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?
Daily life
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!
Proud parents
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.
I’ve had secondary lymphoedema since 1995 following Ca Cx. Last November I went to the Wittlinger Clinic in Austria. The clinic specialises in treatment for lymphoedema and lipodema, predominantly with massage. They do run training courses whereby you could learn how to massage effectively and bandage (if necessary) which could help control the swelling for your daughter. Learning to be a Therapist may be of beneficial for you as a family. I think it is something that I would look in to and please forgive me if you’ve already considered this. I wish you well as a family, your family picture is lovely. God Bless
Hi Annie, thanks so much for your comments and advice. It is all greatly appreciated and we certainly look into every avenue that may help Lucia in the future. We haven’t heard of this clinic so we’ll be sure to look it up.
I was 13 when Primary Lymphoedema first appeared in my legs. I’m now 38 and amazed that still after all this time there’s still such medical ignorance out there. BUT in the last few years there has been so much research and trials of transplants, stem cell operations, microsurgery and genetic testing that I believe that today’s affected young children will not have to suffer Lymphoedema for their whole lives. I have 2 children, that so far do not show any signs of Lymphoedema and coincidentally their middle names are Lucia and Maxwell. All the very best with your journey ahead – it’s great that you’re doing mld at home 2-4 times a day, it’ll make an amazing difference for her. Best wishes, Fleur
Hi Fleur, thanks so much for commenting. And good middle name choices! It is wonderful to hear neither of your children are showing symptoms and I hope that you are coping ok with your Lymphoedema. The research going on at the moment is very encouraging and we too hope that there will be something that will be able to help Lucia in the future. Take care
Hi
I was also 13, the same as Fleur ,when my symptoms appeared. It took 2 years with painful swelling before a doctor discovered what my condition was.
I have Primary Lymphoedema in my right leg and today( I’m 32) I barely think about it even though it is quite large compared to my left leg.
It did make my teenage years somewhat more complicated and confusing but I had a great family and friends who supported me.
I believe Your daughter will have a life where here Lymphoedeme is in the background.
Yes it will probably be extremely irritating when she goes shopping in her teens (and later) and there isn’t a single trouser in the store that fits but the happiness when she finally finds a trouser that fits perfectly is a thousand times bigger 🙂
I have to bandage my leg every night and on bad days, I wear tight fitting stockings. But I have my Lymphoedema under control and it’s not a big issue in my life.
Your daughter is lucky to have you as her parents. You really are doing all the right things!
Hi Tina, thanks for commenting and the info on the teenage years! I can imagine they will be difficult for Lucia and all of us at times but then most teens have difficult periods! I do worry about getting clothes to fit when she is older but love your point about the happiness you feel when you find something that does fit! You sound like you have had a happy life so far and that is all we want for her too…and she is a bundle of joy 🙂
I am so happy your Lymphoedema is in the background of your life, that is our aim too and Lucia’s personality ensures that! Thanks again for reading and commenting x
HI guys.
I came across this and started to well up, I’m 20 and I too was born with primary lymphoedema (though mine is in my left leg). Reading about your struggle reminds me of years of worry and distress on my parents part, not knowing what would happen in regards to my health from one day to the next, but it does get easier – they don’t worry so much now that I’m older!
Lucia will go through difficulties and confusion as she gets older, as any child or indeed adult does as they adjust to life with an illness, but she’ll be stronger and kinder for it. Sounds like she’s got an amazing amount of support behind her.
I never thought that I’d be able to carry out any of my ambitions due to the pain and swelling that occurs when I walk, and although I’m not nursing (which was my goal in life), I’m a carer. 12 hour shifts, sitting down for 15 minutes here and there, it’s worth it!
Professor Mortimer is great, though it’s a trek from Yorkshire to London, as I can only imagine it is from Ireland. I was also under Wharfedale hospital, though due to my own stubbornness and idiocy, I was discharged as I stopped going to appointments.
Lucia will be fine and she’ll learn to cope in her own way, it’s not a pleasant illness though as I said before, it will make her the person that she is, and if her big brother is anything like mine, then he’ll be the most supporting and caring brother of all.
I wish your lovely little family all the best and if you ever need to talk then my email is below.
Sarah Wilkinson.
Sarahewilkinson1993@gmail.com
Hi Sarah, thanks so much for commenting. It makes me so happy to hear your Lymphoedema has not held you back in life and you are happy – this is all we want for Lucia so your post has been inspiring. Thank you for your email, I will be in touch. Take care
Contact Jovipak for nighttime compression garments
Thank you for sharing your experiences. It means a lot to others to realise that they are not alone. My daughter, now 13, has recently been diagnosed with primary lymphoedema. With the wearing of a compression stocking, she can now wear shoes which fit both her feet. What a relief!
Hi Christina, thank you so much for reading and commenting. I am so glad it helps you to hear of others in the same situation – that was the main aim of this blog. Fantastic news about the shoes!! I totally understand how stressful it is to not be able to find shoes – something that is taken so much for granted. I am sure your daughter is delighted. Please keep reading!
When I read your post I had a flashback from 4 years ago. Our son (Ofer) is now 4.5 years old with primary lymphoedema in all limbs from the fingers/toes to the elbows/knees.
