The Abner Family
Chris, Kristal, Wyatt, Katelynn, Avalynn
We are the Abner’s a Marine Corps Veteran family. We started out in California at Camp Pendleton. When Chris retired we moved to Oklahoma. We have 3 kids, Wyatt 19, Avalynn 12 and Katelynn forever 5yrs 8months. Katelynn had MLD, she went to heaven 7/4/2014.
Click here to listen to Kristal and Wyatt's Podcast Episode
The Adkins Family
Kalista, Zachary, and Holtyn
Holtyn is 4 years old with a super rare genetic condition, called TBCD. TBCD is a type of leukodystophy. Holtyn is gtube fed, he is blind, he has epilepsy & he is nonmobile. The list truly goes on and on. Holtyn got diagnosed March 2023 & from that day forward I decided we will always include holtyn in everything & celebrate his life everyday.
The Andrade Family
Ramon, Zulia, Zoe, Joziah, Zuley
Zoe and Joziah were diagnosed with LaBrune Syndrome (LCC) in 2023. Zoe has been to hospitals and dealing more with her health, but overall, she has been great. They are receiving treatment from the best Neurologist and they are stable. They have two smaller siblings Zuley and Jayden who are carriers of the gene. They are really brave young teenagers, and they continued to walk in God’s hands.
The Arizmendi Family
Vince, Heather, Evelyn. Molly, and Owen
We are the Arizmendi Family from Merrillville, IN. Made up of Vince, Heather, Evelyn, Molly and Owen. Evelyn was born with Krabbe but did not receive her diagnosis until it was too late for a transplant. She lived a whole and beautiful 3.5 years. Molly came right before her sister passed in 2017 and is the world’s best middle sister. Owen rounded out our family in 2019 and was diagnosed with Krabbe as well. If it were not for his oldest sister, his life would not have been saved by a Stem Cell Transplant. Owen is 7 years old and is currently living his best life.
The Audet-Carlson Family
Matthew, Christina, and Zion
Hello all! Zion is 2 and a half! He is a spunky, outgoing, smiley toddler! Zion is the first baby in the state of Minnesota to test positive for Infantile Krabbe Disease. Newborn screening for Krabbe was implemented just one month before he was born. He had a Stem Cell Transplant at day 25 of life! & At 6 months old, he received Gene Therapy! He is the first baby with Infantile Krabbe Disease to receive Gene Therapy & is the first baby to receive the “triple dose.” Currently, Zion is thriving with PT/OT/Speech and uses a pediatric gate trainer to get around! Matthew, Zion & I are so blessed to be apart of such an amazing community!
The Barron-Austin Family
Carolyn, Christine, Alissa, and Elijah
My name is Carolyn Austin and I have two children with Krabbe. Alissa is 28 and had late onset and no transplant. Elijah is 26 and had a transplant in 2003. Alissa was missed diagnosed for 3 years before we found out is was Krabbe that’s how Elijah was diagnosed and was transplanted at 3 year’s old.
The Blackwell Family
Ryan, Karlita, Ezra, and Lyla
Hi, we’re the Blackwells! Ryan, Karlita, Ezra (almost 10) and Lyla (1). Ezra was the first child in our home state of Missouri to be diagnosed with Krabbe Disease via Newborn Screening. Shortly after his birth, our family traveled to North Carolina for him to receive a stem cell transplant at Duke University. We were there for six months while Ezra bravely went through treatment and recovery, showing his unwavering resilience. Ezra is now almost 10 years old and a bright light to all he meets. He loves going to school, cooking, animals, Halloween and playing with his baby sister. If you know Ezra, you know he is always smiling or laughing and loves life to the fullest.
The Blanchard Family
Tim, Bobbi, Jace, and Joelle
Joelle was diagnosed with Cerebrotendinous Xanthomatosis (CTX) in 2015 after a year and a half of testing and her older brother, Jordan, was diagnosed shortly after. We’re so very grateful that there is a treatment for CTX and they began that treatment shortly after diagnosis. Today, their progression has been dramatically slowed and are two happy young adults. Joelle isn’t able to travel and Jordan couldn’t come with us this year, but we’re so happy to join our Hunter’s Hope families and connect again this year. There is something special about getting to spend time with the family God chose for us in calling us to Leukodystrophy.
The Bonacorsa Family
Mike, Kelly, and Sofia
Sofia was born in Virginia, where she was unable to get newborn screening for Krabbe disease since the Commonwealth does not screen for Krabbe. The state’s newborn screening practices impacted a timely diagnosis, worsening Sofia’s symptoms. She was diagnosed at 6 months of age—a diagnosis that came too late for early treatment and intervention. Since then, Sofia’s parents advocate at both the federal and state level for her and their family, and for other children and families impacted by Krabbe disease and newborn screening access. Sofia’s mom Kelly says, “More children in the U.S. should not have to suffer and die to force change.” Sofia passed away on September 19, 2025 at the age of 4. She navigated life’s challenges with grace—a unique blend of both the bold and soft aspects of her. Though her time with us was brief, the depth of love and happiness Sofia shared will forever remain in our hearts.
