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REAL-LIFE MUMS / Feb ‘2016

Charlotte’s Fight

Mum Laura with Baby Charlotte
REAL-LIFE MUMS / FEB ‘2016

Charlotte’s Fight

Mum, Laura, administers 13 medications a day to daughter 18-month-old Charlotte, who had her first operation at three days of age, and worries that just a common cold could prove lethal to her third child.

Words TANIA CONNOLLY

Charlotte’s gorgeous grin and serene temperament belie her extraordinary struggle for survival and tenacity to cling to life, as her tiny body is ravaged by a multitude of health issues. Her cherubic face lights up as four-year-old sister Isabella twirls nearby in her sky-blue dress, and seven-year-old brother Joshua chases a bouncing ball. Their mother, Laura, looks on with mixed emotions. She draws strength from spending time with her three children, and prefers not to dwell on the uncertainty of Charlotte’s life expectancy.

Charlotte and her siblings

Laura’s third pregnancy progressed similarly to her previous two and she had no qualms about attending the first trimester screening. An unexpected phone call requesting she visit the doctor’s rooms to discuss the result, “knocked the wind out of me,” she says.

The nuchal measurement on the back of her baby’s neck was 9.1mm, she’d been told, much higher than the standard 2.5mm – 3.5mm. She says, “They basically said the chance of a good outcome was very, very slim and I was more or less led to believe that she wouldn’t make it. It was not a viable pregnancy.”

Chorionic villus sampling (CVS), a check for genetic abnormalities, was arranged and Laura says all Charlotte’s chromosomes were fine and there was no indication of any syndromes. “So we breathed a sigh of relief and thought that everything would be fine with her,” she says.

The scan revealed Charlotte suffered from an extremely severe case of congenital diaphragmatic hernia – all her abdominal organs had migrated into her chest, inhibiting the area available for her heart and lungs to develop.
She dissolved into tears when the doctors recommended terminating the pregnancy, handing her a tablet to ingest to induce birth.

At 19 weeks Laura underwent an anatomy scan. When the sonographer consulted with others, Laura started to feel uneasy and suspected something might be wrong. Her suspicions were confirmed when they asked her to meet in the counselling room to review the findings.

The scan revealed Charlotte suffered from an extremely severe case of congenital diaphragmatic hernia – all her abdominal organs had migrated into her chest, inhibiting the area available for her heart and lungs to develop. The implication was insufficient lung tissue to enable Charlotte the ability to breathe.

“They said the chance of her surviving to term, and then making it to the surgery she’d have to have almost at birth, and on through to being discharged and having a healthy life, was almost non-existent. They said it was a less than 10 per cent chance,” Laura says; and adds, she dissolved into tears when the doctors recommended terminating the pregnancy, handing her a tablet to ingest to induce birth.

They believed if Charlotte survived to term and her operation was successful, it was likely that would be the extent of her issues.

That night Laura couldn’t sleep. Instead she researched the disease. Her Googling presented her with pictures of children with comparable prognoses, looking perfectly normal and leading relatively ordinary lives. The next morning she shared her discovery with her husband. They believed if Charlotte survived to term and her operation was successful, it was likely that would be the extent of her issues. They agreed to proceed with the pregnancy. Laura describes this pregnancy as “extremely stressful” and “tough both emotionally and physically”. Every ten days from 25 weeks until her caesarean at 38 weeks, Laura drove 100km each way from Northam to King Edward Hospital in Subiaco, to have two litres of amniotic fluid drained directly from her belly, because Charlotte wasn’t able to swallow and process it.

The days she didn’t feel many kicks Laura experienced a “sinking feeling” and wondered if Charlotte had already died.
“I don’t think I allowed myself to think about bringing a baby home just in case it didn’t happen. If anything I’d started thinking what was the memorial service going to look like?”

The days she didn’t feel many kicks Laura experienced a “sinking feeling” and wondered if Charlotte had already died. Laura says, “I’d almost started grieving her during the pregnancy as a form of self-preservation. I had no baby things out. I hadn’t got the cot ready. I had no clothes packed. I don’t think I allowed myself to think about bringing a baby home just in case it didn’t happen. If anything I’d started thinking what was the memorial service going to look like? How am I going to get through that? What do you do for a newborn no-one’s really ever going to meet?”

