2022 Symposium Family Directory

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.

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. Karlita is an active newborn screening and Krabbe awareness advocate and has participated as a guest speaker in several conference panels and webinars, in addition to co-authoring several literature pieces. Our family is passionate about sharing our story, with the hope that one day newborn screening for Krabbe is a routine and required test in each and every state.

Today, Ezra is a sociable, silly and curious almost six year old. He loves school and is excited to start kindergarten in the fall. Despite any challenges, everyone  who meet Ezra says he is the happiest little boy, and it’s true, he is rarely without a smile on his face. Ezra works hard in everything he does (especially if there is a reward…like donuts) and seldom complains. He loves the company of other kids, the beach, riding horses, any water related activity and will do almost anything for bacon. He is the light of our lives and each moment with him is a gift we cherish.

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.

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 Disease. 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 strengthened PA’s Newborn Screening program and also 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!

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.

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.

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 welcomed their son, Lukas Scott, named after his brother, on April 14, 2022. The Feldt Family is happy to announce that Lukas is completely Krabbe free.

She is 14 now and uses her new hot pink wheelchair to get around. She loves school, and making friends, anything Disney, and YouTube. We go to the LCN (Leukodystrophy Care Network) in Salt Lake City every 3-6 months where we see every -Ologist on Hailey’s team. We love how they all work together. We hope one day we will discover Hailey’s specific type of Leukodystrophy. Through these 10+ years we’ve done clinical trials and whole genome sequencing and have discovered that Hailey had 6 spontaneously mutated genes.

Hunter’s Hope has helped us in so many ways not only on the medical side of things but has helped us join a community of families that understands what we’re all going through or what we will go through. Can’t wait to be back to the symposium in person!

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.

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.

Our first child, Erik, was born on December 7, 1991. Our second child, Adam, was born on February 16, 1993. Both boys progressed normally until Adam was about 9 months old (Erik being a couple months shy of age 2 then). At that time Adam started to regress noticeably in his physical capabilities. Erik continued to progress normally. Adam’s doctor was not at first overly concerned. A family friend physician disagreed and got us in to see a child neurologist. After many tests Adam was diagnosed with Krabbe disease. We were told there were no treatments available for Adam. The onset of symptoms would lead to death in months. Our neurologist said Erik had almost
no chance of having Krabbe but he would be tested to make sure. His test showed he also had Krabbe.

BMT for Krabbe was experimental at that time. It just so happened that a University of MN physician was the one doing transplants for children affected by Krabbe (six up to that point) and we only lived 30 minutes away from the UofM hospital. In those early transplants results with small children were not encouraging. Because Erik was asymptomatic, the doctor agreed to try a bone marrow transplant on him; but only if he remained asymptomatic. We were told a BMT could save his life but his quality of life, especially physically, would very likely be severely diminished. Walking with the use of a walker was likely a best-case scenario. With the hope of desperate parents we decide to proceed. No suitable bone marrow donor was found for Erik. As a last chance, Erik joined an umbilical cord blood transplant clinical trial at the UofM hospital (another lucky occurrence) and became the 6th person to receive an unrelated cord blood transplant.

Erik’s transplant was an amazing success and blew past all expectations. Erik started kindergarten at the normal age, walking, running, and riding a bicycle like his peers, maybe just a little bit slower. Erik swam on his high school swim team, earned a college degree at St. Cloud State and as I write this (July 2022) is in Kathmandu Nepal (5th or 6th solo trip there) and was just married to his girlfriend, Krishma, and is working remotely for a small Minnesota startup company.

Adam survived 17 more months, passing away on Memorial Day in 1995. Our boys likely did not have the infantile form of Krabbe but rather a late onset form of the disease. In 1994 the
physicians involved in their cases from across the country were undecided on what exact form of the disease they had. We went on to have a third son, Nathan, who is a carrier for Krabbe. Sadly, my wife Kim, the mother of our boys passed away in 2015 from a reoccurrence of breast cancer which we thought she beat back in 2005.

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!

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.

