Here are some of the stories of the growing family of children with H-ABC. Read their stories as well, each one of them is different.
Meet Lauren. Lauren, a forever 4 year old from Ottawa, Ontario. Lauren was diagnosed with Leukodystrophy in June of 2013 after a month admission at the Children’s Hospital of Eastern Ontario. Because there are over 40 different types of Leukodystrophy, it took just under 2 years for Lauren to be diagnosed with H-abc Leukodystrophy in May of 2015. Unfortunately Lauren never met any milestones and this came to great concern for both my husband and I. Lauren first presented symptoms at 6 months of age. Lauren was classified blind, had severe dystonia, could not eat by mouth due to silently aspirating, nor lift her head, bring her hand to her mouth, talk or crawl. Lauren lived with her Mom and Dad in a suburb of Ottawa, 25 minutes from the children’s hospital which Lauren received care 3 times a week. Lauren was seen by Neurology, Complex Care, Genetics, Occupational Therapy, Physiotherapy but more frequently, the palliative care team. Lauren spent a week out of the month at the Roger Neilson House, a paediatric palliative care hospice in Ottawa to be monitored for pain and symptoms relating to her disease. Lauren enjoyed music, being outside, cuddling and swimming. Unfortunately due to the progression of the disease, and complications relating to the disease, Lauren passed away on November 3, 2016. Lauren will always be known for her beautiful smile, big blue eyes and contagious laugh. We miss her every single day and will continue to live her legacy. To learn more about Lauren and to follow us in her legacy, view Lauren’s Facebook page @ https://m.facebook.com/lifewithleadinglauren/“.
Meet Maverick. Hi! My name is Maverick and I LOVE life. I probably have one of the best ever!! I’m truly a very happy little boy. I am 4 years old and have an older sister and brother that I adore. My Mom and Dad say I’m exactly like them in “almost” every way. My older sister is 8 years old, very caring, kind and sort of bossy; her name is Makayla. My older brother is 6 years old. He is smart, care-free and kind of sassy; his name is Matt. I absolutely love them to pieces and try to do everything that they do.
Mom and Dad say I’m “almost” like them because we found out at the beginning of August in 2017 that I have a Leukodystrophy. In fact, not a lot of people have Leukodystrophies. Leukodystrophies are genetic brain disorders that are set-apart due to the degeneration of white matter in the brain. This disease of mine targets my mobility and muscle functions and the combined incidences of leukodystrophies is 1:7600. However, my geneticist says that my Leukodystrophy is the rarest of all. At the time, I was only the 72nd person in the entire world to ever be diagnosed with Leukodystrophy H-ABC (Hypomyelination and Atrophy of the Basel Ganglia and Cerebellum). My geneticist also theorizes that I have this disease based on a spontaneous mutation that happened in my genetic code at conception or in the womb as I have exhibited symptoms of this disease since I was a little baby.
I live in Fort Wayne, Indiana and my care resides in Philadelphia at the Children’s Hospital of Philadelphia (CHOP). I see doctor’s in the Rehabilitation, Gastroenterology, Neurology, and Genetics Departments. They help my Mom and Dad look for better avenues towards advancing my care. This diagnosis was an incredibly surreal moment for me and Mom and Dad as we have been searching for answers since I was 6 months old. My care started in Indianapolis, Indiana at Riley’s Children’s Hospital when we lived in Lagrange, Indiana before moving to Wisconsin when I was almost 2 in the fall of 2015. A Special Needs Team at Milwaukee’s Children’s Hospital helped get me my diagnosis after 3 ½ years of searching and are the ones that then directed me to CHOP because they have one of the world’s top Leukodystrophy Center’s and care for many from around the globe. Although I’ll make trips to Philadelphia, my immediate care will reside in Fort Wayne.
