Our beautiful daughter Lucia was born sneezing on 12th March 2012 weighing 8lb 6oz of perfection. Along with her brother Max our family was complete.
Following her initial checks after her birth, Daryn and I were told she had puffy legs and feet…but it was dismissed as probably the way she was lying in utero. It never crossed our minds again – until 2am the next morning when a Paediatrician visited us.
Suddenly Lucia’s puffy feet and legs were just one of a possible number of symptoms that could mean she was seriously ill. Heart problems, kidney problems, growth issues and learning difficulties echoed around the room…my head was swimming with fear and I remember finding it hard to breathe as I tried to understand what was happening.
Tests and diagnosis
Over the next 24 hours Lucia had to endure tests including heart and kidney scans, thyroid testing and chromosome tests. Thankfully, after six weeks we had all results confirmed as normal. We were then told that her ‘only’ symptom was Primary Lymphoedema – and that was ‘all’. We were then sent home – with no information, treatment options, nothing.
And so our Lymphoedema journey began. We researched as much as we could and started to learn what Lymphoedema was…and it was terrifying. ‘Progressive’, ‘chronic’, ‘lymphatic system failure’, ‘significant permanent swelling’ – we read these words regularly.
We realised how rare it was to be born with Lymphoedema. We read about the combination of treatments recommended to help maintain the swelling – and that the earlier this treatment was started the better. However, we weren’t being offered the expertise needed to learn the techniques to do this.
We discovered there were several different genetic mutations that caused Lymphoedema and that genetic testing could be carried out to identify particular types – yet we weren’t being offered this either.
We began to realise that the medical world knew very little about this condition and that we were going to have to fight for our daughter’s well being.
Primarily, we needed to find a Lymphoedema Physiotherapist. This was the direct support we needed and to our astonishment we found one – in a health centre five miles from home. We also wanted genetic testing. For both of these we needed referrals and we made sure we got them.
Our fab physio
Our Lymphoedema Physio has been our guardian angel! Lynne has become one of the most important people in our lives and we have been seeing her at least once a month since Lucia was five months old. She showed us how to carry out Manual Lymphatic Drainage on Lucia, which we do two to four times daily. She showed us our meticulous skincare regime and ensured we have a Podiatrist on hand to deal with problems that often arise with her toes. She introduced us to Kinesio Taping and arranged for a specialist company to measure Lucia for compression tights that don’t make her stand out too much.
She is on the other end of the phone at all times – even late on New Year’s Eve when Lucia’s foot was looking red and even more inflamed than usual. Her expertise, knowledge, advice and support is invaluable and through her we have gained confidence in meeting Lucia’s care needs.
She also helped us organise a get together with a few other families within Northern Ireland who have a child with Lymphoedema. It was a wonderful afternoon where the kids played and the parents shared experiences – what a relief to talk to others who understood.
Genetic testing and more
We also pushed to get Lucia referred to the Genetics Team in Belfast and have had several tests completed at St George’s Hospital in London under Professor Mortimer. So far no genetic link has been found but they are still looking in case Lucia’s type’ is a new, undiscovered one.
We are also keen to get a Lymphoscintigraphy test done to find out exactly where her issue lies. At the moment it is guess work that somewhere around her groin is affected, so through her therapy we try to redirect the lymphatic flow to her armpits. Lynne has been making enquiries and networking with surgeons to see when this could happen, but it looks like we will have to wait another few years. This doesn’t make sense to us…surely the sooner we find out where the issue lies we can tailor her therapy better?
As Lucia has grown, her Lymphoedema has manifested itself primarily in her right leg and foot though her left leg and foot carries fluid too. In daily life, many things that are taken for granted we have struggled with – namely clothes and shoes. We can only buy her certain brands of leggings that can be stretched, one type of sock, we cut elastic out of the bottom of trousers, ¾ length leggings are a no go and shoes have been a nightmare.
Her left foot fits anything – her right foot essentially fits nothing. She has one pair of shoes that we got by chance in Sainsbury’s. The straps only partially close but they do the job for now and allow her to walk outside. That first trip to the park was magical! She does tend to walk with a slight limp as her right leg must feel heavy – but in no way does it hold her back!
Lucia is an inspirational child and makes us so proud. She takes life in her stride, is a very strong, confident and feisty little girl who is always happy and full of joy and mischief! While we (constantly) worry in the background she just gets on with being a toddler and bringing light to our lives.
We very much look on the positive side of life and feel completely blessed to have the two amazing children we have. Yes, Lymphoedema is a horrible condition and we wish it wasn’t part of our lives – but it is, so we deal with it. Down days come and go but on the whole we see the silver lining. We are also very fortunate to have amazing support from our wonderful family to help us through any difficult times we may face.
A lot of research is ongoing into various areas of Lymphoedema and we hope that the future may bring something that will cure Lucia’s Lymphoedema so she can enjoy life without the limiting restraints that this condition brings.