Michele Levoir Sloan

@michele_levoir_sloan | contributor
I am an advocate for those with Leukodystrophies and am the founder of Foundation to Fight H-ABC. My husband and I started the foundation shortly after our own daughter, Elouise, was diagnosed with H-ABC. Knowing that there are other children and families out there experiencing the same unknowns as us and that there is currently no known cure is what drove us to action. Watching your own child deteriorate right before your eyes is a pain no parent should ever have to experience. But together, we can make a difference in the lives of families across the globe by giving children with H-ABC and other Leukodystrophies a fighting chance. Our foundation's mission, as well as my goal as an advocate and mother, is to raise awareness about rare diseases such as H-ABC and Leukodystrophies, and fund research towards finding a cure, one that these children so desperately need!

How My Daughter Made Me Into an H-ABC Leukodystrophy Expert

When we first heard of H-ABC leukodystrophy, there was very little data available. In fact, although the condition had been under investigation in Europe, it wasn’t until 2014 that the gene causing the defect was identified in the U.S. However, Elouise had symptoms that were progressing for many years before we finally received the diagnosis (which happened when she was 8 years old). At around age 3, Elouise began showing signs that something wasn’t right. She had balance issues, would often fall over, and experienced speech delays. After she started pulling up her right arm when running, a professional from the county’s Infants and Toddlers Program suggested we get an MRI, which confirmed the undersized cerebellum and the delayed myelination. An Endless Journey of Test After Test Prior to her diagnosis, we had gone through every test imaginable, including: ● Heart tests● Lung tests● MRIs (which showed lack of myelination)● Motion testing No one had answers, which is apparently not uncommon for many neurologic conditions. Therefore, some doctors gave generic diagnoses such as cerebral palsy. Others suggested conditions like ataxia that were tied to her symptoms. One doctor even wanted to take a biopsy of her muscles and send it away for testing. At that point, we said she had been through enough. She had so many blood tests done. Then, finally, a genetic doctor suggested performing genome sequencing, which is when they discovered she had the TUBB4A gene defect — otherwise referred to as hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). The Quest for Information on H-ABC Leukodystrophy When we started researching the condition, we found only one or two references online at that time. Thankfully, there is much more data available now. Once we received Elouise’s diagnosis, we were very worried and frankly didn’t know what this meant for her future, as the doctors were telling us she wouldn’t live into adulthood. After several months of shock, we decided to take matters into our own hands and get the word out. We created the nonprofit to help raise awareness and funds to assist with the research that was already underway. Although it’s been a difficult journey, I’m grateful that I can now help other families. Parents are often the best resource experience-wise, and those of us within the H-ABC community strive to offer one another as much support, education and comfort as possible. I often receive questions from folks whose children have recently been diagnosed with the condition and want to learn more. I’m glad that I’m able to direct those who have questions to our own website and the CHOP (Children’s Hospital of Philadelphia) website so they can educate themselves about the condition, what treatments are available to help with symptoms, and what work is being done in finding a cure. CHOP in particular is very responsive in helping families who are affected by H-ABC leukodystrophy, even those who are located overseas. We are not going to give up and let H-ABC leukodystrophy get the better of us. Learn more at Foundation to Fight H-ABC.

Finding Hope When Parenting a Child With H-ABC

From an outside perspective, it would seem that our situation, in terms of parenting and caring for a child who’s sick, is very difficult. However, the truth is that this didn’t happen overnight. Like anything else that is handed to you in life, there is a process you go through: First, you react to the issue.Then, you adjust your life accordingly.Then, a “new normal” ensues. Focusing on What Really Matters Over the years, we have adjusted our life to meet our child’s needs and adapt to her condition. Our priorities used to be our work, our social life, our athletic activities, our family and our church. Now, however, our top priority and focus is mainly Elouise—maintaining her health, keeping her active, and showing her everything we can in life given her limitations. For me that is my mission: to keep my daughter healthy and happy. Coping During the Hard Times When times have been tough, it has usually been tied to the progression of her condition—specifically when surgery has been required. Elouise has done very well in each case. Outside of her condition, she is very healthy overall, especially since she doesn’t have some of the more chronic internal or neurological issues that, on an ongoing basis, can be extremely difficult to manage. As parents of kids with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), we have come together in support of one another and have provided each other with amazing resources to help. We’re able to relate with each other, as we understand the struggles that go along with parenting a child with a rare genetic condition. Moreover, we take every opportunity to learn from one another and share information. At this point, we as the parents probably know more about this condition than the medical professionals do. Taking on an Important Mission In between our focus on Elouise, we are working on trying to figure out ways to expand our foundation’s presence so we can help find a cure, get more attention, and gain national recognition. In many ways, this endeavor is somewhat therapeutic. I have found there to be so much kindness in this world—in many cases, from people we don’t even know! The number of people who have come forward wanting to help in some way is surprising and truly inspirational. Holding on to Hope Lastly, parenting a child who’s sick — especially one who has a rare disease — requires hope. And my hope comes from a higher power. One thing we have come to learn is that you just don’t know what might happen, who might come forward, and how that could help. We cannot do that without getting the word out and drawing attention to the disease. Don’t get me wrong, there are days that are dark, and not one day goes by without me wondering what is in store for Elouise and our family. But if you allow that to get the better of you, then you could be losing sight of the good things that can happen. So if you’re parenting a child who’s sick, try not to give up. Have hope. Have faith.