I’ve overheard the doctor’s talking with Mom and Dad and they say things like no-cure, no-treatment, and terminal. I’m not sure what it means but I once heard Dad tell someone on the phone that a life expectancy for children like me is 2 to 8 years of age when symptoms of this disease present in infancy. He also said that sometimes the life expectancy is a tiny bit longer though. Dad also tells people that he’s very proud of me and that I’m the hardest working person he knows. I don’t mean to brag but I think he’s right. I work incredibly hard. I go to 2 Physical Therapies a week, 2 Occupational Therapies a week, Speech Therapy once a week and attend Preschool twice a week where I work on a few more additional things. While I am up to this very taxing schedule, I think Mom and Dad are going to dial it back a bit. I mean, it really is a lot of work.
Now let me say a few words about my hero and favorite person ever; my Mom. I love her more than anything. She (and Dad and Makayla and Matt) has (have) been there to help me from Day 1. She decided to be a 100% Stay-at-Home Mom to make sure I always had a helper. Sometimes I think this drives her a little crazy, though, but she made this decision for me! She not only makes sure that I get to all my appointments on time, but that Makayla and Matt get to where they need to be too. I’ll never understand how she does it all. If ever there was a hero; no, a super hero- it would be my Mom. She’s never failed me and I’m certain she never will. She’s amazing!
The last member of my family is a puppy named Remi that I love to play with. Mom says he’s not so much a puppy anymore though because he’s 10 years old.
Mom and Dad know that from this point on, as my Leukodystrophy advances, the progression will become more aggressive and rapid. My body will continue to deteriorate in the coming years. Additional medical equipment will become increasingly necessary soon to assist Mom with my care. I see Mom and Dad are starting to struggle more as I grow bigger. After all, I do understand what happens around me. I just can’t move very well to help myself and need others like Mom to help me.
I heard Mom say that there is not a lot that is known about Leukodystrophies due mostly to the lack of funds for research efforts. However, there is a doctor at CHOP whose research leads her to believe that while curing or treating this disease is still not possible, she may be about 5 years away from stopping or suspending this disease. That would be an absolute game-changer in mine and kids’ lives like mine. Think about it, the ability to suspend my terminal disease while doctor’s work towards a cure… Wow.
But, I’m 4 and in 5 years, I’ll be almost 9. While this research will probably not benefit me, maybe my visits to CHOP can help doctor’s there help future children like me who are “almost” like their sisters and brothers too.
I’d like to help raise awareness and help raise as much money as possible to help further the research of Leukodystrophies.
A last thank you to everyone for reading this and considering a donation to The Foundation to Fight H-ABC. While modern medicine would say I have a few years left to love and be loved here on this side of heaven, I really have it very good. I have a Mom and Dad and Sister and Brother that love me more than anything. Mom and Dad say I’ve already impacted so many people and changed countless lives for the better. I guess that’s what it’s about, right? It’s not about me but about people; loving on people. Life’s about making that lasting impact and influence in the lives of others so please consider supporting this effort in continuing the research of Leukodystrophy so that one day this disease is not the end of someone’s story but instead just another chapter in a long book.
