Thank you for taking the time to visit our page... Team Lucia are taking part in the Manchester 10K to raise awareness of 22q11 deletion Syndrome and the fabulous work that Max Appeal do!

We are hoping to have 22 people taking part, we have runners, joggers, walkers, old and young, all wearing the Max Appeal teeshirt for 'Team Lucia'... Our aim, as already said, is to raise as much awareness as possible and if possible a few ££££'s for Max Appeal, along the way.

Lucia Reed is a 2 year old little girl who has 22q11 deletion syndrome and is close to all the hearts of those who are part of Team Lucia. Her mummy, Philippa, also taking part with Lucia's daddy, Steve, wrote Lucia's (and their family's) story below and how Max Appeal help them as a family;

Firstly, a huge thank you to Team Lucia from, myself, Steve, Joseph and Lucia, we are can't thank you enough for doing this with us xxx Many people already know our story, for those that don't and those who do, here is a recent update from the start to now, Feb'16. It's rather long but here goes...

Our beautiful Lucia arrived into the world at 9:02 on Thursday 19th September 2013, 3 weeks early, weighing 5lb 13oz. She was so teeny, like a little doll, she is still quite small and dainty now :)

We noticed that she wasn't reaching some major milestones quite early on so was monitored by different health professionals from being a few weeks old.

We were so relieved and starting to relax as she was showing great signs of improvement but then in the June of 2014, at 9 months old, she started having clonic-tonic, seizures and was diagnosed with epilepsy. She spent 2 weeks in and out of hospital with a variety of different scans and tests being done to her. It was utterly heartbreaking seeing our little girl go through so much! Lucia took it all in her stride though, she was happy and smiley, winning all the doctors and nurses over that we met with!

Not long after the tests, we were called in to see her paediatrician where he told us that one of her blood tests had shown a genetic disorder called 22q11 deletion syndrome. It felt, to me, at this moment that our whole world changed, I didn't know what to think or feel as I had never heard of her syndrome and so many things were racing through my mind. Time passed in a daze as her lovely doctor gave us as much information as possible and during this time Max Appeal was mentioned.

We, as well as other family members, registered with Max Appeal almost straight away and joined a parents support network online, the support and advice we have received through these pages has been invaluable!

I was told on the main support page to be prepared that due to the varied symptoms of 22q (180 in total) we would get used to knowing more about 22q than most medical professionals, they weren't wrong! We have to explain Lucia's syndrome to most people that we meet, including medical professionals, but thanks to the parents document sent through from Max Appeal we now know all there is to know and anything we don't, we know where to ask! We also received a consensus document that we can hand to any doctor that explains in detail how each symptom should be treated - We have a file that comes to EVERY appointment we attend (of which there are many!) and the consensus is ready to whip out when needed!!!

Soon after her diagnosis, she again had to go through so many tests, it was such a stressful and difficult time but thankfully the results came back and showed she has none of the life threatening symptoms; her heart and kidneys are fine and her immunity, although slightly low is not majorly impaired - she still picks up the bugs and viruses like every other child it just seems to take her that little bit longer to shift them! Her epileptic seizures are still, thankfully, under control, with medication she has twice daily!

She does have problems with her eyes, divergent squints in both eyes means she only uses one eye at a time resulting in 2D vision. Everything Lucia sees is in 2D and she always will, she has no perception of depth and struggles in unfamiliar places as she will not see steps or change in surface as we see them. She will need surgery on them both eyes at a later date and regularly attend the eye hospital in Manchester to make sure he sight is developing correctly, for her.

She also has low tone, meaning her muscles are over flexible so it was harder for her to learn to walk, however our little trooper mastered this at about 22 months, after monthly Physio and weekly hydro therapy. She quite happily stomps most places now but does tire quite quickly, as her little body needs to do extra work to move her looser muscles.

Due to her low tone she does also have a few problems with her palate and has monthly appointments with speech and language as well as being seen every 3 months by a palate team. She has recently started saying a few words and uses them with some sign language, which we have been using with her a quite a while now. She understandably can get frustrated when she can't communicate what she needs/wants but we hope with teaching her more signs she'll be able to get her point across a bit easier!

Other symptoms of 22q are Glue Ear and recurrent ear infections, these are something Lucia has struggled with quite a lot over the last few months and will be having a little operation in March'16 on her ears. We are hoping this will help not only solve this but also help her understand us better and help with her speech!

Although she has had global development delay and was quite obviously delayed a couple of months ago, she is now coming along in leaps and bounds, she is even starting to catch some of her peers up. However with 22q there are a lot of developmental/mental symptoms we won't know how/if she will be affected with for some time yet.

Over the last almost 2 years I, a natural worrier, have had to try to learn to take each day as it comes and deal with things as and when they arise, rather than worry about the 'what ifs'. Some days, I'd be lying if I said I didn't struggle with this and worry about what the future may/may not hold for our gorgeous girl. This is when the Max Appeal support page a god send, I can vent with people who understand completely how I feel and there is always someone there to lend an ear or offer advice when needed!!

Lucia is adored by everyone that meets her, she's such a happy little girl and an absolute delight to be around. She is at her happiest when she is playing with her big brother, who adores her just as much she loves him! She is a strong willed, determined fighter, a real force to reckon with (especially when her 2 year old tantrums strike!!!)

We couldn't be prouder of our gorgeous girly and truly wouldn't have her any other way, her 22q just makes her Lucia to us! We just want her to grow up not having to explain herself or 22q to anyone and the only way we can do that is by raising awareness!

Thanks to Max Appeal we feel fully equipped to help her as she grows, now we have a better understanding! If there are any areas we are unsure of, we know where we can ask about it! They really have been the biggest support to us and our family!

Thank you so much for reading this, if you can spare even just £1 would be amazing but/also reading up on www.maxappeal.org.uk and sharing the link/info is even better!

SO many thanks in advance

Philippa (Lucia's Mummy!)

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