Words Melissa Especkerman
When Patricia and her husband, Kenneth decided to try for a baby, it didn’t come easy or cheap. “We went to various gynaecologists and tried for over a year before we decided to embark on the IVF route,” says Patricia. But their patience definitely paid off when the couple found out they were expecting in March 2009.
The training and competency manager, who had always loved children and was excited at having her own, knew the changes having a child would bring. “I was more than willing, because, to me, it's nothing compared to this little bundle of joy that is living in me! I started reading everything about pregnancy and even parenting! Yes! Parenting! From communicating with my unborn, to teaching them well at various stages of their lives!”
Throughout her pregnancy, Patricia had been the envy of all her friends. She had no morning sickness, no water retention, no change in appetite, no mood swings and no change in skin conditions. In fact, her hair shined, her skin glowed and she oozed enthusiasm. And when she went into labour at 35 weeks gestation, she did not feel any pain. “I did not even have contraction pains during delivery, though the chart showed that I should be screaming my head off and feeling the pain at the tip of my hair!”
Born prematurely, Chloe was a very active and strong baby. But as she approached five months old, Patricia couldn’t help but notice some changes in Chloe. “She appeared exhausted from drinking her milk. She took at least an hour to finish her bottle of milk when a baby of her age should take no more than 30 minutes. She was also not rolling over from back to tummy.” It was then that she decided to consult Chloe’s paediatrician, who agreed that she was showing signs of slight developmental delay. By then, Chloe’s weight gain had fallen below average as well. She also had a protruding tongue. Concerned, the paediatrician ordered a down syndrome and a thyroid test but Patricia and Kenneth questions were still left unanswered when the results came out normal. Chloe was then referred to various specialists. She had appointments with hormone growth consultants, neurologists and more.
But before Chloe could see any of the specialists, she fell ill. She was then seven and half months old. “She was admitted for bronchitis. She had intermittent high fever for a week despite seeing several doctors,” remembers Patricia. Despite being in hospital, Chloe was active, leaving her parents to believe that there was nothing seriously wrong. But what happened next came as a shock. Little Chloe was hooked up to numerous machines, given a high dosage of oxygen and her parents were told she was in danger and they could have lost her if they had delayed any further.
Just when Patricia thought it couldn’t get any worse, one of the doctors who attended to Chloe ordered an X-ray and cardio-scan to be done on her. “At the cardiac centre, the cardiologist took a long time to scan her heart but appeared puzzled, unsure and worryingly silent. He did not answer us when we asked if there was something wrong.” After consulting another doctor and an agonizing thirty-minute wait, a senior consultant was called into the room... And just minutes later, Patricia’s world came crashing down.
In another room, Patricia was told that her daughter could have Spinal Muscular Atrophy or Pompe Disease and what the conditions meant. “We were stunned. We were told that our dear Chloe would not live beyond a year old and given her condition then, she might only have about two to three months to live. I kept telling myself it was most likely a misdiagnosis. We did not have a family history of such conditions and I refused to believe that something so rare and so unfortunate could happen to me.”
But Patricia did not have time to think of the future and what it would hold for Chloe. Her baby girl needed their immediate attention. “We concentrated on treating her bronchitis at the High Dependency Ward. During that period, doctors from various disciplines came to speak with us. Meanwhile, the fact started sinking in. We started to accept it and tried to stay positive. I knew, that as a mother, I needed to be strong for the family and for Chloe.”
Under the advice of a geneticist, Patricia and Kenneth sent their blood samples for testing. It was the only way they could confirm the condition Chloe was suffering from, as they were both carriers of defective genes.
With the blood results came Chloe’s diagnosis. She had Pompe Disease. Then came the true implications of what this disease meant for Chloe. Patricia was told that a third of such patients will pass on, even with treatment and among those who were treated; half of them might be wheel chair bound, require breathing aids and live on a liquid-only diet. But that was not all. The treatment came with a hefty price tag that would only increase with the patient’s body weight.
Ideally, babies diagnosed with Pompe disease should be treated before they turned six months old but by then Chloe was already almost eight months old. “The decision to treat her was tough because it will cost between $200,000 to $300,000 per year and we were looking at lifelong treatment until someone finds a cure.”
But Patricia and Kenneth were not alone in their battle against the disease. “Having strong faith and church mates who prayed alongside with us gave us the courage to press on.”
“Gradually, we started to receive support from the hospital, the pharmaceutical company and even people from the public. We tried raising funds via facebook and Chloe’s website
www.savechloe.com, and were very touched that people showered us with concern and support towards our initiative.”
Patricia knew that treatment was the only chance that Chloe had. “If I continue to just keep her by my side, she would soon be gone. But if I had started her on the treatment, she still had a chance to fight to live. And as her mother, I had no right to deny her of that chance.”
Living with Chloe’s disorder proved to be a challenge initially. “We were afraid of unforeseen circumstances or emergencies. We were afraid we lacked the necessary medical knowledge to care for her. We felt restricted and sad that we could not bring her out due to her weak immune system and all the inconveniences of lugging her medical equipment around.” But in time, the pair learnt what it took to care for her and they supported each other by having different roles and being there when the other was feeling down.
Patricia and Kenneth have since set up the Rare Disorders Society (Singapore) to create awareness of rare disorders, raise funds for patients, and provide counselling and other forms of assistance to families. “We believe God has sent Chloe to us for a purpose and we started to realize we should do more to help others out there and let them to know that they are not alone.”