Community Voices

Hello fellow zebras!

As a new contributor to The Mighty I wanted to introduce myself and get to know you all <3 i="" am="" an="" advocate="" for="" those="" with="" leukodystrophies="" and="" the="" founder="" of="" foundation="" to="" fight="" h-abc.="" my="" husband="" started="" shortly="" after="" our="" own="" daughter,="" elouise,="" was="" diagnosed="" knowing="" that="" there="" are="" other="" children="" families="" out="" experiencing="" same="" unknowns="" as="" us="" is="" currently="" no="" known="" cure="" what="" drove="" action.="" watching="" your="" child="" deteriorate="" right="" before="" eyes="" a="" pain="" parent="" should="" ever="" have="" experience.="" but="" together,="" we="" can="" make="" difference="" in="" lives="" across="" globe="" by="" giving="" h-abc="" fighting="" chance.="" #fighthabc
#RareDisease

Maria Spencer

Teaching Typical Kids How to Interact With Peers With Disabilities

As a parent to my 17-year-old daughter and a disability advocate, I have had the opportunity to speak to many types of groups — many of them with an audience of primarily women and/or moms. I have had a question come up repeatedly from mothers of typically developing children that I feel is so very valuable, and the subject needs to be brought to the surface. Many women have asked me, “When my child sees a child with a disability or difference, what you suggest I tell them when I notice them staring?” Part one of my answer always has to do with how our kids create teachable moments for kids and adults. Not everyone wants to hear this part of the answer. Think about it — teaching someone a new concept or skill takes time, right? Most of these moments are not filled with lengthy conversations — they are nuggets of time that present themselves at unplanned moments. So in order to capture someone’s attention and truly teach them something about your child’s actions, sounds, appearance, etc. that made them look in the first place, you have to be prepared to give an “elevator speech” — a brief, simplified version of your child’s disability story. Strangers don’t usually have time, nor do they want to take the time to listen to details of your child’s birth and day-to-day life. This “elevator speech” should be a general summary of key points you would like to leave the parent with, so hopefully, they will continue the conversation with their child when they leave your presence. And hopefully, you have given them just enough information to answer their child’s questions. Tell your typically developing child it’s OK to ask a question, and talk to them about polite, appropriate questions they could ask the child or their parent. Most typical moms are surprised at this advice. They don’t think we would want to be asked questions — but many of us do. We’d rather take a few minutes to create a teachable moment at the grocery store or park than allow a child to stare and never get their questions answered. Without a chance to learn, their child could become one of the students making fun of our kids at school. None of us want that. Ask questions, be supportive to the parent, and let your kids see the interaction between you so they know it’s OK to talk about children with disabilities in a positive way. If you’re a parent of a child with a disability, I hope you will prepare an “elevator speech” about your child, and visualize yourself interacting positively with typical families. The second part of my answer goes way beyond these short conversations. The more teachable moments parents of typical kids create by asking parents of kids with disabilities respectful questions, the more they are teaching their child to talk to kids with disabilities. Because we allow the conversations to happen as the kids grow, the goal is that they will be more empathetic towards kids in their class who may act, look or walk differently than they do. And maybe they become the children who impact our children in a positive way one day because they were taught that compassion wins. Kind, thoughtful questions and words about children who may learn differently than they do can shape typical children into caring adults, who in turn repeat the cycle. At their school, university, on their job site — everywhere. It all starts with kind, hopeful, two-way conversations. These interactions can lead to friendships that kids with disabilities are longing for. They level the playing field and break down barriers between kids with and without disabilities. They can impact schools and communities in ways that can’t be measured by numbers and data. These conversations take away the fear of the unknown and allow dialogue between families that is so very necessary in the disability community. If you are a parent of typically developing children, my hope is that you will be strong enough in moments that come up with your kids to be brave. Ask questions and model appropriate behaviors and actions toward families of kids with disabilities. So how about it? Next time you’re in the grocery store with your child and you see them looking, teach them to care, not stare.