This Little Light of Mine

By Meredith Bugenske, proud mommy of Leo Joseph Bugenske

I believe one of the greatest blessings in life is to be able love each and every day. To be filled with joy and happiness at the end of the day, and be deeply thankful that God has blessed us with it. To live in the moment, and to appreciate the small things in life while knowing you are doing your absolute very best. It is an amazing feeling. 10 months ago I had no clue what that felt like. Sometimes you have to be shattered into a million pieces to be rebuilt as a stronger version of yourself. With new eyes, new perspective and new awareness of life. Ten months ago I lived in a naïve cloud of empty bliss. Ten months ago I gave birth to my baby boy Leo, and 3 and half weeks later I was told he most likely wouldn’t live past 8 months old, and certainly not past two years old. This is our story of our precious baby.

Pregnant!

I will never forget the initial joy when learning we were pregnant. How slow the weeks started to creep along as I would constantly check to see what “fruit” our baby was that day, and read how he or she was developing. I tried to read every book that could possibly be written on the subject. I would scour the internet hoping to find some new piece of information that I had previously missed. I changed my diet per book and internet orders, and did everything within my control to help ensure a “healthy” baby. We soon found out we were having a little boy, and began planning our future as a family of three. I would daydream about what our son would be and look like. Our new life was playing out so beautifully in my mind with t-ball games (he was of course the star), dirt bikes and family vacations. He was all I thought about. We moved out of our small bungalow, away from downtown and back to where we grew up. We were back in the woods and surrounded with beautiful trees and huge creeks. I had visions of our son playing all day in the creek, building tree houses and riding his bike. I had showers and received beautiful gifts for our sweet boy. I decorated his nursery, read more books about raising a child and waited. And waited.

Then the day was finally here. Well past his due date, and I would have to be induced, but it was here. Our baby was coming. The rush of emotions was surreal. After a long labor with failure to progress, I would have a c-section. Finally. Now he was coming! He entered this world while Bob Marley was singing “Buffalo Soldier” in the background. At that time we had no idea what a fighter he would in fact turn out to be. The next few hours were filled with pure bliss. Our miracle. Our heart. I was a mom, and everything had already changed.

Reality

That was short lived. Reality hit and it hit hard. Early the next morning the pediatrician evaluated Leo and told us he had low muscle tone, but that he was not concerned. He thought it was simply due to a long and traumatic delivery. That day was hard to focus on anything negative with Leo. Family was in and out of the room all day, and it was a joyous time. We focused on the “I’m not concerned” part. As the day went along, however it became shockingly obvious that Leo was not moving very much. By that night I was in tears with fear. The next day we were told again that he had low tone, but he was nursing very well, and that was encouraging. We were sent home with follow up appointments. It quickly became apparent that he was not improving, and our pediatrician began running tests and referred us to a neurologist. The unknown of those weeks was beyond terrifying. Knowing something could possibly be seriously wrong with our child. Questions raced through our minds. Would he need lots of therapy to be able to walk? Would he maybe just not be able to play sports or participate in physical activities like other children? Is his brain affected? Nothing prepared us for what we learned 3 weeks later.

Three Words: Spinal. Muscular. Atrophy.

Leo was diagnosed with Spinal Muscular Atrophy (SMA). SMA is the #1 genetic killer of young children. 1 in 40 individuals are carriers of SMA. SMA is a neuromuscular disease that affects motor neurons and causes progressive weakness and wasting of voluntary muscles. The brain is not affected by SMA. There are varying degrees of severity of SMA ranging from Type I to Type IV. Leo has the most severe form, Type I. It is often referred to as ALS for babies. There is a 25% chance that any future pregnancies would result in SMA as well. Babies diagnosed with Type I are given a poor prognosis and do not typically live past two, with the majority dying before one with respiratory failure as the cause of death. There is no cure.

There is no way to describe the emotions we felt as new parents when hearing our precious baby would not only never be able to achieve physical milestones such as sitting up, but that he would also not likely be with us for very long. That he would become weaker and weaker until he could no longer breath on his own. We were devastated. We were on a constant ride of emotions. We were still new parents, and we were still experiencing all of the same emotions of being a first time parent. But we had a heavy weight on our shoulders. The devastation we felt could only be conquered by one thing and that is our faith. We immediately made the active decision that we would not dwell in the what-ifs and what will tomorrow bring. Instead we would cherish every moment we had with Leo. Every smile, every breath, every moment of his life was a blessing that he was with us. We found a new trust in God, and His plan. We began to trust Him with Leo. We also found hope. There was a gene therapy clinical trial to start in February that could be the cure to SMA. We were told Leo would be a good candidate. We began to put all our hope in this trial. Leo would be cured.

Reality Check

Despite the diagnosis, Leo had been doing extremely well his first month and half. Or so we thought. On Christmas Day, when Leo was just shy of two months old, he stopped breathing. We performed CPR and he was quickly taken to the children’s hospital by the paramedics. I thought we had lost him, but he came back to us. This was followed by a two week hospital stay. We did not know if Leo would pull through. He had a beautiful baptism while at the hospital, and was baptized with water from the River Jordan. He lost a great deal of strength during this stay, and was no longer able to nurse. The risk was too great for aspiration with subsequent pneumonia for him to continue. I will never forget that Christmas morning when we shared that special bond for the last time. We left the hospital to go home only to return soon after for another three weeks in the PICU, for a partially collapsed lung and Leo had surgery for his feeding tube during this time. Those were very scary and very dark times. My husband and I rarely left Leo’s side. Only to eat and go to the bathroom. I remember panicking one time when I had run out to grab something to drink because I realized I had not kissed Leo before I left. I sprinted back to his room. We both spent every day and night by his bed. We prayed continuously. We grew closer to each other and closer to God. We waited for “Leo’s” trial that could be the cure.

