BLESSINGS FROM BROOKS
Blessings from Brooks is designed to help families who are currently caring for a loved one with leukodystrophy. Families or individuals are able to submit a request below for clinical or other related needs. The requests will be reviewed and awarded in a timely manner and as the foundation's funds allow.
Below are a few stories of the families and patients that we have been able to help through your donations to The Brooks Coleman White Foundation.
Lilly was born January 21, 2013 following what seemed to be an almost perfect pregnancy. She seemed healthy and perfect in every way. Lilly was the best baby, so happy and content until about 2 months old. That’s when our lives started changing and hospitals became our second home. She was hospitalized several times due to excessive crying, refusing her formula and dehydration. Her local pediatrician didn’t seem concerned that she wasn’t meeting any milestones so we didn’t have a clue what was wrong with our sweet little girl until she was 10 months old and they sent us to the closest children’s hospital to get an MRI of her brain.
That’s when my world got turned upside down finding out that they found brain abnormalities and calcification throughout her brain. They led us to believe it was Cerebral Palsy and after researching it seemed to match her symptoms but something was telling me that wasn’t it. I finally got her in with a nearby genetic specialist at about 4 years old and after waiting months on our test results from the WES (which seemed like years) they told me they found something on the test they ran. All I could do was cry because I just knew they’d call back and say they didn’t find anything. It was heartbreaking and relieving all together. Lilly was diagnosed with a very rare genetic disease, Aicardi Goutieres Syndrome. She has the SAMHD1 mutation which is AGS type 5. Our local children’s hospital told me they didn’t know anything about this syndrome but that they would learn with me. I found a great support group on Facebook which is where I learned about the Children’s Hospital of Philadelphia and that they are one of the only hospitals with doctors who specialize in this exact diagnosis.
Lilly started going to Children’s Hospital of Philadelphia (CHOP) in December 2018 and we are so excited to say she just got accepted into the clinical drug trial program! We go next month to start it(November 2019) and hope to see promising results. Currently Lilly can’t sit unassisted, crawl, walk or talk but we have faith that one day she will learn to do some of those things. She is so strong and happy regardless of what all she has to endure. She recently got a “mic-key button” to help with getting the right nutrition she needs & she has been thriving since! There is currently no cure for AGS so this drug trial is our best chance at Lilly gaining skills or at the very least not losing skills she already has. Thanks to The Brooks Coleman White foundation for gifting us an airline gift card to help with some of our expenses. We couldn’t do all that we do for her without the help of others!
Bo was born on July 1, 2015. He was happy and seemingly healthy. After a few months, Bo’s parents noticed he was not meeting milestones such as smiling, cooing or head control. An MRI showed calcifications on Bo’s brain and his parents heard the words Leukodystrophy for the first time. At 7 months old, his Leukodystrophy diagnosis was confirmed. Bo had Aicardi-Goutieres Syndrome - Trex1 mutation.
Bo has been participating in a compassionate care drug trial at Children’s Hospital of Philadelphia with Dr. Vanderver since August 2016. He was the youngest child to be enrolled in the trial and his family felt very blessed to have the opportunity to give Bo the best that health care has to offer.
Bo’s family travels to Philadelphia every three months to be a part of the trial. His parents requested a stroller that was easy to maneuver in and out of taxis and their own vehicle. With your support, The Brooks Coleman White Foundation was able to gift Bo a stroller that is easy to maneuver during their travels.
Although the progress has been slow, Bo’s family finally saw him smile and heard cooing and laughter. His head control continues to improve every day. They will never give up on Bo and the other children fighting the Leukodystrophies. They “BOlieve”!
Jake and his twin were born at 38 weeks on July 11, 2014. They were sent home as “healthy” with no NICU stay, however after a few weeks his mother noticed a difference between Jake and his brother. Jake wasn’t interacting or looking at people, struggled to nurse, and never slept. At 11 weeks after Jake became very still one night he was rushed to the hospital for further testing. On October 2, 2014 after an MRI was completed, Jake’s parents heard the painful words “your child has numerous brain abnormalities, excess white matter and lacks brain folds. We don’t know why this happened or how long he has and I’m sorry there is not much we can do for him.” Jake’s mom immediately started researching white matter specialists and in June of 2015 he was taken to Children’s National Hospital in Washington DC where he was confirmed to have leukodystrophy, however the exact type is still not diagnosed.
For Jake’s family every day is full of constant stress because his health can be up and down all day long. Every night they make sure he doesn’t aspirate on his feed, have a seizure, or stop breathing. Jake gets physical therapy, occupational therapy, and speech or vision services in his home weekly. There are 6+ doctor appointments every month to monitor his condition and he is in and out of the hospital constantly due to high flow oxygen needs and constant pneumonia.