Myles was given an MRI at 2 years of age on his brain, ears & spine. Beforehand he’d been diagnosed with global developmental delay and wasn’t hitting “crucial” milestones so as Microrary CMV virus and Fragile X genetic testing had came back clear they wanted to investigate further. Months felt like years but I finally received his MRI results; his spine and ears were clear but unfortunately several MRI findings were found; these consisted of: Hypomyelination at newborn stage, hypoplasia of the brain stem and the cerebellar vermis. As hypomyelination is a key finding for many leukodystrophy’s they knew what to do next, they performed singular leukodystrophy tests, these were for; PMD disease, TUB4A leukodystrophy and mitochondrial disease. I had to wait 6 months for these results, it felt like forever so I did my research whilst waiting. All these came back clear so they decided to run a LD panel. This consisted for genes like; RARS DARS POLR3 genes plus more. 8 months had gone by and I still hadn’t had any news; so I decided to reach out to the founder of 4H Leukodystrophy- Dr Nicole Wolf, to ask if she would kindly view his mri scan, as by this point I had a gut feeling he had indeed, 4H leukodystrophy. She was very prompt and as I suspected, confirmed he had 4H. The 3 gene changes in 4H are ; POLR3A POLR3B and POLR1C. She went as far as to say she thinks he has C or B mutation. Surprisingly weeks later the geneticist called me and confirmed he had 2 mutations in his POLR3B gene meaning he had 4H Leukodystrophy. One of the mutations they did not recognise so me and Myles father had to have testing. This resulted in both of us being carriers.

Myles was born with disabilities so the medical world of countless appointments was nothing new to me. He was born with severe bilateral hearing loss; aided in both ears by 4 weeks old and also born with left hip dysplasia undergoing several operations unfortunately those of which, failed. As he had gotten older more things were diagnosed like spasticity, clinodactyly of his pinky finger, an immune system deficiency called IGA deficiency and osteopenia of his left hip.

He has never gained the ability to bare his own weight and this makes him very different from any 4H patient as typically with leukodystrophy all skills are gained and then sadly, lost. He has had use of a standing frame since 1.5 years old and has been in several braces and hip harness’s throughout his life. Sadly he will not be given a Walker. The standing frame is primarily for his hip and to prevent this from getting any worse.

Despite all setbacks he is the happiest, cheerful most determined little boy you could meet, he wakes up from sleep smiling , he army crawls super fast and he is very cheeky.

4H has caused a lot of things for myles, he is now under investigation for optic atrophy and he has 14 missing abnormally shaped teeth affecting his chewing speech and tongue movements. He also is non verbal. The future remains unknown but one thing I know for certain is 4H will never take away his smile, his affection or his lust for life.

Hope is 20 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 23 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.

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.

When Morgan was 10 weeks old, he started to demonstrate symptoms of colic, and our doctor simply suggested different holistic remedies we could try to alleviate his discomfort. However, as time went on his pain got worse, his round-the-clock screaming episodes escalated, and he failed to meet his 4-month developmental milestones. Morgan was evaluated by a pediatric gastroenterologist, and diagnosed with severe Reflux. We began a regimen of medications that seemed to help, however, by 6 months of age when Morgan had still not met his milestones, and he was still suffering and screaming 24/7, we became worried that there could be something very wrong. It was at this time that Morgan began to have episodes of eye fluttering, and his pediatrician was finally concerned! We took him to be evaluated by a pediatric neurologist. This doctor was concerned about the small size of Morgan’s head, and his rapid eye movements, and ordered an EEG and MRI to be done.

Our entire world came crashing down around us when we received the results of these tests! The test results in addition to the clinical symptoms he was demonstrating indicated that he was suffering from Pelizeaus-Merzbacher Disease, one of a group of 17 identified diseases classified as Leukodystrophy. The neurologist relayed this information to us as if it was a certainty and told us to expect to have to make difficult decisions and that we would never see his 4th birthday. Period, end of sentence. And nothing more. He didn’t offer us additional testing, advice, or resources. He wouldn’t refer us to therapy because “why bother?” In fact, he was resistant to even writing the diagnosis down for us emphatic that we wouldn’t find anything about it on the internet – until I told him I simply wanted to remember the mouthful he had just dumped on us! He was in fact very wrong, we did find information online, despite it being the infancy of the internet back then!

Shortly after Morgan was diagnosed, we were devastated to finally accept the truth of his prognosis. In fact, we kept it a secret from our family and friends for 3 long weeks until it just came tumbling out of my mouth one day! It was not until 10 long months after this rare diagnosis when we accidentally stumbled upon a Mom based in Indianapolis that changed our lives so dramatically. The name “Patti Daviau” was nothing more than an isolated hyperlink we discovered buried within hundreds and hundreds of pages we had read online – so I clicked the link and it opened an email box. The reply that I got from her was immediate, and instantly we learned that the only experts regarding our son’s issues were ourselves … no one knows your child like you do, and our number 1 priority was to be his advocate. Through Patti and her wonderful support group we learned so much, and to this day credit that group of parents way back at the beginning with making the biggest difference in our lives!

