My name is Jill and I am the mother of 3 precious girls. Our first is Fiona. She is 6½ years old and was just diagnosed with VLCAD this week after 4 years of wondering and waiting. Our youngest daughter has also been diagnosed with VLCAD through her Newborn inborn screening. She is 10 weeks old tonight. She has had her skin biopsy done and it came back showing that she has the VLCAD-H. Fiona was born in Jan. 2001.
Our middle child Piper has not been diagnosed as of yet. We are awaiting the acylcarnitine profile. My husband's name is Chesley. We live in Baton Rouge, Louisiana.
Our story starts back in the summer of 2003 - June to be exact. My husband was working in DC for the summer and we downsized, Fiona and I that is, into a 2 bedroom townhouse. Chesley left on Mother's Day to begin the long trip up there. That was May 12th. We talked almost daily and decided that he would try to come down once a month to see us and so Fiona would not forget him. We then planned for him to come down the first of the month, June. Our wedding anniversary is June 6 and thought that would be a good time to come see us.
Well, the week prior to him coming down Fiona had gotten some type of stomach virus, or so we thought. I brought her to her pediatrician and she told me she was fine. Keep her well hydrated and don't worry too much about her not eating was her philosophy. Toddlers go through stages where they do not want to eat. Our first child.so I thought nothing of it since she didn't either. Took her home and pushed fluids. My husband came into town that Friday and I went and picked him up from the airport. Since Fiona had been sick, we were debating whether or not to do anything or just stay home with her. She had gotten progressively worse throughout the week, really tired and lethargic. Once again the Dr said she would be fine as long as she was drinking and urinating. Saturday morning my mother, who also lives here in BR, called and asked if she could have Fiona for the day. I said ok, but you need to keep a close eye on her because she was not feeling well. Fiona kind of perked up when I told her she was going to NeNe's house to play. She had reverted to drinking out of the bottle and all she wanted was water. We went out to eat later that night and called when we got back from the restaurant. Mom said that she had been sleeping and would not eat, still only wanting her water. I said ok, but call me if anything changes.
I then went upstairs to sleep and the next thing I knew the phone was ringing. I knew immediately something was wrong. It was 11:10 pm. She sounded like I had never heard her before. She said something was wrong with her and I needed to get there now. We jumped in the car and raced over there. She was lying on the floor partially in my mom's arms. She was gray, lethargic and dying. She was also throwing up some yellowish-green colored substance. I knew if I didn't do something my baby was going to die. I called 911.
The fire truck got there first. I was inconsolable and hysterical. My husband went to her and was holding her tiny lifeless body in his arms. The EMTs were trying to get an IV started in her but her veins were nowhere to be found. They had collapsed due to dehydration. I hollered at them to do something. He hollered back that I needed to calm down because I was no good to my daughter acting like that. I hollered back that she was no good to me dead.
One of the EMTs then escorted me outside to try and calm me down. All I could think was my baby is dying and I never even got to know her. She was only 2. I refused to stay outside. That was my child and I was not going to leave her alone with them. They finally got an IV started in her and then decided to check her blood sugar. It was 15. They immediately gave her a D10 bolus wide open.
The ambulance got there and rushed her to the ER. The convulsions started. I was horrified. She was grinding her teeth and moaning in this eerie way. The ER Dr said it was normal considering what her body had been through. I didn't care. I told him I wanted it stopped. He said there was nothing he could do. They then admitted her to the ICU. The battery of testing began. West Nile had just been "discovered" that summer and they automatically thought she had it. Nope. Negative. Must be encephalitis. Nope. Also negative. Hah. Meningitis. Nope. Negative once again. Now, we are talking about them doing multiple spinal taps on a 2-year-old. I was getting livid. I asked them if they had ANY idea what was wrong with my daughter. They said no. It must be some type of unknown blood disorder. I flipped. How can you not know what is wrong with her. You are the specialists and I come to you to diagnose her.
I refused to leave her side. The next 4 days were spent sleeping half way on a tray and leaning on a chair. I was afraid that if I left her she would not be there when I got back. She finally came around and was sent home several days later. Never was she diagnosed. And never did she have another episode. There was no testing for VLCAD yet. Our second daughter was born in Dec of 2004 and there was STILL no testing for it in my state.
