2025 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. 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 noticed 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 a referral with a neurologist, but they gave her an appointment not until October. In August we were on vacation when we noticed 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 stopped 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 tests, two Lumbar punctures and a biopsy. CTS, Ultrasounds and many more tests to figure out what was happening or the cause. We spent two long weeks at the hospital leaving behind our two kids. After all these tests were done we came home without a diagnosis. She improved on her hand movements and leg, but she was still having headaches. In September we drove almost four hours away from home to take her to a different hospital to get a second opinion leaving two kids out. She had a headache and the medicine wasn’t working. We spent 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 doctors 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 are still going back and forth between the two hospitals. We are still waiting on genetic testing results. Maybe we will have a 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 a time. Even though 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.

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At four months old, Penelope was admitted to the hospital due to weight loss, where she spent 22 days undergoing tests and receiving care. An MRI revealed white matter abnormalities in her brain, leading to further genetic testing. Soon after, we received the heartbreaking diagnosis: Krabbe Disease, a rare and progressive neurological disorder that affects the nervous system.

Following her diagnosis, we made the difficult decision to transition home with hospice care, ensuring Penelope’s days are filled with love, comfort, and peace. Despite the challenges, Penelope is growing so big and strong and continues to show us her incredible spirit every day.

She absolutely loves cuddles with her mommy and daddy, soaking up every moment of warmth and love. Music brings her so much joy, and she enjoys being outside, feeling the breeze on her face. She makes the sweetest noises when she gets doggie kisses, and she treasures her independence—sitting by herself and watching her favorite movies.

Penelope’s strength and resilience inspire us daily. She is surrounded by endless love and unwavering support, and we are committed to giving her the best possible care while raising awareness and advocating for a cure.

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.

But as the days turned to years, we saw more: both feet turning inward, a tremor that made her hands shake, and cognitive delays that left us searching for answers. An MRI when she was six revealed white matter changes that no one wants to see. Genetic testing confirmed it: HSPD1-associated leukodystrophy, a name that felt too heavy for a little girl who loves giggles and sunshine.

Gracie’s diagnosis didn’t just change her story—it changed ours. We’ve learned to hold the tension between heartbreak and hope, to sit in the quiet and listen for the whispers of God’s goodness. Gracie is a teacher of grace, a mirror of resilience, a daily reminder that even in the darkest days, we are not alone.

She adores people, animals, and babies—her heart is big enough to hold them all. Every day we pray for a miracle. And every day we find small ones—her laughter, her curiosity, and the light she brings to every room she enters. She is our precious gift, our reminder that God is with us, even here, even now.

