A rare genetic disorder means Eva Pym will stay smaller than most, but this adorable 18-month-old girl has a huge heart, writes Glen Williams.
They say good things come in small packages, and little Eva Pym is proof of that. She may be tiny, but this precious little girl is proving to be a big-hearted fi ghter and an endless source of joy and nspiration to her loving mum and dad, Katherine and Daniel. Eva was born full term weighing just .86kg (4.2lb). She came into the world with an extremely rare “genetic chromosome deletion” – which means her body is missing the vital “programming” it needs to know how to develop normally.
Compared to other 18-montholds, Eva, at 68cm, is tiny. Because of her condition, she may never grow taller and, as she gets older, the gap between her and other children of the same age will become even more pronounced. Her grandmother Noelene nicknamed her Thumbelina after the much-loved Hans Christian Andersen fairytale. Mum and Dad prefer to call her little Evie.
“Basically, she’s the only one in the world with her condition,” says Katherine, 27. “We only found out in July that Eva’s specifi c gene deletion has never been detected in any DNA test in the world. “Very little is known about the condition and there is very little information available, so Eva’s future is very uncertain. As parents, we are devastated that our daughter has to face the unknown, and that even doctors don’t know what to expect because they have never seen a case like it before.”
From the moment she was born in July 2010, Eva has been plagued with health issues. “It had been a normal pregnancy until the last trimester, when Eva stopped growing,” says Katherine. “[At birth] she was rushed to The Children’s Hospital at Westmead’s neonatal intensive care unit with major heart problems. Her heart was the size of her chest cavity instead of the normal 60 per cent. It was so frightening – Eva’s heart was racing at 200 beats per minute, which is about 90 per cent capacity.”
Doctors fought to bring Eva’s heart back to normal function, but she still wasn’t thriving. She developed sleep apnoea and wasn’t breathing properly. “Every single thing that could go wrong did go wrong,” says an emotionally spent Daniel. “Nothing could prepare us for this.”
For the devoted mum and dad, the last year has been a blur of specialist appointments, endless tests and traumatic hospital visits. “I think our little girl has been in hospital at least nine times in the last 12 months,” says Daniel, 34. “And the specialists we need to see form a mind-boggling list. We’ve lost track of how many X-rays and ultrasounds she’s had.” And through it all, this brave and inspirational little girl has managed to smile and delight others with her playful spirit.
“Eva is a little trouper,” says Katherine proudly. “She’s been put through the wringer, and I think she can handle anything.” She’s such a good little girl and takes everything in her stride. “She really is a happy baby. She’s playful and loves games, like any other child. She loves seeing other children. She just wants to grab them and kiss them. She’s so loving and adorable.”
When Woman’s Day visits the family’s Sydney home, Eva and her friend Scarlett are happily lost in a game. Scarlett, like other children Eva’s age, is substantially taller. But when it comes to little girls at play, size doesn’t matter.
“Eva tries her hardest in everything she does,” says Daniel. “I’m sure she knows she’s not the same as other kids – she observes them and knows. But she always gives 100 per cent, and has her own strong little personality.” Daniel admits he and Katherine worry about the future. “My biggest fear is that, as she gets older, she’s not going to look like every other kid, and kids can be so cruel when someone is different from them. It would absolutely break my heart if she was picked on in school.”
Fortunately, there have been some recent positive developments in Eva’s health. “Her sleep apnoea is being treated with an oxygen machine, which we are hopeful will give her a good night’s sleep – that really helps babies to grow with more strength and energy,” says Katherine. “We are hoping she can start hitting those developmental benchmarks.”
Daniel and Katherine are quick to pay tribute to their parents for their constant love and support during this difficult year. The couple are cautious when asked about having more children. “We’d love to,” says a teary Katherine. “But for now, our focus is on our beautiful little girl. It would be nice for her to have a brother to grow up with and protect her. We’ll see.”
“We are blessed,” says Daniel softly. “It’s an absolute miracle we got to leave the hospital. A lot of parents don’t even get the opportunity to bring their little ones home. We’re very thankful.”
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