Thank you and God bless. #MiraclesforMaverick
Meet Caden, a 4 year old from Andover, Minnesota. Caden was diagnosed in 2014, after undergoing tests, procedures, and doctor visits over One and half years. At the time of diagnosis Caden was only one of less than 40 other cases reported. Caden presented his condition with low muscle tone and nystagmus, which didn't give doctors any clear indication of a specific condition. Caden lives with his older brother Colten (6) and his mom and dad. Caden currently has a medical team in Minnesota that over sees his condition containing over 25 Specialists and Therapists to help manage his symptoms. Caden enjoys Elmo, playing cars, reading books, and listening to music. Caden participates in preschool 3 days a week and enjoys playing with his peers. He is extremely social and is always seen with a smile. Caden maybe non-verbal, but his smile says a million words. The families community, family, and friends have provided Caden an amazing support system. To follow Caden's story please visit him at www.cadenmichael.com
Meet Ruby. Ruby is a smart and beautiful 3 year old. When she was born, she weighed 12 lbs and 13 oz. She was rare from the start. When she was diagnosed with H-ABC in May of 2016, A Rare Ruby became her name! When she was just 7 months old and not sitting up independently, a doctor directed us to a neurologist and Ruby started physical therapy. We thought Ruby was just a bit behind because she was so big, she'd catch up! After nine long months of testing, poking and prodding, we received Ruby's H-ABC diagnosis. Ruby finds joy in every day, but we try to make things a little extra special for her. We entered her in a beauty pageant where she won the entire category for 2 year olds. She holds the title for "Tiny Toddler Miss Pennsylvania." Ruby's wish from Make-A-Wish, is being granted in May, and we'll go to Disney! She loves princesses and she loves to swim! Ruby lives at home with her mom and dad. She has a lot of friends! Her team at the Children's hospital of Philadelphia is becoming family, too. Ruby's care is followed at the Leukodystrophy Center for Excellence and she's there at least every 3 months! If you'd like to follow A Rare Ruby too, you can "like" her page in Facebook. Www.facebook.com/rarestruby
Meet Olly. Olly is 4 years old from Andover, Hampshire, England. After a normal pregnancy, Olly was born with no complications, a beautiful baby boy. At 6 months old are concerns increased that Olly wasn’t developing like other babies around him, he couldn’t hold his head, couldn’t roll, etc. Following a referral appointment with a local pediatrician, the medical involvement quickly starting increasing and genetic testing was ongoing in the background. At 2 years old, after a chance genetic test it was confirmed that Olly had a condition called hypermyelination and atrophy of the basal ganglia and cerebellum, H-ABC for short, which is a mutation of the TUBB4A gene. At the time we were told he was only 1 of less than 40 other reported cases worldwide and very little was known about this condition. Olly has a busy life living with his family, mum, dad, older brother Charlie, younger brother Eddie and dog Fudge. He attends special school 5 days a week, where he can enjoy sensory stories, swims in the hydrotherapy pool, visits to the local shops, cooking and much more. Olly loves social interaction and is such a happy boy. He is non-verbal and has been registered blind, but you will always find him smiling and laughing. To follow Olly’s story please visit him on Facebook.com/Oliver’s story with h-abc.
Meet Bethany. Bethany, she is almost 18 and we live in Essex in the UK. She was only diagnosed in 2017 after many years of tests and procedures. Concerns were first raised when she wasn’t able to sit unsupported at the age of 8 months old. She was able to sit up by the age of 11 months but showed other delays like a lack of fine motor skills and was happy to crawl everywhere. She didn’t walk unaided until she was around 2 and a half and even then she had an awkward ataxic gait. She had low muscle tone and delays in speech and had very little spatial awareness. It was thought that she had CP until an MRI at 4 and a half years old showed inflammation within the white matter of her brain. Genetic and metabolic tests and lumbar punctures all drew a blank. Her scan was sent to Dr Van der Knapp In Amsterdam for a second opinion which also drew a blank. It was put down as being due to an event that happened either before, during or just after birth and was thought to be non progressive. Bethany plateaued for a few years but as she grew her mobility deteriorated further. She has always had behavioural issues and is currently functioning at around a 5 year old level. She developed dystonia a few years ago and it has gradually worsened to the point that she has lost the ability to use her right hand. In 2015 she was referred to Great Ormond Street Hospital and an MRI was eventually carried out which showed atrophy of the cerebellum which hadn’t been present at age 4 and a half. A TUBB4A mutation amongst other things were suspected to be the cause and that’s when we got the diagnosis of H-ABC. Bethany is still able to communicate but is hard to understand unless you know her well. Bethany lives at home with Mum and her 21 year old brother Reece. She attends the 6th form of a Special Needs School at present. She has some Physio and hydrotherapy at school and we have a close family who do all they can to support us. Bethany is generally happy although has lots of behavioural issue and gets very frustrated at her limitations. She loves music and her iPad goes everywhere with her !! Please feel free to ask any questions you may have on my Facebook page :- Debbie Crowson (Harlow, Essex). Thanks for reading our story.