Leukodystrophy

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    Hi, my name is mamabear5. I'm here because my 13 month old daughter has severe hypotonia, hypomyelination, and suspected leukodystrophy. We are on a journey to find her diagnosis and learning how to live each day with grief and tons of love.
    #MightyTogether

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    Amber Conn

    Learning to Be Brave as the Parent of a Child With Leukodystrophy

    When my daughter was diagnosed with a rare, neurodegenerative disease in 2015, the old me died. I lost myself in the endless pursuit to save her. I began to dive into the leukodystrophy community to find anything and everything I could to help her. I spent most of my time researching and making phone calls to get Jordyn enrolled in a research study I had heard about at Children’s Hospital of Philadelphia. They had a new Leukodystrophy Center of Excellence that had just opened. We would end up traveling to Philly every year, sometimes multiple times a year for research visits and other procedures. We were not prepared for everything that was to come in the following years. At 2 years old, Jordyn was enrolled in First Steps. She had her first seizure, but it didn’t seem to affect her development. She was crawling, walking, and even battling her dad with lightsabers and keeping her balance. But in the summer of 2018, Jordyn had a horrible seizure that lasted nearly 30 minutes. She hasn’t been the same since. She kept getting sick after that and got pneumonia and the flu the following year. She lost her ability to crawl, walk and even sit up on her own. She now struggles to hold her head up and her energy level has dipped way low. She’s still fighting, but the fight has slowed down. We’re no longer running at the pace of a freight train. Five years with this disease has taken its toll on Jordyn and me. She is on seven different medications to battle the symptoms that keep showing up. She has seven specialists that we travel four hours one way to see because that’s the closest place we could find a specialist for her disease. We have six pieces of medical equipment that help her move through her day and are working on installing a chair lift for the stairs in our house. I’ve gotten really good at harnessing my grief. Looking back, I guess I’ve always been that way. I was taught to be tough, to hide my tears and suck it up. It takes a lot of energy to suppress the emotions a mother feels when she knows that only a miracle will keep her daughter from dying. I only let that thought slip in long enough to get back to the fight — to remind myself what it is we’re fighting for when things start to become too difficult. The truth is, though, sometimes I just want to scream. When people ask “how are you?” Or “how is Jordyn?” I just want to tell them the truth. I’m tired of saying “good” or comparing her to other kids who are doing worse, as if comparing her makes things better. It’s the lie I tell myself so I can keep moving forward. The truth is that she’s not doing well. She’s “healthy” in that she doesn’t have a cold, the flu, or something similar, but she’s far from healthy. She’s losing skills at what seems like a rapid rate and it’s almost more than I can bear. Until we can find a cure or a treatment to slow progression, she’s in a sense dying. I’ve never so much as whispered those words because the pain is unbearable. The grief is more than I can handle and I’m not OK. I’m clinging to the time I have with her. I’m taking all the pictures and videos to remember these moments. I stare at her while she sleeps so that I never forget that image, that peacefulness on her face. Hug your babies tight and appreciate them for every little thing they can do. Be in the moment and try to give them grace when they make a mistake. Check on your friends and loved ones. You never know the internal battles they are facing. Embrace who you are and don’t be afraid to ask for help. It’s not a sign of weakness, but rather, a sign of bravery. ❤

    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.

