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Sheryl Pjetraj, 36, Sutherland Shire, NSW
My daughter smiled widely as I opened her bedroom door.
‘Good morning Mummy!’ Skyla, 23 months, said, flinging her arms open wide for a hug. I leant down to scoop her into a cuddle. Although she couldn’t be happier, holding her emaciated frame reminded me of how ill she really is.
Skyla’s never been a big eater. She never cried for food and when I tried to breastfeed her she’d pulled away. It was worrying. We’d never had that trouble with her older sister, Soraya, three.
Despite being born a healthy 3.035 kilos, Skyla’s weight soon plummeted to well below the average. ‘Something isn’t right,’ I said to my husband Eric, 41.
‘You can’t be feeding her properly,’ an early childhood nurse said. ‘Maybe there’s a problem with your breast milk.’ I was taken aback. It wasn’t the support I was after. Still, I tried giving Skyla formula instead but she didn’t have an appetite for that either. At seven months, still in newborn clothes, she was clearly failing to thrive.
‘Something isn’t right,’ I said to my husband.
‘She might have a genetic disorder or a chromosomal abnormality,’ a paediatrician suggested, taking samples of her blood to test. The thought sent a shiver up my spine. Perhaps she’s just skinny, I hoped. It wasn’t completely unreasonable. In other areas Skyla had hit all her milestones, rolling over, sitting up and crawling at the same age Soraya had. But I couldn’t shake the horrible feeling something wasn’t right.
Five days before Skyla’s first birthday, the doctor called with her results. ‘She’s going to be okay,’ he started. ‘But she has a rare syndrome.’
The doctor explained Skyla has a disorder known as Potocki-Lupski syndrome or PTLS. It occurs when there’s a micro-duplication on a chromosome. First identified in 1996, it’s so rare only around 1000 people are known to have it. ‘I’m afraid I can’t tell you much about it at this stage,’ he said. ‘But it’s not known to be fatal.’ My mind whirled. What did this mean for my little girl?
Skyla’s diagnosis presented more questions than answers. Eric and I researched PTLS online. The stories about children affected broke our hearts. Some couldn’t walk without help and others had severe learning disabilities. This filled me with fear. Was this to be Skyla’s future?
Reading more, I realised PTLS affects people in so many ways, it was impossible to tell how our daughter’s life would be different. Her failure to thrive was a key symptom, as was her low muscle tone and lack of appetite. But another characteristic was one of her best traits – her happy, friendly nature.
On Facebook, I found a community of people affected by PTLS and got chatting to a lady named Julie, who is the president of the PTLS Foundation. Her 28-year-old son has the condition. ‘Don’t underestimate what Skyla’s capable of,’ she assured me. ‘Keep your expectations high and she’ll do everything Soraya can.’
‘Don’t underestimate what Skyla’s capable of.’
Her words gave me hope. So Eric and I enrolled Skyla in day care and, incredibly, she thrived. It was as though I’d dropped off an infant and picked up a toddler!
‘PTLS kids learn by mimicking their peers,’ Julie told me. ‘So being around other children is extremely educational.’ That little piece of information felt so enlightening.
Desperate to find out more to help Skyla, I read about a conference held in the US every two years to update families on the latest research into PTLS. ‘You should take Skyla,’ my sister-in-law Emily, 36, suggested.
Emily and my brother Lee, 38, live in Indianapolis but there was no point getting excited about a visit. We’d never be able to afford it. ‘I’ll set up a fundraising page for you,’ Emily said. ‘People will want you to go.’
I was reluctant to agree at first but money was tight. One month earlier, I’d injured my back picking up Skyla so Eric had been off work caring for me too. Once Emily launched the page on Go Fund Me, I was stunned by the response. Within three months we’d raised nearly $10,000, and my employer kindly covered the cost of our flights.
Travelling to America in July, we were thrilled to spend five days with Emily and Lee before heading to the conference in Texas. Walking in, I was greeted by Dr Potocki, who the disorder was named after. ‘You must be Skyla’s mum,’ she smiled. I was overwhelmed by how warm and friendly she was.
Over the next three days we listened to the latest PTLS research and took Skyla to Dr Potocki’s office so our daughter’s records could be added to her investigation. We also met Julie and her son Christian, who gave a presentation at the conference. I was inspired by how intelligent and articulate he is. ‘Anything’s possible for our girl,’ I whispered to Eric, squeezing his hand.
We also learnt how vigilant we’d have to be in testing for all the medical possibilities. PTLS can impact the function of the heart, eyes and hearing. Thankfully, Skyla doesn’t appear to be affected at this stage. She has regular physio and speech therapy to help her development and we still struggle to interest her in food. But she’s thriving at day care and I hope she’ll go on to attend school with her sister Soraya too.
Despite what Skyla’s up against, our little battler never complains. With her sunny disposition and that incredibly beautiful smile, she inspires us every day.
Originally published in that’s life! issue 35 2015, cover date 3 September 2015.
Potocki-Lupski Syndrome
– PTLS is also known as duplication 17p11.2 syndrome as it involves microduplication of band 11.2 on chromosome 17. This occurs when the egg or the sperm is formed.
– The first comprehensive study on PTLS was done in 2007. It has since been named after Lorraine Potocki and James Lupski of the Baylor College of Medicine in Texas, USA.
– Symptoms include failure to thrive in infancy, delayed motor and verbal skills plus behavioural traits similar to autism.
– A happy disposition is common as well as an affectionate nature.
You can donate to help support Skyla.
For more information, visit ptlsfoundation.org
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