My name is Emma and I have three children, Livia, 13 years old, Leo, 11 years old, and Elias, 9 years old. My husband’s name is Stephen and we’ve been married for almost 16 years. Wow! Time flies when you’re having fun! We live a little north of Cincinnati, and we’ve lived here for ten years. I grew up in Sweden, but Stephen is from here. Together, we have lived in both our countries. Livia and Leo were born in Sweden, and Elias was born here.
Elias was diagnosed with krabbe disease when he was 8 months old. Krabbe is very rare, I don’t expect that you’ve heard of it before, I sure hadn’t until Elias was diagnosed. Krabbe is a degenerative, neurological, genetic disease that affects the white matter of the brain, and the nervous system. Based on his age at the time of onset, and how fast the disease was progressing, we were told that he wouldn’t live past his second birthday. We were devastated. It took me a while to identify as a “special needs mom.” Children with special needs were nothing new to me. I started working as an 18 year old at a respite home for children with disabilities, and I also have family members with special needs. I was so focused on his limited time here on earth, and the fact that he developed normally for the first five months, I didn’t see him as having special needs. I saw him as terminally ill, and I was fighting an impossible war, trying to keep him alive. Eventually things settled down, and I realized that now I was one of them, a special needs mom. I often wondered what it would be like to be one of the mothers, whose children I was taking care of, and now I know! Let me tell you, it’s not what I expected. There is nothing that makes me more proud than pushing Elias’s wheelchair, and being his, and Livia and Leo’s mom!
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Miggy: Hi Emma, thank you so much for being here today and talking about your son Elias and your special needs journey. First, can you take me back to when you first knew Elias would have special needs? What were the initial signs and symptoms and how long did it take you to get a diagnosis? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Emma: The moment that pops into mind, is when his PT wanted to try Elias in a wheelchair. He was about 7 months at the time, and this is before we had a diagnosis. I was so confused. I remember asking the PT, “He’s only 7 months old, he’s not supposed to be walking yet. Why does he need a wheelchair?” She was obviously more experienced than me, and she knew that whatever was causing his recent delays, would affect him for the rest of his life. She explained that he needed something that would support his core better than a regular stroller, whether he would be able to walk, or not in the future. At that moment it all sank in. Elias would never walk, and I was so worried about what other problems might show up.
Looking back at that moment, little did I know that things were about to get a lot worse. Elias was perfectly healthy as a newborn. The first few months were great, as we settled into our lives with 3 children. When Elias was about 5 months old, his development slowed down, and his muscles seemed weak. I made an appointment with our pediatrician, and thankfully she took my concerns seriously right away. She said he had hypotonia, low muscle tone, and sent us to PT. The PT knew right away that something was very wrong, she referred us to neurology. It took about 2 months before we finally got to see the neurologist. During that time, Elias’s symptoms had become even worse. He was regressing. Things that he used to do, he was not able to do anymore. It was such a scary time of our lives, and nothing could have prepared me for what was to come. The neurologist talked to us for about an hour, and he had a very concerned look on his face. He told us that he thought Elias had one of the leukodystrophies. You’re probably thinking “leuko… what??” And so were we. He explained that it’s a disease that affects the white matter of the brain, there’s no cure or treatment, and he said it was very serious. When he said the word “serious”, it felt like a death sentence had been placed on my son. I was bawling. We had to come back for more testing to decide which leukodystrophy Elias had, and by now everything was moving quickly. A few weeks later we were told that Elias had krabbe, he was about 8 months old at the time. In some ways I felt relieved to have a diagnosis, but at the same time I so wished for another diagnosis. I had never heard of such a horrible disease before and I felt devastated, it hurt to breathe. My perfectly beautiful son was going to regress to a state of a newborn, loose the control of his muscles, loose his ability to eat, suffer seizures, lose the ability to laugh and smile, become blind and deaf, and then pass away before the age of two. It was too much to bear. The only consolation at the time, were my three children. They kept me going and they kept me strong. Children are resilient and they don’t slow down. I had to get up every morning and try my best to keep up with them.
I feel very different now, compared to when Elias was younger. Life has slowed down, and I guess I feel a lot more hopeful. I know I can’t change the outcome of krabbe, one day I will lose Elias, but I try not to let that take over our lives. Elias is here right now, and he is very much alive. I feel so thankful that I get to spend every day with him, and I don’t want to ruin his short life with my own grief. I want him to feel loved, I want him to be comfortable, I want him to learn things, I want him to play and have fun, I want him to have friends, and thankfully, many of the things that I want for him, we have been able to accomplish. Actually living with a child with krabbe is very different than reading about it in some medical publication. They fail to tell you about the love that is stronger than anything, and they don’t tell you about the sweet moments that will stay with you forever. And Elias is not in a “vegetative state”, and he’s not blind or deaf either!
Miggy: Elias has been diagnosed with krabbe disease. Can you educate us about Krabbe disease and explain how Elias’s needs affect your day-to-day life?