    Maria Kefalas

    Experiencing Grief After Receiving a Leukodystrophy Diagnosis

    The minute you learn your child has a diagnosis of a terminal illness, you die too. You are not literally dying. It is a psychic and emotional death since your old life has come to an end, and the person you were must cease to exist. That is why the weeks and months after learning your child has a disease like leukodystrophy are so excruciatingly painful. People will call on you to be brave and hold in your feelings and cry in the shower, but this is just absurd. In time, you realize that what you experienced as a death was you grieving your hopes and dreams for the life you dreamed of having with your child. You will be tempted to live in the past and relive the times when your life seemed perfect and your child was fine. But, to survive the death of your old life, you will learn that visits to the past must be brief because you will lose yourself if you can’t let go of your old life. And in the weeks or months after you thought you died, there will be moments where you find that the crippling pain has become a more managed, throbbing pain. The moments will grow to hours and then eventually days and even weeks before that excruciating pain that kept you in bed for days returns. Eventually, you might even be able to find pleasure in the things that you once enjoyed – like taking a walk or listening to music or going to work. But, it might be so tempting to find other, less healthy ways to cope, and shut yourself off from the people who love you because all you want to do is allow the grief and pain to swallow you whole. You must fight against that sort of self-destructive despair and ask for help when it falls upon you. You will start to get better when you realize that the grief and death of the person you were is actually a metamorphosis. You are not gone, just becoming a new sort of person. This new person will be so different than who you were. This new person may find the person you used to be silly and ungrateful and foolish. This new person will be much tougher and wiser and more humble than the earlier version of yourself. You see, from my perspective, the thing about suffering and pain is that it makes us truly human. And when we can understand what it means to be human, when we see the greater meaning in life. It is only then we can do the things that would have seemed impossible to that person you used to be. You see, after a while, you come to see that while you may have never considered this life for you and your family, your love for your child is not a weakness. Your love for your child is a superhuman force; it is the only thing that can never be conquered. And once you become this new person who understands that the only thing that matters is being there for your child, being sure your child knows they are loved. Knowing this makes your life so clear and pure because it is absolutely de-cluttered of distractions. This new person also knows that living with this disease does not require going to battle, but finding a way to be grateful for what is possible. To survive, and to thrive, you must now live with no future or past. This new person will see that some days a good day is going to the pool and swimming, another day, a good day is being able to snuggle and watch a movie. And the best days of all might be the ones where you get discharged from the hospital and eat a dinner at home. So many people you know, and the person you were, will find your new life frightening and terrible, but you will feel sorry for the people who cannot see the beauty of your child and don’t understand the power of love. It is not true that things get better or easier, so much as this new version of yourself gets forged in the fires of adversity. Only the people who have not been touched by this suffering will call you extraordinary and say ignorant things like “I could never do this if I had a child like this.” It will astound you that even as life gets harder and this disease may progress, you will be able to find happiness – and even perfection- in things you hardly noticed before. You might even feel sorry for the people who worry about things like a promotion at work or whether their child got on the basketball team. You might become trapped in the paradox that you despise this life-limiting disease and you don’t want your child to be sick. At the same time, how could you ever be that person you used to be? For more information on leukodystrophy, visit The Calliope Foundation. Maria shares more of her story in her upcoming book, Harnessing Grief: A Mother’s Quest for Meaning and Miracles

