

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THIS is ALD #12 — Carter

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December 31, 2010 my youngest son was born. Carter Joseph, weighing in at 8 lb 1 oz and was 21 inches long, a healthy baby boy. Carter completed our family, he made us a party of four, and we couldn’t have been happier.

He met all his milestones, was thriving, just overall a very happy baby. Then the toddler years came, he was into everything, such a daredevil who was absolutely fearless. His personality was unlike any toddler his age, a typical boy with gorgeous blonde hair, big blue eyes that would cheer you up on your worst of days. That part of Carter never changed, but at age 4.5 things started to be different.

After many appointments with many doctors, Carter was diagnosed with ALD, “a too late” diagnosis left us with no options to save our baby, and for 14 months he battled this relentless disease. Month by month after diagnosis, Carter lost his abilities… sight, sound, speech, swallowing, walking, until he became 100% dependent on us, within 6 short months. ALD robbed Carter of everything.

It took a toll on all of us as we watched the boy who was scared of nothing, losing his biggest fight. Quickly after Carter’s diagnosis my whole family was tested, as ALD is a genetic disease… Carter was the only male affected, myself and my mother are the only women in the family and we are both carriers… while her VLCFA numbers were way higher than mine, it didn’t matter as I still passed it to Carter. My oldest son, Peyton (age 10) was not affected, and he very easily could have, as it’s a 50/50 chance each pregnancy. Scary odds, even scarier if you didn’t even know about ALD, yet were a carrier of such a deadly disease.

Knowledge is power, Newborn Screening is necessary — I’d give anything to know what I know now, and maybe, just maybe, I wouldn’t have had to watch my baby take his last breath at just 6 years old, and somehow continue living this life without him.

— Stacie (Carter’s mom)

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Unfortunately, Carter’s story is not uncommon for childhood/cerebral ALD. If you don’t know that the mutation is lurking, and are not looking for it, ALD is often diagnosed too late for any treatment. Families are faced with helplessly watching their child’s abilities be taken one by one, before they are completely robbed of everything.

Newborn screening would have given Carter’s family knowledge and power and hope.

Thank you Stacie for sharing Carter’s story with us.

 

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

 

 

 

 

 

 

 

 

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

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

 

 

 

 

THIS is ALD # 5 — Mason

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We are busy celebrating Anna’s big news and preparing for the HoliDAZE, but wanted to take some time to introduce you to another ALD champion, Mason.

I met Mason’s mother, Tina, this fall and she agreed to share a bit of their ALD story. Tina is a remarkable mother and, I’ve not met Mason in person, but I’ve fallen in love with his smile.

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THIS is ALD #5 — Mason

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        Mason was the best baby.  He developed all milestones at or before the age he should.  He was riding a bike without training wheels at 3.    We had no concerns with his development until second grade.  He had a hard time with multiple step directions and with math (common core).  He would have a concept and then it would be gone. He would bring his math papers home and I would erase them and give it to him to practice.  He didn’t remember ever seeing these papers. 
        Mason was diagnosed with Adrenoluekodystrophy (ALD) in April of 2016.  He was 8. We were told there was really nothing that could be done.  We have an awesome support system and everyone started researching and found the team in Minnesota (University of Minnesota Pediatric Blood and Marrow Transplant Program is a leading program for treating ALD) .  We made our first trip to Minnesota in May where they decided Mason was a candidate for a bone marrow transplant.  His Loes score (the scoring system to evaluate the evolvement of X-ALD) was on the high side, but Mason’s doctors said he was compensating very well with what the disease was doing to his brain.  They were hopeful.  We were so scared but this was the first time someone gave us hope. 
        Mason had his bone marrow transplant on July 11th, 2016.  We spent 30 days in the hospital and then we had to be in the area for 3 months (some hospitals release transplant patients to rehab centers/other local facilities once they have reached a certain milestone. In Mason’s case it was to a Ronald McDonald House near the hospital).  By this time, he lost a lot of vision, hearing and processing skills.  When we left the hospital, he was in a wheelchair and couldn’t see.  Even then he had goals…goal 1 was to get rid of his NJ tube (feeding tube) and goal 2 was to be home for his birthday. 
        They discharged us to go home on October 19th (his birthday is October 24th) and he was NJ tube free! 

