A LOVE STORY

“You’d be surprised at how healing unconditional love can be,” says Maddy Naude. She’s talking from experience: from the time her daughter, Nicela, was born, she has been fighting an extremely rare disorder called Klippel-Trenaunay syndrome – a fight she is thankfully winning. 

It was Nicela’s condition that made Maddy and her husband Jacques determined to adopt the little girl. “We had learnt about this baby who had been abandoned by her family. At the time, we knew she had a massive tumour on her chest, and her hand and arm were greatly enlarged – but we didn’t yet know it was Klippel-Trenaunay syndrome. We thought it was cancer, and had been told she had just four months to live.  

“Our hearts were broken at the thought of the raw deal this child had been given. We knew we had to give her a home, even if she would be with us for only a short while.” Naturally, the family were ecstatic when they learnt that Nicela’s condition was not terminal, and more importantly, could be treated. 

What is Klippel-Trenaunay syndrome?

The condition is usually identified at birth, when babies present with a pinkish birthmark (known as a port wine stain), often on the leg. This is caused by the presence of extra capillaries (blood vessels) in the skin’s top layer, as the syndrome causes problems in the growth of soft tissues (like skin and muscles), bones, blood vessels, and sometimes the lymphatic system. Other key symptoms include varicose veins on the legs, and hypertrophy (an increase in cells), often affecting one extremity or one side of the body. The condition is caused by genetic mutations, and affects around one in 100 000 babies.  

Professor Frank Graewe, a reconstructive and plastic surgeon at Mediclinic Louis Leipoldt in Cape Town, says if the condition is left untreated, various complications may occur. It’s likely that more haemangiomas (birthmarks) will develop, along with lymphatic malformations. “There may be skin breakdown and ulceration, bleeding and secondary infection,” he says, while issues related to varicose veins include paraesthesia (the sensation of pins and needles, caused when a nerve becomes irritated) and stasis ulcers, caused when fluid builds up in the skin, a result of poor vein function. 

Pulmonary emboli is also common, along with thrombophlebitis, leading to blood clots. Patients may additionally experience stasis dermatitis (skin inflammation also caused by poor vein function), haemorrhage and cellulitis, a skin infection. If limbs are enlarged, Professor Graewe says patients may also be affected by vertebral scoliosis and gait abnormalities, and limb function may become compromised later in life.  

In Nicela’s case, the syndrome caused vascular and lymphatic malformations, Professor Graewe explains, leaving her with hemihypertrophy of her body affecting her left arm and hand, as well as the left side of her chest well. “This means that the area is enlarged, compared to the other side,” he says. 

Walking a long road

“Before we knew more about her condition, our greatest concern was that the tumours caused by the syndrome were cancerous. We were appalled by the thought of the suffering she might endure,” Maddy recalls. This made the couple determined to walk this long road alongside Nicela.  

“Thankfully, however, we did have tremendous support from the community, family and friends. Jacques and I had a whole team of close friends who waited with us outside theatre every time Nicela had surgery.” 

Nicela’s smile and positive outlook have also encouraged many people with medical conditions, who say her bravery has given them the strength to cope with what they go through. “Even strangers who’ve  read her story on Facebook  have sent cards and balloons,” Maddy adds. 

“From the moment we adopted Nikki, we showered her with love and adoration. There has not been a single morning that she has not woken up with a beautiful smile. She is the light in our lives,” Maddy says. 

This brightness of spirit has allowed Nicela to flourish, even after the surgeries she’d undergone to improve her condition. Professor Graewe explains that these “debulking” procedures have focused on excising abnormal tissue. “This can be tricky, because we have to make sure that we don’t damage underlying structures like nerves and blood vessels – yet these can also be infiltrated by the abnormal tissue.” 

Maddy attributes her daughter’s stalwart attitude in the face of these surgeries to her will to live. Taking their cue from Nicela, she and Jacques have been equally quick to focus on all the positives in their lives. “We are so grateful that Nicela will lead a full life. She might look a bit different, but she has her whole life ahead of her.” 

Their optimistic outlook is well founded, says Professor Graewe. To date, Nicela’s outcomes have been very good; the improvements achieved through her surgeries mean that a great deal of the abnormal tissue has been removed. 

Good news indeed, especially since the disease is not progressive. This means it’s unlikely that further abnormal tissue will develop – but, says Professor Graewe, it’s important to keep an eye on the complications that may yet arise from the remaining tissue. 

Well-earned happiness

Maddy is realistic about what this means for her child. “There was an incident where Nicela needed surgery because her condition caused a blood clot. Unfortunately, because the syndrome involves lymphatic and vascular malformation, it can lead to internal bleeding and other complications that result when blood clots form as a result of bruising. But, although we’re ready for any of these eventualities, we’re not planning any other surgeries for now.” 

While she understand that Nicela may have to face further challenges in time, she is happy that her little girl is growing into a “very confident little lady”. Happy and well loved, Nicela’s self-assurance shows in the courtesy and respect she shows her peers, and the kindness that her teachers frequently remark on. 

“We are so grateful that Nicela will lead a full life. She might look a bit different, but she has her whole life ahead of her.”

Maddy Naude

That open heart extends to all around her, Maddy says. She absolutely adores animals, and dreams of one day running her own rescue shelter – a goal probably brought on by the fact that she plays mom to five chihuahuas and a mixed-breed rescue! 

Her favourite game to play with her mom and dad? “We love playing cards,” Maddy answers, adding that this is a bedtime ritual for the family. “We play in bed, just before tucking her in. She has to be the champ of four rounds to win – which she usually does – and then we give her a little floating trophy. She’s always ecstatic when she’s the champ!” 

The family’s happiness is well earned. Maddy acknowledges that Nicela’s time in hospital has been emotionally draining – which is why she counsels other families facing similar challenges to remember that, no matter what happens, they are good parents. “If I could give any advice, it would be to just love your child – give them all your support, heart and soul. And cry. Cry whenever you get the chance – just let it out.”

Images: New Media, supplied