LCN Family Stories

Our friends and family could not have been more happy for Nicole and I considering the very long journey we had been through with respect to becoming pregnant, multiple miscarriages, and finally successful fertility treatments. Nicole had a very difficult pregnancy involving “morning sickness” all day long, migraine headaches, and 56 days of bed rest in the hospital (but who was counting). Finally, at 4:18 and 4:19 pm on November 5th, 2008 (the day after the Presidential election) we became the parents of 2 healthy baby boys!
It was now time to go home and enjoy learning how to become the parents of twins. I took a leave of absence from work to help with the transition of caring for our 2 children.
At about 7 weeks we noticed that Trevor was spitting up a lot and that sometimes his milk would just pour out of his mouth if we laid him flat on his back. We inquired about this issue at our next appointment at the pediatrician. Our pediatrician diagnosed him as having infant acid reflux and she recommended changing his infant formula and prescribed a medication to shut down the acid being produced by his stomach. She said acid reflux is very common among premature babies and that it will likely go away between 7-15 months of age as the muscle at the top of the stomach strengthened – no longer allowing the food and acid to come back up the esophagus.
Nicole and I continued caring for the boys, but over time Trevor’s acid reflux continued to be a problem. He had become more and more irritable during feedings. We again asked our pediatrician about the reflux at our next appointment as Trevor’s weight gain had slowed considerably. Tyler at this point was eating much more than Trevor and was starting to show signs of being more developmentally advanced than Trevor. Eventually, Tyler was able to hold his head up and roll over, where Trevor was unable to do either. At 5-6 months Trevor’s development had stalled while Tyler continued to thrive.
At the boy’s 6-month checkup, the pediatrician determined that this was more serious than acid reflux and referred us to a GI specialist and a neurologist (reflux can sometimes be triggered by the brain and nerves). After tinkering with his reflux medications and awaiting the appointment with the neurologist, it became extremely difficult to feed Trevor without him crying and becoming upset. At this point, Nicole and I knew there was something else wrong with our son. How could he be starving and not want to eat? At this point, we insisted on being referred to Rady’s Children’s Hospital in San Diego to quickly assess the underlying cause of the acid reflux.
When we arrived at Rady’s on May 26th, 2009 we were assigned a room and met with the coordinating pediatrician on staff. The doctor quickly consulted with the neurologist and GI doctors to come up with a plan. After many different blood tests, we agreed that Trevor needed to be put under to perform a detailed MRI, spinal tap, GI endoscopy (scope of GI tract), and Ear-Nose-Throat scope of the upper esophagus and trachea, larynx, etc.
Trevor recovered from the procedures remarkably well and we awaited feedback from all the test data and procedural results. Two days later we met with a very well-respected metabolic neurologist. During this meeting, he informed us that although the basic MRI of the brain appeared normal, the spectrum MRI (detailed MRI of white blood cells in the brain) revealed some abnormalities. He, therefore, wanted to perform a few more lab tests for some very rare genetic neurological disorders. At this point, we became very frightened!
On June 10th, 2009, our son Trevor was diagnosed with a very rare genetic neurological disease called infantile Krabbe disease. Trevor’s fraternal twin brother Tyler who after undergoing testing was determined not to have the disease. Our neurologist informed us that Trevor would probably not live beyond 2 years of age and due to the devastating nature of the disease we should “seriously consider sedation and hospice” upon leaving Rady’s.
We had entered Rady’s thinking Trevor was simply failing to thrive, and two weeks later we left with a diagnosis of infantile Krabbe disease – a terminal illness. Our son was going to die and we were devastated with very little hope and no idea what to do next!
Luckily, we found Dr. Maria Escolar who is the leading Krabbe specialist in the USA. Although Trevor was too far advanced for transplant therapy, meeting with Dr. Escolar and her team gave us the opportunity to focus on Trevor’s health and learn all that we could about the disease and how to give Trevor the life he deserved. We were also able to get some medical equipment through the Hunter’s Hope equipment & supplies program.
We are forever grateful to Dr. Escolar and her team at Children’s Hospital of Pittsburgh of UPMC for teaching us that Trevor could live and thrive despite having Krabbe disease.
In 2012, Nicole was diagnosed with an aggressive form of breast cancer known as “Triple Negative.” After battling the disease for almost 2 years, Nicole lost her battle with breast cancer and passed away on November 12, 2014. Sadly, this was the day after Mother’s Day. Nicole was very active in the Krabbe community and was an unbelievable mother to her 2 boys. She was also an amazing wife with the most energetic and positive outlook on life. Nobody loved life more than Nicole and we miss her every single day.
Trevor went to heaven on October 24, 2021 at 12 years of age. I thank God every day that He chose me to be Nicole’s husband and Trevor’s daddy. I know Nicole’s emotions are mixed as she is hugging Trevi again but knows the painful path that lies ahead for Tyler and me.

God’s plan has made us strong and we will now continue to chase our dreams and live not only for ourselves but for those we have lost… our Nicole and Trevor. You both will never be forgotten….