    Allyson Buck

    Managing Your Child's Rare Disease Through the COVID-19 Pandemic

    We have been in strict social isolation now for 157 days. My husband is working full-time at home and I am working part-time. Our three kids, ages 14, 12 and 9 are home with us. Our youngest son lives with a rare brain disease called vanishing white matter disease (VWM). He can’t stand, walk or move on his own; he needs help with absolutely every task. We have no home help. His disease causes a loss of white matter, and therefore a loss of motor control, in reaction to stress. This means a fever or minor bump on the head could kill Sam. We live every single second of every single day knowing that it could be our last with him. Obviously, because of Sam’s disease we are in the “high-risk” covid category, and have to be especially careful with social distancing. Sounds difficult right? Some may think we should be counting the seconds until we can send our kids back to school, but we are not. Why? Because this life is very similar to our normal life. So much so, that it feels like we have been in training for something just like this for seven years. For many, social isolation has meant: You live with constant uncertainty. We have lived with constant uncertainty every second of every day for seven years — seven years of  waiting for the ball to drop, wondering if today will be the last with our son. We learned long ago to only think about what needs to get done that day. We don’t plan ahead if we can avoid it. We book flights a few weeks before we travel, we book our hotel room an hour or two before we arrive at the hotel, we reply to invitations at the very last second. With our son, we just never know what the next day will bring, so we have to take each day as it comes. This has allowed us to enjoy the journey and not worry about what comes next. You fear for the future. We have known for seven years that our son would die before his time. That he will never grow up. We live with an ever-present fear bubbling below the surface. We fear his loss, we fear what will happen to those of us left behind. How would it impact us? Our other kids? Our relationships with friends and relatives? We have no way of knowing, and it is a heavy burden to bear. Our future is one that I dread, not one that I look forward to. During the first year after Sam’s diagnosis, the fear felt like a constant yoke around my neck, an impossible weight that would never be lifted. But over time I learned how to cope. I cope by actively trying not to think about it. Of course this is impossible to do all the time, but I make a conscious effort to live in the now, to try not worry about the things I cannot change in a future that is uncertain. Living in fear is not living, and in order to appreciate every moment we have with our son, we learned how to set that fear aside. Fear of something you can’t control can feel like a waste of effort, one we don’t have the luxury of anymore. You feel like your life is paused. COVID-19 makes you feel like your life is on hold right? Welcome to our world. Our life has been on hold for years. Like many families with physical disabilities, we have had to make very expensive adaptations to our home, meaning a move is not possible. I can’t go back to work outside the home. The constant uncertainty means one parent has to be nearby at all times and my husband travels regularly for work, so I have to be always available for my son. You become reluctant to do anything that will rock the boat, insurance, job flexibility and security are so much more important when your child is sick and disabled. Anything that is at least kind of working doesn’t change. You are together all the time. I remember very clearly the first summer after Sam was diagnosed. It was hell. We were living in England at the time and it was a particularly cold and wet summer. We had no camp or activities, because overnight Sam lost the ability to walk and taking him anywhere became difficult. We were used to being constantly on the go like many families, and suddenly we were home and together all the time. After that first few months, though, it got easier. We really got to know each other; we spent so much time together that we learned how to live with each other and enjoy being together. Now, we are so used to each other that being home all the time hasn’t changed how we interact with or react to each other. Your kids are struggling. Our healthy kids have spent years having to make accomodations for their brother, not being able to do many of the things that most families take for granted. Any out-of-the-house activities have always been very limited because getting Sam out of the house requires a great deal of logistics. They are used to being told no when they want to do something because of this. We really had no idea how this was impacting them and how it would impact them in the future. But Covid-19 has shown us this has built resilience. They are used to not having a routine; they are used to last-minute changes of plans to accommodate their brother. They are used to having to sacrifice what they want for the greater good. They are also used to being self-sufficient. They have learned how to take care of themselves because they have to, because taking care of their brother is a full-time job for me. Of course they are getting tired of being home and miss their friends, but there have been no meltdowns, breakdowns or fighting any more than usual. You are lonely. Loneliness is a constant way of life for me. I feel lonely , even when surrounded by people. In fact, the more people, the lonelier I tend to feel. When your life and priorities and perspective is so different from almost everyone, and you come into contact with that, it is very hard to relate, to find that common ground so necessary for connection. So I feel lonely , except when home with my family or with a small group of close friends that I don’t see often enough. I feel less lonely now than I did pre-quarantine. Large, anonymous events are the ones that I struggle with the most, so COVID-19 did me a favor in cancelling the endless end-of-year events at our kids’ schools this year. Despite all of these things, we are truly happy. Facing our son’s death taught us how to live. Nothing is worse than losing a child. Anything else is minor and something we can handle. Don’t get me wrong, this is not an easy way to live, it is often incredibly difficult (as the whole world has now discovered). I often feel envious of people who have “normal” lives, how they live without the knowledge that one day their world will collapse. Innocence truly is bliss. But this does not mean we are unhappy, it’s exactly the opposite. This knowledge and perspective and change of lifestyle has given us more years of true joy and contentment than we would have had if Sam had not become ill. Does this mean we don’t miss social interaction? Leaving the house? We aren’t bored? No. We feel all of those things. What it means is that we can do anything for as long as we have to and still enjoy it, because the alternative is death. If our son gets coronavirus , it will in all likelihood kill him, if it doesn’t kill him it will probably take what’s left of him away from us and leave us with a shadow of the big personality that is our son. As things are opening up for many, things are not opening up for us. There is still a large segment of the population that is at risk and can’t take any chances. Every time you go to the beach or supermarket or backyard BBQ this summer, think of those who are still not able to risk the lives of their vulnerable loved ones and think about all the people out there who live like this all the time. While many of you won’t have to live through this every day of your life, remember that if you did, like us, you might also find the joy in it. You can follow Allyson’s story of living life fully with a terminally ill child here, and on Facebook, and Instagram and Twitter: @samvsvwm

    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.