The Bourassa Family
Nicholas, Rebecca, Nicholas, Joshua, Stanley, Matthew, Alyssa, and Delaney
Nicholas and Rebecca’s son Nicholas was born on March 18, 2002. Shortly after his birth, Nicholas was diagnosed with Krabbe disease. Nicholas went to heaven in February of 2003. On July 13, 2004, Nicholas and Rebecca welcomed son Joshua. Because of his big brother Nicholas, Joshua was able to receive a lifesaving transplant shortly after birth in August of 2004. On September 4, 2024, Joshua went to be with the Lord after 20 wonderful years of life. The Bourassa family lives in New Milford, PA.
Click here to listen to Rebecca's Podcast Episode
The Brooks Family
Beth, Eden, and Estela
We are the Brooks family from Daphne, Alabama. I am forever blessed by my two beautiful girls, Eden and Estela.
Click here to listen to Beth's Podcast Episode
The Brown Family
Jared, Miranda, and Penelope
Penelope was born a healthy, strong, and beautiful baby girl, meeting all her milestones as expected. However, around three months of age, we began noticing changes—she struggled with feeding, experienced increased reflux, and started missing developmental milestones. As time went on, she began to regress, and our concerns grew.
At four months old, Penelope was admitted to the hospital due to weight loss, where she spent 22 days undergoing tests and receiving care. An MRI revealed white matter abnormalities in her brain, leading to further genetic testing. Soon after, we received the heartbreaking diagnosis: Krabbe Disease, a rare and progressive neurological disorder that affects the nervous system.
Following her diagnosis, we made the difficult decision to transition home with hospice care, ensuring Penelope’s days are filled with love, comfort, and peace. Despite the challenges, Penelope is growing so big and strong and continues to show us her incredible spirit every day.
She absolutely loves cuddles with her mommy and daddy, soaking up every moment of warmth and love. Music brings her so much joy, and she enjoys being outside, feeling the breeze on her face. She makes the sweetest noises when she gets doggie kisses, and she treasures her independence—sitting by herself and watching her favorite movies.
Penelope’s strength and resilience inspire us daily. She is surrounded by endless love and unwavering support, and we are committed to giving her the best possible care while raising awareness and advocating for a cure.
The Campbell Family
Trisha, Colton
Our son Colton was diagnosed with MLD at roughly 2 1/2 years old and went to heaven Oct 29, 2021 at 6 years old. We traveled and did as much as we could with him to help bring as much joy, while giving him the best quality of life possible during this tough time. We will be keeping Colton’s light shining by establishing a foundation in his name as we are on a mission to help bless others that are facing the same difficult rare disease journey offering hope and support during their tough times.
The Carnahan Family
Alex, Michelle, Catherine, and Chris
We are the Carnahan family from Tucson, Arizona. I’m Alex, and my wife is Michelle. We have two amazing kids, Chris and Catherine. Chris has Infantile Krabbe disease.
He was born a healthy baby on January 12, 2024. His newborn screening came back with no genetic findings because Krabbe was not part of Arizona’s newborn screening at the time. At about three months old, Chris began to show signs of what we were told were delays, but these were actually the first symptoms of his Krabbe. Our daughter Catherine is speech delayed, and our pediatrician initially thought Chris was simply experiencing physical delays that he would catch up on. It took until April 10, 2025, for Chris to receive his diagnosis. By that time, he had been receiving weekly OT and PT and was still regressing. Chris had been seeing a neurologist monthly for six months before they finally identified the condition. They had never heard of it, which we have since learned is not uncommon. I will never forget his neurologist saying, “I can’t help you. You need to find someone who is an expert.” So that is what we did. We were connected to Dr. Rajan, who saw Chris virtually that weekend, and then we took him to the Family Registration University of Pittsburgh to see her in person on April 16, 2025. She confirmed the diagnosis of Infantile Krabbe disease and explained that Chris was likely not a candidate for a stem cell transplant, which was the only available treatment, because it must be done before the onset of symptoms to be effective. She still presented his case to the transplant committee. We held onto hope until April 21, when we received the call that his transplant request was denied. This confirmed that Chris’s Krabbe disease is terminal and would likely progress quickly. From that point on, our focus became keeping him as comfortable as possible and giving him the best life he can experience. But we have not given up hope. We continue to ensure Chris receives the best medical care possible and do everything we can to reduce risks that could worsen his condition. On July 8, 2025, Chris caught parainfluenza, which caused him to have his first seizure. He stopped breathing, resulting in a hypoxic injury. He spent 11 days in the PICU but made it through. Nearly all of the medical professionals, except for Dr. Rajan, told us that Chris would not recover and that his new baseline would be a state of unresponsive wakefulness. However, after about two weeks at home, he slowly began to interact more and became more aware of his environment. Over time, he continued to improve and is now back to smiling, laughing, and engaging with the world around him. Chris has overcome so much, and he still retains so much of what Krabbe takes, including his vision, hearing, and love for life. While we know we have been given more time with Chris than many families facing infantile Krabbe, we continue searching for treatments that could save our precious baby. He is such a happy boy despite everything he is going through.
