Nora’s Story (LCHAD)

March 29, 2001 was the happiest day of my life. Not only did we have a wonderful little boy, Tommy, but early that Thursday morning I gave birth to a beautiful little girl, Nora. She was born two hours after her due date! All of the women in my family were born at the end of March, so Nora’s birthday being on the 29th made it extra special. My husband, Jay, and I were ecstatic. My pregnancy had been easy. We did have an ultra sound and when we found out that we were going to have a girl, we both were so happy that we cried! Nora kicked so hard during the ultra sound, that the lady doing the procedure told me “Be ready and put your running shoes on for this one!” I also had to go to have a non-stress test done a few times, because my doctor thought that Nora might be a little bit too small for her gestational age. When Nora was born, she was 6lb and 5oz, so she wasn’t exactly a big baby, but then again both of our families are on the small side. All that mattered was that Nora was as healthy as could be! She right away got an Apgar score of 9!

We could not have been any happier. Everyone kept telling us “Now you’ve got a perfect family, a boy and a girl.” We felt so blessed! Tommy adored his little sister and Nora was crazy about Tommy.Soon Tommy learned that when he’d do something goofy in front of Nora, she’d laugh out loud. It was so much fun watching the two of them “play” together. I stayed home with our children and life could not have been better. Nora was an extremely easy baby. Immediately she started nursing really well. She hardly ever cried and was very happy and content. She started smiling early on and she shared her special smile with everyone who looked at her. Nora slept well and ate well. She would never cry when she woke up from her naps, she’d just make cooing sounds and when I’d go to pick her up, she’d smile to me. She loved sitting in her little swing and watching everything around her. When you held her, she liked sitting with her back against you, so that she could see everything that was going on. She was very alert. She loved being sung to…I had a special song that I used to sing to her every day and whenever I’d just sing the first few notes, she’d give me a great big smile. When Jay was not working, he would help me with everything. He’d bathe Nora (she loved baths), change her diapers, bring her to me when I’d nurse her, etc. He loved his little girl. 

Nora’s checkups went well. Even though she was small when she was born, she quickly became 50th percentile in height and weight. The only thing that bothered me was that sometimes when I’d feed her, she’d have projectile vomiting. I often wondered about this. I read about it in a couple of books, and I even asked our pediatrician about it. But the fact is, that MANY babies do throw up. And it seemed that when I’d burp her more, she wouldn’t throw up so much. And since she was gaining weight so well, nobody was concerned about it. 

I never left Nora and Tommy for longer than an hour or two. My sister came to see them almost every day. Tommy and Nora love Tuula. I knew that the day would come that I’d have to go back to work, but I tried not to think about that. I worked part time, only six days a month, but my work would take me out of state twice a month, three days at a time. 

On August 7th I was supposed to go to work for just a day of training.
 I did NOT want to leave Nora and Tommy. But I kept telling myself “You won’t even be gone overnight. Before you know it, you’ll be back home again.” My big fear was that Nora would not take a bottle because I had been nursing her exclusively. We went through the same with Tommy. On that early morning I nursed Nora, kissed her and Tommy good-bye, told them both that I loved them, and headed to the airport. When I got there I found out that my flight to my destination was canceled. I turned around and came back home. I was only gone for about four hours, but that morning Nora had cried hard and refused to take a bottle from Jay. When I returned, everything was back to normal. 

The next day Nora seemed to be a little quieter than normal. I also remember that she wasn’t eating as well as usual. When I nursed her, she’d throw up and when I’d try to nurse her again, she’d just look at me and smile and turn her face away. I figured that she got enough food and was maybe throwing up the excess. She was otherwise in a good mood and happy. Then came the next day… 

Once again, I had to get up at 3am and try to attend my one-day of training. I had a very hard time leaving that morning. I really didn’t want to go. I nursed Nora and told her how much I loved her. Then I gave Tommy a kiss and whispered in his ear “I love you and I’ll be back tonight…” Then, for some reason, I had to go back to Nora’s room and hold her again and kiss her and tell her again how much I loved her. Then I said a prayer and asked God to take good care of my children while I was gone, then I cried a little. I just had a terrible time leaving. But then I told myself that I’d have two more months off after that day, and I headed out the door. 

My training went well. At home Jay took care of Nora and Tommy in the morning and later when he had to go to work, my sister took over. When Nora got up in the morning, Jay picked her up from her crib and placed her on our bed to change her diaper. He went to turn the water on to wash her a little bit, but when he went to pick Nora up, she had fallen back to sleep on our bed. Jay let her sleep on the bed and went back to bed himself. 

After my training was over, I called my sister to tell her that I was on my way home and to check how everything was going. My sister told me that Nora had taken the bottle and that things could not be better. I had told the other women in my training class how concerned I was that Nora would not take the bottle, but after talking to my sister, I told them that I didn’t have to worry any more, that Nora had taken the bottle from my sister. 

When I got to the terminal to take my flight home, I called my sister again. This time she told me that Nora didn’t seem to be her happy self. Tuula said that she just wasn’t smiling like usual. Maybe it’s mother’s instinct, but I got a terrible feeling that something awful was going to happen. We kept thinking that maybe Nora just missed me, but we then decided that Tuula would call our pediatrician. I got on my flight, but then found out that the flight was canceled because of a mechanical problem and it would take them an hour and a half to get another airplane! I was so upset! I called my sister again, and she told me that she was waiting for the doctor on call to call her back. By the time I boarded the new plane again, she still hadn’t heard from the doctor…We found out later that the “operator” had given the doctor on call a wrong number! 

As soon as I got off the airplane, I called home again. There was no answer. I was very upset and knew that something had happened. When I reached my car, Jay called me from the hospital, and told me that they had taken Nora to emergency. Upon arriving at the hospital, the emergency room doctor had asked if my sister was sure that something was wrong with Nora, because she looked so well. Suddenly Nora then became unresponsive. They rushed her to a treatment room and began taking her vitals. They could not figure out what was wrong. They thought that a CT might reveal what Nora’s problem was. While all of this was going on, I was driving as fast as I could, trying to get to the hospital. It seemed like the longest drive of my life. All I could do is cry and pray… 

Prior to the CT, Nora went into cardiac arrest. They attempted to resuscitate her for almost an hour.They were trying everything they could, but nothing worked. 

I arrived at the hospital and was met by our Pediatrician. He told me “I’m sorry, but Nora didn’t make it.” My world collapsed…Leaving home that morning, I never would have thought that Nora wouldn’t be there when I returned and that I’d never get to hold my baby alive again. 

We couldn’t understand what had happened. We agreed to an autopsy. Our Pathologist was very thorough and with our connection to the Mayo Clinic, we quickly found out that Nora had died from a Fatty Acid Oxidation Deficiency ~ LCHAD specifically. We had never even heard of such a thing and had no idea what was ahead of us… 

Our world was crushed and to add to the devastation we learned that Nora could have been screened for her disorder, and her prognosis would have been excellent! 

Now every day we go to the cemetery to visit Nora’s grave. We miss her more than we can say. It is so sad to see Tommy without his little sister. He talks about Nora a lot and we know that he misses her too. Every night I say a prayer in front of Nora’s picture and tell her that I love her. In bed every night we cry ourselves to sleep. 

Now we are very busy advocating Newborn Screening to other parents and not a day goes by that we don’t ask ourselves “Why were we not informed about the screening?” If we had been, we know that our little angel would still be with us.

Sirpa and Jay Waananen