Rhys’s Story

Conditions » Our Stories » Personal Stories » Tibial Hemimelia

Rhys was diagnosed with Tibial Hemimelia, which affects one child in every million born.

When I found out I was pregnant, I was really surprised but had wise words from my mum ‘your first instinct is always the right one’ and I knew I had to keep my baby. I was going to be a single mum but that didn’t matter as I would have my family and friends beside me to help.

I had a smooth pregnancy until my 20 week scan when the sonographer noticed something unusual and I was referred to fetal medicine. The appointment was for a couple of days later and my mum and I went to the scan. I was so anxious as I felt there was something wrong with my baby, call it mothers instinct, and I was right something was wrong. Anyway, they did the scan and my mum and I went for a coffee and were told to come back in half an hour’s time to discuss what they had found.

The findings were not good. My baby’s right leg would have to be amputated as the tibia was missing and the fibula bone was extremely short, beside his knee which was dislocated. His left leg appeared normal but had a fixed talipes foot. When they told me about the findings I was devastated and felt like it was my fault. They did offer me termination as I was only 20 years old, and they though I couldn’t cope with a disabled child.

After a traumatic labour, that lasted 3 days, my son, Rhys was born on 13th November 2006 by emergency c-section. In addition, to his leg condition, Rhys has extra toes – 7 on his right and 6 on his left. We had to stay in hospital for 9 days due to an infection (Group B Streptococcus) contracted through such a long and difficult labour; Rhys was also jaundiced.

Rhys had so many hospital appointments, they were coming out of my ears. I am not the most organised person, but Rhys’s appointments helped me to keep on top of things. He wasn’t an easy baby – suffering with colic from the age of 3 weeks old – and I felt like I was a nervous wreck all the time. Everytime he slept, I felt I had to wake him up if I didn’t see his chest rise or hear him breathing. I constantly thought that I was going to lose him and I was terrified at that thought. The condition he was born with, tibial hemimelia, is genetic with Rhys. Also the genetics team at Southampton had some DNA sent to Germany three years ago and have finally got some answers about his condition. Rhys was missing a section of DNA is not involved in the patterning of the upper limbs.

When Rhys was 8 weeks old, he had to undergo various x-rays to check his other bones had formed properly. The right leg we knew would have to be amputated. But there were problems with his left leg. His tibia was slightly short and the ankle wasn’t formed properly. I had to make an agonising decision about whether to try and reconstruct the ankle  – which can often lead to amputation later in life anyway –  or just a straight forward amputation through the ankle. I went with the straightforward amputation. No-one at the hospital knew what this condition was as no-one had seen it before. A couple of weeks later I received a letter from Rhys’ orthopaedic surgeon saying that they had matched the condition. Rhys was diagnosed with Tibial Hemimelia, which affects one child in every million born. It basically means absent and or abnormal tibia and hemimelia means half a limb. In Rhys’s case he had both things wrong with his tibia affecting both legs.

In September 2007, Rhys’s legs were both amputated, through his left ankle and just below his right knee. Rhys got his first prosthetics on March 10th 2008, and started having regular physiotherapy. Rhys actually started walking unaided on 13th August 2008. I’ve never been prouder of him.

But there was always the possibility that Rhys would need to have another amputation done on his right leg which would be through the knee. Rhys’s orthopedic consultant surgeon had been hoping there would be some bone growth to attach to the short fibula bone, to form a shin, so that Rhys would have a better way in life. Unfortunately, this didn’t happen and an x-ray and ultrasound scan confirmed that Rhys needed to have the more extensive amputation. After all the progress that Rhys had made with his prosthetic legs, I felt devastated but also kind of relieved that this would be hopefully the last operation.

Rhys recovered quickly and was crawling around before I knew it. He was walking unaided with his prosthetic legs again in February 09 .

2017 Update Rhys is growing up so fast;  Doing lots of activities. He got a certificate for determination for the ‘Earthquake Adventure’ course at Stubbington back in November 2016. He has also been doing swimming with the school. He smashed it. Shocking all the children and teachers with with swimming. I think they though he wouldn’t be able to swim. On the first day of it. The whole class nominated Rhys for star of the day because of his swimming. His teacher said she felt really overwhelmed and proud of him. At the end of the term Rhys got a certificate for his swimming level 4!

I am currently looking at getting Rhys into paralympic swimming. He’s so strong willed and an amazing swimmer.

Rhys also participates in after school clubs playing football – defending position. And multi sports too. Which includes hockey, dodgeball table tennis etc.

Nothing holds him back. Super proud of him and having Rhys is the best thing that’s ever happened to me.

Along with all of this that was going on in his life, Rhys also had bowel problems and suffers from severe constipation. I have been saying all along that this was due to the condition he was born with but no one would listen to me. I did some surfing on the hemimelia website and there is evidence that Tibial Hemimelia can affect the bowels, so doctors are investigating, and suggested that Rhys may have a weakened bowel. He has been on numerous medicines to help him go to the toilet.

I did at one point suffer with really bad postnatal depression as I was quite far from my family and friends. But with their help I overcame it and become a stronger person for it.

Rhys will always be my special little boy and he deserves so much because he has been through so much trauma the last couple of years.