Ottie’s Journey

Hi my name is Rachel & I’m fundraising for my daughter Ottilie’s ongoing care needs.

Ottie has been in and out of hospital her entire life, she & I have spent her whole life fighting for her to live the best life she can.

Ottie was born via emergency Caesarean at 37 weeks after complications at the end of my pregnancy. This in its self was terrifying for us as first time parents.

Things only got tougher for us as a family from here, a NICU stay, a pandemic and a sick newborn..

At 7 weeks old we were transferred from Exeter to Bristol Royal Children’s Hospital for her first surgery. Someone so small had to be so strong. It broke me. I was miles from home alone & had my baby away from me for the first time for her to be on an operating table not knowing the extent of what was happening just knowing her feeding and breathing weren’t as they should be.

My brave little baby had to have part of her larynx lasered off as it was blocking her air way. Sadly though this didn’t cure her and at 22 weeks old she had a repeat surgery to shave away even more larynx! 

This operation was a lot more intense on her and she had a really long recovery needing a lot on support with both feeding and breathing including being solely NG TUBE fed for almost 2 months while she healed.

It was after this operation where her Consultant became Adamant that she had an underlying condition.

After months and months of tests and referrals we finally got a full genetic screening. Then at 13 months old we finally got a conclusive diagnosis.

Ottilie has a genetic mutation in chromosome 20, gene ARID1B. This mutation has caused a condition called Coffin-Siris Syndrome. It is extremely rare with less than around 1000 known cases globally.

CSS causes Ottie to have severely low muscle tone, among other symptoms. Sadly this was causing her breathing problems to be more severe. As a further result of the low muscle tone, It has thus far made her physically disabled as she can’t walk or crawl. 

I do therapy with her everyday in the hope that one day she might take her first steps. This is part of what we need funding for, to be able to do more therapies as the amount Available through the NHS is very limited and a very overstretched budget. 

Other symptoms of known CSS cases mean she has a lot of future risks to: 

• It is almost certain she will be severely autistic and have additional learning needs to what extent we won’t know until we get there.

• She’s at a higher risk of cancers, both in childhood & adult life. 

 •She is at risk of complications with her heart, kidneys, her sight and hearing ( touch wood all are currently okay)

She is also non verbal. We have no way of knowing if she can or will be able to speak. This is another area we would like to able to seek help for privately as we have been on the speech and language waiting list for over a year now. We won’t know if the surgeries  effected her voice box in a catastrophic way either because she’s yet to talk or even really babble. 

Every single day of Ottilie’s short life so far has been an up hill battle. 

Due to it’s rarity, so little is known about CSS, that is why we have reached out to the top specialist in the world. 

We are hoping Dr S Vergano will be able to assess Ottie & give us some more information. Also her knowledge & expertise may be able to tell us what Ottie’s future might hold. 

We may be able to do even more to support her. Sadly this specialist is based in the USA and is $300 per appointment even over Zoom!

Ottilie is also at risk of loosing the funding for her compression vest, this plays a huge role in her mobility and allows her to be able to shuffle around independently. If we lose the NHS funding for this vest we will have to buy them each time she grows and each one costs Hundreds of pounds. 

This vest is fundamental for her, it helps her posture and mobility so much & it gives her the ability to be independent. Bum shuffling & holding herself up for longer. It also helps with her muscle tone to allow her to pass bowel movements independently. 

I shouldn’t have to put a price on my daughters independence.

Another thing we are fundraising for is ABR therapy, it costs over £5.5k a year, and would be needed for 3-5 years depending upon how soon we can get her there. 

This cutting-edge therapy isn’t NHS funded and could be one of the only ways to help Ottie walk independently. 

This is why we need your help…. Please give what you can & thank you.