The Caruso/Esquerdo Family
Grace, Anthony, Christine, and Anthony Peter
Anthony Peter Caruso was born on Thanksgiving Day, 11/28/1974. He was the perfect baby, always smiling, never fussy, and appeared completely normal. At 4 months old, Anthony was still not able to hold up his head.
Anthony was prescribed phenobarbital for seizures which kept him comfortable. There were no other options back then. Most children at that time were institutionalized and my greatest concern was not the prognosis but that I would not be able to keep him home. At 13 months old, Anthony was hospitalized with pneumonia and lost the ability to swallow. He was released from the hospital despite that fact and my protests. I spent hours feeding him liquids from an eyedropper. He was dehydrated and we rushed back to the hospital. He was readmitted and I was taught how to place an NG tube for feeding.
When Anthony was 20 months old he stopped breathing and was rushed to the hospital where he was placed on a ventilator. He eventually was removed from the ventilator but his disease had progressed and he passed peacefully in my arms while I sang to him on August 27, 1976.
The Castaneda Family
Tony, Anna, Gracelyn, Ezekiel, Jacob, Jeremiah, and Micah
Our Gracie—our sunshine girl—is the youngest of seven, the baby sister to one sister and six big brothers. At three years old, we noticed her foot turning inward. With our family’s history of Charcot Marie Tooth Disease (CMT), we thought perhaps it was just part of that story.
But as the days turned to years, we saw more: both feet turning inward, a tremor that made her hands shake, and cognitive delays that left us searching for answers. An MRI when she was six revealed white matter changes that no one wants to see. Genetic testing confirmed it: HSPD1-associated leukodystrophy, a name that felt too heavy for a little girl who loves giggles and sunshine.
Gracie’s diagnosis didn’t just change her story—it changed ours. We’ve learned to hold the tension between heartbreak and hope, to sit in the quiet and listen for the whispers of God’s goodness. Gracie is a teacher of grace, a mirror of resilience, a daily reminder that even in the darkest days, we are not alone.
She adores people, animals, and babies—her heart is big enough to hold them all. Every day we pray for a miracle. And every day we find small ones—her laughter, her curiosity, and the light she brings to every room she enters. She is our precious gift, our reminder that God is with us, even here, even now.
The Cushman Family
Kevin, Judy, Collin, & Kendra
Collin was 13 months old when we got the diagnosis of Krabbe. We were blessed to care for him for 8 years and 18 days. His legacy will live on in the state of Wisconsin as the Secretary of Health has signed the addition to the newborn screening panel. We are hopeful it will be added soon.
The Feldt Family
Kevin, Judy, Collin, & Kendra
Collin was 13 months old when we got the diagnosis of Krabbe. We were blessed to care for him for 8 years and 18 days. His legacy will live on in the state of Wisconsin as the Secretary of Health has signed the addition to the newborn screening panel. We are hopeful it will be added soon.
The Gargurevich Family
Silvia, Dusko, Isayas, Noah
Hello, we are Silvia and Dusko, parents of Isayas and Noah, and we would like to share our family’s story in the hope of connecting with others who understand the reality of living with a rare disease. Our son Isayas is 6 years old and is facing a battle that no child should ever have to endure.
The Glaudemans Family
Paul, Darlene, and Laura
Our daughter, Laura, was diagnosed with Metachromatic Leukodystrophy (MLD) in 2011 at the age of 21. Our family had genetic testing and our other daughter, Emily, was a perfect match! Laura had a bone marrow transplant at Hopkins in September 2011. She has been relatively stable and is currently 36 years old.
The Hammonds Family
Scott, Terry, and Liam
We are Scott and Terry Hammonds from the Chicagoland area. We just celebrated our 23rd wedding anniversary this past July, 2022. Our son Liam was born on September 4, 2000. The first child born to both of us. He passed all of our states Newborn Screening tests, he completed us as a family and we came home with dreams and ideas for our lives ahead of us.