Over the years more Leukodystrophies were identified, as DNA testing became more common. For our family that meant that when Morgan was 3 years old he was tested for the gene marker for Pelizeaus- Merzbacher Disease and it was determined that he did not have this particular disorder and since we had been told that he tested negative for all known Leukodystrophies he was now being considered as “unclassified”. Wow, that was like starting all over with another blow to the gut! We participated in numerous studies for unclassified Leukodystrophies over the years with no new answers – in fact, his DNA has been shared around the world with many researchers in many different countries.

Having the Hunter’s Hope Foundation as the only resource available to us back in 1997 for this rare orphan disease that no one had ever heard about was a life saver for us! In an effort to give back, our family participated in the annual Day of Hope for Children in celebration of Hunter’s birthday. Our older son, BJ was a scout and enlisted the entire troop to sell candles and then they hosted the vigil each year. Our entire community looked forward to this event every year! Inspired by the Kelly family to pay it forward as they had done, and knowing first hand how valuable their support was, just prior to Morgan’s 4th birthday (a day we had been dreading for years) we decided to create a nonprofit organization of our own to help others on the same journey with their child and to give us focus for when he was gone and keep his memory alive. On August 21, 2001 we began The M.O.R.G.A.N. Project as nothing more than an online resource comprised of the thousands of online bookmarks we had saved from years of research. Little did we know that our little man had other plans – not just for himself but for this organization he inspired and that proudly bears his name!

As time moved on and Morgan proved the doctors wrong over and over and over again with each birthday cake, our family settled in to our “new normal” and life continued. We learned to become Morgan’s best advocate, and searched less and less for answers in the form of a definitive diagnosis and more in the form of Quality-of-life options. Our goal became and remains to give him the best days of his life, and focus on enjoying each and every one of them instead of focusing on what might have been, what will never be. In fact, back in the beginning of this rollercoaster ride Patti once told me “not to waste a single moment grieving for that child – there will be plenty of time for that later” and we adopted that as our family creed!

Our beautiful son Morgan is now 23 years old – Yes, the little boy that would never celebrate his 4th birthday will be blowing out 25 candles later this year!!!! Over the past 2 decades we have ridden this ride to the top, and free fallen to the bottom more times than you can count. Ironically, a few years ago when Hunter’s Hope decided to launch the LCN I was invited to participate on the Steering Committee based on my work over the years with The M.O.R.G.A.N. Project. As a direct result of this, I met a researcher that was conducting a study into unclassified Leukodystrophies and asked me if I wanted to put Morgan in her study. I hadn’t thought about a diagnosis in many years!!! By this time there are nearly 50 identified so of course we did, and when Morgan was 19 years old we finally had an answer – Aicardi-Goutières Syndrome. Funny thing was that somehow it didn’t really matter anymore, we had already lived a wonderful life with our little man concentrating on the pleasures in life instead. But … it was important for our family, as he has 2 brothers that can now be screened for the disorder.

The moral of our story is that the doctors rely on medical data and text books that have information based on studies that are sometimes decades old, and often times are no longer reliable sources of information. Leukodystrophy research, newborn screening, and even treatments are now the way of life for a family living with this class of diseases when caught early. And for a small minority of us, our kiddos decided to throw statistics out the window and stick around for as long as they want to! We are blessed, on a daily basis to still have Morgan in our lives. When we started The M.O.R.G.A.N. Project 20 years ago, little did we know that he would still be inspiring our programs today! This organization has given us a renewed purpose in our lives, and every family that we help is just one more way we get to honor Morgan and the inspiration that he truly is!

Our first inkling that something might be wrong was when Dylan did not sit up at 7 months. His checkup at 6 months had been perfectly normal. We took him to his Pediatrician, who shared our concern and started some testing. We were sent to the Genetics Clinic at Monroe Carell Children’s Hospital at Vanderbilt. We began to notice more alarming things. The doctors used the word “regression”, and we had no idea how serious it was to lose skills. Dylan could no longer suck his thumb, which had given him such comfort. After several weeks of excruciating waiting and eliminating various treatable illnesses, we were given the diagnosis of Krabbe Disease. We were handed a printout describing the horrible decline, debilitation and ultimate death that our precious little boy would face. We were told to contact Dr. Kurtzberg at Duke to determine if Dylan was a candidate for a stem cell transplant. That single suggestion was the total advice we were given. From there, we started to “recreate the wheel”, as each Krabbe family before us must have done. That is why we are part of the LCN. Our desire is for every child with the devastating diagnosis of Leukodystrophy to be given the best possible care.

