2023 Symposium Family Directory

Chris wasn’t home for the birth of Wyatt and then hit an IED on that deployment. Chris was finally home to meet his son when he was almost 6 months old. We were then expecting our second baby Katelynn. She was born on 10/31/08 and was only 15 months after having our first Wyatt.

Katelynn was born a healthy baby girl, she hit all her milestones on time or early. She was speaking early and had a high level of cognitive skills. She did start showing signs of something going on when she was about 6 months old. She was having this tremor when she was tired or just waking up. Doctors didn’t feel it was an issue and explained it away. She then started having some issues walking and was placed in physical therapy. She then started showing irritability and was crying hours at night. She then had neurological symptoms such as dilated pupils, foot turning outwards etc.

She was finally seen by a neurologist and had an MRI followed by labs. She was then diagnosed in September 2010 with Metachromatic Leukodystrophy.

Katelynn quickly lost all of her skills, and was wheelchair and feeding tube dependent within weeks of the first noticeable signs to doctors. I learned how to care for her and quickly became her advocate for care. Doctors had written her off as terminal and seemed to not care. Through some circumstances, we ended up with a blessing disguise and were sent to the naval hospital where Katelynn became a name and a child, not a number and a burden. We got some of the comfort care needed for her. We also were given the tools to help Chris in his military service, also Wyatt, and his needs as still a young child watching the loss of his sister happen right before his eyes. We continued all of Katelynn’s care at home for 4yrs of this disease.

In 2013 we became pregnant with our youngest Avalynn. At 10 weeks gestation, we went to Duke to have a CVS test to check on the status of her MLD and get her treatment if needed. She was found to only be a carrier. Avalynn was born on 6/7/14 and 4 weeks later we lost Katelynn to MLD.

We moved to Sallisaw, OK in August of 2016 when Chris was medically retired from the Marine Corps to be near his family. We have fostered a few kids with medical needs since then. Wyatt is now 15 a sophomore in high school and Avalynn is 8 and in the 2nd grade. Every day is still a struggle to deal with the loss of our Katelynn. It is a sharp pain from all we saw, missed, etc. for Chris, Wyatt, and me, and a pain of never really knowing her sister for Avalynn. She struggles with the learning of her through us and what she missed not having a sister around

I notice that her hand was more skinny than her right hand. And what shocked me more was one day that she told me that she forgot that she has the hand. She also was having headaches. I took her to her primary DR. She made an referral with a neurologist, but hey gave her an appointment until October. In August we were on vacation when we notice that she was dragging her left leg and was getting really tired. Her Dr. Told us to take her to the ER asap. We drove back home and stop at the closest emergency room from home. She had an MRI done as soon as we got there. Then like 3 hours later the doctors gave us the worst and scary news. She presents cyst, inflammation and white matter on her right side of her brain front and back. Also a little bit on her front left side. She was admitted to the hospital immediately. The doctor did hundreds of test, two Lumber punctures and a biopsy. CTS, Ultrasounds and many more test to figure out what was happening or the cause. We spend two long weeks at the hospital leaving behind our two kids. After all this test were done we came home with out a diagnosis. She improved on her hand movements and leg, but she was having headaches still. In September we drive almost four hours away from home to take her to a different hospital to get a second opinion leaving again out two kids. She had headache and the medicine wasn’t working. We spend five days at the hospital. In that hospital they gave us an idea of a possible diagnosis but not a lot of answers because they didn’t and still don’t know much about it. They told us that it could be Labrune Syndrome, but they are not sure because on the SNORD118 gene she’s normal. Until this day doctor are not sure or have found a reason or a cause of what happened. The closest diagnosis that we have had is Labrune Syndrome. She is in physical and occupational therapy and she’s been improving tremendously. We still going back and forth between the two hospitals. We still waiting on genetic testing results. Maybe we will have an diagnosis or not. We haven’t lost hope that we will have an answer. We haven’t lost faith that she will get better little by little. We are taking a day at time. Eve thought zoe has been through a lot. She keeps smiling. As a family we haven’t lost our faith in God.

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.

She is our 5th child and was diagnosed at 22 months old after, she had been walking and developing as normal, she stopped walking and that’s when we starting testing and found the VWM… We were crushed and found our new normal and Enjoy Jadie so much! She is such a blessing to us and brings us so much Joy! She helps us enjoy the little things in life!  We try our best to help her do the things our other kids do… Jadie plays Adaptive softball, baseball and soccer she loves it so much! We are exited to meet other family’s and learn from them!

The star of the show—Ezra—is six and a half years old and just graduated kindergarten! Ezra has Krabbe Leukodystrophy and was diagnosed via newborn screening. Because of this, he was able to be transplanted at Duke University at one month old. Ezra is an extravert and radiates pure joy. He loves a good cheeseburger, horseback riding, music he can dance to and anything involving chickens/eggs.

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.

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. 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.

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.

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 so thankful for each of you and look forward to seeing you In Person this year and sharing real 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.

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.