    How to Cope With the Grief of Your Child’s Rare Disease Diagnosis

    The minute you learn your child has a diagnosis of a terminal illness, you die too. You are not literally dying. It is a psychic and emotional death since your old life has come to an end, and the person you were must cease to exist. That is why the weeks and months after learning your child has a rare disease like leukodystrophy are so excruciatingly painful. People will call on you to be brave and hold in your feelings and cry in the shower, but this is just absurd. In time, you realize that what you experienced as a death was you grieving your hopes and dreams for the life you dreamed of having with your child. You will be tempted to live in the past and relive the times when your life seemed perfect and your child was fine. But, to survive the death of your old life, you will learn that visits to the past must be brief because you will lose yourself if you can’t let go of your old life. And in the weeks or months after you thought you died, there will be moments where you find that the pain has become a more managed,  throbbing pain. The moments will grow to hours and then eventually days and even weeks before that excruciating pain that kept you in bed for days returns. Eventually, you might even be able to find pleasure in the things that you once enjoyed — like taking a walk or listening to music or going to work. But, it will be so tempting to eat too much, drink too much and shut yourself off from the people who love you because all you want to do is allow the grief and pain to swallow you whole. You must fight against that sort of self-destructive despair and ask for help when it falls upon you. You will start to get better when you realize that the grief and death of the person you were is actually a metamorphosis. You are not gone — you are just becoming a new sort of person. This new person will be so different than who you were. This new person may find the person you used to be silly, ungrateful and foolish. This new person will be much tougher and wiser and more humble than the earlier version of yourself. You see, the thing about suffering and pain is that they make us truly human. And when we can understand what it means to be human, when we see the greater meaning in life, it is only then we can do the things that would have seemed impossible to that person you used to be. You see, after a while, you come to see that while you would never have chosen this life for you and your family, your love for your child is not a weakness. Your love for your child is a superhuman force; it is the only thing that can never be conquered. And once you become this new person who understands that the only thing that matters is being there for your child, being sure your child knows she is loved. Knowing this makes your life so clear and pure because it absolutely de-cluttered of distractions. This new person also knows that living with this disease does not require going to battle, but finding a way to be grateful for what is possible. To survive, and to thrive, you must now live with no future or past. This new person will see that some days a good day is going to the pool and swimming; another day, a good day is being able to snuggle and watch a movie. And the best days of all might be the ones where you get discharged from the hospital and eat a dinner at home. So many people you know, and the person you were, will find your new life frightening and terrible, but you will feel sorry for the people who cannot see the beauty of your child and don’t understand the power of love. It is not true that things get better or easier, so much as this new version of yourself gets forged in the fires of adversity. Only the people who have not been touched by suffering will call you extraordinary and say insensitive things like “I could never do this if I had a child like this.” It will astound you that even as life gets harder and this disease may progress, you will be able to find happiness — and even perfection — in things you hardly noticed before. You will even feel sorry for the people who worry about things like a promotion at work or whether their child got on the basketball team. You will become trapped in the paradox that you hate this disease so very much and you don’t want your child to be sick. At the same time, how could you ever be that person you used to be? Follow this journey at The Calliope Joy Foundation.

