Weʼre raising £10,000 to help fund taking Elsie to America for help, advice and possible trial treatment for Smith Lemli Opitz Syndrome.
- Llangollen, UK
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My name is Kayleigh Kempster and I am from Llangollen, North Wales and living in Gobowen, Shropshire with my partner Nick Purcell and our beautiful daughter Elsie Grace. Elsie was born with an extremely rare genetic disorder call Smith Lemli Opitz Syndrome, to which there is currently no cure and little research and treatment here in the UK. We are trying to raise money to take our daughter Elsie to America for help, advice and possible trial treatment. Any money raised in excess of the trip costs will remain in her fund to support her with specialist equipment that she needs or may need in the future. For example, specialist functional seats, sensory equipment, standing frame etc.
Our wonderful daughter Elsie was born in October 2017 at Wrexham Maelor Hospital weighing 5lb, 4oz. Whilst we knew during pregnancy that Elsie was measuring small, we were reassured by professionals that she was a ‘structurally small but normal baby’. So, it came as a shock to us when she was whisked away shortly after her birth to the Special Care Baby Unit. Elsie was born with unusual features, including fused second and third toes, a cleft palate and had no sucking reflex which meant she had to be NG (nose) fed. Elsie spent a total of 17 days in Special Care before we were finally able to bring her home, a day that will forever stay with me! Elsie never did improve with her feeding and is still tube fed, she is due to have a Gastrostomy tube (G-tube) fitted soon which we hope will alleviate her frequent vomiting.
As she grew older, we began to notice that Elsie wasn’t meeting her milestones, i.e. not smiling, fixing and following, no head control. We put this down to her spending time in Special Care and not being ‘stimulated’ enough. However, when Elsie was just 2 months old, just 2 weeks after Christmas our whole world was turned upside down when we received the news that Elsie was born with an extremely rare genetic disorder called Smith Lemli Opitz Syndrome (SLOS) and is on the ‘severe’ end of the syndrome, to which there is currently no cure. Sadly, children with the most extremely severe cases are either miscarried or often die just a few months after birth.
We’ve been told not to expect much from our daughter and that she is unlikely to ever walk, talk or eat anything orally. We’ve been told that she will never live independently owing to significant physical and mental delay. SLOS means that Elsie is unable to produce enough Cholesterol for normal physical and mental development. She now has dietary cholesterol supplements; however, Doctors admit that this is unlikely to impact upon development and symptoms. As the Syndrome is a developmental disorder that effects many parts of the body, children can have problems with their major organs, including their heart and liver. Elsie has a fast heart rate but thankfully no current structural abnormalities. Elsie does have photosensitivity, a cleft palate and a cataract in her right eye, Doctors are uncertain if she can see at all, but we remain thankful that in the main she appears healthy and is growing, albeit very slowly.
Our gorgeous Elsie needs constant consultations with Doctors and Consultants and will need various therapies to aid her development as she develops. However, SLOS is so rare that Doctors in the UK admit little is known about the Syndrome and prognosis. SLOS affects an estimated 1 in 20,000 to 60,000 newborns. It is believed that there are currently only 800 children in the world with this Syndrome. Currently, funding for research and treatments for SLOS is almost non-existent. We have been sat in hospital appointments where Doctors have ‘Googled’ her Syndrome, which is very scary because as a parent you want medical professionals to know how best to treat your child. Often, we are the ones advising Doctors on what the Syndrome is and means for Elsie and the potential risks and challenges she faces.
We are hoping to raise money to take Elsie to America, where studies and research are being undertaken into SLOS. Research studies are crucial in keeping hope alive that one day, there will be a cure or treatment that will improve the prognosis for children like Elsie. The NIH in America have already agreed to see Elsie and run tests that are not performed here in the UK. As well as hopefully being involved in further tests and understanding our precious daughter’s needs better, we are hoping that the trip will also enable us to attend a biannual conference which will provide an opportunity for us to meet other families of children with SLOS, talk to specialists and discuss trials and future treatment. Any money raised in excess of the funds needed to take Elsie to America will remain in her fund, which we hope will assist in funding specialist equipment to aid her development, i.e. standing frame, functional chair etc.
Elsie is a delightful and placid baby, she loves cuddles and music, especially lullabies and Ben Howard (she loved listening to him in the womb and appeared to be the only music that would reduce her heart rate). Elsie is now smiling, babbling and rolling over from her side onto her back. She is trying her best to support her own head, but still needs support. Elsie enjoys baths and loves to wear as little as possible! Elsie is a determined little girl, she knows what she wants and likes and already seems to know how to get it…… Okay so she might have trained me a little, but she is worth everything.
As a family we have been on an emotional rollercoaster, but we’re determined to fight and get the best possible care for our little girl, we have spent endless nights researching SLOS and what we could be doing to support Elsie to reach her own potential. Elsie doesn’t fit into the standard graphs and charts but is making her own path and journey in life. We call this Elsie’s Climb, to quote the lyrics from the song “There’s always going to be another mountain, I’m always going to want to make it move, always going to be an uphill battle, sometimes I’m going to have to lose, it isn’t about how fast I get there, it isn’t about what’s waiting on the other side, It’s the climb”.
Please join us on Elsie’s journey by supporting in any way that you feel you can, even if it’s just sharing and spreading awareness. We hope part of Elsie’s journey will be this much desired trip to America.
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Kayleigh Kempster started crowdfunding
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Aug 21, 2018
Aug 9, 2018
Let us know if we can do anything to help xxx
Aug 9, 2018
Jul 23, 2018
Good luck for your trip to America, Elsie! xxx
Jul 20, 2018
Jul 4, 2018
Stay strong xx
Jun 27, 2018
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