Skip to August 20, 2006. I was pregnant with our third child. She was due on April 26, 2007. But she had other plans. Zoiey Annaleise arrived on March 31 at 1:34 in the morning. 1 month early. But she was a whopping 7 lbs 8 oz which is big for a month premature. And yes. They do consider her a preemie. She had no complications from birth or her earliness. Just wet lungs from not being squeezed accurately. Two courses of antibiotics cleared that up and she came home with me 2 days later.
The first week with her was uneventful. The day she turned 1 week old our phone rang. It was her pediatrician. I thought she was calling me to talk about her jaundice. She had a mild case of it and did not require photo-therapy. Man was I wrong. He told me that her "screening" had come back abnormally abnormal and I needed to bring her back to the hospital immediately. He did not know all of the details just that some levels of enzymes were high and they were too high to be a false positive. I panicked and said ok and brought her straight back.
She was readmitted to the NICU. A whole slew of testing was done. EKG, echocardiogram blood work and ultrasounds. They all came back perfectly within the ranges that they needed to be in. Nothing could be done because it was the Saturday before Easter and nothing could be guaranteed to be expedited to Baylor, which is where they send the acylcarnitine profile off to. I was to bring her back in if anything changed and needed to be in New Orleans first thing Monday morning to meet with the metabolic geneticist who does the testing of the Newborn inborn screenings. I said ok and we went home to ponder what had just happened. I did ask before we left what she had or they thought she had and was told that it was such a rare deficiency that no one here in the hospital, or anywhere for that matter, knew anything about it and he would be the one I needed to talk to.
We got there at 10:40 am. He told me my daughter had VLCAD. Now, I am the type of person who does not hold back when I do not know something. I ask questions. My brain could not compute all he told me. I was overwhelmed. All I could process was she does not have an enzyme to break down long chain fats. I was strictly nursing. I was not allowed to anymore. She would be put on Portagen the next day and it was to be mixed with no more than 4 ounces of my breastmilk in a 24 hour period. I was devastated. How can this be happening? The Dr wanted a skin biopsy. I wanted a second opinion. He got his skin biopsy and I got my second opinion.
The results came back and she has VLCAD-H. It is the 'mildest' and rarest form of the disorder. She still has EKGs and echo's done once a month and she is now on Pregestimil since her numbers have been good and she is lactose intolerant. The portagen is incomplete nutritionally and cannot be taken without my milk. L-Carnitine has also been added to her diet along with Zantec for her reflux. Her heart looks wonderful. And she is up to a whopping 10 lbs 12 oz. I couldn't be happier.
When we found out what they were telling us Zoiey might have and what the side effects were, we thought Fiona probably had the same thing. She had been asympomatic since she was 2½. We all still thought she should be tested to rule it out. Well, while we were in the process of doing that, she had her second episode. It hit a lot quicker this time. She complained of her stomach hurting her Wednesday night and threw up all night. I went into her room the next morning at 5 am and she was alert and responsive. By 9 am she was unresponsive and turning gray. I recognized what was happening and went into robot mode. I called 911. I then checked her sugar and it was 36. I fixed her a 6 ounce glass of pedialyte and begged her to drink it. I got about 2-3 oz in her and rechecked it. It was up to 40. The ambulance came and got an IV in her and saline started. Her blood was drawn again and expedited to Baylor. An EKG and echo was ordered for her and Zoiey's cardiologist was the one I requested to do it. It was all fine. No thickness and no fluid build up. Her results came back this week and they were positive. We are going this Tuesday to get her skin biopsy done and sent off. She will see the cardiologist once a year unless things change.
I am thankful for the screening being expanded because now we have the definitive answer as to what was wrong with Fiona and that chapter can now be closed. I would be glad to hear from anyone who can help me with this.
Thanks for listening,
Mother of Fiona-VLCAD and Zoiey-VLCAD-H
[Please Note: Summer 2008 ~ Our deepest condolences for the Craig Family. We were recently informed by one of our Louisiana Families that Zoiey had had complications from an illness (due to specific and unbelievable circumstances) and had died on May 2, 2008. When Jill feels up to it, she will update her story, but it could be far down the road. The Craigs are definitely in our thoughts and prayers during this sorrowful time.]