Amber Conn

@raremomaxd | contributor
My daughter was diagnosed with Alexander disease, a rare neurodegenerative disease, in 2015. Stories on The Mighty help me to express how this journey has affected me. By sharing our journey, I hope to help others in a similar situation.
Community Voices

Compassion

This afternoon, I was doing laundry in the hospital’s Ronald McDonald room. Another mother came in to grab her laundry and we exchanged pleasantries. It was almost as if we understood each other without even knowing each other. You see, when you’ve been at the hospital long enough to be doing laundry, there’s an unspoken understanding. We each know that this road is hard. We understand the simple pleasures in life like being able to do laundry in your own home.  We exchanged stories about our children and learned that our kiddos are only a couple months apart. Her son was in for a genetic bone tumor surgery. She asked about my daughter and wanted to know more. It was nice to share a moment with a total stranger who just gets it. We understood that while our journeys are very different, the support we gave one another in that moment is what gets us through the tough days. You don’t have to know someone to show compassion and understanding. It’s truly the little ways you show you care that mean the most.

#AlexanderDisease

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. ❤

Community Voices

Begging for Time to Stand Still

Last night I learned of another child passing away to Alexander disease, the same rare disease my daughter has. The child was a little younger than Jordyn. He had been admitted to the hospital and tested positive for enterovirus (the common cold) and it turned to pneumonia. Unfortunately, this is how most of our kids pass away. Alexander disease weakens the body’s ability to fight off common infections.

When my daughter was first diagnosed, she ended up having 3 seizures within a 12 hour span which required 2 ambulance calls and 2 ER visits in 12 hours. She had to be flown to St. Louis and was diagnosed with enterovirus. It caused high fevers for her which ultimately caused the seizures. We were fortunate that they didn’t cause any additional harm or time in the hospital, but that was 5 years ago.

A lot has changed with her health and I’m not confident that the outcome would be the same. With every passing year and every child that passes away, I become more and more thankful for the time we have with my daughter. I soak in all the naps and snuggles I can get and am mesmerized by the small things like her soft hands, her long beautiful eyelashes, and her smell. I also become more and more fearful as her health declines.

With every sickness comes added stress as we try to take care of of things at home and avoid a trip to the hospital. It’s a weight that is sometimes too heavy to bear and I know I must give that weight to God.

This morning in church I found myself pleading with God, begging him to save my little girl. I begged him for a cure to this horrible and devastating disease. I prayed that he would give me strength to fight and find a way to save her. I prayed for him to keep his loving hand on my baby girl and to continue to bless us for many more years. I know that only God is in control. He sees the future and only He knows our story from start to finish. I have to trust that God will protect her and give us all strength in the days and years to come.

Amber Conn

Supporting High-Risk Children Who Can't Attend School During COVID-19

Today, my daughter Jordyn received a video of her class waving and saying “hi, Jordyn.” She’s the only one who is homebound out of her class. Tears welled up in my eyes for so many reasons. For one, it was so kind of her teacher to think of her and include her in their class even though she isn’t present. It also got me upset that she was missing out on all the fun. Am I doing the right thing keeping her home? What if she’d go and contract COVID or something else? The outcome would not be good given her other serious health issues. I’m back at work and trying to have as normal of a day as I can, but the worry is always there. I’m extra careful of course, but there’s always a chance I could take something home. The most upsetting thing, though, is the change I’m seeing in Jordyn. Before COVID hit, she was doing well in school. She was happy and I could see a spark in her eyes. Though she couldn’t communicate the best, she fought hard to make her presence known and to be with her peers. She loves school and all her friends. Today, for the first time since her diagnosis, I felt fear for the future. I’ve always been a “glass half full” kind of girl, but watching the light in my daughter’s eyes grow dim slowly over the last few months is almost more than I can bear. She’s exhausted all the time and has no energy to play. She has no desire to do things she once did. She struggles just to sit up and keep her head up and even her voice has gotten softer and often hard to hear. I know she’s a fighter and only God knows her path, but my momma heart is breaking watching her struggle so much. I just want to take all the pain away and bear it myself. I want her to feel joy and laughter and to be able to see the world around her again. I want things to come easy for her just once! I want that spark to return. Tomorrow is never promised. I’m snuggling a little longer, hugging a little more, giving all the kisses, and holding on tight to today. ❤️