Leo Today

Leo never qualified to be a part of the trial we had been hoping for. It started later than we thought, and he became too old. We are still hopeful that the gene therapy trial will have great success and the FDA will fast track the injection for all individuals with SMA. Leo has come a long ways, and so have we. We are so thankful for the SMA community. They have been an amazing resource. Not only for their advice as veteran SMA parents, but for their “file cabinet” of clinical studies, documents and protocols that have allowed us to be able to study as much as we can about SMA, and learn the things that Leo must have in place in order to thrive. Oh those books I once was reading. What to Expect the First Year. Ha.

Leo has now lost most all of the strength he had in his arms and legs. He can’t kick his legs, or reach for toys. He can’t crawl or even sit up and must remain flat at all times. He cannot hold his head up. He cannot move on his own, and is dependent on us for all positioning. The muscles he uses to breathe are also weak and he has to have breathing support at night. Losing his swallow also means he cannot swallow his secretions so he has to be constantly suctioned so he does not choke. He cannot cough, and has to use a cough assist machine to help simulate a cough to pull out any secretions in his lungs. He has to be continuously hooked up to his feeding pumps and to monitors so we always know his oxygen levels and heart rate. He is still able to laugh and smile and I soak in every second, because this will one day be gone as well. He has modifications for everything including his stroller, a car bed, and a special mattress for his crib. We are only able hold him for very short spurts of time, and it is very difficult. He requires 24-hour care, and for this reason I did not return to work. I am so thankful that I am able to stay home and care for him and love on him all day. For the first time in my life, I feel like I am currently fulfilling my true purpose in life, and that is to be the best mom I can be to Leo. I love being home with him and we have the best time together. Leo loves his four-legged brother, Wyatt. He loves playing, reading, and going for wagon rides. We are blessed to have family close by so Leo is able to see his grandparents, aunts, uncles and cousins often.

Living

My husband and I have been completely transformed. It is a true blessing to be able to say that we live every day in the moment. That we soak up every second we get to spend with Leo. We have high hopes for Leo’s future, but we are not naïve to the reality of his situation. This will always shine a light on our world that we would have otherwise been oblivious to. When we first got Leo’s diagnosis we created an adventure list with things that we wanted to experience as a family. We are so thankful he has been doing so very well. Leo has felt great, and has been full of smiles. We are taking advantage of these moments, and his adventure list has actually grown. His brain is not affected, and he is continuing to develop cognitively as any other baby. We try to give him every new experience we can think of. Leo loves going to the zoo and to the park. He has been to Charleston, the beach, the aquarium, to Beaufort and on many other outings. It can be difficult at times with all of his medical equipment, but we make it happen. There is no more “next time”. There is no next time. There is now, and we are doing it. We celebrate everything and every birthday. Leo is not dying of SMA. He is living with SMA.

It is certainly not always easy. This is a much different life than we had “planned”. Again, “planned” as our naivety in thinking that this was all in our hands. There are still moments that sneak up on me. Usually out of nowhere, and when I am least expecting it. This is darkness, and I visualize it as the devil trying to inch his way in telling me I will be destroyed when Leo leaves us. He is trying to steal me of the joy I have now. It is an active decision to not allow my mind to go there. Because there is no joy there. There is joy here. Now. God is with us, and he has a plan for Leo. This is a different life than we had envisioned. A different journey. We had to give up many of our dreams we had for Leo. It was not easy, and is still very hard to accept at times. However, we have gained more than we could have ever imagined. A deeper faith, and we have Leo. We have new dreams and modified dreams. Our new journey, like everyone’s, still has ups and downs, but it sure is beautiful. Our new journey has one ultimate goal, and that is to spend eternity together with God in heaven.

My Light

Leo is one amazing boy. He is such a fighter and has such a strong spirit. He is very smart, opinionated and determined. He is perfect, and we are honored beyond belief that God chose us to be his parents. Leo is changing lives and saving souls. He is a bright light that shines through all the darkness in this world. We are so incredibly proud of him. He brings us more happiness and joy than fear and worry could touch. We are so thankful for all of the support of family, friends and community. We know God has placed us, and Leo, in the exact place he wanted for Leo to receive all the love and support that has allowed him to thrive. We have been overwhelmed by the willingness of others to selflessly put our family ahead of themselves. Starting fundraisers for Leo, meal trains, cleaning our home, and the list goes on and on. We are so much more aware now of others. We could not do this without you. We are better parents, and Leo receives better care because of all that you do. It is part of our new dream that we can give back to others the way they have given so much to us. God is amazing. He has blessed us with Leo, a rare and special boy that has changed our lives for the better. There is no way to explain how one’s perspective on life changes when faced with something like this. Nothing is, or will ever be the same. We pray Leo will continue to do as well as he has this summer, and that his life will continue to be filled with joy and new experiences. We have been given one of the greatest gifts of all, and that is to take every single moment in life as a blessing. We have the glaring realization of something we have always known, that no one is promised tomorrow and this day, is the day that the Lord has made and we will forever rejoice and be glad it in.

There is beauty and good all around us, but darkness can always strike anyone at anytime in many different ways. It can blindside you, and take your breath away. It can strip you of life as you know it and leave you in a panicked state of anger and confusion. Instead of stumbling in the dark, open your eyes. There will be a light somewhere. It might be a faint glow at first, but as you get closer you will see its brightness. This light is full of hope, joy and courage. Cling to it with all your might, and you will see that it only gets brighter. You are still surrounded by darkness, and you will always be keenly aware of this, but sometimes you are so blinded by that beautiful light that God has given you that you just don’t care.

Join Leo in his fight for a cure! Go Leo Go 5K and Family Walk:
www.runhard.org/leo

Please visit CureSMA.org for more information on SMA.