Jenna's story - MCADD

At 4:04 p.m. Feb 17, 2002, our beautiful baby girl came into this world. Jenna weighed 8 pounds 7oz and she was 19.5 inches long. Right from the start I knew there was something special about this little girl. She had vibrant red hair and beautiful blue eyes. I asked the nurse if there had been a mistake. Had someone switched our baby? My babies are supposed to have dark hair and dark eyes. We all laughed and the nurse reassured me that this was our baby. Two hours later, Jenna and I were settled in our room.

Jenna was a very sleepy baby. I had a difficult time trying to get her to breastfeed. The nurses reassured me that this was all very normal because of the delivery. After many attempts I finally got her to nurse. 

The next evening our pediatrician came to the hospital to examine Jenna. He listened to her chest, moved her legs and declared that she was a “healthy” baby. He told me to call his office to book Jenna’s first check up. Then he was gone. Later that evening the nurse took Jenna from me in order to do her heel prick test (at the time, testing for P.K.U. and Congenital hypothyroidism). Little did we know how important this test could have been for Jenna’s very survival.

We were discharged from the hospital the following afternoon. I was ecstatic. Everything seemed so great. Our circle was complete. We were truly blessed. Jenna was a strong baby from the day she was born she could hold her head up. It was like she didn’t want to miss a thing. By the time she was two months old she had learned to roll over on to her tummy. She would not sleep on her back no matter how many times I tried to keep her in this position for sleeping. At four months she had already cut two teeth. At six months she had started on some solid foods and was enjoying this new sensation. As most infants do she especially enjoyed razzing when she had food in her mouth. At 7 months she was crawling all over the place trying to keep up to her older siblings. She especially loved to crawl towards the sunniest place in the room to bask in its warmth. Almost like she remembered where she had come from. At 8 months she was able to climb upstairs. By nine months she had started cruising around the furniture. We were certain that she would be walking very soon. Jenna was a wonderful little girl who loved to babble dada and melt her daddy’s heart. She would giggle with delight when you gave her raspberries on her tummy. Developmentally she seemed to be reaching her milestones and more. 

The week of November 11, 2002, our son Justin was very sick with a virus. Jenna seemed fine except for a bit of nasal congestion.

On Wednesday November 20, 2002 Justin seemed better. He and Jenna seemed to have an average day. They played, and ate just like normal. I was relieved. I thought that we were finally free of the virus. 

Later that evening, I went upstairs to put Justin in his PJs. Jasmine our eldest child, was holding her baby sister for me. Just as we were making our way down stairs, Jasmine yelled at me that the baby had just vomited all over the place. I cleaned everybody up. Jenna seemed fine. I thought that she had vomited from gas. Silently I hoped that she wasn’t coming down with the flu. I offered her a bottle and she drank the whole thing and kept it down. She seemed really tired so I put her to bed. 

Thursday morning Jenna woke up around 7:45 a.m. which was late for her. She didn’t seem herself. She was very lethargic. I called the pediatricians office right when they opened at 9:00 a.m. 

When I spoke with the pediatrician’s nurse I told her Jenna was not herself and that Justin had been sick the previous week with what I suspected was the flu. She asked me if Jenna had wet her diapers. I replied that Jenna hadn’t and that since she had woken up she was very lethargic. She asked if Jenna had a bowel movement recently, I replied that she hadn’t had one as of yet. The nurse advised me to come to the office for 1:30 and to keep pushing fluids in the mean time. I asked her if it was ok to give a nine month old pedialite. She said it was fine.

At 1:30 Thursday November 21, 2002 I brought all three children to the pediatrician’s office. When the doctor entered the examining room I was holding Jenna in my arms and she was quite sleepy. He commented that while she was quiet he would look in her ears. I then placed her on the examining table and she suddenly seemed more alert. I guess it was the change of environment or being out of the warmth of mommy’s arms. The doctor listened to her heart. He informed me that Jenna was running a fever and to give her Tylenol or Tempra. He told me that he didn’t think anything serious was going on. Her diagnosis was the flu. I was told to keep pushing fluids. Once again I asked if it was alright to give Jenna pedialite and he replied that it was fine but that I should try gastrolite as it was a less expensive alternative to pedialite. The doctor then switched his attentions to my other two children. After reassuring me that they were fine he left the room. I was not happy with the diagnosis but I said nothing. Something I deeply regret.

We arrived home from the doctor’s office around 3:30. I made dinner for my two older children. After making dinner I sat on the sofa with the baby. Her condition had not changed from when I had brought her to the doctor’s office. She was still very lethargic so getting her to drink was a challenge, but she was drinking so I took that as a good sign. When my husband came home the baby seemed to perk up a bit at the sight of her daddy.