We were told that the average life expectance for Krabbe children is 13 months, but “death is certain by age 2.”  Our Dylan lived until 10 days before his 5th birthday. We actually had to cancel the birthday party we had scheduled at Build-A-Bear. He lived 4 years, 3 months and 2 days after his diagnosis. We felt completely misguided about his life expectancy, but were grateful for each and every day. We never dreamed we would have so long with Dylan (but yet such a short time), so the decisions we made did not necessarily reflect a life expectancy of 5 years. That is why we are so passionate about the LCN. Children with leukodystrophies and their families deserve the best – the best care – the best research – the best information – the best life – the best love.

We want to honor our son Dylan’s life. Our lives revolved around Dylan for his short time on earth. We made a conscious decision to LIVE our lives WITH Dylan for as long as we could, when it seemed the medical community had just sent him home to die. We wanted him to enjoy as much of his life as possible. And now we want to REMEMBER HIM WELL by being involved with the LCN. The LCN is here to help families access proactive and comprehensive care for their child, not to individually “recreate the wheel” as families had to do in the past.

Before we go on, we must mention how we survived Dylan’s illness, eventual death, and the pain afterward: ONE DAY AT A TIME, WITH OUR LORD AND SAVIOUR JESUS CHRIST.

If not for Christ, and our firm knowledge that Dylan would be and is now with Him, we would not have made it to today. We would not have our marriage, our family intact, our sanity, or our relative emotional well-being. We know beyond a shadow of a doubt that Dylan is with Jesus, and fully restored to health, with no crying and no pain. We are confident that Dylan is “Dancing with the Angels, Walking in New Life”, as the song says by Monk & Neagle. We will end with a quote from the Mercy Me song entitled “Homesick”:  “In Christ, there are no goodbyes. And in Christ there is no end. So I hold on to Jesus, with all that I have, to see you again. To see you again”. Dylan, we will see you again, sweet boy.

This horribleness changed our life drastically but it did not destroy our Nick.  He lived a victorious life and passed into eternity with Jesus at the age of 23 on September 23, 2018.  I have since written a memoir to and about my son, entitled “I Love Him More”.  This book was such a wonderful help to me as I remembered back over our life with this amazing human.  It is not a book about the horribleness and sadness that this disease brought into our lives, although that is also present in every page.  It is a book of the hope we have because Nick was saved at the tender age of eleven and we know, since our family is all saved through the precious blood of Jesus Christ, that one day soon we will all be reunited in paradise.  We continue to live here on earth as well as we can, looking forward to that day! 

he was very smart, he had a little speech delay but caught up really fast. He loved reading books specially Doctor Seus- he read so clearly Green Eggs and Ham at 4yrs old I was amazed at his reading skills. He also read super heroes books and if he didn’t find one, he would go to the librarian and asked for more to read. He was getting good good grades, reading and writing in school suddenly he started regressing and his teachers were concerned because it was not his normal behavior. We took him to the pediatrician and then she recommended to a neurologist 2 months waiting for an EEG and a MRI were were giving the devastating news… Doctors took us out of the room and my husband and I sat with 3 more doctors, we were asked if we ever saw that movie “Lorenzo’s Oil”. We said that we didn’t know about it then they tried to explain how the bad gene affected his brain and that there is no cure we were both shocked after the devastating news we came home my husband and I cried… then we were told that we needed to check our little one Brian who was only 4, it turned out he also had the bad gene but the doctor said we can save him. We had to act fast his brain was started to be affected, we couldn’t find a donor for a bone marrow transplant and thankfully gene therapy was available for him. He received his new fixed cells in March of 2015 and Thank God he is doing amazing. Brian is able to play, walk, run, dance and go school thanks to his brother. We pray each day for a cure and strength to go forward day by day.

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 9^th 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 19^th 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.

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 10th Symposium and we look forward to it each year. This year will look so different but we will see everyone online.

This year Lily had Covid and was in the ICU on a vent for over 50 days. She came home on a trach but no longer requires the ventilator. She is one tough gal. Last month she received her Make a Wish Camper and enjoys camping with her family! Lily uses a talker to tell us her wants and making us laugh! She loves watching her shows and hanging with her family! (This is a photo of the Smith family with the MD state Governor.)

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 31 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!

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 42nd 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

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. She experienced things such as feeding difficulties, weight loss, muscle spasms, nerve pain, stiffness in her arms and legs, and much more. No one in our hometown could provide us with any answers.

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 7-year-old, exceeding all expectations, living life to the fullest, and defying all odds!

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.

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.