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 doctor. She made a referral with a neurologist, but they gave her an appointment in October. In August we were on vacation when we noticed that she was dragging her left leg and was getting really tired. Her doctor 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 with a 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 again our two kids. 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. In October of 2023, our son Joziah was diagnosed with the same leukodystrophy as Zoe. 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.

Read more hidden text She also would seem so confused when she was told to go get something she would just stand and place and just scream when she needed to go to the bathroom.. so I decided to call our family pediatrician and have her be seen we soon went to have an MRI done and she was diagnosed with encephalitis…
Weeks went on and she just lost her ability to walk, talk and eat by mouth. I was told by the neurologist that patients with encephalitis do not have seizures. In February of 2003 Alyssa started having seizures and we could not figure out why so the pediatrician continued to search for reasons why Alissa was having seizures when she should not be with the diagnosis of encephalitis. We finally learned that we should be tested for krabbe disease. We did and we’re also asked if we had any more children and if we did they should be tested also and later found out that her brother Elijah also had krabbe disease.. by this time Elijah was 3 years and 4 months.
I started researching krabbe and found Dr Kurtzberg at Duke University specializing and core blood transplants. I spoke with her and told her about Alissa and Elijah .. Alissa was not a candidate for transplant.. Elijah was and on April 13th 2003 he had a stem cell transplant.. it went really well and he is 24 years old now and living a healthy life.. Alissa is still battling this horrible disease and is now 26 years old. Alissa keeps a beautiful smile on her face and Elijah enjoys doing magic card tricks.

In 2014, we were battling the simple joys of just trying to manage two toddlers and a newborn when Anniston began crying continuously. After a month of staying in the hospital, she was diagnosed with Krabbe at only 5.5 months old.

Our family found Dr. Escolar through googling and Anniston was seen by her around 7 months old, but at that time she was not a candidate for transplant.

Over the course of her five years, Anni was able to accomplish over one hundred different achievements. Some of the most memorable ones were visiting Niagara Falls, New York City, Washington D.C., Disney World, Sea World, the Great Smokey Mountains, and Legoland. She was able to attend prom, walk on homecoming court, be a cheerleader, ride in a personal jet, participate in a dance recital, and start her own clothing store – Anniston’s Arrows. With the help of mom and dad, she was able to complete a 5K, 10K, 10-mile race, and even a triathlon. Two of her biggest accomplishments were attending Kindergarten and learning how to communicate with an eye gaze machine.

Anniston left an impact on this world by touching thousands who followed her Facebook page Always Anniston. Two of her biggest contributions was passing the Anniston Bazar Act which will screen newborns for Krabbe in the state of Louisiana. Our family is still fighting for Louisiana to implement testing. She also inspired one of her therapists to design and patent a medical seating device named Anni’s chair.

We are so thankful for Hunter’s Hope and all the families we have grown to know and love as part of our own. We may have not accomplished nearly as much with Anni had it not been for all of the love and support we received throughout the journey. We saw so many families present themselves with such grace and we aspired to be just like that.

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.

After the tests cameck we were called into the office and the neurologist advised us that Nikola had a terminal brain disease called Krabbe Disease. He also told us that Nikola would not make it to his second birthday and that there was nothing that we could do and we were sent home. In the midst of the shock, anger, sadness and every other emotion that comes with being told that your first born child will die a cruel death, I was able to find Dr. Escolar from the Children’s Hospital of Pittsburgh on YouTube and the hospital’s official website. I quickly sent an email to an address that was listed on the website asking if anyone was able to help us. Within minutes I received a response asking me if I would be willing to speak with Dr. Escolar over the phone. A few short minutes later, I was on the phone with the lady who I was researching online because her biography stated that she treated kids with the same disease as my son’s. Dr. Escolar was brief and to the point. She wanted to know when Nikola was diagnosed, how old he was and if we were willing to travel to Pittsburgh the following week for a series of tests. Dr. Escolar explained that she could not promise that Nikola would be cured of this disease but did promise that she could make him comfortable. That’s all I needed to hear after having to watch him cry in pain around the clock for what seemed like weeks. Dr. Escolar also stated that all expenses would be covered.
After two full days of testing, we were told that Nikola was past the stage where any life saving procedure was possible. We were prescribed Baclofen and that evening was the first time Nikola stopped crying and actually began smiling again. We were also told what was to come and how to prepare for it. Suctioning, G-Tube, seizures, vision loss, hearing loss and all the other cruel things Krabbe Disease does to the brain and body.

We have been given lots of advice on how to care for Nikola. Some made sense and we implemented that advice and some just made no sense at all.

Nikola turned 6 years old on March 15th of this year. He is on home oxygen at 0.5 L via nasal cannula around the clock. His oxygen and heart rate are monitored around the clock. We have to deep suction him around the clock. He receives chest therapy twice a day and is on countless medications. That’s his baseline. Every week or every other week we’ll go through periods of seizures, muscle spasticity where he cries out in pain every few minutes and then holds his breath. That’s when we have to increase his oxygen by putting the non-rebreather mask on him at 15 L of oxygen and most nights I have to give him mouth to mouth just to stimulate him to breathe. We’ve had close calls. A few bouts of pneumonia were really scary. I’ve had to do CPR on him multiple times.

