February 29, 2020

Rare Disease Day 2020 – Patau Syndrome

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Meet Zaina, a child we have supported at Hannah’s House who has a rare chromosomal disorder.

  • Name: Zaina
  • Age: 2 years
  • Primary Diagnosis: Patau Syndrome/ Trisomy 13 Syndrome
  • Occurrence: 1 in 10,000 live births
  • More Info: http://bit.ly/2TaZDpn

What was it like receiving the news your child had been born with a rare chromosomal disorder?

In the first week after birth before the genetic results were out, the doctors kept coming at us with things that were ‘wrong’ with Zaina. First, it was her blindness, then her underdeveloped brain, then the kidneys and uterus and lastly her profound hearing loss. I remember my husband and I hugging each other crying, wondering how to communicate with a deaf-blind child-how will she tell us if she’s hungry, scared or wants to play? It was all too scary and unknown. On day 8, the genetics team came to us with the news that all this was due to an extra chromosome in her DNA that disrupted her normal course of development. We were told that her lifespan is short and that we should enjoy her while she is here with us. All we felt was relief upon knowing what caused all her symptoms, but also the dread that we might lose our precious firstborn any day.

How have you adjusted to Zaina’s day to day care needs?

Shortly after getting the news about her condition and after her discharge from the neonatal unit, we started to forget about what the doctors said regarding her passing away and started to learn how to care for a differently-abled child. Like ‘everything Zaina’, she surprised us in every way possible with the help and support of everyone from therapist to doctors at Perth Children’s Hospital. So we have adjusted to her day to day needs and try to adapt as they change every once in a while with the invaluable help of our respite nurses.

What does your life look like now – how are your day’s filled?

In her first year of life, we had daily appointments at the hospital with medical professionals for follow-ups, scans and X-rays. But now, the appointments are more with therapists and deaf/blind teachers that help Zaina reach her potential and improve developmentally.

How easy has it been to get the support you felt like you needed?

In the first month of having Zaina home from the NICU, we were struggling especially with the fact that we had to relocate from another country so we did not have the help of both my husband’s parents or mine. Also, my husband used to fly in and fly out to be able to support us financially. Our Social Worker at PMH was very understanding of our situation and contacted Hannah’s House to offer us support. They were generous enough and very understanding when Liz and Jules – our nurse at the time – came out to pay us a visit. Their support was lifesaving at a time we were about to fall apart.

How does Hannah’s House support help you?

Between pumping breast milk around the clock and Zaina having tummy troubles and screaming from pain all night as well as juggling appointments, I felt like I was losing my mind. Having Jules cuddle Zaina for the precious 6 hours of the day, twice a week meant I could feel more human.

Their continued support till now has helped me find some time for myself and to run errands without worrying about Zaina, knowing she is with people I can trust.

Thanks to Liz, Sarah, Jules, Makayla, Phoebe, Sky, Amy, Jai, Bethany and Melissa from Hannah’s House for their invaluable support. Our family could not do it without you.

 

💛 You can help Hannah’s House help provide care, comfort and joy for children just like Zaina. By visiting our donation page