The Arizmendi Family
Evelyn & Owen, Krabbe Leukodystrophy
We have a long but beautiful story. All 3 of our children have been impacted by the terrible effects of Krabbe. Our journey begins with our oldest daughter, Evelyn. Born on her due date, via emergency C-Section on 9/6/14, she was a perfect, happy, chunky baby. Around 5 months old her smiles started fading away, she was constantly fussy and began missing milestones. She was then misdiagnosed with anything from colic to CP. She was enrolled in P.T. at almost a year old, it was then her therapist noticed Ev was having multiple seizures. After weeks of waiting on a neurologist and MRI appointment, we finally made it to Chicago for our long day of testing. We were not even out of the city when the Head of Neurology called and gave us the life-altering diagnosis. I will never forget sitting on the side of Chicago’s busiest highway staring at my perfect child, mourning the life I knew she wouldn’t have. She was “quoted” only a few more months to live due to the amount of damage already done and the progression into her brain stem. Despite being in and out of hospitals, Ev lived a full life! She traveled to NY, Hawaii, Disney Land, and even went down the Bourbon Trail! She loved “off-roading” in the Jeep with Daddy and was loved by all. But just 4 short months after her sister was born she lost her fight and went to live with Jesus on 4/16/18.
Molly was born 12/19/17 and we immediately knew she had to be tested. Unfortunately at the time Indiana did not have that test as part of the panel. Waiting on the results seemed like a lifetime. The first test came back inconclusive so it had to be redone. 6 weeks later we finally got our answer…Negative, but a carrier. Great news in the short term, but knowing how being a carrier will affect her own children broke my heart. A few short months later, we were surprised with Owen!
Owen from the start kept us on our toes. He came crashing into the world 6 weeks early on 5/3/19. He was whisked away to the NICU. At this point, Indiana passed the bill for the screening but it was not yet in the works yet so once again we had to beg for the test. 10 days later, I heard those terrible words…Positive. Within minutes the NICU doctor was on the phone with the transplant team at Lurie’s and less than an hour later he was on his way to Chicago. We met with the team the next day and everything was being planned at an accelerated pace. He began his Chemo while a donor was searched for. He received his new cells on June 5th one week before his due date. That was a Wednesday and by Sunday things took a nasty turn. A code was called and this tiny weak 6lb baby was being rushed away. Within the next weeks and months, things only seemed to be getting worse. He was on life support, 24-hour dialysis and in a medically induced coma. For months I sat by his side watching him suffer Respiratory, Heart, Kidney, and Liver failure praying some miracle would happen. 4 months later, out of what seemed like nowhere, he fought so hard and started to overcome. He was discharged a month later and we were finally able to bring him home for the first time on September 30th. Owen is now the happiest kid in the world! He is starting to hit milestones we never thought were possible. Every week he seems to surprise us with a new trick. It’s amazing looking back and seeing how this terrible disease has affected our family in such different ways. But knowing that God is in control helps ease the pain. We thank God every day for Ev and her life which ultimately saved her brother
The Arquiza Family
Carlben, Adrenoleukodystrophy (ALD)
The Bazar Family
Anniston, Krabbe Leukodystrophy
We are Corey and Reesa Bazar from Lafayette, Louisiana. We have been married 13 years and have 3 children. Levi is 9, Liam is 8, and our youngest daughter is Anniston who is forever five, but who would now 6 be years old.
In 2014, we were battling the simple joys of just trying to manage two toddlers and a newborn when Anniston began crying continuously. After a month of staying in the hospital, she was diagnosed with Krabbe at only 5.5 months old.
Our family found Dr. Escolar through googling and Anniston was seen by her around 7 months old, but at that time she was not a candidate for transplant.
Over the course of her five years, Anni was able to accomplish over one hundred different achievements. Some of the most memorable ones were visiting Niagara Falls, New York City, Washington D.C., Disney World, Sea World, the Great Smokey Mountains, and Legoland. She was able to attend prom, walk on homecoming court, be a cheerleader, ride in a person jet, participate in a dance recital, and start her own clothing store – Anniston’s Arrows. With the help of mom and dad, she was able to complete a 5K, 10K, 10-mile race, and even a triathlon. Two of her biggest accomplishments were attending Kindergarten and learning how to communicate with an eye gaze machine.
Anniston left an impact on this world by touching thousands who followed her Facebook page Always Anniston. Two of her biggest contributions was passing the Anniston Bazar Act which will screen newborns for Krabbe in the state of Louisiana. Our family is still fighting for Louisiana to implement testing. She also inspired one of her therapists to design and patent a medical seating device named Anni’s chair.
We are so thankful for Hunter’s Hope and all the families we have grown to know and love as part of our own. We may have not accomplished nearly as much with Anni had it not been for all of the love and support we received throughout the journey. We saw so many families present themselves with such grace and we aspired to be just like that.
The Blackwell Family
Ezra, Krabbe Leukodystrophy
Hello! We are Ryan, Karlita, and Ezra from St. Louis, Missouri. Ezra was born in October 2016 and was the first child to receive a positive newborn screening for Krabbe in the state of Missouri, about two weeks after his birth. After confirming he did indeed have the infantile form of the disease, we reached out to Hunter’s Hope following an overwhelming internet search and they connected us with lead expert Dr. Joanne Kurtzberg at Duke University Hospital that same night. Ezra received a cord blood transplant on November 17, 2016 and our family arrived back home in Missouri at the end of March 2017 after several months of monitoring and recovery.