We have been and still are experiencing similar experiences. The diagnostic stage with the frustration of not knowing you have the perfect child (we have I know :-)), the doctors who are uninformed of what is Lymphoedema and swear in Hippocrates’s name that the child is chubby that’s all, seeking for the right consultation, the right therapist, finding this guardian angel (ours has a similar name to our son – Ofra), crying at nights and smiling during days, worrying for every thing – from the scratch to more severe wounds, learning to conduct MLD’s, to put the bandages, taking care for the bandages supply and the arrangements with the healthcare services……
this is a full time yet rewarding job.
As I mentioned Ofer is 4.5 years old. Ofer was formally diagnosed when he was about 6 months old. In order to understand better the reasons for the problem, we also had genetic testings. there were no results-no gene mutation associated with lymphoedema were found. The genetic tests were conducted by Prof. Vikkula from Université catholique de Louvain. Every few years we check up on him to see if new findings are available but till now there are no news.
I hope you (and we) will find the strength to continue with these efforts and raise as normal children as possible.
Thank you for sharing. I find it comforting knowing we are not alone.
Niv
Hi Niv, thank you so much for reading and commenting. Your last line really made me smile as the main reason we decided to start this blog was to connect with other parents in similar situations and I am so glad you found it comforting. Since Lucia was diagnosed we have not been able to find much online to relate to at all so our thinking behind this was to try and fill that gap to help others find some similar experiences. I have no doubt your little boy is a happy one and takes life in his stride. Lucia is amazing – her Lymphoedema does not hold her back one bit and she is a strong and feisty child who I know will continue to thrive regardless of her condition. It is the mums and dads who do the worrying so the children can grow up care free! Take care
MLD UK is also another good resource
Hi Donna, many thanks for the info. I haven’t checked out that site so will do.
My son was born with lymphoedema in his right leg/foot/groin 19 years ago and we were lucky enough to be referred to Prof. Mortimer at St. Georges in Tooting almost immediately. I just wanted to let you know that from the age of 18 months he has been regularly fitted for NHS shoes and trainers as well as compression stockings and toe gloves. It is essential to have these shoes since, not only do they fit each foot properly, giving the necessary support, but they also have a slight lift in one to compensate for the extra length of his swollen leg, thus avoiding any future problems with his hips. There is a relatively wide selection available and they are modern in appearance – unlike designs of yesteryear!!
I hope you are able to access a similar service – it is imperative that your daughter is able to get the footwear she needs and deserves – you don’t want to squash her dainty little toes and cause her discomfort.
No doubt you will have endless worries, overcome them and move on to the next lot. I can only say that my son is now at University and my current worry is ‘how often is he wearing/washing his stockings?!’. He is not remotely worried – that’s what he has got parents for!!
I wish you well and have no doubt from your blog that Lucia will continue to thrive – she sounds like a bit of a tomboy, so I think you’ll have your hands full.
Hi Claire, thanks so much for commenting. I am sure your son is having a great time at university and as you say, why worry when you have parents for that?! I can already imagine the days (not too far away by the looks of things) when Lucia will refuse the tights – I am already thinking of bribery methods! Good to know about the shoes too – I know I have always been reluctant to go down the NHS route for fear of her looking like she has ‘special shoes’ but I will have a chat with our physio when we next see her. Until then I think we have found an alternative – next blog post! Take care
Have you heard about the lymph node transfer surgical procedure?
You can find more information on http://www.lymphoedemacenter.com. Dr Becker is a pioneer in that technique and a very helpful person.
I hope this can help.
Hi, yes we have heard of this procedure and of Dr Becker. She is doing amazing things and we are keenly keeping an eye on it and the hope it may hold for Lucia in the future. I will check out this link now. Thanks so much 🙂
Hi. Thank you so much for sharing your story. I’m 21 weeks pregnant with a little girl who is showing puffy feet and legs. We are very lucky that over the last few days we have had loads of information and support. We seem to be lucky that it has been spotted. We will be having regular scans until our girl is born to see if the lymphodema spreads. We are right at the start of our journey but reading this has made me feel positive. We have been offered full genetic testing, which we will have done once she’s born.
Thank you again
Holly x
Hi Holly, Thanks so much for getting in touch and I am so so glad that you have found a bit of comfort from the blog. I am sorry to hear your little girl is showing signs of Lymphoedema but on the plus side it is good that it has been picked now as it gives you time to research before her arrival. I am delighted to hear you are getting lots of info and support – that will be invaluable. But rest assured that your little girl will be wonderful and won’t miss out on a thing. I hope you can tell from the blog that Lucia is a happy healthy child who is on the go constantly. Kids are amazing and can adapt to anything – especially when they don’t know any different. She is adventurous, has no fear and gets involved in everything – I am the worrier in the background while she just gets on like any other 2 year old! If you have any questions or worries that I can maybe help you with please do not hesitate to get in touch as I know exactly how you feel. I hope you are feeling well with the pregnancy and can enjoy this wonderful time xx
What a lovely reply. Thank you for taking the time and I will be following your journey xx