Charlotte arrived on 21st March 2015 and Laura says her baby had a tube down her throat and drains inserted before she was even cleaned. Transferred to Princess Margaret Hospital at seven hours old the tiny tot endured her first surgery at three days of age.

Charlotte

Charlotte was three and a half weeks old before Laura was allowed to cuddle her.

“I was nervous as anything to be honest. She was so fragile looking; she still had a machine basically breathing for her and tubes coming out of everywhere.”

Charlotte was three and a half weeks old before Laura was allowed to cuddle her. “I was nervous as anything to be honest. She was so fragile looking; she still had a machine basically breathing for her and tubes coming out of everywhere. I was terrified I was going to dislodge a tube, or move something, or block her mouth … I was just too scared to hug her too tightly. It was very nerve-wracking.” Up until that point Laura had been given strict instructions how to handle Charlotte. Gentle touching was fine, but stroking could create additional stress to her baby as she tried to process the sensation, which could result in her becoming unstable.

Charlotte went home at six weeks old but failed to thrive and returned two weeks later. Since then, Laura says, she hasn’t been home for more than three weeks at a time. “When we were first discharged we thought her diaphragmatic hernia had been repaired and we were good. That was it. She didn’t have a chromosomal issue. We thought we were taking home a healthy normal baby.”

Baby Charlotte

The geneticist noted Charlotte’s dysmorphic features – wide set eyes and low set ears which, she told Laura, are indicative of a genetic condition.

She explained that it’s not until babies are older that developmental delays, specific features and certain behaviours are noticed.

Unfortunately various investigations since have uncovered numerous anomalies within Charlotte’s complex anatomy. In her short life she has already undergone 13 surgeries, many to do with resolving feeding issues. Charlotte’s stomach simply doesn’t function so after unsuccessful attempts at breastfeeding, tubes have been placed up her nose, down her throat, directly into her stomach and currently she is fed via the duodenum.

With her hearing below par she has been fitted with bilateral grommets to drain excess fluid and had her adenoids removed. She has been diagnosed with epilepsy and cerebral palsy, has a bi-uvula palate abnormality, and her lower left rib is fused.

An MRI also depicted the brain’s layer of white matter, which conveys messages to the body’s muscles, to be noticeably thinner than average. The geneticist noted Charlotte’s dysmorphic features – wide set eyes and low set ears which, she told Laura, are indicative of a genetic condition. Laura says the geneticist openly admits she doesn’t understand the cause of Charlotte’s problems, other than finding a very minor duplication of one of her x chromosomes. She explained that it’s not until babies are older that developmental delays, specific features and certain behaviours are noticed.

Laura and Charlotte

Laura administers 13 medications a day to Charlotte, takes her to weekly specialist appointments and worries that a common cold could prove lethal.

Laura has been advised that Charlotte’s global developmental delay is at about a six months level and that her daughter will never sit unaided, walk or talk. She knows the risk of re-herniation is ever present, with scar tissue and adhesions adding complications to future procedures.

Laura administers 13 medications a day to Charlotte, takes her to weekly specialist appointments and worries that a common cold could prove lethal.

Laura concedes, “She is considered palliative and there is no cure: it’s just a case of managing and keeping her as comfortable as possible.”

Laura and her children

Although the impact of Charlotte’s ongoing challenges has resulted in Laura separating from her husband and their older children being confronted with their sister’s mortality, Laura would prefer to focus on the positives.

“She’s here and I think she’s here for a very good reason. She’s got a lovely temperament and so many people are inspired by this little girl.” Laura adds, “My hopes are just that she reaches her full potential and that she’s given the opportunity to be the best that she can be and be as comfortable as she can, for as long as she can.”

Tania Connolly is a freelance writer who has been published in a variety of magazines. Her passion is people and sharing their inspirational journeys. With a husband and two teenagers life is hectic but she wouldn’t want it any other way.