From the day he came home from the hospital, now looking back, he had health issues. We were new to parenting so we followed the advice of his pediatrician that he may have colic or food allergies. We tried all the recommended treatments but nothing helped. He would arch his back and cry in pain during a diaper change. He would eat then mostly projectile vomit. He cried a lot. He was stiff in his muscles. By 4 months of age, he had fallen off the well-baby growth chart and family members were noticing that there was something wrong, so off for testing we went. Many months passed and test after test were performed to yield simple results like GERD. After an MRI, EKG, EEG, checking for cherry red spot behind his eyes, checking for pillories stenosis, doing a PH probe and spinal tap they could still only speak to us “in terms of risks”. There were no answers except that the spinal tap showed elevated protein levels and the acid reflux levels from the PH Probe were exceptionally high. The highest they had ever seen, one said. We were sent home with feeding tubes and a suction machine all before we knew what we were dealing with. Diagnosis came after yet another test, but this time a simple blood test. The results were that Liam had Krabbe Leukodystrophy. We were sent home with a letter stating the definition and condition of Krabbe, a DNR, and the words spoken “make him comfortable until he passes, you will probably never meet another family with Krabbe.” We went to the funeral home and made arrangements.
Ironically, from that moment on….we lived! We had our answer as to what was wrong with our baby and we chose to live. We believe that it took a geneticist coming into our hospital room to tell us that our son was dying, to really start LIVING!
We decided at that point that he had to know the world in which he was born into. He had to taste and touch and feel his world around him. We took him on vacation and to kindergarten. We made sure that between the feeding tubes, the suction machine and the oxygen tanks, he got the chance to experience the best parts of the world he lived in. The feel of grass, the touch of snow and the warmth of sunshine were just a few of his experiences. But more than any of these, he experienced LOVE! The three of us lived, we danced and we loved! On June 19, 2001 Liam earned his Angel Wings.
Our bitter sweet journey lead us to Hunters Hope. Without Hunters Hope we wouldn’t be where we are today with research to finding treatments and possibly one day, a cure. There would be no LCN Network. There would be no families coming together to help fight these diseases. There would be no extended family that we cherish every day. There would be no Newborn Screening. Thanks to Hunters Hope, the Leukodystrophy world has come a long way in the past 20 years, but there is still more to do.
We feel that no family should have to wait months for a diagnosis that can be done with a simple blood test at birth. All of our kids have a lot of living, experiencing and loving yet to do.
The Hoffman Family
Brett, Lex, Sam, and Liam
We are the Hoffman’s and we are from London Ohio. Liam was diagnosed with Hypomyelinating Leukodystrophy type 3 in February of 2023 at 6.5 weeks old. He is one of 2 kids that we know of with the AIMP1 gene mutation in the USA. Liam is currently 3 years old. He was put on hospice in August of 2024 and given less than a year to live. He continues to defy the odds!
The Kelly Family
Jim, Jill, Hunter, Erin, Parker, and Camryn
Hunter’s Hope was established in 1997 by Pro Football Hall of Fame Member and former Buffalo Bills Quarterback, Jim Kelly and his wife Jill, after their infant son, Hunter (2/14/97–8/5/05) was diagnosed with Krabbe Disease, an inherited fatal nervous system disease. When the Kellys welcomed their only son, Hunter, into the world on February 14, 1997 — Valentine’s Day and Jim’s birthday — they knew he was destined for something extraordinary.
Through Hunter’s life many lives have been touched with the Light of Hope. The Kelly’s greatest desire is to share the Hope that they have.
The Lavdas Family
Chris, Kayla, Parker, Hazel, and Zoey
With two beautiful children already, Chris and I wanted nothing more to have a fully blended family together. We tried for a while to get pregnant and were beyond excited when we got a positive test result. During pregnancy, I requested lab work to find out her gender. And discovered that I am a carrier of the vicious curse we know to be Krabbe Disease. All of the doctors reassured us that the chances of her being positive were incredibly slim. But alas, Zoey was born positive for Infantile. Things moved so quickly, there was barely time to process what was happening in front of us. We opted for a blood cord transplant since she was presymptomatic and because we wanted so desperately to change her fate in any way we could. After the most unpredictable rollercoaster of a health journey, Zoey fought for 7 months to come home to her family and experience all of the wonders of life with us. She has been home for over a year now, incredibly delayed in development from treatment; but truly to happiest little girl in the world. She is healthy, thriving and SO much to be grateful for.
The Leeker Family
Bill, Michelle, Zac, Braxton, Hope, and Trevor (and grandchildren)
We are the Leeker Family from Kansas. Our middle son Trevor passed away in 2001 from Krabbe Disease. Michelle has been working with Kansas Newborn Screening as part of the board since then to add Krabbe Disease. Our oldest son, Zac, decided to work for Kansas Newborn Screening after graduation and has helped Kansas add Krabbe Disease. Zac and Braxton (his wife) have blessed us with two grandchildren, Elyse and Trevor. Our youngest daughter, Hope has also chosen to enter the medical field. Hope and Colton (her husband) have also blessed us with a grandchild, Crew.