Even with all of this, Nikola keeps fighting. He is absolutely incredible. The resilience, strength and bravery to keep fighting has not only inspired his mom and dad, but countless people around the world.

He is Nikola Strong.

Liam was losing weight from the beginning. He wasn’t holding down bottles, he was arching his back 24/7. He also had very high muscle tone and was able to hold his head up and lift it at birth. We had our first peds appointment and he had lost more weight. We started doing weekly weight checks and supplementing with formula and tried an acid reducer, cereal in the bottle, but nothing helped him.

Fast forward to February 6th, we had our first appointment with Children’s GI, and from there we got admitted because he was still underweight at 6 weeks old and unable to hold down a bottle. We learned he has an unsafe swallow and was aspirating. From there all the testing happened and he had an MRI done. The MRI and genetic testing both showed Hypomyelinating Leukodystrophy type 3. Liam also has thinning of the corpus callosum, Microcephaly, epilepsy, hearing and vision loss.

Liam’s seizures are currently under control, he is gaining weight and working really hard on head control. We are so thankful for our sweet cuddle bug.

Read more hidden textGina was the fourth newborn in the world to receive a transplant for Krabbe disease. She received her “new life” cells at just 5 weeks old and was one of the pioneers who set the course for future patients born with Krabbe disease to receive a “hopeful” treatment to stabilize disease progression.
Gina was transplanted by Dr. Joanne Kurtzberg and followed for her neurodevelopmental growth by Dr. Maria Escolar. Gina was Dr. Escolar’s first newborn Krabbe transplant. Both physicians are Krabbe disease experts and have been instrumental in the outcomes of many patients not only with Krabbe, but other leukodystrophies as well.
Gina’s life was full of promise and HOPE! She was a very happy girl whose smile would light up a room. She attended regular school through 9th grade and was on the honor roll. Her favorite subjects were science and art. Her dream was to go to college to be a doctor! Gina played wheelchair soccer, participated in school plays and chorus and was a Girl Scout for 10 years. She snow-skied, swam, went boating and traveled to many destinations in the United States. She even kept a journal on all of the places she wanted to visit in the world. Gina had a service dog named Bella Rina and was an aunt at the young age of 9 to PJ. They had many sleepovers together and snuggled on the couch with Bella Rina to watch fun TV shows.
Unfortunately, Gina passed away at the age of 15 from peripheral nerve disease progression as a result of Krabbe disease. She left a legacy for researchers and clinicians that there is still more work to be done! Gina has been written up in many medical journals and publications teaching the world about her remarkable journey as a Krabbe disease pioneer.
As a parent for Phil, Nick, and Gina, I have been taught the value of unconditional love, gratitude and sincere appreciation for all individuals with and without special needs. My children have taught me how to survive in this world even after losing two of them to Krabbe disease. Each of my children have taught and provided me with unique abilities to make the world a better place filled with hope and promise.
As an advocate for Krabbe disease, I have founded Partners For Krabbe Research (P4KR), which funds brain and tissue research for Krabbe disease and other leukodystrophies; I have co-founded KrabbeConnect, a foundation that provides resources for Krabbe disease and bridges the gap between research and patient knowledge; I have authored the book titled: Just Like Me! A Girl With a Rare Disease; and am an Ambassador for the Rare Action Network (RAN) in the State of Florida, a program of the National Organization for Rare Disorders (NORD).
I have known my Hunter’s Hope family for 20 years. 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.

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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.

I noticed from birth he was different. He would have issues with eating, choking, and not gaining weight. After a few months of going back-and-forth with the pediatrician, we asked to be sent to Children’s of Alabama. We changed bottles, we changed 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 my mom and gave me 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 we arrived at Children’s Alabama, we were admitted for failure to thrive. He was 8 pounds at 4 months, gaining only 3 pounds since birth. They gave him an NG tube. Before leaving, we changed to the G-tube. We were 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 mutation of the PLP one gene. He also had severe neuro storming. They of course had no clue about this and had to research and learn just like we did. They had to try to keep him comfortable and said it would result in early childhood death. I said, “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 24/7. He was a very, very happy baby. He would hardly cry. He was a bundle of joy. He brought me peace and happiness. We spent most of our time inside due to him catching everything and staying sick but he would always have bright eyes and a smile.

In 2023, we had a rough year with Trea coding several times. They decided we should go to Disney World through Make a Wish so in August of 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 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 and less meds and doing so much better. We thought he was making a complete turnaround.

From the end of August to the beginning of October was the best time for him. He was so happy, making noises and moving more. Then on October 7, 2023, my sweet man coded again. This time, it was almost 30 to 45 minutes. We 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 and a flight to Children’s of Alabama was on the way. They took him unresponsive on life support. After several tests and seeing several doctors, we found out that there was nothing more we were gonna be able to do for him. So October 23, 2023 was the worst day of our lives. We never imagined it would 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 that Trea is no longer suffering and he is in a better place.

He had three older sisters and one older brother who all love 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, caregiver, advocate, and voice for the three years I was blessed with his presence.