Our Jump Into Rare Disease

Many have asked what our connection is to rare disease. This is a brief version :)

January 2013

Legos, Green Bay Packers football and all things science were the focus of Ethan- a typical 8-year-old boy. Healthy and full of energy, his life was changed forever in the middle of January 2013. It was a normal Monday morning, rushing to get kids to school on time after a fun weekend. He mentioned that his stomach felt uneasy but still felt ok to go school. A kiss and hug later, I watched him and his little sister walk into school, turning and waving goodbye. An hour later I was back at the school picking him up after he had thrown up during class. No big deal, we thought. It seemed like half the school had the stomach flu and we figured it was our turn.

 All day Monday and Tuesday, he couldn't keep anything down and alternated between sleeping, lying on the couch and occasionally playing video games. As I put him into bed Tuesday night, he mentioned that the last time he had peed it was kind of red. Red? I put a call into our urgent care center just as they were closing and talked to the nurse. Should I be concerned? Since I hadn't actually seen the urine, I didn't have a lot to go off of. But with no fever, no chills, acting normal, and him sleeping soundly we decided to wait until morning and take him to his pediatrician. I was up early the next morning, showered and waiting for the office to open. Luck was on our side as we were told to bring him in first thing. I got him out of bed and knew that he was taking a turn for the worse. His eyes and skin were yellow and he was extremely lethargic. I helped him take a quick shower and watched as his face turned green, too weak to get out of the shower and then vomiting into the toilet. Something was wrong. At the pediatricians office he was tired, barely able to sit up and it took a long time for him to produce a urine sample. I was in the bathroom helping him when he began to pee. It wasn't red. It was a horrific dark brown with a red tint to it. Think Coke with red food coloring. My stomach lurched- something was really wrong. Back in the exam room, the first round of blood labs results were in. He was in kidney failure. Fear kicked in to high gear. What was wrong with my little boy?

Summer 2009 

I was pregnant with our third child and eagerly awaiting Ethan to be a big brother for a second time. I awoke one morning from a terrifying dream in which something was wrong with Ethan and somehow this new baby was going to help save him. My dream wasn't specific- in fact it seemed more of a moment than an actual dream but it still bothered me. For weeks I would watch Ethan as he played or slept and worried to myself if any part of that dream would come true. As time passed, I pushed the thought away eventually forgetting about the dream. 

January 2013

Until now. Now as I was racing down the freeway to Primary Children's Hospital in Salt Lake City, Utah, about an hour away from home. Upon looking at initial blood results my pediatrician sent us to Primary's. We are extremely fortunate to have a renowned children's hospital so close to us. I helped Ethan in to the emergency room and we were immediately taken back to an exam room. Questions began to fly as the medical team flew into action putting in an IV, drawing blood, making him comfortable and more. I was trying to answer questions such as when did this start, what did he eat last, do you have a history of pediatric cancer and do you have someone to be here with you. My amazing husband was on his way, having left work immediately when I called to say we were headed to the hospital. I knew he wasn't that far behind me but it felt like an eternity waiting for him to arrive and it felt like pure heaven when he walked into that exam room and I fell into his arms, trying to hold it together in front of Ethan. I was absolutely terrified. Just 48 hours ago it was a normal day. What had gone wrong?

Kidney failure. Filtration system shutting down. More urine the color of coke. My head was spinning with phrases and procedures I didn't know. Hours later we were admitted into a room and were now discussing starting blood transfusions and dialysis. Really? He was just throwing up!

The initial thought of diagnosis was HUS or hemolytic uremic syndrome- typically caused by ecoli from undercooked meat or animals. More questions on what he had eaten or had he been around animals or to a petting zoo. Nothing matched and we needed a stool sample to confirm ecoli. If not HUS, well, their expressions didn't look great and I have never wanted my son to have ecoli so bad before.

Friday morning a neck catheter was placed in his neck for dialysis to start that day. He already had his first of many blood transfusions to come. Dialysis was a whole new world to us and I was amazed by what it did. To watch it remove his blood, clean the toxins out and give him fresh new blood- I was in awe. Each day it took a few hours to complete and we were so happy to have an incredible dialysis team that quickly became friends. There was a little bit of improvement and the plan was to keep cleaning the blood to remove the toxins as we still waited for ecoli test to be done and results to be received. Days later, multiple blood and platelet transfusions, daily dialysis we finally had a stool sample and then a few days later an answer. No ecoli. This was not HUS.