Around 3 months old we started to wonder why he didn’t make eye contact with us or lift his head up during tummy time. Tanner was born right before the COVID shut down so his pediatrician was rescheduling appointments of lesser importance. Not knowing what we know now, we didn’t push to see his doctor sooner. When we did see her around 4.5 months, she was concerned about his lack of meeting milestones with his below average head circumference (something we had never thought of/been told of prior). At 5 months, Tanner had an MRI and was diagnosed with an unknown Leukodystrophy. At 9 months, we did whole exome sequencing and he was diagnosed with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). Tanner’s disease is very rare, even more rare to present right at birth. We have been blessed to work with some of the most knowledgeable and kind doctors, but they haven’t always been able to give us specifics on what we can expect for Tanner’s life. Most of our appointments consist of us filling them in on how his disease is progressing. I’m very grateful to God that we can share how well Tanner is doing and that we just celebrated his 3rd birthday. He is severely visually impaired, he doesn’t talk, walk, or even sit up. But he is the most beautiful boy with the sweetest smiles and a laugh that draws everyone in immediately. He has a purity and simplicity to his life that I envy regularly. We don’t know what God has in store for the rest of his life. What we do know is that God has numbered his days, as all of ours, and He will be faithful to walk with us through each and every day with Tanner. And if God takes him before us, we know that one day we will all be together again in Heaven, praising our Savior!

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.

Amelia lived a healthy normal life, until she was 9 years old. Amelia began having difficulty in school, writing, toe walking, and then a drunk walk. It took over a year to get diagnosed despite seeing a few specialist in IL and had a lot of various testing. Amelia’s school nurse suggested going out of state and Amelia was finally diagnosed with a MRI at the Children’s hospital of Madison,WI in May 2022. We attended Rare disease week in Washington D.C. 2023 and met with our state senators and House representative and helped testify and advocate for Bill SB 67 to add MLD to newborn screening in IL. The bill was approved by Senate and House and is awaiting governor signing this summer! Our family is passionate about advocating and spreading awareness about MLD and newborn screening. We look forward to meeting fellow MLD warriors!

We started noticing many red flags with Bridger as he grew. By the time he was four months old, it was obvious to us there was something wrong. After seeing a pediatric neurologist at Primary Childen’s hospital, Bridger had some testing done, which included an MRI, an ABR, and blood work.

The ABR results were instant. The audiologist told us Bridger had ‘profound’ hearing loss. This news left us numb and completely devastated. As for the MRI results, I received a call from the doctor with the results on February 14, 2014, while walking into the elementary school to help with my sons Valentine’s class party. I remember the doctor say, “I wish I was calling with good news, but I’m not. What we found is not what we wanted to see….”

I felt my heart break into a million pieces as he explained the results. Bridger has a white matter brain disease, that falls in the category of Leukodystrophy. Initially, from the MRI, they diagnosed him with the leukodystrophy called PMD (pelizaeus-merzbacher disease), however, we have had many genetic tests completed and never has it pointed to being PMD.

With time, we also discovered, Bridger was born with congenital cataracts, slow motility, swollow issues, siezures, low tone, etc. He has had 10 major surgeries, a few of those included many complications and traumatic recoveries.

Along with the white matter disease, Bridger is fed through a J-tube, he is wheelchair bound, non-verbal and autistic. The reality of Bridger’s disabilities can seem daunting. My heart yearns for him to see clearly, hear perfectly, talk, walk, eat by mouth, and do everything that a typical 9 old should be doing.

Bridger requires constant 24 hour care. Between his 22 different doctors and 5 therapists, we are constantly juggling multiple therapy and doctor appointments. This takes up quite a bit of time and can be financially straining. We have tried so hard to find the balance between getting Bridger the help he needs while balancing our lives with two other children.

We still ache to have a diagnosis of what leukodystrophy he has so we have a better idea what our future holds. Seeing how well-adjusted and pleasant Bridger is, though, helps me to realize that his journey in life is beautiful and unique. We are so blessed to be along for the ride.
We are continually learning lessons each and every day from Bridger, both big and small. Most days I don’t feel worthy to be Bridger’s mom. He is so patient and accepting of his physical challenges. I never knew that even the tiniest of milestones or progress could steal my breath away and leave me in tears. I’ve also come to realize that no matter your challenges, never stop appreciating what is good in your life. When you look for the good, that’s what you’ll find.
We have also learned we can do hard things. We have learned more medical information about our eyes, ears, brain, stomachs, and such than most people will ever know in a lifetime. I know Bridger has come to this earth to teach our family and many others, lessons that could be learned no other way. He is angelic, pure, and oh, so sweet! It is such an honor and privilege to have Bridger in our home.

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! 

We arrived a little before noon on Thanksgiving Eve, 1992. The location was called Diagnostic Physicians 2 in Shands. She was called back almost immediately and we left Shandsl at 6pm that Thanksgiving Eve with a diagnosis. Dr Kenneth Heilman said a test was needed to confirm but he was sure it was CTX. He also said “now we have to figure out how to treat it.” Donna is “alive and kickin”. Donna could be the oldest living with CTX in the world. All of this is a blessing from GOD. I am so happy God chose me to love her and take care of her.

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.

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 25 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 10 years.

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 11th Symposium and we look forward to it each year.

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 8 ½ 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 12 years old and lives a very normal life of a boy, KRABBE FREE.