The Levasheff Family
Drake, Christina, Jessie, and Judson
We are the Levasheff Family—Drake, Christina, Judson, & Jessie. It is through the life of our beloved Jud that we are connected to all of you. Judson was a vibrant, healthy, bright two-year-old boy when his body suddenly began to deteriorate due to Krabbe Leukodystrophy. Within a matter of 5 months, Judson became completely blind, paralyzed and mute; he passed away on November 7, 2007, just before turning three. We currently reside in Orange County, CA but look forward to being reunited with our Jud Bud when we are finally home with our Lord for eternity.
Click here to listen to Christina's Podcast Episode
The Lippert Family
Colton, Karlee, Jolee, and Hadlee
We are Colton and Karlee Lippert and our two beautiful daughter daughters, Jolee (5) and Hadlee (3). We are from Des Moines, Iowa. Hadlee was diagnosed with Hypomyelinating Leukodystrophy type 3 (HLD 3) just before turning six months old.
The Malfara Family
Kristen and Morgan
Learn more about Kristen and Morgan’s story at the link below.
Click here to learn more
The May Family
Phil, Amy, Jackson, Conner, Maya, Waylon, Dylan, and Sophie
Learn more about the May family at the link below.
Click here to learn more
The Moore Family
Ferrell, Diana, and Regann
The Phillips Family
Darryl, Valerie, Abby, and Nick
We are the Phillips Family, Darryl, Valerie, Abby and Nick. Nick was diagnosed with adrenoleukodystrophy in January 2001 at the age of 6. We adore him and cared for him for the next 17 1/2 years with all the love in our hearts until he passed from our arms into the arms of our Saviour in September 2018 at the age of 23.
The Richter Family
Kent, Donna, Lisa, Kylee
Donna has CTX. All of the issues did not add up to a diagnosis until…… her neurologist could not figure it out but she said “I know a smart man at Shands Teaching Hospital in Gainesville. I will get you an appointment. We arrived a little before noon on Thanksgiving Eve, 1992. The location was called Diagnostic Physicians 2 in Shands. She was called back almost immediately and we left Shandsl at 6pm that Thanksgiving Eve with a diagnosis. Dr Kenneth Heilman said a test was needed to confirm but he was sure it was CTX. He also said “now we have to figure out how to treat it.” Donna is “alive and kickin”. Donna could be the oldest living with CTX in the world. All of this is a blessing from GOD. I am so happy God chose me to love her and take care of her.
The Rodriguez Family
Miguel, Casey, Maria, Diego, and Christy
We’re a close-knit family—Casey, Maria, Diego, and Miguel—navigating life with adult-onset MLD since Thanksgiving 2023, when Maria and Diego were diagnosed. Through all the heartbreak and challenges, we try to hold on to the beauty in everything—Maria’s smile, the things she can still do, and the moments we don’t take for granted. Diego has faced this journey with strength, even starting nursing school along the way. Miguel, my husband, has been our steady support through it all. We’re taking it one day at a time and are grateful to be part of this MLD community.
The Rojas Family
Paul, Liliana, Brandon, and Brian
Our journey started in 2014 when Brandon our oldest son was diagnosed with Adrenoleukodystrophy, right after we were given this diagnoses same year our little Brian was diagnosed with Adrenoleukodystrophy. We were devasted after receiving both diagnosis but we look and reached for God’s help… We were told about a new clinical trial available for Brian so we all moved to Boston to searched for treatment. Praise to GOD Brian had an amazing treatment transplant, there was no side effects since it was his own fixed bone marrow growing in his body until December of 2025. He sadly was diagnosed with MDS (pre leukemia cells) Thankfully doctors were able to see it right at the first stage so Brian received another transplants in March of 2026. Praise to GOD he is doing well. In addition Brandon has been recuperating from pneumonia since January 2026 and he is doing well.
The Rugari Family
Anne, Phil, Nicholas & Gina
I am the mother of three children, Phil, unaffected carrier, Nicholas, who was born on May 16, 1986, and went to heaven on May 19, 1987, due to Krabbe disease. My daughter, Gina, was born on December 23, 1999, and was also affected by Krabbe disease. Gina was diagnosed as a newborn because of her older brother, Nick. Gina received a cord blood transplant (CBT) in January 2000 at five weeks of age. She brought joy to all who knew her. Gina went to heaven on June 22, 2015. I currently live in Clearwater, Fla near my son, daughter in law and grandson, PJ. I’ve known Krabbe disease for 40 years and continue to advocate for families affected by Krabbe disease.
The Schmitt Family
Mike, Sheila, Steven, Vanessa, and Jimmy
Our son Jimmy was diagnosed with ALD at age 8 in 1998. He received a BMT in Minnesota in ’98. Unfortunately, the disease progressed. Jim was unable to walk, talk or move on his own after the transplant. He still had the greatest laugh and smile. He went to heaven on 07/03/13. We miss him every day. Hunter’s Hope has been a part of our journey since his diagnosis. We so appreciate being part of this wonderful family.
