Families affected by a Leukodystrophy share their stories every day on social media. Their voices are unique, informative, and important and give a glimpse into the reality of living with a Leukodystrophy.
Abner Family
Chris, Kristal, Wyatt, Katelynn, Avalynn
Metachromatic Leukodystrophy (MLD)
To learn more about the Abner Family and Kristal’s Podcast Episode, click here.
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Agarand Family
Noah’s Gene Therapy Treatment Journey
Adrenoleukodystrophy (ALD) (Transplant)
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Aldrian Family
Steve, Nicole, Tyler, and Trevor
Krabbe Disease
Steve and Nicole Aldrian are the parents of their son Tyler and his twin brother Trevor. The boys were born on November 5, 2008. Trevor was diagnosed with Krabbe disease on June 10, 2009, too late for treatment. The Aldrian family has faced significant challenges with immense strength and love. Steve’s beloved wife, Nicole, courageously battled cancer until she went to heaven on May 12, 2014. Steven cared for Trevor until he went to heaven on October 24, 2021. Steven and Tyler live in Murrieta, CA.
Our story…Trevor’s and Nicole’s story:
On November 5, 2008, Nicole gave birth to our 2 beautiful fraternal twin boys Tyler and Trevor. The boys were born 5 weeks early with Tyler weighing in at 5 lbs 5 ounces and Trevor weighing 5 lbs 10 ounces. 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….
Allen/McAdams Family
Julie Allen and Tyler McAdams
Metachromatic Leukodystrophy (MLD) (Transplant)
To learn more about the Allen/McAdams Family and Julie’s Podcast Episode, click here.
Andrade Family
Jose, Zulia, Zoe, Joziah, Zuley, and Jayden
Labrune Syndrome
Jose and Zulia Andrade and their four children live in Orland, California. Their oldest daughter Zoe was diagnosed with Labrune syndrome on August 1, 2022. Her younger brother, Joziah, was also diagnosed with the same syndrome on October 25, 2023. The Andrade family also includes Zuley, and Jayden, their youngest son. Despite the challenges they face, the Andrade family remains united and resilient.
We are the Andrade Family, Ramon, Zulia, Zoe, Joziah, Zuley, & Jayden. Zoe has never had a health issue before. She is a happy and very strong girl. On March of 2022, we noticed that she wasn’t using her left hand as much. 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.
Arizmendi Family
Vince, Heather, Evelyn. Molly, and Owen
Krabbe Disease
We have a long but beautiful story. All 3 of our children have been impacted by the terrible effects of Krabbe. Our journey begins with our oldest daughter, Evelyn. Born on her due date, via emergency C-Section on 9/6/14, she was a perfect, happy, chunky baby. Around 5 months old her smiles started fading away, she was constantly fussy and began missing milestones.
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.
Blackwell Family
Ezra Blackwell
Krabbe Disease (Transplant)
To learn more about the Blackwell Family and Karlita’s Podcast Episode, click here.
Blanchard Family
Jace and Joelle Blanchard
Cerebrotendinous Xanthomatosis (CTX)
To learn more about the Blanchard Family and Bobbi’s Podcast Episode, click here.
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Boden/Miller Family
Team Jaxtien
Metachromatic Leukodystrophy (MLD) (Transplant)
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Bourassa Family
Nicholas and Joshua Bourassa
Krabbe Disease (Transplant – Joshua)
To learn more about the Bourassa Family and Becky’s Podcast Episode, click here.
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Broadbent Family
Extraordinary Emma Grace
Chaserr IncRNA Leukoencephalopathy
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Brooks Family
Eden Brooks
Metachromatic Leukodystrophy (MLD)
To learn more about the Brooks Family and Beth’s Podcast Episode, click here.
Feldt Family
Dawson Feldt
Krabbe Disease
To learn more about the Feldt Family and Kasey’s Podcast Episode, click here.
Goodin Family
Grant Us Grace
Multiple Sulfatase Deficiency (MSD)
To learn more about the Goodin Family and Tonya’s Podcast Episode, click here.
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Greene/Shell Family
Dalton and Anthony Shell
Krabbe Disease
To learn more about the Greene/Shell Family and Dianna’s Podcast Episode, click here.
Hoffman Family
A Rare Ruby
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC)
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Hughes/Tucker Family
Myles Tucker
4H Leukodystrophy
Myles is 4 years old and lives in the UK with his mom Georgia. Myles is affected by the POLR3B mutation of 4H Leukodystrophy.
Levasheff Family
Judson Levasheff
Krabbe Disease
To learn more about the Levasheff Family and Christina’s Podcast Episode, click here.
Marcucci Family
Madison Marcucci
Rare Chromosome Deletion
To learn more about the Marcucci Family and Kelly’s Podcast Episode, click here.
Martinez/Galindo Family
A Miracle for Marcus and Mariah
Krabbe Disease (Transplant)
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May Family
Dylan May
Krabbe Disease
To learn more about the May Family and Amy’s Podcast Episode, click here.
McVann Family
One Tough Cookie: Olivia’s MLD Journey
Metachromatic Leukodystrophy (MLD) (Transplant)
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Measles Family
Scarlett Measles
Krabbe Disease (Transplant)
To learn more about Scarlett and her Podcast Episode, click here.
Obryan Family
Hope for Makenzie
Metachromatic Leukodystrophy (MLD) (Transplant)
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Phillips Family
Nick Phillips
Adrenoleukodystrophy (ALD)
To learn more about the Phillips Family and Valerie’s Podcast Episode, click here.
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Priest Family
Priest Family Strong
Metachromatic Leukodystrophy (Transplant – Bryce & Izaiah)
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Purschke Family
Knockout ALD
Adrenoleukodystrophy (ALD) (Transplant)
Visit their website here.
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Rasberry Family
A Miracle for Ollie
Metachromatic Leukodystrophy (MLD) (Gene Therapy)
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Robinson Family
Rowdy’s Rare ODDDyseey
Oculodentodigital Dysplasia with cerebral white matter abnormalities (ODDD)
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Rowland Family
Hope4Aubrie
Mitochondrial Disease-Leukoencephalopathy with ovarian failure (LKENP)
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Schmitt Family
Jimmy Schmitt
Adrenoleukodystrophy (ALD)
To learn more about the Schmitt Family and Sheila’s Podcast Episode, click here.
Sereno Family
Sereno Warriors
Metachromatic Leukodystrophy (MLD) (Transplant)
To learn more about the Sereno Family and Lina’s Podcast Episode, click here.
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Shaw Family
Nala & Teddi’s MLD Journey
Metachromatic Leukodystrophy (MLD) (Teddi – Gene Therapy)
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Shullanberger Family
Bryleigh Shullanberger
Metachromatic Leukodystrophy (MLD)
To learn more about the Shullanberger Family and Kaprice’s Podcast Episode, click here.
Wagner Family
Emily Rose’s Journey
HBSL – Hypomyelination of the Brainstem with Spinal cord involvement and Leg spasticity
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Wallace Family
Jackson Wallace
Krabbe Disease
To learn more about the Wallace Family and Jenna’s Podcast Episode, click here.
Webb Family
Miracles for Mabry Kate and Owen
Krabbe Disease (Transplant – Owen)
To learn more about the Webb Family and Christin & Kyle’s Podcast Episode, click here.
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White Family
Moving with Meris – Our Journey with Alexander Disease
Alexander Disease
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Wilson Family
Marshall and Michael Wilson
Krabbe Disease (Transplant – Michael)
To learn more about the Wilson Family and Tammy’s Podcast Episode, click here.