Ezra is now four years old and will be going into his final year of preschool in the fall. He is a smart, extroverted and opinionated little boy. He will do almost anything for chicken nuggets (which comes in handy during his weekly therapies) and loves swimming, tigers, bubbles and making others laugh. Our family is passionate about spreading awareness about Krabbe Disease and the importance of newborn screening. Karlita is an active advocate and has participated as a guest speaker in several conferences and webinars sharing their story and advocating for nationwide newborn screening, in addition to co-authoring several literature pieces. Our prayer is to one day see every state consider each child’s life valuable and worthy of the option of transplant and/or treatment.
The Blanchard Family
Jordan and Joelle, Cerebrotendinous Xanthomatosis (CTX)
It was in June of 2014 when we noticed something very wrong with our then 7-year-old daughter, Joelle. Home from school for the summer, it had become obvious she had started delegating many tasks to her ten-year-old brother, Jordan. From self-care things like putting toothpaste on her toothbrush to opening and closing Ziploc bags, we saw her ask Jordan to do them for her. The morning we had her try to tie her own shoes (a milestone she’d reached in kindergarten) and realized she could no longer do it because of a significant tremor in her hands, we immediately made an appointment with her pediatrician.
That day marked the beginning of a year of intensive prayer and invasive testing while Joelle continued to lose abilities. Her coordination deteriorated, the tremor increased and she started experiencing cognitive decline. Our once shy, cautious, intelligent, daughter had become incredibly impulsive and struggled to recite her ABCs or count to 20. After being passed to two different neurologists, we finally landed with one who was willing to go the extra mile to figure out what was going on and after exhausting all available testing and several genetic panels, referred us to a geneticist.
In the fall of 2015, Joelle was diagnosed with Spinocerebellar Ataxia Type 8 through a genetic panel. This diagnosis was devastating and it took several weeks for us to recover from the news. By the time we returned to her neurologist though, we’d had time to process, pray, and research this diagnosis and had some serious reservations about accepting it because of the typical age of onset. Thankfully, her neurologist was willing to do some more digging for us. He made contact with a couple of specialists involved in the initial research of that type of disorder and they agreed we should continue to whole-exome sequencing, if only to rule out a contributing disorder that might have caused early onset.
In December of 2015, we got the phone call with Joelle’s results. She had tested positive for Cerebrotendinous Xanthomatosis (CTX), a type of Leukodystrophy. Since this disease has an available treatment, her two brothers needed to be tested. Two weeks later, we confirmed her older brother had CTX as well. In reading more about this disease, we realized that they had had symptoms since birth, but the early signs are very vague and slowly progressing. Chronic, unexplained diarrhea, speech delay, autistic-type behaviors, and learning disability do not necessarily raise any red flags for a serious disorder. It isn’t until patients have neurological decline or childhood bilateral cataracts that this disease is sometimes caught in time for treatment to be helpful.
So, we say we have “two of the few”. We have two of the approximately 75 patients in the United States that have a diagnosis and are receiving treatment. We are grateful. We know that there are many more children out there. Many of whom will have no idea what is wrong until this disease takes their life. Because of the nature of this disease, we believe newborn screening is the only way to find these kids in time for treatment that will drastically slow progression. We are so thankful for the opportunity to participate on the CTX committee as well as the LCN committee to try to help current patients that received a late diagnosis and advocate for newborn screening.
Jordan and Joelle will take medication three times a day for the rest of their lives. The damage that was done prior to diagnosis has not been reversed. But their progression has come to a standstill. We know how blessed we are in diagnosis and treatment and we thank God every day for their health and the privilege of helping others through the organization and support of Hunter’s Hope.
The Bourassa Family
Nicholas and Joshua, Krabbe Leukodystrophy
The Brackbill Family
Victoria, Krabbe Leukodystrophy
We are Brennan and Lesa Brackbill, and we live in Hershey, Pennsylvania with our three-year-old identical twin boys, Isaiah and Caleb. We will celebrate eleven years of marriage in November.
In December 2014 we found out that we were expecting our first child and we were so excited to finally become parents. Victoria (Tori) Ruth Brackbill was born on July 30, 2014 in Harrisburg, Pennsylvania and appeared to be perfectly healthy. She was such a delight and everyone loved her big eyes. We remember thinking that since we didn’t hear anything after her Newborn Screening that everything must be normal. Oh, how we wish that were the truth.
On January 7, 2015 (at five months) it was as though a switch had flipped and she became a totally different baby. We had no idea what was happening. Six weeks later, on February 13, 2015, she was diagnosed with Krabbe Leukodystrophy. Our lives changed forever.
It was determined the following week in Pittsburgh that she was not eligible for a transplant, so we made a decision to celebrate every day God would give us with her and to give her the best possible life we could. We created a “bucket list” and completed fifty different adventures that allowed us to create such incredible memories with her. We chose joy then – and now. We knew that God could choose to heal her on earth, but even if not, He would heal her in Heaven (and we would see her again) and that brought us peace.
On March 27, 2016 (Easter Sunday) she joined Jesus and was made whole again. Diagnosis day was the hardest day of our life; the day that she went to Heaven brought us peace.
Three weeks after Tori went to Heaven, Lesa began attending the Pennsylvania Newborn Screening Technical Advisory Board meetings and she helped to successfully enact legislation that made Krabbe part of Pennsylvania’s screening panel as of May 24, 2021!
Isaiah and Caleb joined our family in April 2018 and we are so blessed by them. They are Krabbe-free! We are so thankful that they will not have to worry about passing this terrible disease on to their children.