        Mason is an incredible fighter.  He told a therapist when asked about how he felt about his vision loss that he’s not going to let it get him down.  That’s the kind of kid he is.  He is a very friendly guy and loves to tell jokes and make people laugh.  He does get frustrated with things he use to be able to do that he struggles with now, but he usually has a smile on his face. He is currently back in his school which he loves.  He kind of regressed a little with social skills since he couldn’t be around kids his age and was very scared around them.  Once he got back in school, he gained a lot of his confidence back.  He is learning Braille and the use of the white cane for mobility.  After stopping a few of his medicines, he got some of his vision back.  He can see and read but at a slower pace. We are so blessed, grateful and amazed by his progress.  We had no clue this disease even existed.  Awareness is so important.

(I’ve added a few details to explain terms that the non-ALD reader might not understand – Jess)

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Thank you Tina for sharing this piece. Mason’s story is similar to Jack’s in that there was not an early diagnosis. It’s important for everyone to remember how hard it is to diagnose ALD – why newborn screening is so vital to changing the future of this disease. Luckily, Mason had a successful transplant and is doing quite well. Life is complicated for him, but he seems to have the same great attitude and electric smile as JackO.

Love, Jess

 

THIS is ALD #4 – Jon

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“When you hear hoofbeats, think of horses not zebras”

It’s a quote by a professor at the University of Maryland School of Medicine in the 1940s. A reminder to his students that, when searching for a diagnosis, not to think of the obscure until you can rule out the likeliest possibilities. I will never forget hearing it for the first time when a pile of medical students came into Jack’s room at Columbia Presbyterian Morgan Stanleys Children’s Hospital ten years ago. One of the students tapped the young man next to him and whispered, “Dude – THIS is a zebra!”

If Jack is a zebra, then Jon is a unicorn, with purple and cyan stripes. I met him this fall at an ALD event and I kept finding myself staring at him across the table. He’s in his mid-twenties, has his degree from the Milwaukee School of Engineering, is a comedian, and has ALD.

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THIS is ALD #4 – Jon

        This posting on Smiles and Duct Tape might have a different tone than most personal ALD stories. First off, I was diagnosed with ALD at the age of 1 due to the late diagnosis of my brother at age 6. It’s a common story. One that many of us have heard before, but did you catch what was odd? Maybe you did? I did, mainly because I’m the one writing this. There it is again.

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        The story keeps going with a bone marrow transplant at the age of 6, still a pretty common age range for those who are familiar with ALD. The transplant was at Minnesota which is synonymous with ALD. I came home after the transplant, and lived a normal life. Give up yet? I, me, the one writing the article had the bone marrow transplant. After hearing everything that happens to some boys with this terrible disease, I sometimes forget just how amazing this, THIS, is.
        It may even come more to a surprise that the journey started in 1992, when I was born. ALD would hit the silver screen a few months later with the movie Lorenzo’s Oil. Six years later, and an incredibly experimental treatment lead and here we are. So this article will take a different turn than any other ALD article and I’ll share with you everything I’ve done since the transplant. Everything, that is now achievable, by any other boy who is prescreened.
        As far back as I can remember, I’ve always wanted to be an engineer. Love designing ideas in my Inventor’s Notebook and building with Legos. Even during my transplant I was building Lego kits that were 12 years old and up. I was 6 at the time. It kept me busy. Models surrounded my hospital and Ronald McDonald House rooms. The passion for engineering continued after the transplant, as I excelled in math and science classes. Getting straight A’s in grammar school while being active in Boy Scouts. Scouting let me explore many different subjects, experiences, and knowledge which I still used today. In High School, I enrolled in Honors Math and Science classes. Doing my best to continue my streak of mostly A’s with the occasional B. I had the opportunity to take a few AP classes and a college level chemistry course which helped ready me for college. Furthermore, after class, I joined the Theatre Club and found joy in performing and speaking on stage. Fell in love with it and did as many plays as I could. Boy Scouts became a large part of my High School career. I served on Summer Camp staff for 3 summers and came to earn my Eagle Scout. I was selected to be a part of the Order of the Arrow ( Boy Scouts National Honor Society). Eventually becoming the youth leader as Lodge Chief, giving service to all members in Waukesha County, WI.
        Before I even started High School, I knew I wanted to attend the Milwaukee School of Engineering. Everything in High School worked towards that goal, and my senior year, I received my acceptance letter, though I had a feeling I would. College was the best years of my life. I continued all my passions of math and science, except now it was set to 11. I kept up with theatre joining the MSOE Theatre Troupe. There I acted in 6 plays, and directed 2. But the best decision I made in college was joining Triangle Fraternity. It’ an engineering fraternity and I became best friends with all of them. I may have lost a brother, but gained 100s I know I can lean on. Still staying in touch with them and even helping me secure my after college job at Affiliated Engineering in Phoenix Arizona. Today, I design the HVAC systems for colleges campuses and health care facilities. It may not be the same as a doctor treated young boys with ALD, but the buildings I’m designing may someday find a cure for this disease. And I’m okay with that.