Emma: Krabbe is caused by an enzyme deficiency. The enzyme is called GALC, and it’s supposed to break down toxins that muscles produce when we move. The toxins remain in the body and they start breaking down the myelin sheet that surrounds nerves and the brain. The onset of krabbe can happen at different times, depending on how much enzyme you were born with. This is why Elias didn’t have any symptoms at first, he had enough enzyme to develop normally for the first few months. The most common form is early infantile. The first symptoms for these babies are irritability and feeding issues. Krabbe is very rare, 1 out of 100,000 are affected. It’s genetic, both parents have to be carriers. There’s a 25% risk with each pregnancy that the child will have krabbe.
Elias’s needs affect everything we do. He’s in a wheelchair and he can’t move much. He has a feeding tube, and he’s on a vent, but he doesn’t have a trach, we use a bi-pap mask instead. We use a CPT vest, cough assist and suctioning machine several times a day, to help keep his lungs clear. Since he can’t move, we have to help him with everything from dressing him, to playing with him. We move his arms and legs to prevent his muscles from becoming stiff, and we use foot braces and hand splints. He takes a lot of medicines, four times a day. We are constantly monitoring him for seizures. And then there’s all the appointments… Sometimes I feel like we get nothing done around here, but reading this back to myself, I can see why! It all takes a lot of time! We have night nurses every night so that we can sleep. We used to have day time nursing as well, but I went to nursing school to get my LPN degree, and now I work as his nurse. Even with all of this stuff, we try, as much as we can, to go about our day like anyone else. Elias goes to school two days a week, and he also gets home instruction. In the fall he joined a baseball league, and we’re planning on signing him up for the spring session, it was so much fun! Family time is very important to us, and we all love getting out of the house. We always enjoy visiting the zoo, going to the park, taking walks around the neighborhood, going to the movies, visiting the museum, hanging out with friends and family. Thankfully we have a modified van, which makes our outings so much easier!
Miggy: What are the biggest worries you face for Elias?
Emma: I think it all comes down to communication. Since Elias can’t talk or sign, it’s really hard for him to communicate with anyone. I feel like I’m pretty good at picking up on his subtleties but I would love to know more about him. I also would love for others to know how he’s feeling and what he thinks. I want to know if he’s bored or if he’s in pain, or maybe he’s uncomfortable. If he could communicate better, I wouldn’t have to worry about his needs and thoughts, since he could tell me.
I used to worry a lot about Elias’s health, and about everything that could go wrong. I was fearful of a lot of things, but a lot of my worries never came true. I think I was justified in my worries, when you have a child as medically complicated as Elias, you have reason to worry. It’s almost like you have to make a choice. Either you can sit around and worry all the time or you can try to experience things together as a family. These days I try not to worry too much, but I take the day as it comes. I remember thinking that when Elias would become dependent on oxygen, we could never leave the house. Now we leave the house with a lot more equipment than O2, and usually we still feel pretty relaxed about it. I also thought that Elias would never be able to fly on an airplane, specifically to visit family in Sweden. This past summer, we finally were able to go to Sweden. I had a lot of worries before the trip, but I wasted my time worrying, because everything went perfect!
Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Emma: We have a lot of fun, and we laugh a lot, something that I thought wasn’t possible when Elias first was diagnosed. I can’t think of any laugh out loud situations, but here are a few funny stories that always puts a smile on my face.
We were packing everyone into the van, after a trip to the YMCA. Stephen and I made a comment about how well everything went, and how fast we were getting everyone in the van. I put the van into reverse and started backing up. I could feel how I bumped into something, but I didn’t think much of it. I stepped on the gas a little harder, and this time we all felt a big thump under the car. As we got out and looked under the van, we saw Elias’s suctioning machine! I ran his suctioning machine over! Miraculously the machine itself was fine, but the case was torn up. Even the RT got a giggle out of that!
Elias and I were at Children’s Hospital for a sleep study. The nurse who was registering us, was asking all the usual questions. One of the questions were “Can Elias move at all?” Elias doesn’t move much, but sometimes he moves his arms up and down. He does this at random times, or at least so I thought. I didn’t feel like going in to this long explanation with the nurse. Sometimes I feel like people don’t believe me when I tell them the things he can do. So I answered “no, he can’t move.” At that moment Elias picked up both of his arms and lifted them as high as he could. The nurse and I looked over at him and started laughing. He totally made a liar out of me! Another funny thing that happened recently, was when Leo wanted some chocolate milk from the fridge. The milk was in a pitcher similar to the one we use for Elias’s formula. He poured himself a big glass and took a mouthful, and quickly realized his mistake. He got a taste of Compleat pediatric enteral formula, and he said it did not taste good!
Miggy: I know what it’s like to have a child with visible differences and the unique challenges that come with visible differences. How can people best approach or respond to Elias? Is there something you wish other people knew so as to avoid awkward or hurtful situations?