Low platelet counts had plagued him. A simple nosebleed turned into an almost 16 hour nose bleed and ended up with getting another transfusion of blood and platelets. Our world was spiraling. I was staying at the hospital during the week while my husband worked and we switched on the weekends. During the week I missed my little girls, longing to be with them. I spent hours making calls to coordinate babysitting, picking up from school, taking to dance and more. I was finding others to fulfill my job as their mommy and it broke my heart. When I was at home I missed Ethan desperately. I made multiple calls and texts to my husband to see what was going on, how he was doing, what were his lab results, did he get a bath, was he hurting, was he afraid. I felt I wasn't fulfilling my job as his mommy. I was so torn each day of where I needed to be and where I wanted to be. I just wanted us to be together as a family again.

Approximately 2 weeks after Ethan was admitted to the hospital and multiple tests administered he was clinically diagnosed as having Atypical Hemolytic Uremic Syndrome (aHUS).  A genetic, chronic, ultra-rare disease that can progressively damage vital organs, potentially leading to stroke, heart attack, kidney failure, and death. Our hearts sunk. We were happy to finally have an answer but I was heartbroken to learn that this would be something that he would deal with his entire life. What did this mean for him? For his future? What trials would be face and how would he handle them? 

I knew that he would handle them with the same courage and strength that he had from the first day he was admitted. Ethan has always been my kind, easy going, and no worries kind of kid. He took this trial the same way. The first night he was admitted he was joking to the resident about rabies. Neuro status- ok! He was trying to make others laugh even though you could see how terrible he felt. Always caring for others, he was no different during his hospital stay.

After we were able to get an official diagnosis, we were able to start him on the drug Soliris, a recently approved medication to treat Atypical HUS. Given thru an IV we started to see positive results after the first dose. Platelet count was rising and creatinine levels were lowering- the first real promise we had seen. We knew a cure was impossible but were grateful for a medicine, so brand new, that was already bringing life back into his eyes and color to his cheeks. At $12,000 a bag (for his current weight/dosage) given every two weeks, it was Forbe’s most expensive drug in the world. It didn’t matter. There was no price I wouldn’t pay to seem him feel better and luckily our insurance company was great to work with. His levels were improving so much that he was able to stop dialysis and no longer needed blood transfusions. After two weeks of Soliris he was improving so much that talk about going home began to be a frequent conversation. Really? 

After 30 long days, we packed up a room of cards, pictures, toys and memories. I walked down the halls as we were leaving, tears in my eyes. We were finally going home and yet I was terrified. This place was safe, can’t we stay a little longer? I felt like I did the day I took Ethan home from the hospital as a new baby. Excited and happy, yet nervous about the first night alone in our own home. We would be back in a few days for a treatment of Soliris and that thought was comforting. The hospital felt like a second home to us. We were embarking on a new adventure in life. We didn’t know what was around the corner but we knew that we had brought him home and that was all that mattered for now. We would always be in his corner, fighting every fight for him, taking all the worries as our own and not letting this define who he was- his job was to be a kid. His job was to enjoy life. Every precious and beautiful moment of it.

January 2016

We are coming up on the 3 year mark of his diagnosis. It feels like a lifetime and a short moment at the same time. We’ve put on over 14,000 miles on the car for trips to the hospital, infusions and rushes to the ER. He’s had over 150 IVs, takes 9 pills a day, is immune suppressed, has dealt with prednisone chubby cheeks, over 3 months of missed school, goes to the hospital every other week for IV infusion of Soliris, numerous worried phone calls in the middle of the night, and countless other issues that seem so normal to us now. They say it’s a new normal, but to me it’s just the path our life took. We love him too much to complain and wish for the old days. It’s been a horrific three years of fears and tears but it’s also been the most beautiful three years. I’ve been overwhelmed with support from his school, our neighborhood, the community and our family and friends. I’ve learned the true meaning of charity and have been part of so many selfless acts of service and love. It makes us happy, it gives us peace and it gives us the opportunity to give back. I wish I didn’t have the experiences I have had because it would mean that Ethan was healthy. But eventually in all of our lives we will be faced with a challenge. This is one of our many that I know will come, but it’s been rewarding beyond imagine and I can’t imagine not having the lessons I’ve learned from. We know what strength is. What hope is and most importantly what gratitude is. Trials only make us stronger and give us a glimpse of what we can do, whom we can help and where we are needed. For Ethan, the boy who always loved science, he dreams of becoming a geneticist or an immunobioengineer. In fact his goal is to win not one, but six Nobel Prizes for finding answers for Atypical HUS and other rare diseases. He recently won first place in his school science fair for his project "Are You At Risk For Developing and AutoImmune Disease" and is headed to district next month. He has not let this get him down. He has taken it and ran with it. Finding the light in the darkness, the good in the bad and he is discovering his own path that he was sent here to follow and gaining the traits to accomplish something amazing in his life. He has already has accomplished something amazing- he made me a mommy. He is the kindest big brother, a true friend, a fierce competitor and the son we dreamed of. He is my hero.