Claire’s Story (VLCAD)
Thank you so much for sending all the valuable information in the FOD Newsletters (via my sister-in-law, Donna Clark). Thank goodness we discovered your organization because without this we would know absolutely nothing about the condition which took our precious daughter’s life eight months ago.
Claire was a talented, intelligent and a very healthy ten-year-old who loved life cramming it with all the things she enjoyed; school, netball, competitive swimming, piano lessons, choir and dancing. She never sat still (and neither did we as we juggled all these activities with those of our two younger children, Cameron now 8 and Elizabeth aged 4).
Claire’s health had never given us any cause for concern. From the moment she was born she loved her food, she was breastfed for 2 years and was always a “good eater.” She encountered all the usual childhood illnesses of chicken pox, regular bouts of tonsillitis, the occasional bout of vomiting etc. but always made a complete recovery.
However, in late May 1997 the entire family, one by one, was hit by a dreadful flu-like virus, which seemed to have attacked everyone we spoke to. Claire managed to fight it off for longer than most but finally succumbed, around June 7. I immediately took her to the local emergency doctor (hoping the initial sore throat was as far as it would progress if treated quickly). She was prescribed some antibiotics but the doctor indicated that the virus would just have to run its course, as it did with each of us. So, for the next five days Claire felt lethargic, her whole body ached and her appetite waned. On the fifth day she started to improve so rapidly that she actually felt well enough to perform in the final performance of a large-scale “schools spectacular” concert (for which she had spent months rehearsing), dancing in 3 items, much to the delight of her family, teachers and friends.
Claire continued to improve over the weekend, playing in the park with her friends and visiting family friends. However, on the Monday afternoon (16th June) she began feeling quite ill again so I took her to our family doctor on Tuesday morning. She checked Claire thoroughly and felt that she was having a relapse of the virus or had maybe contracted yet another virus. She recommended fluids and rest but indicated that she’d like to see Claire if there was no improvement over the next couple of days. On Wednesday, Claire had some vomiting and was aching all over. By Thursday this hadn’t improved and she had a high temperature so we returned to the doctor who then found Claire had an ear infection and prescribed an antibiotic (which she didn’t take because of vomiting), panadol suppositories and fluids. By the next morning her temperature had returned to normal, the vomiting subsided and she actually ate some toast for breakfast. However, by the evening she was getting a sharp pain in her stomach, which was eased by a warm bath.
Following a restless night (drinking lots of water) she awoke feeling and looking worse. Her breathing was becoming labored and soon she began vomiting again. She begged me not to take her back to the doctor claiming she just wanted to stay in bed and rest (the fact that I didn’t INSIST at this point is an agonizing regret I will carry forever). Although she was vomiting on and off, she was taking in lots of fluids enough I thought, to replace what she was losing.
At about 6 p.m., she decided to get up and lie on the lounge to watch some TV. When she walked, she was unsteady on her feet. Then when she returned to bed an hour later, she yelled at me to “go and get my mother!” This really frightened me, even though she immediately realized her error. I then insisted we go to the hospital and she agreed, saying she felt too frightened to go to sleep.
The doctors at the hospital x-rayed her chest and found pneumonia on her right lung. She was dehydrated and her sugar level was very low. They immediately began a glucose drip. After about an hour someone felt her abdomen and Claire suddenly yelled in pain. Soon, specialists began arriving and feeling her tummy. They took us aside, explaining that her liver was very enlarged. They arranged for Claire’s immediate transfer by helicopter to the Children’s Hospital Westmead in Sydney (2 hours by road from Newcastle). I traveled with Claire and Neil was going to bring the children down by car early the next morning.
One hour after arriving in Sydney, while I was waiting to be taken to Claire, a nurse came into the waiting room looking very worried. She held my hand, paused for a moment and as my heart pounded with anguish she told me that my little girl was ‘gravely ill.’ She then took a deep breath and said “We don’t think Claire is going to make it.” The feelings that followed are indescribable. My little girl was in acute liver failure.
For the next 24 hours our brave little girl defied all expectations and ‘managed to cling to life; the only hope we were given was a liver transplant (a nationwide donor search had begun) and a’miracle’. Claire had been in a coma since her arrival at Sydney and by 8 a.m. was on maximum life support. As I looked at my precious child lying there, barely recognizable because of the bruising and swelling, unconscious, I knew in my heart that her poor body would never be able to tolerate such major surgery and that time was running out, yet I was unable to give up hope. I stroked her beautiful dark, wavy hair and told her how much I loved her. I kissed her soft delicate hands and begged her not to die.
At 3 a.m. on June 23d 1997 (our Elizabeth’s 4th birthday)…my little girl’s courageous heart could fight no longer. We stood by as the nurses frantically did all they could to help her. All the medical knowledge and equipment had failed her. I feel I had failed her also. I will never know a more helpless feeling. Our world had been torn apart.
We stayed with our precious girl for 7 hours; no machines, no tubes, no staff. Just our family spending our last moments as ‘the five of us.’ Our last moments with this adorable child, a wonderful daughter and sister. We were so numb, so exhausted, and so shocked that grasping reality was virtually impossible.
Over the following days and weeks, while still trying to come to terms with this catastrophe, we waited and wondered. Why? What could have brought about this horrific end to our little girl’s life? What could we have done to prevent it? The questions were endless. The doctors tried to prepare us for the possibility that an answer may never come.
However, after 4 months of ‘doing all that was humanly possible’ to find an answer, it finally came. Large deposits of fat had accumulated in Claire’s liver, kidneys, and heart and subsequent tests (in Adelaide, SA) indicated a fatty acid oxidation disorder. This answer brought with it so many mixed feelings and so many more questions. How could this energetic and healthy 10-year-old child have had a potentially fatal underlying condition all her life without it being determined? Why weren’t there any signs earlier? The news that this is a genetic condition was even harder to grasp. The fact that we, albeit unknowingly, had passed this condition on to our daughter and possibly to our younger children has taken a great deal of coming to terms with.
Trying to acquire some information about this condition was virtually impossible until, to our relief, my sister-in-law discovered your web site. This is ALL the information we have been able to locate.
Cameron and Elizabeth have had skin biopsies and urine samples taken which, with Claire’s samples, have been sent to France for testing (came back normal!) We have been told Claire had VLCAD and we have no information about this particular disorder. We would be eternally grateful for ANY information or contacts you could supply regarding VLCAD. We naturally feel a great need to gain insight and a better understanding of this condition.
Thank you for your time and help and the wonderful and important service you provide.
Wallsend NSW, Australia