Daniela had a traumatic birth, but once delivered, she seemed to be doing okay and Diana and Luis were thrilled to add a little girl to their family. Several nights later, though, Daniela did not wake up to feed and Diana knew something was wrong. At the Alberta Children’s Hospital, staff suspected she was having seizures and an ultrasound on her head showed shadows in her brain. Daniela was taken to the Edwards Family NICU. Staff got her onto anti-seizure meds and ran an EEG and an MRI. The MRI confirmed Daniela had a severe traumatic brain injury. Their neurologist said it was hard to predict the extent this would impact her life. Daniela also had elevated lactic acid, which can be indicative of a metabolic issue, so the family met with genetics. She stayed in hospital for two more weeks until she was stable and strong enough to go home.
Geneticist Dr. Al-Hertani was keen to find more answers for Daniela’s family. She applied for funding to have specialized testing done on Daniela’s DNA at a facility in Germany. On Diana’s second day back at work from maternity leave, she received a call from the Children’s: “We need to see you right away.” Dr. Al-Hertani gently explained Daniela had a rare metabolic disease called pyruvate dehydrogenase complex deficiency (PDCD). In her case, it was caused by a spontaneous gene mutation. One of the first things Diana read about PDCD is people with it don’t usually outlive childhood. Devastated, she cried for weeks. Finally, Luis gave her some tough love: “Diana, we need you. We have our baby here with us, let’s get moving.”
Dr. Al-Hertani along with a team of specialists from the hospital worked hard to get Daniela on exactly the right diet and treatments. Having PDCD means Daniela can’t metabolize carbs, so she is on a very precise version of a high-fat diet called the Ketogenic diet. A dairy allergy makes it especially challenging, since Daniela can’t have whipping cream or butter – two common Ketogenic foods. Diana says the first time she had to feed Daniela just a blob of margarine for lunch, “it broke my heart that’s all she got to have,” but she knew it’s what she had to do for her baby.
The family is so grateful for their team at the Children’s, especially Dr. Al-Hertani, who Diana describes as compassionate and dedicated. She makes herself available via phone and email and always answers their questions and calms their fears quickly. Dr. Al-Hertani encouraged Diana to join a support group and when she did, she found people living with the PDCD in their 20s and 30s, which gave her so much hope for Daniela’s future.
© 2018 Corus Radio, a division of Corus Entertainment Inc.