We were having some flooring installed in our house the next day so my husband was busily preparing the house for the next morning. Around 11 p.m. my husband was getting ready to go to bed. I asked his opinion regarding the baby. She had just finished about two ounces of Similac and wasn’t vomiting any longer. I wasn’t feeling the best about putting her to bed. My husband reassured me that Jenna was in need of a good nights rest as I had been handling her all day long. I agreed and put her to bed. About half an hour later I heard her cry out. I checked on her and she seemed fine.

On Friday November 22, 2002 at 4:00 a.m. Jenna cried out. I bolted from our bed to check her. She was lying in her bed with her eyes closed. I decided to change her diaper and try to get her drinking again. 

I tried giving her a bottle of formula but she would not drink. She just kept moving her head side to side as if to say no. I was worried that she was becoming dehydrated so I put some pedialite in a sippy cup. But she still would not drink. Eventually I did get her to take a sip of pedialite and she seemed content. A while later Jenna started making noises as though she were going to vomit. I thought that if she just vomited that she would feel better. At the same time my gut instinct started telling me that something wasn’t right.

I heard my husband in the shower. I went into the bathroom to look at the baby where there was more light. She didn’t look good to me. I mentioned this to my husband. Remembering the toll that the flu had taken on our son the week earlier, my husband reassured me once again that Jenna probably just needed more rest. We agreed that if she didn’t seem any better we would take her back to the doctor when his office opened. 

Unfortunately, we didn’t get that opportunity at round 6:30 a.m. all hell broke loose in our home. The baby stopped breathing I tried to perform CPR while my husband was on the phone with the 911 operator. After what felt like an eternity, the paramedics finally arrived at our home. They whisked Jenna off in the ambulance and told us to meet them at the children’s hospital.

My husband sped off after the ambulance in his car while I waited for someone to come and stay with our other children. Finally, a police officer arrived and after some coaxing he agreed to take me to the hospital. It was the longest ride of my life. I kept my composure throughout the ride. I envisioned episodes of the television series ER. I thought that I would get to the hospital and they would tell me that my baby was going to be alright after a brief stay in hospital. 

When we arrived at the emergency my husband was waiting outside for me. I figured that this meant one of two things.
1. That they were working on Jenna and he didn’t know what was happening. or
2. That Jenna had died.

Unfortunately it was number two.

To say the least we were in shock. How could this have happened to our baby who only two days previous seemed so healthy? This was the first time Jenna had ever been ill. Surely there had to be some mistake. Initially, we were told that the cause of death was Reye’s syndrome. 

About a month later we received a call from the coroner’s office stating that the cause of death had been changed to a fatty oxidation disorder called Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD). Adding to our devastation, we have learned that this disorder would have been detected at birth with a simple $25.00 US ($40.00 CDN) blood test, similar to the heel prick test that is currently done for PKU. Since Jenna’s death her PKU card (ie: heel prick test) from when she was first born was obtained from the Ministry of health. It was sent for MCADD screening. The results came back positive for MCADD. This proves that if Jenna had been screened for this disorder as a newborn we would have known what we were dealing with right from the start. A treatment plan would have been devised, and Jenna most likely would have had a healthy normal life. We were told that the general treatment plan is an adherence to a low fat and high carbohydrate diet. In times of metabolic crisis such as the flu or ear infections treatment is generally nothing more than an IV with glucose. Again let me repeat with early detection Jenna would most likely still be alive today.

The carrier rate for MCADD amongst Caucasians is estimated to be between 1 in 60 to 1 in 70.MCADD is thought to occur in approximately 1 in 9000 live births. The incidence rate for this disorder is just as high as PKU, which newborns are currently being screened for in all provinces. 

Our child is not the first case of MCADD in Canada. Through the Fatty oxidation disorder support group ( HYPERLINK "http://www.fodsupport.org/" http://www.fodsupport.org/) we have learned of children and families who have been affected by this disorder all over Canada and the world. We have heard of many tragic stories like Jenna’s and also many stories of hope. The stories of hope come from families who have been fortunate to receive their child’s diagnosis before a metabolic crisis occurs. Early diagnosis of these kinds of disorders via expanded newborn screening is saving lives, and offering better quality of life to those individuals diagnosed early enough to prevent severe neurological damage. Please use your voice to advocate for expanding newborn screening in your community. You will help to spare innocent children and their families a lifetime of needless heartache.

Sincerely,

Tammy and Roger Clark
Jenna, 9 months – deceased MCADD
Justin
Jasmine
Editor’s Note – Thanks to the hard work and tireless efforts of families such as the Clarks, the Government of Ontario decided to implement expanded newborn screening in 2005, and currently tests all babies born in the province for 28 conditions, including MCADD