Amber Conn

What Grief 'Looks' Like When Your Child Is Medically Complex

Grief is a very real, raw thing. It can look like many things. It may be the mom who is struggling to keep it together at work, sneaking away to cry in the bathroom during breaks.  It may be the dad who goes through his day without any direction because he knows there’s nothing he can do. It may be the parents who appear the strongest who are grieving the hardest. Grief can happen at any time in life. You don’t have to have a death in the family to know grief. I know grief all too well and I struggle with it every single day. The moment we heard the words “Alexander disease” and “three-to-five-year life expectancy,” I began grieving. I grieve for my child, who was at one point healthy, vibrant, and full of life. I grieve for the life we dreamed of having — watching our child play sports and having play dates like typical kids. I grieve because my daughter is of the age where she’s beginning to understand her limitations. I’ve seen firsthand how other children see her differences. She is already being alienated because of them. Her cousin, who is 10 months younger, knows she’s different and it’s hard for her to understand. Jordyn knows she is different than other kids her age and it upsets her. Sometimes it hurts me to hear other kids comment “Why does she wear braces?” “Why does she walk like that?” “Why can’t she talk?” “Why does she wear diapers?” I know they are harmless questions, but it still hurts. It devastates me inside, seeing Jordyn struggle so much. She hates that she cannot walk like she used to. She’s very aware of her limitations. She cries often because she can’t do anything to “fix” it. I cry often for the same reason. She is still having multiple seizures a day. She loses her balance and falls. She has bruises all over her face most of the time. She can’t crawl without losing her balance and hitting her head on the floor. It’s unbearable for me inside, when she’s crying because she’s thrown up yet another tube feeding. The pain in her eyes, the desperation in her cry. It’s all too much to handle sometimes. Yet, as her advocate and mother I have to push forward. There’s no other choice. She has to see that I believe in her. She has to know there’s hope. She has to know that she has a large support system lifting her up. So, we press forward. We deal with each symptom as it comes. We lose sleep, we pray, we cry, we hug. We yell, we fight, we get angry and we start all over again the next day. Life is hard. We are nearly three years in and it hasn’t gotten any easier. It most likely will only get harder. That is our reality. All we can do is push, fight, pray, and love like there’s no tomorrow.

Amber Conn

Feeling Isolated When Parenting a Child With Alexander Disease

In an attempt to educate others, I’m going to be very real and honest. I’ve been parenting a child with a terminal illness for nearly four years now. People assume I’ve got it down pat. No one (besides my parents) calls or texts to check on me anymore. Jordyn’s diagnosis is “old news” to others. I get it. It’s the way of the world. The initial shock has worn off. However, I think I can speak for other families when I say that our children’s diagnoses will never be “old news.” The shock will never wear off for us. Friends and outsiders are able to pick up and move on, but our daily struggles continue. Our kids struggle every day. We have good days, but we also have bad days and need support. We began this journey in 2015 with the diagnosis of Alexander disease. We haven’t been the same since. We have aged well beyond our years. I struggle with bouts of anxiety and depression and there are days when medication no longer helps. Sometimes I feel there is a constant cloud over even our best days. I think people are scared to reach out. Since Jordyn was diagnosed, friends that I once had are afraid to reach out – they might fear they are bothering me (never), think that I’m too busy to talk (on the contrary, I need the conversation), or fear that the discussion will turn to negative thoughts (which might be very likely to occur because life isn’t easy). In reality, I need more people to reach out. Yes, I’m busy, but it’s important to me to know that people care — that we haven’t been forgotten. Our struggles, just like everyone else’s, are never over. We need all the love and support we can get as Jordyn gets older and her health declines. It’s not something I like to admit, but it’s inevitable with this disease. Until there is a cure, her health is unlikely to improve. The progression may be slow (we can at least pray for that), but it’s always there like a silent shadow. I never try to sugarcoat things. I believe the only way we can teach compassion is to help people understand our trials. It’s the only way we can truly get a sense of how to help each other. My hope is to educate others about this disease and help them understand that Jordyn fights big battles every day. It’s important that we never forget what each of us is going through. We need to try and lift each other up instead.

