When four-year-old Sammi spiked a fever in February, her parents, Alex and Mark, assumed she was coming down with a virus. Little did they know that just four months later, Sammi would be fighting for her life.
About a week after Sammi’s fever started, Alex noticed her daughter’s breathing had started to deteriorate and took her straight to their local Emergency Department.
“I still remember the doctors saying they could hear no breath sounds at all in the right side of her chest,” said Alex.
“We were quickly taken for an X-ray, which showed she had a complete whiteout of her right lung, which meant it was either filled with fluid or fluid completely surrounding it,” she added.
After several tests and scans, Sammi was taken to The Royal Children’s Hospital (RCH) where drains were placed in her chest in an attempt to get rid of the fluid.
However, the amount of fluid only increased.
For months, clinicians tried everything they could to get rid of it, from different diets to innovative procedures, but nothing was working.
“We kept thinking that every procedure would drain the fluid and then it would stop, but it never dried up. It just kept coming. Every time we put in a drain, it was like her body had a huge inflammatory response and she would produce more fluid,” Alex said.
After approximately three months of trying a variety of medications and procedures, Sammi’s clinical team began to suspect something more complicated – genetic abnormalities.
At this point, Sammi was draining around four litres of lymphatic fluid every day and her clinicians knew they needed to act quickly. So, they reached out to lymphatic specialists at The Children’s Hospital of Philadelphia, who recommended a series of precise and detailed tests to explore Sammi’s lymphatic system.
The lymphatic system is in charge of protecting the human body from infection and keeping a healthy balance of fluid.
“Sammi underwent a six-hour scan of her lymphatic system to determine whether there were abnormalities, what those abnormalities looked like, and to see whether they were the cause of these leakages,” Alex shared.
These tests revealed that Sammi had a harmful gene that was causing these leakages.
Fortunately, there was a new drug available that had shown some success in targeting and inhibiting Sammi’s rare genetic mutation. Unfortunately, the once bubbly four-year-old had been admitted to the intensive care unit (ICU) and was going downhill extremely quickly.
“We were basically racing against a clock. We knew that it would take two to four weeks to see any improvements from the medication,” Alex explained.
“She was fighting, and we were just watching and waiting for the medication to hopefully work. At this stage, everyone was just praying that this would be the answer,” she continued.
But weeks passed and the drug was having no effect.
Sammi’s entire chest began to fill with fluid. She developed pneumonia and her lungs began to fail.
“It was at this point that I said to our doctors, ‘I don’t want her to die with drains. Can we please take them out?’ And they said, ‘Yeah, absolutely. Let’s take her drains out. We’ll put her in some pajamas. We’ll wash her, we’ll do her hair, and we’ll take her drains out so you can hold her and say goodbye properly,’” Alex remembered.
As clinicians removed the very last drain, however, something incredible happened – the drug began to work.
Sammi’s oxygen saturation, which had been very low, suddenly came up back to 100 per cent.
“Everybody in the room, Mark, myself, our doctors and nurses all looked at each other. Clinical staff don’t tell you that your child is going to die if they believe there’s a chance that they will live,” Alex emphasised.
Sammi was moved back to the ICU, with her parents staying by her side all night.
“I don’t think Mark, or I slept. I watched the monitor all night, and every time her oxygen would drop, I’d close my eyes, and I’d say, ‘Please go back up,’” Alex shared.
Thankfully, Sammi went from strength to strength. Eventually, after 188 days in the RCH, Sammi was back at home.
With Sammi out of hospital and is starting kindergarten, Alex and Mark are excited to celebrate Christmas as a family of five – a thought that was out of reach not too long ago.
“Christmas this year will be incredibly special. I think we will be more grateful and more thankful for each other – more than we have ever been,” Alex said.
They also feel incredibly thankful to the RCH and donors for helping provide sick children like Sammi with the life-changing care they need.
“Every single donation makes a massive difference to ordinary families like ours; families who never expected that this would happen to them, because it can and it does every day,” Alex shared.