I noticed from birth he was different he would have issues with eating choking, not gaining weight after a few months of that going back-and-forth with the pediatrician, we asked to be sent to children’s of Alabama we changed bottles we change formula nothing was working. He also had no stag in his eyes, and he would also posture and sweat and have these little spells at the time. We had no clue what any of this was or why it was happening . I just kept saying, God wanted him to be special. He took her and gave him and wanted my hands to be full, loving and caring for him not only as a mother, but as a full-time caregiver, learning everything I had to learn in a matter of days so once a arrived at children’s Alabama was admitted from Clinic appointment for failure to thrive. He was 8 pounds at four months , gaining only 3 pounds since birth. They gave him an NG tube before leaving of course we changed to the G-tube. We was inpatient the first time for several weeks after we found out our baby had pmd Pelizaeus-Merzbacher disease The most severe case he had a triple ation of the PLP one gene also had severe Neuro storming. They course had no clue about this and had to research and learn just like we did they had to try to keep him comfortable also saying it will result in early childhood death. I also have strong face saying no God would not take him after taking my mother. The first year after being diagnosed was very challenging learning the new ways to feed with G2 learning to use suction for secretions, then breathing treatments cough assist to help with coughing and then later on eventually O2 with pulse he was on tons of meds and had to be watched 24 seven he was a very, very happy baby. He would hardly cry. He was a bundle of joy. He brought me peace and happiness and of course we spent most of our time children due to him catching everything and staying sick but he would always have bright eyes and a smile and 2023. We had a rough year coding several times then they decided we should go to Disney World through mega wish so in August 2023 We did my sweet baby coded there for 25 minutes no pulse no breath. I thought it was the end. I hit my knees and gave it all to God that day . The machine started beeping. He was breathing on his own again after a week in ICU there they then decided to transfer him back to Alabama by jet he stayed in childrens of Alabama for two days after arriving he was on less oxygen less meds and doin so much better thought he was making a complete turnaround from the end of August to the beginning of October was the best times for him he was so happy making noises moving more then October 7, 2023 my sweet man coded again. This time was almost 30 to 45 minutes. Nothing took him to the local hospital. Doctor was going to call it. He pulled me outside and said we’re going on 30 minutes nonstop and there’s nothing more I can do for him. I said please don’t give up. I know he still has a chance so he continued. They finally got him stable flight to children’s of Alabama was on the way. They took him unresponsive on life support after several test seeing several doctors we found out that there was nothing more we were gonna be able to do for him. So on October 23, 2020 was the worst day of our lives a day. We never imagine to come so soon, but there was nothing more anyone could do. We let him go home to be with the man above our Lord and savior and of course our world our Nana it definitely took a toll on our family, but we just remember he is no longer suffering and he is in a better place. He had three older sisters and one older brother who all loved him so much, he definitely changed all of our lives. I’ve learned so much since having and losing him my baby will be forever three and I will be forever thankful that I got to be his mother. His caregiver his advocate his voice for the three years I was blessed with his presence.

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.

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!

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.

When we finally received the diagnosis, it felt both devastating and validating. Sadly, Cassidy went to heaven on February 28, 2020. Her time with us was short, but she changed our lives forever. She taught us about unconditional love, about the importance of fighting for answers, and about how broken the system can be for rare diseases like Krabbe.

We share her story so others won’t feel alone in their search for answers—and in hopes that one day, other families won’t have to go through what we did.

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 were 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 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 lifesaver 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 firsthand 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 into 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, and 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 26 years old – Yes, the little boy who would never celebrate his 4th birthday will be blowing out 27 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 who 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. The 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 who can now be screened for the disorder.

The moral of our story is that doctors rely on medical data and textbooks that have information based on studies that are sometimes decades old, and oftentimes 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 wanted 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 as a family more than 2 decades ago, little did we know that he would still be inspiring our programs today! Much like my dear friend and mentor Patti Daviau and the incredible Kelly Family that made such an impact on my life, I have been honored and privileged to be able to “pay it forward” in my own son’s name and get to honor Morgan and the inspiration that he truly is!

For me personally, this organization has given me a renewed purpose in my life and given me an opportunity to use the lessons learned along my journey to help light the way for other families as they navigate their own. Making the decision in 2023 to dissolve The M.O.R.G.A.N. Project after 22 years was bittersweet for me, as there have been many life changes recently. This has certainly been a time of reflection, and it is so clear that my focus is to continue to provide Morgan with the best Quality of Life possible and to continue to advocate for families living with Leukodystrophy.

I will be eternally grateful to the Hunters Hope Foundation for providing both for me – The M.O.R.G.A.N. Project with the opportunity to continue Morgan’s Legacy Gift through this endowment and for allowing me to continue serving on the steering committee for the LCN.

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 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.

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 over 20 years.  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.

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 27 years. We enjoy volunteering at different events. Steven considers it an honor to be on the board of directors at Hunters Hope for over 12 years.

They were sent down to UPMC Children’s Hospital of Pittsburgh for further testing and to get answers. That’s where we met an awesome person in Dr. Escolar, if you were here last year, that name should ring a bell. She reassured us that they will live past the age of 2. What we didn’t know till we talked with her was that Trevor and Brendan were first. First kids since our state reps passed this disease to be on the newborn screens (passed May of 2021), and also her first kids for a trial study.

Trevor was first, and he went through chemo, BMT, and the Study gene. The only hiccup was that while doing the chemo, we found out he had a reaction to one of the medicines and went completely unresponsive. But he made it through all good and is doing very well physically. He is walking, running, climbing on playground equipment, jumping, but mentally he was diagnosed with non-verbal autism.