Amber Conn

Our Journey With a Rare Disease

What would you do if you were told your child had a rare disease? That this disease has no cure and will likely take your child’s life in three to five years? This is precisely what happened to my husband and I a little over two years ago. Our daughter, Jordyn, was born healthy. She always met milestones within normal range. It wasn’t until her first birthday that we thought something might be wrong. She developed tremors and was still primarily crawling as her mode of transportation. The tremors became so bad that even crawling became difficult. She began losing skills she once had. She was tested through our state’s early intervention program and had many delays in gross motor development and speech. We had an EEG done that came back normal and an MRI shortly after. The MRI showed abnormalities of the white brain matter. I still remember the day. We were sitting in a small room with Dr. Smyser as he was showing us the MRI results. He was going over what the pictures meant and the only thing I can remember is her white matter was too bright at the top and too dark at the bottom (or something like that). He said it was most likely Leukodystrophy. I was in shock, too stunned to cry. I just felt numb. The white matter specialist was grim. She told us we should hope for the best, but prepare for the worst. She said based on her previous experience, we had approximately three to five years left with our baby girl. Genetic testing came next. They tested for Alexander disease because they were certain that’s what it was. I can still remember the moment I received the call. Jordyn and I were arriving at my cousin’s wedding around 6:45 pm on a Friday night. Her neurologist called and confirmed the positive results. All she could offer was an “I’m sorry.” I had little time to process it before I had to pick myself up and act happy for the new bride and groom. I parked the car and proceeded to bawl. Thankfully, Jordyn was too young to understand. I cried the hardest I’ve ever cried in my life. My mom came out and we just embraced each other. It was the first moment in this process I felt there were answers: the truth was out and there was no turning back. Now what to do from here? Her local neurologists offered little in way of a plan. They said “wait and see” if she deteriorates. “You can do therapy” they said, so therapy we did. We got Jordyn into as much therapy as she could handle and we could afford. I searched all over the internet to learn more and find some support groups. I came across a Leukodystrophy page and Alexander disease page where I met a woman named Jenny who was the co-founder of an organization called “Elise’s Corner.” We became close friends and she told me about a research study that had just begun in Philadelphia. She said, “You have to go.”  We had an appointment two months later. Jordyn was (I believe) the second or third person seen in the study. Dr. Waldman and the Leukodystrophy team at CHOP gave us the hope no one else had. They gave us a long term plan to treat and try to save our baby girl. They assured us they are working tirelessly to find a cure and won’t stop until they have done so. Meeting Jenny and Dr. Waldman changed our lives. They gave me the push I need to continue fighting for not only Jordyn, but all the other children with Leukodystrophies. Currently, Jordyn hasn’t yet begun to show signs of regression. I know not every child is as fortunate, but we are all a family in this journey. I may not be able to save every child, but I’m going to do all I can to make a difference. I owe it to these children who have so much life yet to live and who continue to fight big and little battles every day. Follow this journey at The Best Is Yet to Come. We want to hear your story. Become a Mighty contributor here . Getty image by Pimonova

Amber Conn

Parenting a Child With a Terminal Illness

I’ve shared several times about how busy we are and how much of a mess I am, but the truth is, it’s so much more complicated than that. I’m usually very positive and, truthfully, it’s exhausting. Some days I fake a smile just to get through. No one understands the pain of raising a child with a terminal illness unless you are there too or have lost a child yourself. It’s full of ups and downs. The ups are so high but the downs are so low. There’s no real happy medium. The “happy” medium is a numbness I can’t escape. It’s every day. The best picture I can paint is I feel as if I can’t swim and I dive in the water to save someone drowning only to find myself drowning, too. I can’t yell out for help even though there are many people standing around the pool who could help me. Nothing can possibly take away the pain I feel when I look into my daughter’s eyes knowing if nothing is done, I may never get to watch her walk down the aisle. I may never get to see her go on her first date or play sports that all the other kids her age are doing. We’ve built our lives around the uncertainty that is tomorrow and we live very much day by day. There are no plans made beyond a week’s time because, the truth is, we don’t know where we’re going. We grasp onto the hope that a cure is coming, but that’s all it is: hope. Faith keeps me pushing forward even though I feel as if I’m drowning. Trying to keep everything organized is becoming more and more of a task with every additional specialist we add to the never ending list of doctors, therapists and specialists we see. We are running constantly to therapies and doctor’s appointments instead of games and fun get-togethers with friends. I am envious of those who have kids running and playing sports. I’d much rather be taking Jordyn to games than therapy. I’d much rather see her running alongside her peers instead of struggling to keep up. I pray that one day Jordyn finds someone who will walk alongside her and wait for her. I pray she’ll find someone to lean on who will understand all she’s gone through to be this far. I pray that some day there will be a cure and we can begin to plan and look ahead to the future. Follow this journey at The Best Is Yet to Come. We want to hear your story. Become a Mighty contributor here . Getty image by Grandfailure