Click here to listen to Sheila's Podcast Episode
The Schnars Family
Justin, Delena, Trevor, Brendan, and Grandpa Ed
Trevor and Brendan, our identical twin boys, were born in July 2021 in Erie, PA. After their newborn screening showed they had Krabbe disease, we were told they might not live to see age 2, but today they are full of life and hope. Trevor is active and joyful—walking, running, climbing, jumping, laughing through songs, using his speech tablet, and slowly finding his voice with words like Mama, Dada, yes, and no. Brendan is smart, funny, and full of personality—running, climbing, learning letters, shapes, numbers, days of the week, animals, vehicles, and even quoting his favorite movies. Both boys love school, videos, music, and making everyone around them smile. Trevor and Brendan are a beautiful vision of hope for families affected by Krabbe disease.
The Schroeder Family
Amanda, Brooklynn, Tegan, and Blaine
Blaine was diagnosed with Krabbe Disease in 2014. He is not transplanted and he is a miraculous 13 years old! Blaine has an older sister Brooklynn, and younger sister, Tegan. Blaine lives his life to fullest and does everything that the family does.
The Seeger Family
Elisa, Aidan, and Sienna
Aidan was diagnosed with ALD at the age of 6 while he was in the latter part of hist first grade school year. Aidan was eligible for a bone marrow transplant and we moved our family down to Duke where he received his transplant. Aidan spent 7 months at Duke and then 3 months at NYU where he passed away on April 29, 2012. We started a foundation in Aidan’s honor in late 2012 with a focus on newborn screening. Aidan’s Law was signed on March 29, 2013 and testing for ALD began in NY on December 30, 2013. New York was the first state that tested every baby for ALD and as of today we are testing in 48 states. Our work has grown to help other rare conditions with newborn screening. We also host an annual meeting every March which brings together families, clinicians, newborn screening programs and industry.
The Sereno Family
Mel, Lina, Salvatore, and Giovanni
We are The Sereno Family Lina and Mel are happily married for over 26 years. We have two amazing sons Salvatore (23) and Giovanni (17). They are our world and light up up a dark room… Oh, they have Metachromatic Leukodystrophy Disease but that does not define who they are!
Click here to listen to Lina's Podcast Episode
The Shell-Greene Family
Jeff, Dianna, Anthony, Dalton, Dakota, Ashley, and Bentley
We are Jeff and Dianna Greene from Millers Creek, NC. We are the Greene/Shell family. We have been married for 22 years. We are a blended family with Jeff having two daughters from a previous marriage and me having 5 children from a previous marriage plus we have a daughter together. I am Mom to Jodi, Anthony, Joshua, Ashley, Dakota and Dalton and stepmom to Selina and Nicole.
In 1988 my first son, Anthony, was born completely healthy, at least that is what I thought. At three months old Anthony started having trouble with his formula and became extremely irritable. By four months old, he was getting worse and had started crying more like he was in pain. It took two more months of multiple doctors’ appointments and hospital visits with mainly colic and then possible Cerebral Palsy diagnosis for Anthony to get a definite diagnosis. We were devastated with the diagnosis of Krabbe Disease. We were educated as much as possible about Anthony’s condition and what to expect. We were told there were about eleven confirmed diagnosis of Krabbe Disease so we would probably never meet another family with this diagnosis.
On January 22, 1989, we celebrated Anthony’s first birthday. It was a beautiful day with family celebrating this day that we never knew for sure would come. My Heavenly Father gave us that day and I am so thankful. Just a couple weeks after Anthony’s birthday he developed his third bout of pneumonia. I never knew for sure, but I felt like Anthony was mostly blind. His tiny body was so weak. On February 21, 1989, Anthony was released into Heaven with our Heavenly Father. Our family spent several hours afterwards holding Anthony, crying, and loving him; each one saying their own goodbyes. I was forever changed but I tried to hide my grief because I had my daughter, Jodi who needed me to be her mom and take care of her.
As the next few years came and we had to learn to live life without Anthony, the sadness remained but joy also came. I somehow managed to live with both emotions. Soon came Joshua and then five years later came Ashley…neither of them having Krabbe Disease. In 1996 I found out I was pregnant again. Shortly afterwards I learned that I would be having twins. I reached out to our geneticist for any updates on treatment for Krabbe Disease to be told there were no beneficial treatments for infantile Krabbe Disease. We made the decision to test the twins when they were born and to just enjoy what I knew would be my last pregnancy. So that is what I did.
On October 3, 1996, I gave birth to my twins, Dakota and Dalton just five days before their due date. We followed up with our geneticist at two weeks and waited two more weeks for the test results. On October 31, 1996, we got that call again, you know, the one no parent would ever want to get. She said Dakota does not have Krabbe, but she is a carrier. Then she said Dalton has been confirmed to have Krabbe Disease. Again, we were told there was no new treatment, and they would help us to keep Dalton comfortable as he progresses in his disease. To say we were devastated is an understatement.