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I’ve read this piece a dozen times and each time I’m in awe of how little Jon references ALD. He’s just a kid who loved legos and the Boy Scouts and learning and building and theater, and friendships. ALD is part of Jon, but it’s way down on the list of things that define him.

Jon was a pioneer. Like the boys going though gene therapy now, in 1998 stem cell transplants for ALD were experimental. Jon’s family had already lost a son and chose to try something new to save Jon’s life. Not only did it work, but it worked before ALD took over. Honestly, meeting Jon you would not see any hints of our disease. It’s amazing. Inspiring. A little heartbreaking  — I can’t help but wonder about Jack and who he would have been had ALD not touched every single part of his life. It’s crazy how random this disease can be, BUT I’m thrilled that Jon has enjoyed such an incredible life and it’s just the beginning of his story!

Thank you Jon for sharing your ALD story. My dream is that, as the years and research move forward, your story will become the standard — boy gets diagnosed, boy gets treated, boy lives life.

Until then Jon — you are the ALD unicorn!

 

Love, Jess

 

newborn screening (can’t think of a clever title)

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This image was taken two years before we heard the word Adrenoleukodystophy.

Last week I had the pleasure of attending an ALD meeting. It was one of the most incredible days of my life. I’ve never been in a room full of people who understand our disease before. They all had stories. Many were parents who had lost their boys. Some, like me, have a son who has suffered and is living a complicated life (some lived through both). And, there were two young men who had been treated early – both in their twenties now and both doing well – exceptionally well. They sat across from me and I couldn’t stop watching them and smiling – they’re the future of our disease.

I hate ALD. I hate what it’s done to Jack. I hate what it’s done to our family. I hate that I open my Facebook feed some days and read about another boy suffering from this disease or losing his battle after fighting for years (or months). It’s brutal.

The only possibility of getting good outcome with ALD is an early diagnosis. Until recently, the only way to know that you carried the ALD mutation without displaying symptoms, was if you were “lucky” enough to have a family member diagnosed with the dreaded disease. In the case of the two young men I met last week, each had an older brother with ALD. Each of these young men had watched as their older brothers tackled the disease without any treatment. Both of their brothers died – their greatest legacy was saving their sibling.

I can’t really imagine what these families went through — caring for and then mourning one son as they moved forward with treating another. And these were early days. They were pioneers in the treatment that is now standard for ALD boys – stem cell transplant (and if you’ve been keeping up with the news about gene therapy, THAT might be changing). Because of their brothers, they were each diagnosed early and monitored yearly. As soon as there was one hint of the disease becoming active, they were treated. Transplants were a new way of treating the disease and their parents moved forward, taking advantage of the only hope possible.

Ten years ago we received Jack’s diagnosis. We had never heard the word Adrenoleukodystrophy before that day. We didn’t have the luxury of knowing and watching and preparing. We wasted time with misdiagnosis after misdiagnosis. We watched Jack lose abilities quickly, without knowing what was happening. Finally, just before Jack’s ninth birthday we were given the news and he had his transplant the following month. The transplant worked and it stopped the disease, but Jack’s life is forever tainted by ALD.

I’ve found it difficult being part of our community where Jack – with such a complicated life – is a “good outcome”. Most of the people I’ve come to know with ALD have suffered more, lost more, many have died.

Meeting Mitch and Jon – they said I could use their names – was incredible. Of corse there was a little voice inside me wishing that our family had had some warning. If we had known that the mutation was lurking in Jack’s DNA, we would have watched him through blood work and MRIs and he would have had a transplant a year or two earlier. It’s more than likely that he would be living a very typical life today had we known. He’d probably be in college now. Maybe he would have joined me last week and he would have hung out with Mitch and Jon sharing stories and laughs (FYI – all ALD boys seem to share an awesome sense of humor).

Why am I sharing this? Because there’s no reason for a late diagnosis. It’s possible today to test newborns by including ALD in the newborn screening that is already in place checking for other serious conditions. Several states have passed newborn screening for ALD and many are on their way. I encourage all of you to do your part to make this happen.

I’ve known that newborn screening for ALD had potential for saving lives and avoiding suffering, but meeting Mitch and Jon confirmed the success of early diagnosis and gave me hope that the future is bright for our ugly, wicked, crappy disease.

Love, Jess

 

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