Brendan was second, and he was the stubborn problem child, so to speak. He went through COVID, stomach issues, in and out of the hospital for almost an entire year. But he came out better than ever, physically,y he has some limitations due to an unknown condition (at the time of this, we have yet to get a second opinion). He runs, walks, throws, kicks, and climbs. Mentally, he is too smart for his own good, all letters, most basic shapes (including Pentagon, hexagon, octagon), counts to 29 and backwards from 10, days of the week, just to name a few.

Our boys are hopefully the vision of hope for this disease that there is a way to stop the progression.

Blaine was born on March 10, 2013. He was born five weeks early and that was a cause for the doctors to say that he was a little bit delayed in his milestones. As we approached his first birthday, he had an acute illness along with his sister Brooklynn and we were seen by another pediatrician. During this appointment, the doctor was very concerned at his abilities and lack of. She ordered an MRI and sent in a referral for neurology and genetics. During this time, we were unsure of anything quite honestly that would even be wrong with Blaine. But in the waiting, we were misdiagnosed a few times. Then the MRI results happened and there was really no misdiagnosing that he had leukodystrophy. The neurologist we saw at the time was not sure which type. We had gone through multiple tests and there was 6 to 8 weeks in between each yes or no.  So, in the meantime, I found Dr. Escolar in Pittsburgh and we drove there and we were able to get a diagnosis within two days of Krabbe. The diagnosis of Krabbe was an immediate feeling of we are doomed, and we have no time left with our son.

I immediately knew at this time that I would be Blaine‘s caregiver and I would do everything in my physical and emotional powers to keep him happy and comfortable. I’m not going to say it’s easy to be a caregiver, but I’m going to say it’s the most fulfilling thing I’ve ever done, hand-in-hand with being a mother.  But, if we had just fast-forward through all of those years and look at where we’re at now with Blaine being 12 years old, non-transplanted and doing pretty well overall I would’ve been shocked if someone would’ve told me that then.  I found my faith from the time of being a young mom and dealing with such a diagnosis, and I fully believe that this was all in God‘s plan and I hope and pray that we are doing everything the way that he has wanted us to and we are making him proud. Living a life while loving someone with a Leukodystrophy is very difficult, but I can promise you it is full of more love and hope than the people who may not experience this type of feeling.

Hunters Hope was an organization that we found probably within the first year of diagnosis, and I can say that connecting with them and other families was truly what saved my sanity at the time because I had felt completely alone until I found this community.

In the latter part of 1st grade- Aidan started having vision problems which led us to various doctors. After meeting with a neurologist, he recommended an MRI which gave us the diagnosis of ALD.

Aidan was eligible for bone marrow transplant and we moved our family to North Carolina so he could receive a bone marrow transplant. Unfortunately, Aidan was a late diagnosis and spent the last 10 months of his life living in the hospital and passed on April 29, 2012.

During the time we lived in the hospital I researched anything that could possibly save his life, I came across the fact there was a newborn screening test for ALD, but not one state was putting it to use. I knew an early diagnosis would have meant the difference between life and death for Aidan and for thousands of other boys across the country. In late 2012, I started the Aidan Jack Seeger Foundation, with our primary focus being newborn screening. On March 29, 2013- Aidan’s Law was signed – New York became the first state to start testing every baby born for ALD.

Our work continued as we advocated state by state as well as federally. As of 2024, there are 44 states testing for ALD. We are also working on a federal initiative to help all conditions added to the Federal Recommended Uniform Screening Panel move forward. Our hope is that every rare disease with a treatment will be tested at birth to save our future babies from disability and death.

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 12th Symposium and we look forward to it each year.

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She always greets her teachers and therapists with huge smiles and everyone falls in love with her joyful personality immediately! Remy lives most of the week at home with me (mom) and spends weekends with her father and grandparents who all live nearby. She is currently enjoying nursery school at Bornhava, and is currently awaiting placement in a program for the fall. We hope that with consistent therapies we can minimize her regressions for as long as possible while we wait for the two upcoming clinical trials for her condition to become available!

