Dear friends and family,

At the end of last year my cousin Harvey and his wife Nav announced some devastating news. Their gorgeous daughter Thea (2 at the time) had just been diagnosed with Rett Syndrome.

Here are the words we read as Harvey announced the news

‘It’s with such a heavy heart, sadness, fear, love and hope that we share this news with you. Our beautiful Thea has recently been diagnosed with RETT syndrome.

We can't begin to explain the rollercoaster of emotions we have experienced over this last year, worrying for Thea and trying to figure out what could be causing her delays and various symptoms. We're devastated to learn that our sweet girl has such a tough road ahead of her.

Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops. It's caused by a mutation in one of the genes on the X chromosome and in Thea’s case, is a random occurrence, not passed on from us.

The disorder causes a progressive loss of motor skills and language. Most babies with Rett syndrome seem to develop as expected for the first six to 12 months of life, then begin losing skills they previously had — such as the ability to crawl, walk, communicate or use their hands.

After this regressive phase has passed, which can take any where up to 2 years or more, some children may regain skills to some degree with therapy. However, most children and adults with Rett Syndrome are unable to speak, walk, or use their hands. Teeth grinding, sleep, breathing and feeding difficulties, heart irregularities, seizures, anxiety, gastrointestinal, and orthopaedic issues are common, causing severe disability.

Research shows that people with Rett Syndrome do not have brain damage. They know and understand much more than their bodies allow them to show – but they are locked in, trapped by a body that cannot obey signals from their brain.

Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication, treating seizures, and providing care and support for children and adults affected.

With that optimism, our goal is to keep Thea as happy and healthy as possible, so new cutting edge treatments can come through which we hope will make a significant difference. It may be years, but we are prepared to do what it takes. We are doing everything in our power to help Thea live her best life, taking each day as it comes and striving to enjoy all the amazing things about her. This syndrome won't define her and it sure won't stop her from knowing she is incredibly loved. ❤️

Below are some links to understanding more, if you want to read further.

https://www.rettuk.org/what-is-rett-syndrome/

https://www.reverserett.org.uk/infomation-about-rett/about-rett-syndrome/

Much love,

N & H xx’

Thank you for reading this far…

As a family we want to do whatever we can to support Thea through this tough journey that life has thrown at her. We want to support Nav and Harvey and their 2 boys in whatever way we can.

So the Birk family and Maal family are setting ourselves some challenges.

So far we have the following on the agenda (some already completed)

We did Beat the Boat race. The girls ran the kids race whilst I battled my boat (and beat it)

We conquered Snowdon!!!! Now this one was a last minute edition for August! Saaran saw some photos on my insta from 7 years ago and said ‘I wanna do this’, so of course I said ‘Let’s go’! It took us 5hrs 50 mins. We complained, had fun, complained more but boy am I proud of my trio and Sachin and Hari for completing this. It’s hard enough for adults to do this hike let alone the kids.

I have many races booked this year but the challenging ones are always the marathons. It really doesn’t matter how experienced you are in running them they never get easier (in fact sometimes with age they get harder!).

Update - 1st October 2024

Berlin marathon is done! What an amazing race and I knocked off 20 minutes off my personal best time (now standing at 4:36)!

Now time to rest for a week before training resumes for Dublin marathon on 27th October 2024 which Pindi and I will be completing

The fundraising for these events will be split equally between ongoing therapies for Thea and research for Rett Syndrome.

I’m busy planning the diaries for our 2025 challenges. We won’t stop until our Thea has had all the treatments she can get to help her lead a better quality of life

Thank you for taking the time out to read this