Lesa wrote a book about our experience with Tori and all that we learned about life, death, joy, Jesus, and eternity (Even So, Joy: Our Journey Through Heartbreak, Hope, and Triumph) and continues to blog at www.thebrackbills.com in hopes of encouraging people through the struggles of life. She also works to equip advocates through www.LDNBS.org.
We love Hunter’s Hope and are so grateful for all that they continue to do to support families!
The Broadbent Family
Emma, Chaserr lncRNA Leukoencephalopathy
We are Julia, Brian, Claire, and Emma and we live in Dallas, Texas. Our daughter’s story is about as rare as they come in the world of rare disease.
Emma was born in April 2016 and has had severe health problems from the day she was born. At 5 months, she was identified as having some type of hypomyelinating leukodystrophy and that began our diagnostic journey. After a year of visiting CHOP and all the genetic and metabolic testing available under private insurance, we had nothing close to a diagnosis. We were encouraged to seek whole genome sequencing to find an answer. That ultimately led us to participate in both the Undiagnosed Diseases Network (UDN) and the Rare Genomes Project at the Broad Institute of MIT & Harvard.
In December 2019, we finally got a diagnosis. Emma was diagnosed as having a deletion of a long-noncoding RNA (lncRNA) called Chaserr. Just a few months before, this gene was discovered by a team of researchers in Israel. Not only is Emma the first person in the world diagnosed with this mutation, but she is also the first human in the world to be diagnosed with any type of genetic disease caused by a lncRNA. There are approximately 50,000 different lncRNAs and we only know the function of a few hundred of them. Emma’s disease is ground zero for a whole new type of genetic disease.
Since that diagnosis, we have been working with a team of scientists around the world (from as far off as Russia) trying to better understand her disease including building out an IPSC cell line on her. We have been very thankful to have a team of doctors and scientists committed to finding answers for Emma and to better understand how lncRNAs work in human cells. We just learned of a second human case in France of the same Chaserr gene and hope to connect with that family very soon.
We are thankful to be part of the Hunter’s Hope family. While our genetic diagnosis is quite different, our health struggles are quite similar, and we look forward to connecting with other families. If anyone else remains undiagnosed, we encourage you to keep pushing forward because the answers are out there.Click here to read a Discover article about Emma...
The Brooks Family
Eden, Metachromatic Leukodystrophy (MLD)
The Brown Family
Eilish, Krabbe Leukodystrophy
We are Colin, Kirsten, Innes, Keir, Eilish, and Lara Brown. We live in a town called Leven on the east coast of Fife in Scotland.
On 16th November 2013, we thought our family was complete when Eilish arrived into the world to join her older brothers. In early 2014 Kirsten noticed Eilish was becoming more fussy during her feeds and being sick regularly. After a visit to our GP, we were given anti-reflux medication. This was nothing out of the ordinary for us as Keir had also had reflux but had grown out of it. In April 2014 Eilish was admitted to hospital and the doctor decided he wanted to do some tests. Eilish’s MRI had been reviewed by specialist consultants at the Royal Hospital for Sick Children in Edinburgh and they had spotted some abnormalities. They wanted her to come to Edinburgh for some further tests. Kirsten and Colin were upset and wondered why this had happened to their little girl.
When Kirsten typed some of the medical terms into Google she was directed to the Hunter’s Hope website. Colin still remembers Kirsten passing him her iPad and saying surely she does not have this awful “Krabbe Disease.” The website listed the symptoms and unfortunately Eilish ticked every box.
If it was Krabbe Disease – the words “There Is No Cure” featured prominently in all material.
We had the confirmed diagnosis of Krabbe Disease two days later (the day before Good Friday) Our Easter Sunday was spent visiting a Children’s Hospice.
We had several visits to the hospice over the summer of 2014 but Eilish’s final admission was on Monday 8th September and died peacefully in Kirsten’s arms with Colin holding her hand at 4.15pm on 9th September.
Colin is now a Trustee of the UK Krabbe Disease charity – Krabbe UK. He is also involved in MetabERN – the European Reference Network for Inherited Metabolic Disorders. Krabbe UK helps to raise awareness of Krabbe Disease in the UK and Europe and as a charity, we work to support families in the UK, Ireland, and Europe who are dealing with a diagnosis of Krabbe Disease. Krabbe UK has also partnered with Great Ormond Street Hospital in London to fund research in the UK in to Krabbe Disease.
The Cannon Family
Graham, Krabbe Leukodystrophy
The Caruso Family
Anthony, Krabbe Leukodystrophy
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. He suddenly stopped smiling and laughing and we thought that he may have not been feeling well. He started to cry inconsolably nonstop. The pediatrician set up a consultation with a team of neurologists who recommended that we bring Anthony to a larger hospital. He was diagnosed with Krabbe Disease.
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 Clarkson Family
Laylani, Krabbe Leukodystrophy
The Clausen Family
Bryce, Krabbe Leukodystrophy
We’re the Clausen Family, Joel, Andrea, Levi, and our sweet Angel Bryce.
We’re from Indianapolis, Indiana.
Bryce was diagnosed with Early Infantile Krabbe disease on Nov 1, 2018, at 9 months old. He went to heaven on April 5, 2019, on vacation, steps away from the beach crossing more experiences off his “Greatest Hits List.”
His Greatest Hit is being the inspiration for “Bryce’s Bill” adding Krabbe, Pompe Disease, and Hurler’s Syndrome to the Indiana Newborn Screening year. It was signed into law a week before Bryce passed away, and the state started testing babies on July 1, 2020.