    Allyson Buck

    Being a Wheelchair User in Public and Feeling Invisible

    Everyone can recognize wheelchair users. What most people don’t realize is that wheelchair users also have superpowers — the main one being invisibility. This is a strange phenomenon you can only experience when using a wheelchair or when spending time with a wheelchair user. It appears that once a human being sits in a wheelchair, they are no longer visible to other human beings! It is quite remarkable really. My son Sam, who is 9, lives with a very rare brain disease and has not been able to walk or stand for six years. His wheelchair is his only means of getting around. Usually people are kind and helpful when out with a wheelchair user — unless you are waiting in line. Then suddenly, wheelchair users become invisible. This happens more than just occasionally. People literally just step right in front of our son as if he doesn’t exist, as if he is not as important as people whose bodies are able to stand. Recently I took Sam to an arcade. Someone was on the “claw” machine, which Sam wanted to play next, so we stood behind the person playing, waiting for them to finish. Sam was in front and I was behind him holding onto his wheelchair, clearly waiting. Sure enough, two kids come and stand right in front of us. This also happened on a racing game; I parked next to the game to get Sam out of the wheelchair, and by the time I lifted him up someone else was sitting in the driver’s seat. These are not isolated incidents. This happens all the time. It is not just children who do this; adults are just as guilty. It was particularly hard to keep our cool on a trip to Disney. Anyone who has been to Disney knows that you must wait in line — a lot. Almost every time we were waiting in line, someone stood in front of us, and it was usually never children (who didn’t know any better), it was almost always an adult, who should know better, who stood right in from of Sam as if they didn’t see him. We have started to have to put another person in our family in front of Sam to prevent this, or if I’m on my own with Sam, I stand in line and have him next to me instead of in front. This makes it very difficult to push the wheelchair forward, but it is better than constantly having to tap people on the shoulder and explain that Sam too is a human being also waiting in the line. The stranger thing is that most of the time people aren’t even very apologetic. They seem completely unaware they may have done anything wrong. This phenomenon, as far as I can tell, is exclusive to wheelchair users. None of my other friends or family members have experienced this, no matter how young or small they are. It is hard enough just getting around in a wheelchair, so really this just adds insult to injury. A dear friend of mine, who struggled with stage 4 metastatic breast cancer, was planning to take her family to Disney. She knew she would be unable to walk, as she needed a cane for support at the time, so she rented a wheelchair. I warned her of this phenomenon, warned her that she would suddenly become invisible once she sat in that wheelchair. She was incredulous when I told her and really didn’t believe me. Sure enough, when she came back she had experienced the invisibility superpower that comes with wheelchair use firsthand. There is so much to be learned from people with disabilities and about how we need to include them in society. I know this firsthand. My son has taught me more than any other person I have ever met. They often have learned hard lessons when it comes to resilience, determination, patience, and humor in the face of adversity. I honestly can’t figure out why people don’t see wheelchair users. If anything, at the very least, they take up more space than a standing person, and aren’t any shorter in the wheelchair than a child. So why are some of us choosing not to see them? It all really baffles me. Please, see them, look at them, talk to them, acknowledge them as humans with the same wants, needs and rights as you. And please, whatever you do, don’t stand in front of them. Have you experienced people being “unable” to see your child’s wheelchair? What lessons have you learned from it? Let us know in the comments below. Follow Sam’s story on Facebook, Instagram and Twitter

    Susan Deal

    To My Daughter With Leukodystrophy on Your First Birthday

    Dear Adelyn, Oh baby girl, what a year we have had. It’s the eve of your first birthday, and here we sit, ready to spend that special day in the hospital tomorrow, of all places. I’ve got tears in my eyes, but they aren’t for the reasons you might think. I’m not feeling sad we’re in the hospital, and I’m not sad because of the challenges you have faced. No, tonight I’m a mom like every other, and I believe these tears are a bit of a right of passage on first birthdays. My heart explodes with joy and the happy tears flow as I reflect on this past year and wonder how the time has gone by so fast. Just 365 days ago I went to bed with you in my belly, knowing the next day I would hold you in my arms. Nervous anticipation and aching hips kept me awake while I knew I should sleep. Poor me, I had no idea what was coming. I had no idea how your fingers would feel curled around mine. I had no idea how precious it would be to cuddle your warmth in the night, just the two of us, during your night feedings. How you would play with your hair to soothe yourself. How you would belly laugh at our silly voices. How you would calm to any song and try to sing along. How you would love the feel of your hands on daddy’s hair. Or the way you would smile up at me with big wide eyes like I was your world. I didn’t know you would be such a hard working baby, never giving up in your effort to reach new milestones. I didn’t know you would look so cute while sucking your sweet little thumb. Or how it would feel when you bury your head in my shoulder for comfort that only your mommy can give. I had no idea how big my heart could swell. I had no idea how the love of our whole big tribe would grow for you. Yes, poor me. I didn’t know you yet. This has been the best year of my life. Happy birthday, baby. I love you so much, and I can only imagine what I will come to learn and love about you in the next year. You are beautiful. You are perfect. Love,Mama This post was originally published on Let’s Make a Little Deal. We want to hear your story. Become a Mighty contributor here . Getty Images photo via Nadezhda1906

