Our life story would not be complete without the story of Emma’s diagnosis. Let me provide some background. When Emma was born one of the first words out of the doctor’s mouth was “her belly is distended”. In her last two ultrasounds prior to her birth we had notice her belly was growing a bit faster than the rest of her body, but they were not worried as the doctor’s believed because I was a type 1 diabetic she might be a “bigger” baby. But once Emma was out of the womb the doctor’s immedietely realized it wasn’t normal. They knew something was wrong.
Once she was taken to the NICU they diagnosed her as having Meconium ileus. ( a bowel obstruction that occurs when the meconium in your child’s intestine is even thicker and stickier than normal meconium, creating a blockage in a part of the small intestine called the ileum. Most infants with meconium ileus have a disease called cystic fibrosis). Now that last part about Cystic Fibrosis was NEVER mentioned to us for the first TWO MONTHS of being in the NICU. Now I don’t blame anyone for not thinking she could have CF but let me tell you…maybe if just ONE person would have said something we would have made the connection even sooner.
So in the first day of life Emma had a surgery that removed the “bad” parts of her intestine, which totaled 12 cm. She had an ostomy bag placed on her intestine ( which means she had an opening in the body for the discharge of body wastes to come out). Ryan and I got quite good at emptying this bag out! Because she was still too tiny to “reconnect” her intestine we had to wait about 7 weeks until the other part of the surgery could occur.
The two days Emma had surgery were the scariest, most difficult moments of my life. I can’t begin to express the anxiety and fear that took over my body. To have your newborn be placed on anesthesia and need mechanical ventilation to breathe for her… it was UNREAL. The things Ryan and I watched our daughter go through is unimaginable. It’s straight out of a new mom’s worst nightmare.
After Emma was put back together and her intestine was back inside her body the next BIG hurdle was Emma being able to pass stool all the way through her intestine (sometimes when the intestine is given a break to heal it shrinks which makes it more difficult for a person to pass waste all the way through). Well you guessed it…poor Emma had a VERY difficult time with this. She had to have 3 barium enema’s to flush out her system. They stick liquids up a very unfortunate hole…in hopes of unblocking any waste that may be sticking to the sides. After three days of this procedure Emma was able to pass her FIRST stool… now let me explain how AMAZING EXCITED everyone was!!!! I mean EVERYONE, nurses, doctors, grandparents, especially MOMMY AND DADDY, we were SO very proud of our little girl. Now, this was unfortunately the beginning of a very devastating road. All the blockage Emma was having… concerned one very special person… Dr.Z, Emma’s current doctor. All these problems made Dr.Z question why this was happening.
On a very calm day, (August 6th to be more exact) Dr. Z walked into our hospital room with a concerned look. I can relive that moment vividly, I was holding Emma and Ryan was on his laptop getting some of his business work done. She came in and asked “Maria did you get all your testing done while you were pregnant”…I answered “yes, from my understanding I got all the necessary testing completed”…She asked “did you get tested for Cystic Fibrosis”, I responded “yes, I think so, but to be honest I’m not 100% positive. I can call my doctor’s office and ask”…She looked at me and said “I’m sure it’s nothing to worry about, but it might be a good idea to check if you tested negative for Cystic Fibrosis”…Now I must confess…I had no idea what Cystic Fibrosis was, but I truly remembered being tested for everything and being negative for everything. So at this moment in time I wasn’t worried I was pretty relaxed to be honest…until I called my doctor’s office… and after about an hour of back and forth they confirmed I had NEVER been tested for Cystic Fibrosis.
Now while I was trying to figure out WHY I had never been tested and starting to get REALLY angry…my husband did what he SHOULD NOT have done…he started googling Cystic Fibrosis. I feel like this day will forever haunt me, but I pray that I will be able to forget…someday. Ryan and I immediately drove to my doctor’s office to get my blood drawn to test me as a potential Cystic Fibrosis carrier. At this moment in time…as Ryan and I sat in the car…in completely silence..I heard my husband sniffle…he started getting all choked up…he was distraught…as tears began streaming down his face I asked him a question I wish I would NEVER had…”What’s wrong Ryan? It’s just a blood draw, I’m sure I’ll be negative…everything else I got tested for was negative…I was very naive…unlike Ryan I hadn’t looked up Cystic Fibrosis and had no idea the intensity of this terminal disease…Poor Ryan somehow was able to mutter the words ” Emma has a life expectancy of 30 years old if she tests positive for Cystic Fibrosis” for a moment I truly thought my heart stopped beating…I think for a moment my soul froze and became numb. I had no words to respond. I was speechless. As the already shattered pieces of my heart broke into more tiny pieces I tried to gasp for air…my heart got so tight I thought I could have felt it. I…I…could not comprehend what Ryan had just said to me.