The Conn Family
Jordyn, Alexander disease
Jordyn was diagnosed with Alexander disease on October 2, 2015. She began having tremors and losing skills in the spring of that year which prompted a visit to a neurologist. Jordyn maintained skills through extensive therapies including occupational, speech, and physical. She has since lost the ability to walk and has had a g-tube placed for 100% nutrition. She is in a natural history research study at Children’s Hospital of Philadelphia. Jordyn loves school and meeting new people. She is a social butterfly and is a very happy kid who loves life.
The Cross Family
Joshua and Laura, Krabbe Leukodystrophy
The Cushman Family
Collin, Krabbe Leukodystrophy
We are Kevin, Judy, Collin, and Kendra. Collin was born on December 19, 2010. He was a content baby reaching all his milestones. At 8.5 months Collin started regressing. We got the diagnosis of Krabbe Leukodystrophy when he was 13 months. Our life was a whirlwind in trying to find ways to help our son. He truly was our inspiration to keep fighting everyday. Collin lived 8 years and we were blessed to hold him in our arms that long. It has been 2.5 years since holding our boy, but you never forget the sweet innocence of a Krabbe child. Because of Collin we are advocating to get Wisconsin to screen all newborns, but it has been a slow process. Krabbe will forever be a part of our lives.
The Cygielnik/Markiewicz Family
Katie, Metachromatic Leukodystrophy (MLD)
The Deardurff Family
Leah, Aicardi-Goutieres Syndrome
The DeRossett Family
Tygh, Krabbe Leukodystrophy
Tygh DeRossett is 4 years old. Born in Kentucky. He was transplanted at 23 days old. He loves computers and anything technology.
The Estrada/Johnson Family
Ean, Aicardi-Goutieres Syndrome
The Feldt Family
Dawson, Krabbe Leukodystrophy
We are Alex and Kasey Feldt from Franklin, Virginia. We are high school sweethearts and we have been married for 3 years now. On July 16, 2019, Kasey gave birth to a perfect baby boy, Dawson Luke Feldt. After 4 months, we started seeing a decline in his head control and feeding abilities. We started testing at 5 months and on February 24, 2020 we got the devastating diagnosis of Early Infantile Krabbe Disease. After a trip to Pittsburgh to meet Dr. Escolar, she determined he was not eligible for transplant. We spent the next months loving him, taking plenty of pictures, and spending time in our pool. Dawson loved Mickey Mouse and Baby Shark. Since his diagnosis happened right before the COVID-19 shutdown, Kasey was able to work from home and take care of him everyday. After battling with Krabbe Disease for 8 months, he passed away peacefully on November 8, 2020. Even though we are devastated without him, we have peace in our hearts knowing that he is pain-free. Alex and Kasey are fighting for Newborn Screening in Virginia and Kasey is now on the board of directors for KrabbeConnect. Alex and Kasey have now started the IVF process to have a healthy and Krabbe-free baby.
The Gagliano/Canale Family
Rossana, Krabbe Leukodystrophy
The Galbreath Family
Jake, Unspecified Leukodystrophy
The Garcia Family
Jackson, Krabbe Leukodystrophy
The Glaudemans Family
Laura, Metachromatic Leukodystrophy (MLD)
We are Paul and Darlene Glaudemans from Baltimore, Maryland. We have been married for 37 years and have 3 children. Tim is 33 and married to Sarah and just had their first child last month, Laura is 30 and Emily is 29.
It was 2005 when Laura was in the 10th grade that she began to have intense anxiety about going to school. This was so unusual. Laura was a very good student, enrolled in honors classes, and really enjoyed school. She had also been involved in soccer, basketball, swim team, and water ballet over the years and was no longer interested in doing any sports either. I took her to her pediatrician and she was diagnosed with anxiety and depression, very common in teenage girls. She began taking some medication and doing some talk therapy. She ended up doing a Home and Hospital program for the majority of her school year. Once the school year was over she seemed much better. Laura returned to school for 11th and 12th grade and did beautifully. She applied to 6 colleges and was accepted to all of them. It looked like the worst was behind us.
In April of 2011, Laura fell twice for no apparent reason while taking a walk with me. She denied anything was wrong and refused to go to the hospital or see her doctor. My husband, Paul, creatively offered her $100 to go to the ER to get checked out. Laura cooperated with this plan and had a brain MRI. I will never forget what the doctor said to us, “It’s not good, your daughter has some kind of demyelinating disease.” We were then referred to a neurologist at Hopkins Hospital and then to a neurologist at Kennedy Krieger. Laura had a battery of tests and bloodwork done. On June 24th, we got the call from Dr. Wenger that Laura had Metachromatic Leukodystrophy. We later found out that Laura was a candidate for a bone marrow transplant. We prayed a lot to God for wisdom about whether Laura should have the transplant or not. We decided to take one baby step at a time and met with the transplant doctor at Hopkins and then all of us got tested. Our daughter, Emily was free of MLD and was a perfect tissue match! Emily was very willing to donate her bone marrow and so on September 16, 2011, Laura had her BMT!
We continue to take one day at a time and thank God for all of our many blessings. Our faith in God and his son, Jesus Christ, has been our anchor in the midst of many storms.
We are thankful for each of you and really miss giving you real hugs this year. Sending love and virtual hugs. ️
The Greene/Shell Family
Anthony and Dalton, Krabbe Leukodystrophy
The Grujicic Family
Nikola, Krabbe Leukodystrophy
The Hammond Family
Loie, Metachromatic Leukodystrophy (MLD)
Loie was born June 26th, 2010 to Matt and Lauren Hammond and big brother Owen. Loie was originally diagnosed with Spastic Diplegia, a form of Cerebral Palsy back in March 2012. Over the next several months Loie showed signs of regression: difficulty standing, sitting, loss of balance and coordination. We were concerned. Additional testing was conducted and on December 24th, 2012 she was given a more specific diagnosis of Late Infantile Metachromatic Leukodystrophy (MLD) which we were told was associated with a shortened life span. We spent the next 13 months researching MLD, working with Specialists and Therapists to provide Loie with the best possible care throughout her courageous battle with MLD. We spent time making every moment count and creating memories with our family. Loie lost her battle with MLD on January 27th, 2014 at the age of 3 ½.