    Susan Deal

    Finding Hope After Defeat and Preparing to Break Down Doors

    Following seizures and an MRI, our daughter was given an early diagnosis of leukodystrophy, a terminal brain disorder. We applied to participate in a study of DNA related to leukodystrophy at CHOP, and had to wait a few weeks for their team to review her MRI and clinical notes from our local hospital before being enrolled in the study. After what felt like an eternity, we finally found out we got into the study! We had prayed for this, our tribe had prayed for this, and we got in. Such joyous news… but it came bittersweet. About two weeks prior, I got a phone call from the contact person with the study. They told me that they were “tentatively” accepting us — but there was a condition. The doctor saw something in the MRI that made her suspicious of a possible misdiagnosis — she thought the white matter abnormalities may have been caused by a virus called CMV.  I could have had it while pregnant, and it has mild flu-like symptoms. This can be tested with a simple blood test, and while it is still brain damage, it is not progressive and not fatal. I don’t know if I cried harder the day we got her diagnosis or after that phone call, all at the thought of the possibility of hope — of a miracle. And so our prayers changed, and we pleaded for this to be true. We started researching, and so many of her symptoms aligned with CMV. I knew this was it… I mean really, truly knew it. We got Adelyn’s blood drawn and started the wait for the results. And we didn’t tell anyone. Because hope is so good, but it’s also pretty damn scary. We got the results about a week later that Adelyn tested negative for CMV. And with that, we were in the study. I was crushed. I felt like I had finally started to find my strength before, and now I was suddenly back to the teeny tiny person I was a month ago. Being in the study was exactly what we thought we wanted. This should have been good news — and it was — but it didn’t bring the elation we expected. I’ve had a lot of people telling me I’m strong lately — but I’m just as strong and as weak as all of us are in times of adversity. In this moment, I was weak. And I was sad. And I was angry. And in my weakness, tiny me yelled to Mike, “ This. This is why I didn’t want to have hope. This is what I was afraid of. It hurts so much. All. Over. Again.” But the crux of it is this — you can’t not have hope. There are risks in having hope, but the risks of losing hope are so much greater. And Mike reminded me that hope is a lot like love. Opening yourself up to it makes you vulnerable, but if you don’t, there is so so much beauty and wonder you will miss out on. Do not be afraid — I am with you! I am your God — let nothing terrify you! I will make you strong and help you; I will protect you and save you. (Isaiah 41:10) And I have to say, the hope I let enter me… it crushed me in the moment, yes, but it also changed me. I’m embarrassed to admit I had taken defeat with our initial diagnosis. Yes, I love her. Yes, I will do anything to help her and protect her. But she has leukodystrophy, and it is progressive, and it is fatal. That’s it. When we told our Pastor the news of her diagnosis and asked for prayers from the church, his response included these words: “We will be sure to celebrate the gift she has been, the gift that she is, and the gift she always will be — leukodystrophy be damned. Nothing will ever change the fact that Adelyn is a beloved child of God.” I was touched at his words, and cried reading them. But I wasn’t quite ready for them yet. Because at the time, leukodystrophy had damned me — not the other way around. I think I needed that moment of “false” hope to remind me I need to have hope. Leukodystrophy only damns me as much as I let it. We decide what controls our lives. We decide what actions to take day in and day out. We decide what thoughts we choose to entertain. And now I’m ready. Leukodystrophy be damned. And as long as we remember that we have the power to control how we react to our own personal plights, we will always win. The outcome doesn’t affect that truth. Maybe she’ll beat the odds, and maybe she won’t, but we will give her the best life imaginable. And we will fight with every ounce of our willpower, and we will think positive thoughts. And in that… We. Will. Win. We will seek new treatments, explore every avenue that is open to us, and find the ones that are closed and break down the doors. I don’t know what the outcome will be. I don’t know what her future — our future — looks like. But I have hope. This post was originally published on Let’s Make a Little Deal. We want to hear your story. Become a Mighty contributor here . Getty Images photo by Andrii Oleksiienko