Jake and his parents travel to both Children’s Hospital of Philadelphia and Children’s Hospital of Atlanta every few months for him to see his specialists. With your support The Brooks Coleman White Foundation was able to gift Jake a medical stroller to help transport medical equipment and support him during travel to specialists. His family is so thankful that there are centers of excellence that bring together numerous specialists to provide comprehensive care to him during visits. They are hoping that one day his form of leukodystrophy will be diagnosed so that greater focus can be given on the life sustaining care he needs.
“For before you were born I set you apart.” Jeramiah 1:5
Luke's story is unique as it begins in utero. During his mother’s pregnancy, Luke had calcifications in his liver and echogenic bowel. The doctors suspected that it may be Downs Syndrome or Cystic Fibrosis. He tested negative for Down Syndrome, but due to the number of strands of Cystic Fibrosis, he was not tested. His parents knew that no matter what, he was a gift from God, destined to be theirs, and he was already loved so much.
Luke came into this world on May 12, 2013, Mother’s Day. He was born healthy and x-rays showed that the calcifications in his liver were gone. Life was bliss…for 12 days. After that, Luke started screaming and crying in pain all day, every day. He stopped eating and sleeping. Multiple trips to the doctor and even a two week hospitalization gave no relief, until he had an MRI.
Luke’s mother would never forget reading the MRI report that showed “possible leukodystrophy.” This started a search for answers. Luke’s family traveled to multiple doctors throughout the United Stated until he was ultimately diagnosed with Aicardi-Goutieres Syndrome. Can you imagine being told that you will lose your child? Luke’s mom remembers the doctor telling her those exact words, and that’s when she decided to fight with all she had in her.
To this day, Luke and his family continue fighting. It is very important to them for Luke to be included in all aspects of daily living, so with your donations The Brooks Coleman White Foundation was able to gift him a Tomato Soft Sitter. This seat brings them one step closer to inclusion. Luke’s mom reports that he is thriving. Not thriving in the sense of a typical 5 year-old, but thriving nonetheless. Luke attends school and loves his friends and teachers. He enjoys spending time outside, hanging out with his cousins, swimming, swinging, and watching his favorite cartoons- Mickey Mouse and Veggie Tales.
“For My thoughts are not your thoughts, neither are your ways My way,” declares the Lord. “As the heavens are higher than the earth, so are My ways higher than your ways, and My thoughts than your thoughts.”
Leo was born in February of 2016 following a normal pregnancy. In just the first couple of days of Leo's life his parents started to notice some concerning characteristics and decided to take him in to their local children's hospital. After an MRI and blood tests the doctors suspected a genetic disorder and ran test after test trying to figure out the cause of Leo's issues.
At around 8 months old Leo began to regress, losing the ability to roll over and also losing the ability to eat safely without aspirating. Leo was once again admitted into the hospital where the doctors decided to do a complete genetic sequencing. Two months later, his family was shocked to get the results stating that Leo had a very, very rare genetic disorder called Aicardi-Goutieres Syndrome (AGS).
His parents immediately began researching and digging for anything that would help. They found Children's Hospital of Philadelphia had an AGS specialist that was currently doing a compassionate care drug trial. This trial could potentially help reduce the inflammation in Leo's brain and body. Leo was accepted into the trial in July of 2017 and they have been traveling to Philadelphia every 3 months since.
With your support, The Brooks Coleman White Foundation was able to gift Leo and his family airline gift cards to help offset the cost of traveling to Philadelphia. Since starting the new medication from the drug trial, Leo has been doing really well. He has started learning to crawl and is beginning to say words. He is still fed through a g-tube and has trouble with low muscle tone, but every single day he surprises his family with his progress.
Korbin was born a happy and healthy baby boy in October of 2014. Around his first birthday, his parents Ashlee and Mark noticed that among other health concerns, Korbin started struggling to walk in his baby walker. They began searching for answers.
Korbin was originally diagnosed with mini-strokes, and after just shy of two months of ineffective treatment, Korbin was admitted to Boston Children’s Hospital (BCH) where he underwent numerous tests. After two months of testing in BCH and no diagnosis, the doctors ordered whole genetic sequencing to search for any genetic mutations that would reveal the cause of Korbin’s health concerns. Two weeks later, the family received the results of the genetic sequencing – Aicardi-Goutieres Syndrome. Their son had a rare form of leukodystrophy.