Before Loie was diagnosed just a mere 7 ½ years ago, we knew nothing about Leukodystrophies, nor had we heard anything about them. We have learned so much over the past few years. When we were contacted to serve on LCN’s Steering Committee, we were honored. To be a part of something so special, to be involved in establishing goals for early detection, education, treatment, support of families is a way for Loie’s legacy to live on. It is a way for Loie to help children and their families improve the quality of their lives and one day, beat this disease. Everything we do is for our children, and in this instance, especially for Loie.
Just a few years ago, all the finest doctors in the world could do was tell devastated parents “it is too late.” But, now, there is hope. Creation of the Leukodystrophy Care Network, a network of Medical Centers dedicated to the care of children with Leukodystrophies, which are pushing the boundaries of research to fast-track enzyme and gene therapies that -we believe- will provide a cure in the next decade. We are also thankful for the opportunity to work with Providers and Government agencies to provide long-term family support and comprehensive care for children afflicted with this terrible disease. The future holds both hope and promise for those of us who have witnessed Leukodystrophy’s cruelty up close. So much has been accomplished in so little time, however, we are not done yet, and quite frankly, we have just begun!
The Hammonds Family
Liam, Krabbe Leukodystrophy
We are Scott and Terry Hammonds from the Chicagoland area. We just celebrated our 21st wedding anniversary this past July, 2020. 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 Herrera Family
Ashley, Unspecified Leukodystrophy
The Hindman Family
Naomi, Krabbe Leukodystrophy
The Huhn-Petersen Family
Jace, Krabbe Leukodystrophy
The Imran/Sanan Family
Muhammad, Canavan Disease
The Ip/Wong Family
Jolene & Jovian, Adrenoleukodystrophy(ALD)
The Johnson Family
Lucy, Krabbe Leukodystrophy
The Lebow Family
Mila, Krabbe Leukodystrophy
The Lebow Family- Wesley, Rachel, Kaine, and Mila. We are a Navy family currently living in Jacksonville, FL. Mila was diagnosed in August 2018 with Early Infantile Krabbe disease.
The Leeker Family
Trevor, Krabbe Leukodystrophy
We are Bill and Michelle Leeker from Wellsville, Kansas. We have been married for 28 years and have three amazing children. Zac is 26 (works for the health department) and just blessed us with a wonderful daughter-in-law Braxton last June (who is a nurse). Hope is 18 and just graduated from high school and will be heading to Wichita State University in the Fall, on their cheer squad, in the hopes to become a nurse. Trevor would have been 21 years old this year. He passed away of Krabbe Disease at 21 months. He was diagnosed at 10 months and we looked at the transplant and decided that it was not the best option for him at the point he was at. Michelle has been active on Kansas Newborn Screening Team since Trevor passed away and still fights today. She is still on the board and fights every year for it to be added to the panel in Kansas.
The Maguire Family
Robin, Krabbe Leukodystrophy
The Malfara Family
Morgan, Aicardi-Goutières Syndrome (AGS), a Leukodystrophy
Morgan’s birth (late 1997) itself was uneventful, and he was born perfect in every way that new parents believe their child to be perfect — 10 fingers and 10 toes, a perfectly formed tiny body, and announcing his arrival with a healthy wail! Although amniocentesis had told us that our unborn child was healthy, seeing him so apparently perfect was a great relief, and our joy was immeasurable.Click here to read more
The May Family
Dylan, Krabbe Leukodystrophy
We are Phil and Amy May. We have been married 28 years and we have 4 children. Jackson is 23, Conner is 20, Dylan is in heaven (and would be 17 in earthly years) and Sophie is 14. We had 3 wonderful boys, as of October 4, 2004, when our world came crashing down. That day, Dylan was diagnosed with Krabbe Disease, at 8 ½ months old.Click here to read more
The McAuliffe Family
Jack, Adrenoleukodystrophy (ALD)
The McCormick Family
Olivia, Krabbe Leukodystrophy
The McIntyre Family
Bethany, Metachromatic Leukodystrophy (MLD)
The Miles Family
Megan & Degan, Krabbe Leukodystrophy
The Miller Family
Jackson, Pelizaeus Merzbacher Disease (PMD)
Hello! We are the Miller Family from Maryland. Ben, Heather, Ava, and Jackson. Jackson’s Journey started at birth in 2012 and we saw the effects of PMD as soon as he was born. He spent quite some time in the NICU where he needed a tracheostomy and G-tube. He was able to overcome the odds and be decannulated after three and a half years. Jack had MAGEC rods placed in 2017 for scoliosis and they have been life-changing! Jackson LOVES Mickey Mouse and music, especially if you sing along! He adores his momma, daddy, sister, and extended family. Jackson loves being outside, swimming, being tickled and just plain being silly. Jackson can be stubborn and mischievous, but that makes us smile most of the time. We love Jackson’s smile, laugh, love for his family, and those baby blue eyes the most!
We have loved learning and following all of these special families and kiddos since our first symposium in 2017 and can’t wait to meet and learn more from all of their journeys.
