July 13, 2017

Leo and Misty’s story

My name is Misty Koulianos and my son Leo has Surfactant Protein C Deficiency (SPCD), a rare lung disease due to a mutated gene in his DNA. Surfactant C is responsible for helping to open the lungs while inhaling. The surfactant that Leo’s body releases is not correct, so his body rejects it. When this happens, it causes inflammation and scarring in his lungs as well as preventing him from getting rid of carbon dioxide easily. Each child with this disease is different, so the prognosis ranges from chronic to fatal.

My husband, older son Anthony and I moved to Australia from the United States when I was seven months pregnant with Leo. Leo was given a clean bill of health when he was born and was sent home. He was a fussy baby, he did not sleep well and he could not breastfed more than a few seconds before stopping and falling asleep. We were confused; but like most parents, thought it was something minor. When Leo was not gaining weight, we grew concerned and ended up at the emergency department for a simple reflux test. The nurse hooked Leo up to a foot probe to read his oxygen. It was 74%. We all thought something was wrong with the probe- but it was correct. We were admitted for a possible cold.  After being discharged on Christmas Eve, we were re-admitted in two days. It was the beginning of a permanent change in our lives.

The doctors were confused. I was in denial, thinking it was reflux.  On New Year’s Eve, Leo was scheduled for testing including a CT scan and lavage.  Mick had to work and I remember keeping it together until they took Leo to surgery.  What was wrong with our little boy? I was so alone with our family thousands of miles away. The results of the CT showed inflammation in every lobe and ground glass opacity, which is a general term for infection and/or collapsed air sacs, as well as thickening of the lung walls.  I had no idea what that meant.

That night, Leo’s respiration rate grew to 200 breaths a minute. My tiny, underweight three week old was running a marathon in his cot while asleep. The next day, his breathing and heart rate increased. Both nights ICU would not admit him. Leo’s  ward nurse was calm but she knew she may lose Leo that night. I was so exhausted I had no idea of the seriousness of the situation until Leo’s consultant arrived the next morning to send Leo to ICU. I remember looking at her and saying, “I am afraid Leo is not going to make it”  searching her eyes for some small bit of hope. Her reply was, “that very well may be true.” I was shattered.

Leo ended up spending almost two months in ICU. My husband and I had to go home at night to care for Anthony. Every night, we waited until the last minute to leave Leo and every night we looked at Leo for possibly the last time and waited for the phone to ring at home. A few days later, a lung biopsy was performed. It would be three long weeks of waiting to hear the diagnosis.   No treatment would be started until the results came back.

I remember the day we received the diagnosis. It was bittersweet. When we heard it was SPCD, we felt there was hope and at the same time felt hopeless. I researched everything on the disease. There was little to nothing available. No one had treated this disease in our hospital except one physician who had one case. Leo, however, was underestimated by all of us. He grew strong enough to be moved to the ward where he remained for another four months.  Leo had a naso-gastric tube for venting, naso-jujunal tube for feeding, and c-pap mask almost 24 hours a day. I imagine I saw hundreds of doctors during the six month stay.

Every day, scores would come by and ask the same questions and all would have the same look. They had no answers.  I knew at that moment I had to advocate for my son and would document his day in a journal. Anytime Leo would have a change, no one knew why. I became angry and mentally exhausted.

When we were discharged, it was an around the clock job for me at home. Leo had quite a few setbacks and I constantly had a lump in my throat from worry. He was on a number of medicines, oxygen, c-pap and still fed through the nasogastric tube. I sat by Leo when he was awake for almost every minute of the day. He could pull his tube out or he could stop breathing.  Anthony had no time with me.

Today Leo is almost four years old. He has been off oxygen for almost two years and cpap for six months. He gets food supplemented through his gastronomy, but he is eating more orally with time. He runs, he talks, and he is wild. We have recently been able to let Leo be babysat for a couple of hours so that Mick and I could have a break. He is still too complex to have anyone we know watch him for longer. We take every single day as a blessing. I still have some of that lump in my throat knowing that all it takes is one virus to have him end up in ICU. He still has SPCD. I still feel isolated but have been able to connect to a few lung families across Australia. We are just all so far apart. I do not know what the future holds for Leo. I can only hope that it holds more positive days and with time, knowledge will increase for these children among the medical profession and resources will improve. I am still his advocate.

Leo knows he has lung disease but for him it is just words. He wears his batman cape every single day as he climbs the tallest things at the playground. He lives life to the fullest every single second and this reminds us to do the same.

 

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