Emma: I understand that it is very intimidating to approach Elias. Everything is different about him, but I guarantee that if you take the time to interact with someone like him, you will walk away feeling so rewarded. I think you should approach him like you would any other nine year old, with a few tweaks. Acknowledge him, and talk to him, touch his hand to get his attention. His responses are a bit delayed, so wait a few seconds, and then he will start moving his lips, as if talking, and his eye lashes start fluttering. It’s the most amazing feeling, and I love when he interacts with people in this way. Of course, this is what he does with people that he knows. I wouldn’t expect a stranger to do this, that would be awkward.
We do get a lot of stares and comments from strangers, and usually it doesn’t bother me too much. Some days I feel like I want to share with the whole world everything that has happened to Elias, and what a strong and amazing boy he is. Other days I just want to be able to walk down the aisles of Target with my son, and mind my own business. I wish adults would be respectful, and kind. Keep in mind that it could just as easily have been you. Don’t pity us, don’t glorify us, we’re just a normal family trying to handle a difficult situation the best we can. Don’t tell me how blessed you are because your children are healthy. That makes me feel like you think that I’m not blessed. When it comes to children, let them ask questions, don’t make them feel bad for being curious. We’re all just trying to learn something, and if they can learn something from asking about Elias, let them. Have conversations with them about how we are all different from each other, and that’s okay. Some people have glasses, some people have asthma, some people can’t walk. I bet they can think of ways that they are different from their friends and how that makes them unique.
Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other children and their relationship to Elias?
Emma: I’m so, so proud of them, and the people they are becoming. They have so much patience when it comes to Elias, and his needs. I know they will never take anything for granted. Livia is very philosophical when it comes to her brother. She blows me away with her thoughts about him, and what it all means, and why these things happen. She always stands up for Elias, and questions things that she doesn’t think is right for anyone with special needs. She is definitely a budding advocate herself! Leo is more practical in his relationship to Elias. He likes to involve him in his games, and he loves to show him his legos and his dinosaurs. He’s very thoughtful and likes to be close to him.
Miggy: If you could say something to the mom who just found out their child was diagnosed with Krabbe disease, what would you say? What would you say to yourself if you could go back in time? What is the biggest lesson you’ve learned since becoming a special needs mom?
Emma: I would tell that mom, and myself, it will be ok. I know I wouldn’t have believed it, but looking back at these years with Elias, that’s how I feel. Surround yourself with people that care about you. It’s ok to have bad days, and it’s also ok to have good days. Enjoy every moment with your child. There will be many ups and downs, and you will learn so much about yourself, and the love and the strength that you have within. Take care of yourself. It won’t be easy, but it will be ok.
There are so many lessons that I have learned… I don’t know which one is the biggest. I guess the thing that comes to mind is just how strong love can be. The love that I share with Elias is unlike anything that I have ever experienced, it’s hard to put into words. Looking into his beautiful eyes, I don’t see pain, suffering or weakness. I see strength, beauty, resilience, and love. It makes me feel at peace, and strong, like I could do anything. We’ve also experienced so much love and kindness from family, friends, and sometimes even strangers. I don’t think we ever would have experienced that kind of love if it wasn’t for Elias. A lot of times I feel like his special needs bring out the best in people. I don’t think I used to see the world so full of love.
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I probably should have warned you to grab some tissues for this one… that was amazing Emma! Thank you so much for sharing your sweet Elias, your wonderful family and your incredible insight with us. I loved so much of what you had to say I don’t know where to start, but this really stands out: “I guess the thing that comes to mind is just how strong love can be. The love that I share with Elias is unlike anything that I have ever experienced, it’s hard to put into words. Looking into his beautiful eyes, I don’t see pain, suffering or weakness. I see strength, beauty, resilience and love.” YES. That. I couldn’t have said it better myself. Thank you so much for all your words and your truly amazing perspective. Please give Elias a big hug from me–and maybe we’ll be lucky enough to run into you in Cincinnati!
This one is definitely going to be a spotlight I read again and again. As always, if you or someone you know would like to be a part of the special needs spotlight series please email me at thislittlemiggy at gmail dot com.
Have a great weekend!
XO,
Miggy
Everyone should read this. Beautiful.
thank you for sharing your beautiful family x
Amazing spotlight.
"Actually living with a child with krabbe is very different than reading about it in some medical publication. They fail to tell you about the love that is stronger than anything, and they don’t tell you about the sweet moments that will stay with you forever." So true. Medical issues, however serious and complex are just a part of the story…
The description of how Elias and his loved ones communicate ("acknowledge him, and talk to him, touch his hand to get his attention. His responses are a bit delayed, so wait a few seconds, and then he will start moving his lips, as if talking, and his eye lashes start fluttering) is the description of love itself.
Thank you.
Liseli
I love reading this blog- so uplifting! What a beautiful testament of Love- real love.
Thanks for sharing your families story and God bless Elias and all of you.