The Morris Family
Zane, Pelizaeus-Merzbacher Disease
We are the Morris family. My name is Miranda, my husband’s name is Christian, and our wonderful son’s name is Zane. Zane has Pelizaeus-Merzbacher disease. We didn’t know anything was wrong until Zane started missing milestones. He started tube feeding when he was 5 months old and couldn’t roll over until he was a year old. We were in and out of the hospital to dozens of specialists trying to find out what was wrong. Zane was diagnosed when he was 7 months old and I found out I am a carrier of his disease. Zane is just about 7 years old, wheelchair bound, tube fed and nonverbal but doesn’t let his disability define him, his spirit lights up this world! He loves exploring and meeting new people. His favorite thing of all is swimming, it’s his own personal freedom:) We currently live in Fort Bragg, NC and will be moving to Fort Hood, Texas mid August.
The Morton Family
Ava, Metachromatic Leukodystrophy (MLD)
The Porceddu/McCourtney Family
Santiago, Aicardi-Goutieres Syndrome (AGS)/Metachromatic Leukodystrophy (MLD)
The Posey Family
Corion, Unspecified Leukodystrophy
The Rauner Family
Kevin, Adrenoleukodystrophy (ALD)
Paul, Adrenomyeloneuropathy (AMN)
The Rodriguez Family
Elmer, Krabbe Leukodystrophy
The Rojas Family
Brandon and Brian, Adrenoleukodystrophy (ALD)
The Rugari Family
Nicholas and Gina, Krabbe Leukodystrophy
Hi! I am Anne Rugari and I live on the west coast of Florida. I have three children, Phil, Nick and Gina. Phil is married and has a family of his own. I am very blessed with my only grandchild, PJ, who calls me “Mimi”. Nick and Gina were born with Krabbe disease. Nick was born in 1986 and passed away in 1987 at a year old. Gina was born in 1999, diagnosed as a newborn and underwent an umbilical cord blood transplant at just three weeks of age. Gina was the fourth newborn in the world to receive a transplant for Krabbe disease. She received her “new life” cells at just 5 weeks old and was one of the pioneers who set the course for future patients born with Krabbe disease to receive a “hopeful” treatment to stabilize disease progression.
Gina was transplanted by Dr. Joanne Kurtzberg and followed for her neurodevelopmental growth by Dr. Maria Escolar. Gina was Dr. Escolar’s first newborn Krabbe transplant. Both physicians are Krabbe disease experts and have been instrumental in the outcomes of many patients not only with Krabbe, but other leukodystrophies as well.
Gina’s life was full of promise and HOPE! She was a very happy girl whose smile would light up a room. She attended regular school through 9th grade and was on the honor roll. Her favorite subjects were science and art. Her dream was to go to college to be a doctor! Gina played wheelchair soccer, participated in school plays and chorus and was a Girl Scout for 10 years. She snow-skied, swam, went boating and traveled to many destinations in the United States. She even kept a journal on all of the places she wanted to visit in the world. Gina had a service dog named Bella Rina and was an aunt at the young age of 9 to PJ. They had many sleepovers together and snuggled on the couch with Bella Rina to watch fun TV shows.
Unfortunately Gina passed away at the age of 15 from peripheral nerve disease progression as a result of Krabbe disease. She left a legacy for researchers and clinicians that there is still more work to be done! Gina has been written up in many medical journals and publications teaching the world about her remarkable journey as a Krabbe disease pioneer.
As a parent for Phil, Nick, and Gina, I have been taught the value of unconditional love, gratitude and sincere appreciation for all individuals with and without special needs. My children have taught me how to survive in this world even after losing two of them to Krabbe disease. Each of my children have taught and provided me with unique abilities to make the world a better place filled with hope and promise.
As an advocate for Krabbe disease, I have founded Partners For Krabbe Research (P4KR), which funds brain and tissue research for Krabbe disease and other leukodystrophies; I have co-founded KrabbeConnect, a foundation that provides resources for Krabbe disease and bridges the gap between research and patient knowledge; I have authored the book titled: Just Like Me! A Girl With a Rare Disease; and am an Ambassador for the Rare Action Network (RAN) in the State of Florida, a program of the National Organization for Rare Disorders (NORD).
I have known my Hunter’s Hope family for 20 years. This will be my 19th symposium that I have attended. I have met wonderful families, children, and patients with all kinds of leukodystrophies. It has been an amazing journey of love and hope. I am truly grateful to Hunter’s Hope for all of the years that they have brought the families together. Their programs to create awareness about Krabbe disease have been outstanding.
The Schmiedel Family
Maddy, Unspecified Hypomyelinating Leukodystrophy
We are the Schmiedels from Texas. Maddy has an unspecified Hypomyelinating Leukodystrophy so our focus has been on diagnosis. We’ll get there. Maddy loves horses, Candy Crush, and Neil Young. We love Maddy, family walks, and belly laughs.
The Schmitt Family
We are the Schmitts from Buffalo, NY. Mike, Sheila and Steven. Our hero Jimmy went to heaven in 2013 at 23 years old after battling ALD and its complications for 15 years.
Jim was a happy, smart active 8 year old who loved baseball, swimming, puzzles, playing the piano and hanging out with his brother.
Small changes in his behavior began to concern us. Forgetfulness, frustration with schoolwork and a drop-off in athletic skills,
We consulted his pediatrician who initially didn’t think there was an issue, but agreed to a CAT Scan. Those results led to an immediate MRI which gave us the devastating diagnosis of ALD.
Within a few months after a neighborhood birthday/send-off party for Jim we were living at the Ronald McDonald House in Minneapolis awaiting a cord blood transplant. This was our only hope to stop the progression of this disease.