The World Wide Web was a new platform for information for some families via personal computers and was also available for public use in the library. We had many of our family and friends doing the latest research and found that there may be a treatment for Dalton by having a bone marrow transplant. Although there were no known successful transplants for the infantile form of Krabbe Disease, I reached out until I was able to find a doctor that would do the transplant. On December 4, 1996, at just two months and one day old, Dalton received a bone marrow transplant from his twin sister, Dakota at Duke University Medical Center by Dr. Joanne Kurtzberg. Dalton was her first patient with Krabbe Disease, but she had just given a transplant to a young man with ALD, so she was familiar with leukodystrophies.
Dalton had a successful treatment and through many years of research and complete studies, Dalton was with our family for twenty-one years, eight months and twenty-two days. Dalton was a very happy young man. He loved WWE and going to church. He especially loved his visits to New York where he got to see his extended leukodystrophy families. He loved his family so much and you could see that in everything he did. He even had a special friend, Scotty, that he enjoyed spending time with. He had a “girlfriend”, Britni, that he said he was going to marry someday. He graduated high school with honors in June 2015 and was crowned Homecoming King his senior year by his peers. Dalton made a difference in everyone’s life he came into. You would always find him smiling.
Dalton passed away on June 25, 2018 after 10 days in ICU due to a severe respiratory infection. Our family has been completely changed as Dalton had such a wonderful impact in our family. He taught us all so many things but mostly how to enjoy life to the fullest. We take it day by day (actually minute by minute) but we are moving forward and looking forward to the day we are all reunited as a complete family with Anthony and Dalton.
The Sheppard Family
Natalie and Remy
Remy was diagnosed at the age of two with multiple sulfatase deficiency. While it’s been a scary and difficult transition to find our new normal, we have been so lucky to find dozens of other families, amazing doctors, and a wonderful support network to help us find our way! Things have changed so fast, but what has remained the same is Remy‘s bright spirit and brighter smile!
The Shilling/Anderson Family
Bill, Dawn, and Matthew/Taylor, Marissa, Audrey, & Callum
Matthew was diagnosed with Krabbe in 1990 and passed away in 2006 at the age of 18. Matthew lived a full life with many adventures. We didn’t let Krabbe get in our way of enjoying life.
The Shullanberger Family
Corbin, Kaprice, Brixton, and Bryleigh
Born November 1, 2010, Bryleigh Shullanberger was born a happy and healthy baby girl. Adored by her parents and her big brother, Brixton, she was known for her beauty, the big bows in her hair, and her love for Alvin and the Chipmunks!
The Smith Family
Kathleen, Eli, Emma Grace, Abby, and Lily
Lily was diagnosed with Krabbe at five and half months and was transplanted at six months at University of Pittsburgh Children’s Hospital. Lily is now 14 1/2 years old. We fought for many years to have Krabbe added to newborn screening in the state of Maryland and we are proud to say that as of July 2025, Maryland is now testing. Thank you Hunters Hope for all the support over the many You want a different shirtyears.
The Stocki/Beutler Family
Marc, Melissa, and David
My son was diagnosed with Alexander Disease at 9 years old after months of extensive testing, specialist appointments, and uncertainty as doctors worked to determine the cause of his symptoms. The diagnostic journey was long and emotionally difficult, requiring numerous evaluations before we finally received answers. Since his diagnosis, we have witnessed the progression of this rare neurological disease over the past nine years. Now 18, he continues to face the daily challenges associated with disease progression, while showing incredible strength and resilience throughout his journey.
The Tauscher Family
Ethan, Lindsey, Finley, and Norah
Hi, we are the Tauscher family: Ethan, Lindsey, Finley, and Norah. Norah was diagnosed with leukodystrophy in February 2024. In April 2024 we learned she has EPRS1 Related Leukodystrophy (HLD15) and is the only one in North America with her type and one of 10 in the world. Over the past 2 years we have been learning to cope with this diagnosis and figuring out what it means for Norah and our family.
The Trinidad Family
Wyatt, Katelynn, and Wade
Wyatt and I, married in 2022 and had our sweet boy Wade in 2024. We knew something was off the minute Wade was born, but he was officially diagnosed at 6 months. It’s been so much learning and soaking up all the memories we can. We let Wade take the lead and we adapt to what he needs!
The Ward Family
Daniel, Tina, Ashley, Larry, Jolene, and Gemma
Gemma was diagnosed with Krabbe at 6 months old. Her journey has been the most special to our family and we are blessed beyond measure by everything she has taught us about life and living! She will be 13 in September! We treat every day as if it were special because it is. However, Gemma also spends every day with everyone else in the family doing all normal things a family does; running errands, school programs, sports events, holiday outings, anything going on, Gemma is involved. She has also had so many unique experiences in her journey that we have all been able to share in as well. We are so thankful for every day we get to share.