Currently the treatment for Aicardi-Goutieres Syndrome is symptomatic and there is no cure. However, the family received good news when Korbin was accepted into a compassionate use study at Children’s Hospital of Philadelphia (CHOP) in the early part of 2017. The study would allow pharmaceutical companies to provide baricitinib, an experimental JAK 1/2 inhibitor, to eligible patients outside of a formal clinical trial. Patients with Aicardi-Goutieres Syndrome are thought to benefit from JAK1 and JAK2 inhibition and therefor from treatment of baricitinib.
Korbin and his family have been traveling to CHOP for treatment from their home in Vermont since March of 2017. So far they have made five trips this year and are seeing promising results. Although still confined to his wheelchair and a pureed diet, Korbin is able to build a tower of seven blocks and can sit without assistance for up to a minute. Korbin’s mom credits this progress to the baricitinib treatments and said, “this drug is the highest hope we have of him living longer, or developing a cure.”
The family is pleased with Korbin’s improvement from the compassionate use study, but the large amount of travel required is costly. In our effort to show them we are in this fight against leukodystrophy together, we gifted the family a gas card to help with travel expenses to and from CHOP.
The support of this family was made possible thanks to your generous donations. We look forward to blessing other families in the future with your continued assistance!
Mabry Kate and Owen
We’d like to share with you the Webb family – Kyle, Christin, their late daughter Mabry Kate and their son Owen. This family has courageously battled leukodystrophy with both of their children and has worked hard to help others facing a Krabbe diagnosis as well.
Kyle and Christin welcomed their first child, Mabry Kate into their family in March of 2014. She appeared happy, healthy and was meeting her milestones, including their favorite – her smile. Shortly before Mabry was three months old, her parents began noticing she was having trouble with her feedings, muscle spasms, and her cherished smile had disappeared. They began to search for answers. After nearly four months, numerous doctors , specialists, surgery to place a feeding tube, multiple tests, and a lengthy hospital stay, they were given the news their daughter had Krabbe leukodystrophy. There was no cure for Mabry Kate’s disease. The disease had also progressed too far for any form of treatment. She was sadly given a two year life expectancy and would be kept comfortable with symptomatic treatment and the love of her family.
Shortly before the Webb’s found out about Mabry’s diagnosis, they discovered the surprising news that they were expecting their second child who would come to be their son Owen. Along with Mabry’s diagnosis the family was also informed that the disease was passed down from both of them being carriers, and any other children they had would have a 25% chance of inheriting the same disease. The family did prenatal testing and found out that Owen did in fact inherit Krabbe as well. It is important to note that if a child is born pre-symptomatic, they may be eligible for a cord blood transplant, potentially delaying disease progression. They were put in contact with a doctor at Duke University and planned for Owen to be born and receive a cord blood transplant shortly after birth.
Kyle and Christin treasured their days with Mabry Kate, never knowing which day would be her last. Sorrowfully, about a month before Owen was born, Mabry Kate passed away just shy of 11 months old in the arms of her mom and dad. Amidst their heartbreak, the family moved to North Carolina and continued their fight against Krabbe with their son, who later Mabry Kate would be credited to saving the life of through her brave fight.
In March of 2015, Owen was born. His Krabbe diagnosis was confirmed and the disease progression was evaluated, with results of no progression – great news! Owen underwent an aggressive chemotherapy schedule to prepare his body to accept and not fight off the donor cells. In April, Owen received his cord blood transplant and the family would spend nearly eight months in North Carolina, in preparation and in recovery from this procedure.
The best news is Owen recently celebrated his 2nd birthday in March of 2017 and is doing remarkably well! Although he is slightly delayed in his milestones, he is able to laugh, stand, take steps, play, smile and is expected to catch up to his peers very soon.
Mabry Kate can be credited to saving Owen’s life and her parents were determined for her to save others as well. They worked with their legislators and other families affected by Krabbe in the state of Tennessee to pass the Mabry Kate Webb Act. This act was approved in August of 2015 and took effect in July of 2017, requiring all newborns born in the state of Tennessee to be tested for Krabbe along with five other leukodystrophies. The Webb family will continue to make a difference in the lives of those affected by leukodystrophy and we thank them for their efforts against this devastating group of neurological diseases.
The Webb family touched our hearts and in an effort to let them know we see them, we hear them and we fight this fight with them, The Brooks Coleman White Foundation wanted to do something special for them. Through conversation, we discovered Owen recently received new foot braces making it possible for him to walk, but would need shoes two sizes larger than his normal shoe. We were gladly able to purchase shoes for Owen thanks to your charitable donations. In addition and again, thanks to your kindness, the foundation was able to take care of a portion of Mabry Kate’s medical expenses, hopefully easing the family’s burden and once more, letting them know we are here for them.
With your generous help and support, we look forward to blessing other families affected by leukodystrophy in the near future.