The transplant was successful as Jim was fully engrafted but the radiation that was given had caused the disease to progress at an alarming rate. The protocol has now been changed to prevent this from happening to other boys.
We were Mercy Flighted home only to be told that Jim had very limited time left. Jim didn’t agree with the prognosis. Even though he had lost the ability to walk, talk and move on his own he fought every day to live. Over the next 15 years, Jim was hospitalized over 40 times primarily for pneumonia and seizures. He was on a ventilator numerous times for over 40 days. In spite of all that he had the greatest laugh and smile. We miss him every day.
We are fortunate to live near Hunters Hope. We appreciate all the love and support the Kelly family and the Hunters Hope Staff have given us over the past 22 years. We enjoy volunteering at different events. Steven considers it an honor to be on the board of directors at Hunters Hope for the past 7 years.
The Sciera/Beutler Family
David, Alexander Disease
The Searle Family
Delilah Karen, Krabbe Leukodystrophy
The Seeger Family
Aidan, Adrenoleukodystrophy (ALD)
The Sereno Family
Hi. We are Carmelo (Mel) and Lina Sereno. We live in New Jersey with our two sons Salvatore (18) and Giovanni (12).
Our sons were diagnosed with Metachromatic Leukodystrophy Disease (MLD). Salvatore was first diagnosed in October of 2009.
We spent 8 days in Duke University in North Carolina to see if Salvatore was eligible for a Bone Marrow Transplant, and while we were there they tested Giovanni to see if he had this disease as well.
Once Giovanni received his diagnosis in November we packed our car and headed back down to Duke University. They received their transplants on January 5 and 6 of 2010. During this process, we lived in North Carolina for 350 days.
We spent so many months in the hospital with so many readmissions times two.
We have had so many bumps on our journey, but we keep on going. We obtain our strength from our sons. They really are tough boys.
Our life is not always easy, but the good days outweigh the bad days.
Our sons usually will have smiles on their faces which makes our hearts smile. We are blessed to have them and will never take that for granted.
This is our 9th Symposium and we look forward to it each year. This year will look so different but we will see everyone online.
The Shilling/Anderson Family
Matthew, Krabbe Leukodystrophy
The Shullanberger Family
Bryleigh, Metachromatic Leukodystrophy (MLD)Click here to learn more about the Shullanberger Family
The Smith Family
Lillian, Krabbe Leukodystrophy
Lily Smith was born a healthy, happy baby. We never suspected anything was wrong until about 5.5 months when we noticed she was no longer reaching for her toys, holding her head up and had become very stiff. We went to see her pediatrician and noticed that she had regressed in many milestones. They suggested she be seen by a developmental pediatrician. We attempted to make an appointment, but it was months out. The pitch of Lily’s cry changed and we got very scared so we took her to Children’s National Hospital ER at the advice of a nurse friend. We had a video showing what she had been able to do just weeks earlier. They took it all very seriously and rushed her in for a CT scan. I will never forget they said she had white matter in her brain. They wanted to keep her to have a sedated MRI the following morning. The next morning they took our sweet little 5 1/2-month-old baby to sedate her for an MRI. We waited nervously for the results. Ben and I were together in her room when a group of doctors approached the room and asked us a series of several questions. We were then told that our daughter had a disease and she would die by the age of two. They told us to take her home, take lots of pictures and to contact hospice as soon as possible.
Ben immediately started to research with a family member and together they were able to find a series of studies being done at UPMC in Pittsburgh. He immediately contacted the doctor’s office and let them know that our daughter had recently been diagnosed with Krabbe and is there any way that she could be seen. They contacted us immediately and asked that we please come to Pittsburgh Monday morning bright and early. We left our two small kids at home as we drove the five hours to Pittsburgh, worrying the entire way. Once we were in Pittsburgh they wanted to redo most of the tests that had been performed at Children’s National in DC. The doctor observed her movements and swallow and asked us lots of questions. At this time we had no hope other than keeping Lily as comfortable as possible for the duration of her life. It was with great surprise that they told us that Lily could be a candidate for a stem cell transplant. They said if we were going to even consider this stem cell transplant we would need to follow up with tests before we left to return to Maryland and we would need to be back no later than one week. It was with a lot of prayer that Ben and I came to the decision that we felt that we would like to transplant Lily. A week later I packed Lily and we said our goodbyes and headed to Pittsburgh for a long six-month journey. Lily underwent a stem cell transplant which was not easy but I’m happy to say Lily is about to turn nine in September.
The Smith Family
Grady, Adrenoleukodystrophy (ALD)
We are the Smiths from Salem NH.
Our Son Grady, now 10, was diagnosed with ALD in August of 2018 at the age of 7.
Grady received a Bone marrow transplant in September, just three weeks after his diagnosis. Thankfully Grady’s transplant was successful and he has not had any progression since. Though Grady does have a few deficits from ALD he is doing very well. He is still dealing with stubborn liver GVHD but being managed from home.
We are so very grateful for his amazing Donor and to Hunter’s Hope and the Kelly family for all their love and support.
The Spencer-Witczak Family
Kenan, Krabbe Leukodystrophy
A beautiful seven years: Kenan Spencer Witczak, early infantile Krabbe disease, February 5, 2011 – May 31, 2018.
The Stewart Family
Eric, Cerebrotendinous Xanthomatosis (CTX)
Eric has CTX, and I am Sue, his mother and legal guardian. Eric is severely affected by his CTX. He is non-verbal and functions more or less like a three-year-old with some skills that are higher than those of a three-year-old and some that are lower than those of a three-year-old. He is also considered to have autism and OCD.
