Lexi’s “KIF1A” Journey Hello everyone, I'm the mother to a very special, very beautiful little girl called Lexi, she is 7 years old and a huge Beyonce and Adele fan, she loves to dance, clap and of course sing! 😊 please take the time to read my story and Lexi's journey so far. Following a smooth pregnancy and delivery all seemed well, and for the first few months no problems were detected however around 4 months of age I noticed a delay in Lexi's development. Following countless Dr visits and referrals to the health visitors and child development centre we were finally referred to Great Ormond St hospital. Lexi has been under the care of Great Ormond Street Hospital (GOSH) since she was 8 months old, having had extensive and invasive test throughout her early years including skin and muscle biopsy, lumbar puncture, EMG, EEG, MRI, countless blood test and still no under lying diagnosis had been found for Lexi. In 2014 I was asked by the genetics department at GOSH if we would take part in a study called “Deciphering Developmental Disorders” (DDD) A study using new genetic technologies to understand developmental disorders from undiagnosed patients. After taking DNA from Lexi, myself and Lexi’s dad Rav Tattal we were asked to wait, as it would take up to 3 years to collect DNA from 12,000 undiagnosed children and adults in the UK and then analyse and re-analyse all the genomic data (Whole Genome Sequencing) from all families in the hope of finding a diagnosis for as many children as possible. We were told there was still only a 50% chance of a diagnosis being found for Lexi. However just 13 days ago we opened a letter and received the news we waited over 7 years to read... A diagnosis had been found for our Lexi! The letter explained that the study had found a change (mutation) in a gene called KIf1A which causes problems consistent with those that Lexi has, and that neither myself or Rav carries the same gene change (non-inherited genetic disorder or de novo) The lab had confirmed the results. Initially I was overjoyed, tears of happiness streamed down my face that I could finally research what Lexi has, for the first time in 7 years I felt I could really help my child through connecting with others like her and finding potential treatments to relieve her of her daily battles. I celebrated and told a few close friends who arranged a surprise party for her the very next day. Lexi’s diagnosis party with balloons and banners and simply making her feel like the princess she is! I called the genetics clinic at GOSH and an appointment was made to see the geneticist to go over the results and inform me about what KIF1A is, unfortunately the nearest available appointment they had is not until September which I booked anyway, but started my search on KIF1a straight away! I had never heard of KIF1a before but felt excited to type it in on my phone. I was surprised at first to not see a lot of information load up instantly but soon came across the KIF1A.org and quickly sent a message to Luke Rosen and his wife Sally, amazing parents to a beautiful girl called Suzanna also diagnosed with Kif1a 8 months ago. Luke kindly gave me the contact details for Dr Wendy Chung and Lia Boyle based at Columbia university in New York- the leading physicians when it comes to Kif1a . I quickly found out from the site, reading the information posted and watching Dr Chung’s interview that Kif1a-related disorder is an extremely rare genetic disease and that there is only approximately 30 individuals worldwide diagnosed with Kif1a of which 19 children are diagnoses with de novo Kif1a mutation (a spontaneous genetic anomaly) Lexi is now added to that small number of children. While reading my curiosity quickly turned to shock and panic as I learned that Kif1a is a neurodegenerative condition, a progressive life-shortening disease. Children affected with this condition have lost their lives before reaching their 5th birthday and some even before reaching their 1st. Once again my world stopped at that moment, I looked down at my beautiful girl sleeping peacefully in my arms and my heart crumbled, surely this must be a mistake. Although Lexi faces many daily challenges... Lexi cannot stand or walk unaided due to spastic paraplegia, her leg muscles are very weak but she is so determined and able to get around in her walker. She has a severe vision impairment (C.V.I), but has learned to adjust to the environment she is in by using her other senses, her acute hearing, communicating with others around her and using her hands to navigate around her surroundings. She is also learning braille. I really am so proud of her. Lexi also has global developmental delay putting her mental age at a much younger age than she is but she is progressing slowly and steadily, she continues to learn new things everyday. Lexi is a fighter and never lets her limitations hold her back. Admittedly she gets very frustrated at times, she wants to be involved with everything, she wants to play and keep up with other children, but this frustration pushes her on to fight harder. She tires easily ( a great excuse to rest and have a cuddle with mummy :)) but she always keeps going. Lexi also has epilepsy but has been 2 years seizure free and off her daily medication. Go Lexi! So after 7 years of not knowing what Lexi has, what caused this and almost giving up that a diagnosis for Lexi would ever be found... to then be given a diagnosis but also what almost feels like a death sentence. I realise now why the geneticist wanted to see me in person to explain the results, and with that appointment almost 3 months away, a part of me almost wished I still had those 3 months of living blissfully unaware of Kif1a. How can I accept this disease to eventually rob my precious girl of all the achievements she has worked so hard to gain? How can I allow this disease to steal her dreams, her sparkle, and eventually her life? I can’t. I won’t. Still refusing to believe this diagnosis I frantically emailed Lia Boyle at Columbia university to question this outcome. She was such a kind person and was interested in Lexi and including her into their research but unfortunately still confirmed my worse fear that this disease will very likely shorten Lexi life. I cried so much until I felt I couldn't catch a breath and found comfort from talking to a small group of families of children also affected with Kif1a including the only 2 others families reported in the UK with children diagnosed with Kif1a. They listened and have been a great support to me this past week. As you may imagine my emotions are still so raw. I'm feeling lost and completely devastated, but through my grief my strength will prevail and that is thanks to my little warrior Lexi, and not forgetting my big boy Leo who is simply the most amazing big brother to Lexi, her guide and protector, I wish he got the recognition he deserves for all he does. I truly do, but above all there is HOPE for Lexi and the other beautiful children living with Kif1a and this is why I am writing this post. Kif1a is a relatively new condition, a gene only known about since 2011 when the first individual was diagnosed and because of that it is still in the very early stages of research but funding is urgently needed to accelerate research leading to clinical trails to find a cure for Kif1a. Therefore it has now become my focus to help raise awareness of this condition and funds not only to give Lexi’s and the others like her sharing this condition a fighting chance of a future but also for all the other children still living without a diagnosis. I requested from the genetics department at Great Ormond Street that Lexi’s test results be sent to me and have since been sent to Dr Wendy Chung at Columbia university so Lexi among the other children can have the opportunity to receive the treatments needed when they become available, but that can only be achieved through funding for research. Time is running out for our children affected with this disease. We need to #stoptheclock so Lexi and the other amazing children affected can keep the progress they've made so far, live their dreams and have fullfilling and meaningful lives in the future. Now I'm not a medical expert, a writer or a computer whizz, infact I'm pretty rubbish when it comes to knowing where to start in terms of raising awareness of Kif1a, fund raising etc. I'm just a scared and desperate mum, being as open as I can reaching out to you for help and support, whether it be sharing ideas and suggestions on fundraising, making a donation to Kif1a big or small would be greatly appreciated or by simply just sharing this post. Message me anytime, and to my local friends and family please don't be a stranger, my door is always open and my kettle is always on ;) so pop in some time even just to visit Lexi and say hello, she loves company and always ready to give you a cuddle. I would like to say a personal thank you to Luke Rosen for being the driving force behind http://www.kif1a.org/ who is so dedicated to accelerating research to provide a better outcome for our children and has worked tirelessly giving hope and support to myself and other families seeking answers, and reassurance that we are not alone in this. Thank you so much for taking the time to reading my post. Lexi is the Kif1a super hero of the week so please pop to the site to check her out and the amazing other super hero kids :) http://www.kif1a.org/lexi.html Lots of Love Lynette