We will trial an augmented communication device that utilizes eye gaze in hope she can use it to convey some simple words and phrases in the future, and she is currently scheduled to have her tonsils, adenoids, and gallbladder removed (tonsils and adenoids due to obstructive sleep apnea, and due to MSD having high instances of gallbladder stones and infections. Hers is already appearing sludgy on ultrasound, and as it is a non-essential organ they are opting to remove it before it becomes a problem). He will also have a G.I. tube placed at that time, since as her condition deteriorates she will begin struggle eating and they have explained to me that it is definitely better to install the tube earlier rather than later.

Read more hidden textInspired by Bryleigh’s strength and the outpouring of love & support the Shullanbergers received following the MLD diagnosis, the family started The Believing for Bryleigh Foundation, a 501(C) 3 organization that promotes Leukodystrophy awareness and provides financial assistance to families throughout the USA living with MLD and other Leukodystrophies. Since 2013, Bryleigh has moved mountains and even though she has now earned her angel wings (10/21/21), she continues changing lives. Her foundation has raised more than $2 million dollars and has helped countless Family Registration families and other non-profit organizations that support those affected by Leukodystrophies.

As he grew, his speech improved, but he became increasingly selective with food, prompting occupational therapy for sensory issues. David charmed everyone he met and started kindergarten on track, but over time began falling behind, requiring special education support. His therapies became harder, progress slowed, and physical stability declined. When his school nurse voiced deeper concerns, a pediatric neurologist friend helped start a series of tests. At age 9, an MRI revealed neurological concerns, leading to months of testing. MRIs, bloodwork, sleep and swallow studies followed, and finally genetic testing, which confirmed a diagnosis of Alexander Disease. Today David is 17 and while his AxD has progressed to where he needs a wheelchair for most of his mobility needs, his humor and happiness shine. He hopes to be a famous you-tuber and loves taking video game design classes and playing baseball with the Miracle League. He loves anything and everything about dogs and can’t wait to tell you a joke.

It was the best birthing experience. During my pregnancy, I would always giggle because I felt Wade kicking or moving in such a way that felt like he was digging out of my stomach. When he was born, he didn’t cry, which was startling and made me uneasy, but everything else was perfect. The doctors reassured me that he just wasn’t a crier. After spending a couple of hours with our newborn Wade, I noticed he was kicking very quickly. Not like any kick I’ve ever seen, instantly, I knew something was off. I knew what I was seeing was what I felt in my belly. I questioned what was happening and mentioned it to the doctors. Again, they reassured me that he was completely normal and just having normal newborn responses. The kicking continued, and I believed them to be tremors.

After an extended time with Wade, we noticed he wasn’t latching and had a very noisy stridor. He was struggling to eat, and I had to supplement with formula. A week had gone by, and things were still the same, with little to no progress, especially with eating. We took him to his PCP and expressed our concern. She heard me and told me not to stress yet, that we were going to look for zebras (common things), not unicorns (uncommon things). We ended up looking for a neurologist because things didn’t seem normal. He was failing to thrive and wasn’t making much progress on his milestones. We had an MRI, which came back normal. We were at a loss. Fast forward to November 2024, we ended up in the hospital because Wade came down with the original coronavirus and started acting like we had never seen him before. “Neurostorming.” This is when the doctors realized something was seriously wrong with our baby boy. They expedited all kinds of testing that could have taken months or even up to a year. We got the results back within a week. Our world came crashing down. He was diagnosed with 4H Leukodystrophy.

We love Wade immensely and provide as much love and comfort as we possibly can. We have a lot of bad days, but the good days outweigh them all. We fight every day to be what he needs as parents, and cherish every minute we have with him. Our goal as a family is to keep him comfortable with quality of life and to take it day by day. Wade just turned 1 year old on May 15th, which was the best milestone we could have hit as a family. We don’t plan on having any other children unless IVF is an option for us. We truly believe that we were meant to be his momma and daddy.

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 10½ 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.