Eric’s CTX wasn’t discovered until he was 16 even though he was showing signs of his diagnosis as early as two years old. That’s why a new-born screener for CTX is so important! When Eric was 16 he had a wheelchair for longer trips, and he couldn’t even put on his own shirt. Now, since starting on the Chenodal (CDCA), he can easily dress himself, and I have given away his wheelchair! Although Eric has made a number of improvements since being on the Chenodal, he remains a severely disabled individual. Eric is 30 years old and lives in a city near me.
After being separated by pandemic concerns, we are now able to see each other again since we are both fully vaccinated. We have returned to having fun with bowling, skee-ball, basketball, and eating Chinese fast food!
The Suhr Family
Darcee and Lindy, Metachromatic Leukodystrophy (MLD)
Our MLD journey started in 1995 when our daughter, Lindy, was finally diagnosed with Juvenile Metachromatic Leukodystrophy after a 6-year diagnostic odyssey. Lindy was 14 when diagnosed. We tested her two younger sisters and found that her middle sister, Jclynn, was not affected but her youngest sister Darcee, who was 10 at the time, also had MLD. Darcee qualified to undergo an experimental bone marrow transplant at the University of MN under the direction of Dr. William Krivit. Darcee’s sister Jclynn, then 12 years old, was the donor. Darcee’s transplant was considered a success as she engrafted and started producing the missing enzyme. However, Darcee passed away shortly after from graft vs. host. She put up a great fight but was home with Jesus for Christmas 1995 just two short months after her transplant and 4 months after our world flipped upside down learning that 2 of our 3 girls were affected with this rare disease.
Today, Lindy has outlived all the predictions of life expectancy and will celebrate her 40th birthday this September. She is in a wheelchair, has a g-tube, and suffers from breakthrough seizures but still smiles and enjoys interacting with people around her. Lindy loves to travel and won’t let MLD stop her! Jclynn is married, lives in FL, and has given us three grandchildren – a boy and two girls, who will never have to endure the MLD journey as Jc is free of the disease.
Shortly after Darcee’s death, with the help of Dr. Krivit, we started the MLD Foundation to help other families diagnosed with MLD, influence MLD research, and raise awareness and education about MLD. Today there are potential gene therapy and enzyme replacement treatments in clinical trials, advances in stem cell transplants, a newborn screening assay, and identified NBS pilot to start in New York as soon as COVID allows, and work has begun on an MLD RUSP application. Families diagnosed with MLD are supported and hopefully given a better future then when our children were diagnosed in 1995. God can turn bad things into good if we just have the faith to believe. We feel very blessed to still have Lindy with us and are excited to see what God has planned for the future!
Teryn, Lindy and Dean Suhr
The Suppan Family
David & Sean, Adrenoleukodystrophy (ALD)
The Taylor Family
Anna, Krabbe Leukodystrophy
Our daughter Anna was born, happy and healthy, on April 28, 2013. Her first few months were filled with the typical sleepless nights, marathon nursing sessions, and sweet little newborn smiles. It wasn’t until Anna was around 4.5 months of age that she became more irritable and then at 5 months started having difficulty eating and began to lose weight. After a GI doctor noticed Anna’s arms stiffening during an evaluation, (a sign of neurological involvement), we took her to the local children’s hospital for MRIs and CT scans to find the problem. We were very “fortunate” to learn within two weeks of tests that Anna had a Leukodystrophy called Krabbe Disease.
Soon after her diagnosis, Anna had a feeding tube placed and we learned quickly how to care for a medically fragile child. During her earthly life we tried to pack the most fun into Anna’s daily activities. Anna had adoring friends and family and therapists that kept her busy with adaptive toys, water therapy, concerts, drive-in movies, and so much more. Anna was able to go to a few amusement parks and visited 10 states! Anna was able to attend the 2014 Hunter’s Hope Symposium where she was able to interact with many other kids just like her.
One of the most important things Anna accomplished was the passing of the Anna Claire Taylor Law that mandated newborn screening for Krabbe Disease (and two other lysosomal storage disorders) for all babies born in Kentucky. Anna’s bill was signed into law by Kentucky’s governor with Anna by his side. Anna was taken to Heaven the next day, April 2, 2015. Knowing she is healed with Jesus and that her legacy with Kentucky’s newborn screening will continue is what comforts us the most in her absence.
We are thankful to be a part of the Hunter’s Hope family. There is no other group of families that understand more what life in the wake of Leukodystrophy is like and how to keep living in spite of it.
The Vipham Family
Ashton, Metachromatic Leukodystrophy (MLD)
The Wagner Family
Emily Rose, Hypomyelination of the Brainstem with Spinal cord involvement and Leg spasticity (HBSL), VACTERL Syndrome
The Wallace Family
Jackson, Krabbe Leukodystrophy
Jackson was a thriving baby boy for the first five months of his life. He was at the top of the charts in height and weight, hitting all of his developmental milestones on time or early, and was an all-around cheerful baby boy. At the five-month mark…Click here to read more
The Webb Family
Mabry Kate and Owen, Krabbe Leukodystrophy
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…Click here to read more
The White Family
Jackson, Krabbe Leukodystrophy
The Wilson Family
Marshall and Michael, Krabbe Leukodystrophy
We are the Wilsons from Oregon. David and I, Tammy, have been together for 21 years, married for 20. Our oldest is Melaney (20), Mason (18) Bryce (13) Angel Marshall (12), and Michael (10). 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 10 years old and lives a very normal life of a boy, KRABBE FREE.
The Winters Family
Aurelia, Aicardi-Goutieres Syndrome