Emma St John

Ophelia's 1st Birthday Fundraiser

Fundraising for UNIQUE (Rare Chromosome Disorder Support Group)
raised of £1,000 target
We Provide support and information to improve the care of those affected


Our daughter was born with a very rare chromosome condition whereby small parts of chromosome 10 were deleted and duplicated. The technical name is ’supernumerary deleted chromosome 10, resulting in partial trisomy’. Down syndrome is trisomy 21. This just means there is an extra copy of chromosome 21. Ophelia has a partial extra copy of chromosome 10. 

It's apparently extremely rare and left the geneticists scratching their heads, as they hadn’t seen it before. As far as we know, the ‘coordinates’ of deletion and duplication are unique only to her and doesn't even have a name. They said that 21 people since 1975 had been diagnosed with chromosome 10 duplication (in recorded medical science), and they handed us a document compiled by the charity Unique for the diagnosis with some more information on what kind of thing the prognosis would entail.

What this diagnosis means physiologically and medically is that she was born with a number of complications such as talipes (club feet), a missing kidney, kidney dysplasia, hypotonia, cleft palate, differences in her brain architecture, among other things. On top of this, she had a collapsed lung and heart issues her birth day. We were sent to St Thomas’s in London for the birth and they saved her life on day zero. We spent 4 weeks in NICU there - at Tommy's - then 2 weeks in Pembury HDU, coming back to T Wells in an ambulance, before being allowed home. 

The charity Unique have helped us understand what the situation is that we were looking at. It came out the blue for us as a family. On the scans they saw the talipes, but that is common in babies. Then at scan week 38 and 39+6 they noticed other anomalies with her bladder tract, heart and the kidney. Thankfully the sonographer was so thorough and as she spotted these issues - linking them together -  then requested the immediate transfer to Tommy's. This sequence effectively saved Ophelia's life. 

Guy's Genetics did inheritance studies on both Emma and I, concluding it was a 'de novo’ event, meaning it was a random occurrence that her chromosome was rearranged. The chance of it happening again would be <0.1%. This makes her truly special!

Unique charity have helped us understand what the extremely complicated genetics report means. They've taken the time to reply to lengthy emails with comprehensive explanations. They’ve helped us with travel insurance guidance, and further they’ve put us in touch with other families. Unique aim to connect families, as that can be really helpful knowing there are others out there going through something similar. There will be many useful guides in there for later in life such as schooling, teething, adolescence etc. 

The charity offer very through information for families facing all-sorts of problems. The resources on the website are clear and broad ranging. It’s UK based and has been around a little while, but seems to be growing exponentially, supporting families all over the world now. This is partly due to the improvement in technology able to detect the chromosome rearrangements becoming more accessible. They are also translating documents into foreign languages as a matter of course. So the impact this charity has is far and wide, and very unique in its nature (pun intended!).

Crossfit Tonbridge and Crossfit TAG (in Sevenoaks Weald) is co-owned by Joel, my husband. I also do some part time coaching there, being the regular CrossFit Kids coach before we had Ophelia. The gyms are very much community based and we love to help the wider community. We recently raised money for Cancer Research over November & December last year. Earlier in the year we raised money for a community accessible DeFibrillator, plus heated/illuminated lock box at both gym sites. The local businesses and sports club at both venues have full access to these DeFibs we purchased, installed and maintain. 

It’s Ophelia’s 1st birthday on 8-5-22. On the 14-5-22, we plan to have a series of small CrossFit based challenges. Then a bigger workout where the 4 co-owners will take on teams of 4 coaches, and teams of 4 members that assemble and sign up. The day is designed to be very inclusive, so our members from age 5 up to 65 can all take part, with ‘scaling’ options fully available.

Co-owner Gary Harding will be taking on coach Samson Fenton in a head-to-head throwdown in another finale spectacle! 

There'll be a BBQ sizzling away, a local DJ pumping some tunes, plus a raffle with friends of ours already donating prizes such as afternoon tea for 2 at Solomons, a gift voucher for e-commerce brand Little London Bloomers, a months supply of micro-green veg, 30 minute massage, among other amazing prizes! Thank you to all of you who've offered your help with all this. 

Anyone is welcome to come along to the fundraiser! Not just CFT & CFTAG members. They can see what we’re about, enjoy a burger, and give the small challenges a go themselves! (Things like maximum plank hold etc, wall sit challenge…). 

The afternoon is child and dog friendly! The more the merrier. It's all good fun and all money raised will be going to help support this amazing cause!

Thanks for reading our story. We look forward to seeing you on Saturday 14th May 14:00 - 17:30.

Location: CrossFit TAG, Unit 19 Gaza Trading Estate, Scabharbour Road, Sevenoaks Weald, TN11 8PH.

More information can be found below:

UNIQUE: www.rarechromo.org

CROSSFIT TAG: www.CrossFitTAG.co.uk

CROSSFIT TONBRIDGE: www.CrossFitTonbridge.co.uk 

Instagram Emma has for Ophelia: TeamSinj

Instagram Unique: Unique_Charity

Instagram Crossfit: CrossFitTonbridge_CrossFitTAG

About the charity

Unique provides much needed help and information to those caring for a family member with a rare chromosome or single gene disorder. These are lifelong conditions affecting at least 1 in 200 babies, causing disability and medical issues. For more information see www.rarechromo.org

Donation summary

Total raised
+ £708.09 Gift Aid
Online donations
Offline donations

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