Tylah’s Story (VLCAD) ~ Australia
Our much longed-for second child, Tylah, arrived in May, 2004. My husband and I were ecstatic when we heard the words, “It’s a girl!” What a blessing ~ a beautiful baby girl to go with our handsome 3 year-old-boy.
My labour was long and difficult, complicated by Tylah being in a posterior position. Eventually after the use of stirrups and forceps Tylah entered the world. She had APGARs of 9 and 10 respectively. I was so relieved to have such a healthy baby. I intended to breastfeed Tylah so we had out first attempt shortly after she was born. Unfortunately she didn’t latch on well and her ability to suck seemed weak. I was told not to worry and that we’d try again later.
Tylah was taken to the nursery as I was paralysed from the waist down due to a strong epidural block, and throughout the day (and then night) the nurses would bring her to me to be fed. Each time she failed to latch on, so I would express a few drops of colostrum and it would be fed to her through a syringe. Each time her body temperature would lower to the point where she would feel cold to touch. Each time the nurses would take her back to the nursery to be placed under a heater. (I will always wonder if I would have noticed Tylah’s symptoms sooner had I been able to spend that first day with her).
The next day the anaesthetic had worn off so I hurried to the nursery to see my little angel. A nurse was standing by her cot writing on her chart. She explained that Tylah had had a ‘mucous’ vomit, had turned blue and had needed some oxygen. I was reassured that this was quite normal and it was fine to take her to my room. I was concerned but also excited about being able to bond with my new baby.
Throughout the morning Tylah would not latch on to the breast and fed poorly. She would feel cold when I unwrapped her to change her nappy (diaper). She hardly cried ; when she did it was soft and feeble. She rarely opened her eyes ; when she did they stared vacantly, not responding to me at all. At noon I sat down and flipped through her chart. Tylah had had three mucous vomits since being born, requiring oxygen each time.
I went to the nursery to voice my concerns. I was told not to worry ~ some babies are tired after the trauma of birth, some swallow a lot of mucous in the womb, some have trouble maintaining their body temperature. although not convinced, I returned to my room.
I watched Tylah sleep. She just didn’t look right. Her breathing was shallow, her skin colour was grey, and there was a complete lack of movement. I returned to the nursery . Once again, I was reassured she was fine, given a pat on the back and told to go and rest. I walked out of the nursery only to turn around and walk back in again. This time I was given the “here she comes again” look. With what I now think was divine intervention, my paediatrician walked in shortly after (he was only visiting the nursery because a meeting he was scheduled to attend at the hospital had been cancelled).
Peter spent two minutes examining Tylah, and then she was gone ; then he was sitting beside me telling me “Your baby is very, very sick. I have to work on her now but I will speak to you later.” A nurse led me back to my room – it all seemed so surreal. I couldn’t stay in the room without my baby, so I walked into the NICU with nurses telling me it might be best not to watch what was happening. But I had to watch (I saw the distress on their faces when they couldn’t find a vein), I had to listen (I heard a nurse say Tylah’s blood glucose level was 1.9mmol/L), I had to know what was happening, even though it was obvious they (the nurses and doctors) had no idea why she was so ill. Eventually when they moved away from her I could see tubes protruding from her and leads attached (to many different monitors) to her tiny body while she lay lifeless in a humidity crib/incubator.
Peter ordered a chest x-ray, a head ultrasound and various blood and urine tests. He suspected Tylah was suffering from an infection, possibly picked up in the birth canal such as Strep B. I knew I had been tested for this whilst I was pregnant so I ruled it out. When the test results returned negative, he performed a lumbar puncture as he suspected a viral infection such as meningitis. Again the results showed nothing. A meeting was held with my obstetrician. Although difficult, the labour and birth (especially the use of forceps) could not have caused her poor health.
For days Tylah lay lifeless, with no positive signs coming until she was a week old. I know now that she was using all her strength to fight her way out of a coma. Tylah’s Newborn Screening Test was delayed until she was 7 days old because of her poor condition. Initial results showed a rare metabolic disorder, so the test was administered again, along with a urine metabolic screen and more blood work. At 2 weeks of age Tylah was finally well enough to leave hospital and we had our answer to her puzzling ill health ~ a fatty oxidation disorder called VLCAD (Very Long Chain Acyl Co-A Dehydrogenase Deficiency).
We were given strict instructions to feed her every 3 hours (not a problem as I had been expressing every 3 hours at home whilst she was still in hospital) and to NEVER let her fast (the cause of her initial episode). Peter was to be contacted at any sign of illness. An MRI was taken of her brain – it showed Tylah had suffered haemorrhaging in four different parts of her brain, with the largest and of most concern being at the base of the brain stem. Later scans have shown that the bleeding has stopped, but at this stage it’s unknown if any long-term brain damage has resulted (this is one of the reasons I’m so keen for Tylah to reach all her milestones).
At 3 weeks of age we met with a team of people at The Children’s Hospital at Westmead – most notably a clinical geneticist, a clinical nurse consultant and a metabolic dietitian. A skin biopsy was taken and has confirmed the diagnosis. This “team” gave us information about VLCAD and how to treat Tylah. We continue to see them regularly along with our wonderful paediatrician and Tylah’s dedicated GP who is our partner in keeping her well.
Tylah has been hospitalised 5 times due to illness but has not suffered another crisis (touch wood!). She is responding well to a low-fat/high carbohydrate diet, although her poor weight gain is concerning. At time of writing, Tylah is not taking any supplements but is given Polyjoule (a glucose syrup) when she is unwell. Tylah interacts well with others; she especially loves watching and playing with her big brother. Currently, at 12 months old, she is very small for her age and has a slight delay in the area of gross motor skills.
After searching on the internet for further information I came across the FOD Family Support Group and decided to join. The support and knowledge I have received online have been invaluable. Deb, Dan and family are truly inspirational and giving people. I have great respect and admiration for so many parents whom have had to deal (and are still dealing) with misdiagnosis/non-diagnosis, especially when their children have suffered devastating episodes as a result. My heart goes out to all who have lost their precious angels to these “silent killers.” I’m in awe of those who then have the strength to campaign for legislation for Newborn Screening in their states and/or countries.
After reading all the newsletters Deb s ent I wanted to tell Tylah’s story to encourage parents to trust their instincts. Have faith in your gut instincts ~ Tylah could have suffered a fate so much worse if I had continued to just sit in my room. In fact she might have been one of the 25% of infants who don’t survive their first crisis. Although expanded Newborn Screening is routine in my state, the results from it would have arrived too late in Tylah’s case. Of course I strongly advocate NBS for all babies, regardless of circumstance.
Twelve months on, I am thankful for so many things ~ for being blessed with 2 beautiful children and family and friends who helped us cope through such a terrible time. I now appreciate many simple things that I used to take for granted (whoever thought a mother would love to hear her baby cry!).
God bless to all those affected by these disorders, directly or indirectly.
Sydney, NSW, Australia