As I arrived to the doctors office the nurse asked me if I was ok, I apparently was as white as a ghost. All I could do at this moment in time was shake my head. I had no emotions. To make a bad situation worse the nurse couldn’t find a vein and pricked me several times before she asked me to step outside and drink lots of water and come back in 15 minutes. Seriously…this was starting to become a joke…ALL I needed was to have blood drawn so I could find out if my newborn daughter would be alive PAST 30 years of age…WAS THIS TOO MUCH TO ASK!!!!
The nurse explained that we would find out in 7-10 days. Longest days of my life.
While the days went by Emma’s doctors decided to retest her newborn screen for any Cystic Fibrosis mutations…this was the beginning of a very difficult road. Emma’s results came back before mine did. She showed the most common CF mutation D508. Now let me take one step back. As soon as we found out there might be a chance of Cystic Fibrosis, Ryan and I went crazy asking our families if they had EVER tested positive for this. This is an inherited disease so if anyone in our families had it, it would tell us that it was a possibility Emma had it. Well to MUCH surprise, one of Ryan’s sister’s had tested positive and he has a cousin who HAS Cystic Fibrosis. Now I must explain that Ryan and I were both shocked that no one had ever told us about this. Now the silver lining was no one in my family had ever been tested positive as Cystic Fibrosis carrier, this made me feel better as if only 1 parent has CF then the child can not have it, they could just be a carrier.
Now back to the diagnosis…all the pressure was on my test results coming back negative. 10 days passed…11 days passed…12..13..14 days passed and still no call. I finally just had a mental breakdown and refused to get off the phone until someone told me my results…even though my heart already knew…they took so long because they had to verify that the results were in fact POSITIVE. Again my heart stopped beating…the pain I felt was unreal. This in fact meant Emma had to be tested for CF to ensure she had both Ryan and I’s mutations.
We took Emma to Children’s Hospital in Aurora to conduct a sweat test which is the best way to verify Emma did in fact have both of our mutations. I did not want to believe this was happening. I wanted to wake up from this HORRIBLE nightmare and be done. We got tested on September 8th, 2016 and we found out on September 9th, 2016 that our beautiful baby daughter would have to battle her whole life with this terrible disease. I wish I could say I had some sense of hope but at that moment in time…I had hit the lowest point of my life.
Walking into the hospital to complete the sweat test.
There is no smile for this dreaded day.
Trying to keep Emma calm while they try and get her sweat band situated.
She was not happy about this, which made it even more difficult for Ryan and I.
Emma wanted the nurse to leave her alone!
As I held Emma in my arms I prayed… I prayed for a miracle… I knew it was close to impossible…but I still prayed…as tears ran down my face…I prayed for my daughter to have strength, peace…I wanted to take away any pain she could feel or would feel…I would have given anything and everything for my Emma Marie.
Within two days we were at the Pulmonary clinic at Children’s Hopital and meeting Emma’s CF team to begin her journey with Cystic Fibrosis. I can tell you it was beyond overwhelming. The emotions are unbelievable but the one tiny, little thing that gave me peace was her doctor. Dr. M was given to us by God during this difficult time, she was sent to give us hope and encouragement, she was the best thing that could have come from this day, I truly feel that Emma has the best doctor and she will thrive due to our teamwork with Dr.M! I need to thank my husband. Here he is at our first visit with the CF team. If it weren’t for Ryan’s strength and peaceful manner I would have lost myself. He is the rock in our family, he and I were meant to be together. Ryan is the best daddy Emma could have ever prayed for. He is simply the BEST.