The Webb Family
Kyle, Christin, Mabry Kate, Owen, & Sonnie
To tell the story of sweet Owen, we must first start with the story of his sister, Mabry Kate. Mabry Kate was born seemingly happy and healthy on March 13, 2014. She was cooing, smiling, and interacting like most babies do until she was almost three months of age. From our initial feeling that something wasn’t quite right until her diagnosis three months later, Mabry Kate suffered some brutal symptoms that didn’t seem to fit together.
Mabry Kate was diagnosed when we sought a second opinion. Within a few days of our visit, they called us with the most devastating news that would be any parent’s worst nightmare. Mabry Kate was diagnosed with Krabbe Leukodystrophy. We were told there was nothing we could do, and that she wouldn’t live beyond the age of 2. Even worse, we were told that if her disease had been diagnosed earlier, or had Krabbe been a part of Tennessee’s newborn screening panel, Mabry Kate could have received life-saving treatment through a stem cell transplant.
In the midst of our diagnostic quest for answers about Mabry Kate’s condition, we unexpectedly discovered we were pregnant again. Along with her diagnosis of Krabbe came our insight from the doctors that this was a genetic condition. We learned that any baby we ever conceive will have a 25% chance of inheriting Krabbe.
Long story short, three months to the day after getting Mabry’s diagnosis, our unborn baby was also diagnosed with Krabbe. We were devastated, but there was hope. Because of Mabry Kate, we knew to test this baby so that it may have a chance to receive the treatment Mabry was denied.
After nearly 11 months of battling this horrid disease, Mabry Kate received her heavenly healing, but she didn’t go without leaving her mark on the world in more ways than one. The impact she had within our community and beyond cannot be described without writing a book, but perhaps the most valuable impact she had was on that of her baby brother, Owen. Bringing awareness to this disease through her brave and selfless battle, she gave him a fighting chance against this disease.
Owen was born one month early on March 30, 2015 at Duke University Hospital, only one month and three weeks following Mabry Kate’s passing. He was born early as it is crucial that children affected by Krabbe receive their stem cell transplant before the onset of symptoms.
Under the care of Dr. Kurtzberg and her wonderful team, Owen underwent a series of tests to confirm diagnosis and to check if the disease had yet progressed. His doctors concluded that he was in a good place for treatment. Following the tests, Owen received high doses of chemotherapy followed by his transplant five days before his actual due date.
The following months were not easy, as Owen was facing some tough side effects resulting from chemotherapy. All the while, Owen was on the road to recovery. Every day he was discovering and doing new things instead of daily losing abilities.
In our 8 months living in Durham, NC, we never questioned the care in which Owen received while at Duke. The doctors, nurses, nurse practitioners, CNAs, therapists, social workers, and beyond worked together wonderfully and were nothing but great to our family, and most importantly Owen. They became family.
Unlike the hospital in our hometown, Owen’s care was coming from an expert in the world of Leukodystrophies. It was a breath of fresh air to have Dr. Kurtzberg caring for our child because not only had she heard of this disease (a rarity where we are from), but she knew what she was dealing with, how to treat it, and could tell us what to expect. In fact, she is the one who developed the treatment that Owen received. When seeking the best care, it doesn’t get much better than that.
We are so thankful and blessed that we chose Dr. Kurtzberg and her team at Duke University Hospital to provide Owen with his care. The difference in the life of Mabry Kate and Owen is like comparing night and day. While every day we wish Mabry Kate could have received the same treatment, we are so grateful for her and so proud of the fight she fought. We will never tell Owen’s story without telling hers. And we will never tell Owen’s story without mentioning the incredible team of medical professionals at Duke who all worked together to give Owen this chance. And we, of course, will never tell our story without giving every ounce of glory to God!
Owen is currently a very happy and healthy 11½ year old, exceeding all expectations, living life to the fullest, and defying all odds!
The Wilson Family
David, Tammy, Melaney, Mason, Bryce, Marshall, and Michael
We are the Wilsons from Oregon. David and I, Tammy, have been together for 26 years, married for 25. Our oldest is Melaney (25), Mason (23) Bryce (18) Angel Marshall (17), and Michael (15). Marshall was born a healthy normal baby. Just before his first birthday, Marshall began to show symptoms, a few months later, he was diagnosed with Krabbe Disease. Marshall’s prognosis was two years max. Gracefully, Marshall lived beyond his prognosis, earning his Angel Wings and FREE of Disease just a few months short of his seventh birthday. Marshall’s two-month old baby brother, Michael, was diagnosed with the same disease one month following Marshall’s diagnosis. At four months of age, Michael received a life-saving SCBT (Stem-Cell Cord Blood) transplant. Michael is now 12 years old and lives a very normal life of a boy, KRABBE FREE.