A MUM has told how her daughter had to have both her legs amputated after she was born with no bones in her shins.
Danielle Gibbs, 27, from Carmarthenshire, Wales, and her husband Michael were distraught after learning Freya, now 18 months, had been diagnosed with Bilateral Tibial Hemimelia (BTH).
BTH is extremely rare and is thought to affect only one in a million births. It is a deformity, partial or total absence of the tibia. In most cases, the cause is unknown.
Danielle was warned her daughter would never walk so made the heartbreaking decision to have Freya’s legs amputated on 18th February – to give her the opportunity to adapt to prosthetics at an early age.
Danielle, a manager at Tesco, told Fabulous Digital: “It was a hard decision to make, but we felt it was better to have both of Freya’s legs amputated and to let her get used to life without then from an early age.
“We could have tried to spend the next 15 years having endless painful operations, but we didn’t want to put her through it only for them not to work or for her to decide she wants an amputation anyway.
“This way she’ll never remember any different and we hope she’ll quickly adapt to life with prosthetics.”
Freya’s parents didn’t know anything was wrong with their baby until she was born at 3.15am on 7th September 2017 in Carmarthen, Wales – weighing 6lbs 8oz.
Danielle, a mum-of-two, said: “We didn’t find out about Freya’s condition until after she’d been born.
“When she arrived, doctors didn’t really know what was wrong. They tried to tell us it might be clubfoot at first. They kept her for a few minutes – they didn’t want to show us straight away.
“We thought that was quite normal as she was in the breech position so when they said the baby’s legs were bent we thought it might be down to that.
“But when we laid eyes on her, she thought: ‘We’re not sure if this is normal’.
“The bottom of her legs were bowed in – they couldn’t really move. Her feet were in an awkward position, her knees didn’t move and her legs were in a fixed position.
“A couple of weeks after having her, we got confirmation that it was Bilateral Tibial Hemimelia.
“The scans during my pregnancy didn’t pick up anything at all so it came as a bit of a shock.”
The family were then sent to Singleton Hospital in Swansea, Wales, to see a consultant when Freya was three weeks old, before they were referred to a specialist in Cardiff.
Danielle said: “They gave us an appointment to see orthopaedics three weeks after she was born, but in the meantime we did our own research.
What is Bilateral Tibial Hemimelia?
Bilateral Tibial Hhemimelia, is a deformity, partial or total absence of the tibia and is the rarest form of leg bone growth problems present at birth, it can also be associated with conditions affecting the arms.
There are likely to be foot and ankle deformities and the foot may have additional toes. The knee may be twisted inwards and may be unstable or completely dislocated.
It is extremely rare and is thought to affect only 1 in one million births. In most cases, the cause is unknown.
Severe cases are likely to be seen at scans during pregnancy, sometimes as early as 16 weeks of a pregnancy, but many are not picked up at this stage.
In most cases, there is often little option for reconstruction and amputation is the most likely outcome for children affected by the condition.
“We came across her condition during our search. We also got some opinions from other consultants while we waited. She had x-rays at three weeks to confirm that she had no tibia in either leg.
“When we found out it was Bilateral Tibial Hemimelia, we weren’t overly surprised, because we knew deep down that’s what it probably was.
“We spent three weeks looking into it. They say don’t turn to Google, but we did. When you get the confirmation it’s just sad as it makes it reality.
“We weren’t talked through our options at the time as our consultant had never seen it before or dealt with a case of it.
“He referred us to Cardiff where they specialise in orthopaedics. There was a surgeon there who had seen the case a couple of times.”
It was a hard decision to make, but we felt it was better to have both of Freya’s legs amputated
Danielle Gibbs
Freya waited for a couple of months to get an appointment.
Danielle said: “Freya was about four months old when she met with a consultant and surgeon.
“In the meantime, she’d had scans on her hips – at six weeks old – to check her hips weren’t dislocated or anything. Thankfully they were fine.
“Where we’d done our own research, we’d come across a surgeon in Florida called Dr Dror Paley.
“He was very into the saving of the leg – using using metal pins and cages that go around the legs and he does quite a lot of surgeries doing that.
“We did look into it, but because Freya has no bone there at all in one leg and just a tiny bit in the other, it would have meant 15 years of painful surgeries.
“We’d have had to travel over to America each time for them and it might not work so the end result could be amputation anyway. There was no guarantees it would even work.
“We didn’t want to put her through that just for her at the age of 16 to turn around and say: ‘Do you know what? I want an amputation anyway’.
“It’s in the early stages, the children who have had the surgery aren’t yet adults so you don’t know how it’ll be when they’re adults.
“We didn’t want to take that risk on it when we knew if she had the amputation at this age she wouldn’t miss out anything in life and would not know any different.
“She’ll learn how to adapt to prosthetics and will have always done things that way.
“Kids bounce back – if they want to do something they’ll do it, rather than an adult struggling, the kids will get on with it.”
Danielle added: “Freya didn’t hit the usual milestones children her age were reaching, but she learnt to crawl and shuffle around on her bum.
“She started walking around on her knees and could climb the stairs – she was good at finding her own way around.
“She just couldn’t stand up straight and walk. She babbled away and says ‘dad’ and ‘woof’. She’s got an older sister, Olivia, eight, so she speaks for her a lot of the time.
“Her op was scheduled for February. It was meant to be before that, but she had to have heart surgery before her legs were amputated.
“At four months old, the consultant did routine tests to check her heart, kidneys and liver.
“Sometimes the condition is known to affect those areas because the organs develop at the same time as the legs in the womb.
“The results came back and her liver and kidneys were fine, but she had PDA – a little whole in her heart that everyone has when they are born.
Before her operation we took lots of pictures of her legs. We even had them cast in plaster cast
Danielle Gibbs
“It’s meant to close itself in the first week and they usually leave children until the age of two or three if it doesn’t to see if it closes or gets any bigger.
“But because Freya was having further surgery to have it done there and then as it would have left her more prone to infection and more at risk.”
Freya underwent heart surgery on 5th September 2018 – two days before her birthday – at Bristol Children’s Hospital.
Danielle said: “She was in and out on the same day. They went through the vein in the groin and up that way with a little coil.
“She bounced back after it and was back to her happy-go-lucky self in no time.
“With her amputation it’s something we’ve been wanting for a long time. We knew it needed to be done for her.
“Her legs were starting to hold her back – she really wanted to walk and run about and play with other children.
“They’re all running around and she’s trying to keep up, crawling, we wanted her to be able to run around with them.”
The family will always remember Freya with legs.
Danielle said: “Before her operation we took lots of pictures of her legs. We even had them cast in plaster cast – so we’ll always have her little legs.”
The procedure took just over four hours at Cardiff Children’s Hospital.
Danielle said: “When she came back to the ward and we saw her, I just ran over and cried. I was so relieved.
“She was already up and really alert. She came around from the aesthetic really quickly.
Leave a Reply