Katherine Hedges was born on 24 November 2014 at a hospital in Joburg. When she was born, her body was covered with rash-like pustules which blistered and scabbed. Her entire body apart from her neck and face was covered with these marks, with certain spots like the crown of her head particularly bad.
"Katherine was in neonatal ICU for the first week,” her dad, Richard, explained to Parent24. “We were given some Fucidin cream and sent home. After two weeks nothing had improved. We sought a second opinion at a hospital in Pretoria. We spent two more months in hospital, where Katherine was given multiple different antibiotics.
“Slowly but surely her skin improved, and we were sent home with more antibiotics. At around 3 or 4 months, her skin had healed brilliantly, and we thought all was okay. But it had only just started.”
We spoke to Richard Hedges about Katherine, his little “trooper”. From the day she was born and the months their family spent in hospital to the mischievous flicker in her eye today, this is their story of how she was finally diagnosed with one very rare disease.
The squint in her eye and the diagnosis that came after
Richard mapped their first few months in hospital, describing their week-long stay in the ICU just after Katherine was born.
The first thing the doctor asked was whether he or his wife Kathleen had herpes. “This was a shock. But when we saw all the sores on her skin, we knew something was wrong.”
It seemed like the sores weren’t getting better and he watched both his baby and his wife Kathleen in pain. “It was very tough on Kathleen too, because she was in the hospital ward without our baby in that little crib they usually put next to the mom's bed,” he continued.
“It was tough spending nearly a month in hospital, but luckily, as we had our own room, mom had a bed to sleep on and I would drive to Pretoria daily to visit and help wherever I could. We spent our first Christmas in hospital, but we were always positive.”
Our first Christmas, in the hospital.
“The thing is,” he explained, “when her skin got any better, a week later it would seem worse again, and it was this constant up-and-down cycle in her improvement that took a toll on us.
“We just hoped that it was something minor, and something medicine could fix.”
The worst part of it all, he said, was that “every cream they gave her, every test they did, every antibiotic had to be administered through needles inserted into her head. It was a terrible thing to hear your child scream like that. And it didn't get us any closer to knowing what the real underlying cause of her skin condition was, nor did any of the medicines have an effect.”
Fast forward a few months later, and Katherine did get a little better. "We were, of course, very relieved." But even then, they noticed a few things that made them wonder whether Katherine was going to be completely healthy.
“Katherine had always had a squint in one of her eyes, but the doctor informed us that babies squinted for the first few months and it corrected itself as they learned to focus. At 5 months, the squint was still apparent, and upon seeing a white reflection on her right eye in a flash photo, we thought to investigate. We then discovered that Katherine was blind in her right eye from complete retinal detachment.”
The squint and flicker in Katherine's right eye.
“This was devastating news for us, and we didn't know if it was perhaps linked to the skin condition she had at birth. We still went for regular check-ups and all seemed well, apart from her being slightly underweight – eating was, and still is a chore.”
But that wasn’t all, “Around two years had passed, and she still had no teeth. We were told repeatedly some kids teeth very late, but it seemed extremely late in this case.
"Her hair was quite wire-like. Thin and brittle. Her toenails were also curved slightly downward. When her teeth finally did come out they were oddly shaped, with some strange gaps in between.”
Richard said they had made a link between her symptoms and started investigating whether there was some kind of connection. A doctor suggested a genetic disease – incontinentia pigmenti – but their paediatrician said this was much too rare a disease and she didn’t think Katherine needed to be tested for it.
But as parents, Richard and Kathleen took the lead from the first doctor and felt they had no choice but to further investigate and seek help, even if it was all on their own at first. After what Richard describes as a “3-year roller-coaster of emotions” and having tests done all the way in the United Kingdom, Katherine was confirmed to have this very rare genetic defect called IP for short.
What is incontinentia pigmenti?
Incontinentia pigmenti (IP) is a rare genetic disease named after the way it looks under a microscope. It is also known as Bloch-Siemens syndrome, Bloch-Sulzberger disease/syndrome, melanoblastosis cutis and nevus pigmentosus systematicus.
IP is inherited in an X-linked dominant manner, meaning that it is more prevalent in females (carrying XX chromosomes). When males inherited it (males have XY chromosomes), it can be lethal. A female with IP may have inherited the IKBKG mutation from one of her parents, or have a new gene mutation, as IP is caused by mutations in a gene called NEMO.
As in Katherine’s case, IP sometimes occurs in infancy when a patient presents with a rash on their skin. It is therefore characterised by skin abnormalities that begin in early childhood – usually as blistering sores that heal – followed by the development of harder skin growths that may turn into grey or brown patches that fade with time.
The skin abnormalities after Katherine was born.
Other abnormalities, also seen in Katherine’s signs and symptoms, include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss, and lined or pitted finger and toenails.
More serious symptoms can include developmental delays, intellectual disability and seizures. But, Richard said, while there are neurological issues associated with the disease, fortunately none of these symptoms have manifested in Katherine and they are convinced her symptoms are strictly cosmetic.
Katherine, the “trooper”
Nevertheless, growing up with any sort of symptoms besides your usual growing pains can’t be easy. But Katherine’s been “an absolute trooper”, Richard said, even though she’s already been for quite a few eye procedures to fix the squint in her eye and push it forward in the socket, as it’s slightly smaller in size.
“Once she gets older, we will tackle each issue as it arises, but for now the big thing is making sure her healthy eye stays that way,” he said.
While things haven’t been easy, Katherine keeps on going, and growing! “She’s hit every other developmental milestone perfectly, and can speak 2 languages already!" he boasted. "She loves to read, and loves to play outside. She is fearless on the playground and does everything at speed! She is currently at a school in Melville, where she is in the pre-primary class and the school has been brilliant. She is loved by all her teachers and aftercare staff.
“Of course she has a favourite TV show – the animated Mr Bean series! Katherine is also very fond of everyone in the family, and she just has a way of melting everyone's hearts. She has a fantastic personality, and is a wonderful little person. We are very proud of her, and she surprises us non-stop with her bravery and determination.”
While she might have a few cosmetic issues, Katherine, being just 3 years old, isn’t really aware that she would have things to deal with that other children would not. And from everything he tells us about Katherine, we can understand why he says despite her disease, their little girl is “100%”.
“She has a heart of a warrior.
“She has adapted incredibly, she is like every other kid, and takes part in all activities with serious conviction. Apart from maybe bumping her head now and then on her blind side...”
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