rainmakestheflowersgrow

Violets Journey

Home
The bumpy road
Mother of a miracle
- Siblings
- My hero

Category: Gastro

Hardest by far

February 16, 2018February 16, 20184 Comments

When you've reach a breaking point it seems that all hope is lost, you've failed. The worst part, it's not you that you've failed, it's your precious daughter. Since being born it has been a monumental daily effort to hydrate our sweet girl. No suckle reflex meant months of licking the teat and feeds lasting … Continue reading Hardest by far

Instagram

Today is Rare Disease Day 2020. Violet has two rare diseases/syndromes. A chromosome imbalance on her Chromosome 15 - 15q 13.3 micro duplication. This affects the CHRNA7 gene 🧬 15q 13.3 micro duplication causes - • Epilepsy • Feeding difficulties • Speech and Language difficulties • Insomnia • Hypotonia (low muscle tone) • Autism • ADHD Violet ticks all the boxes but one, ADHD. Violets also has a very rare form of Epilepsy called ESES / CSWS. ESES - Electrical Status Epilepticus in short wave Sleep. CSWS - Continuous Spike and Wave in Sleep. In essence, Violet is in a near constant state of sub clinical seizures during sleep. This can cause regressions in development, some of which can be permanent when treatment is ineffective. It’s very hard to diagnose. Only being discovered via an overnight (sleep) EEG. We were fortunate that’s Violets was picked up last year. However, we are still looking for a successful treatment. Violet has experienced regressions, she lost all of her spoken words. Violets behaviours were causing me to question Autism Spectrum Disorder with her paediatrician. These are the two main symptoms of ESES. Regressions in speech and other areas as well as presentation of ASD behaviour. We are so fortunate that although Violets ESES has not improved with different treatments, her speech has returned. Not only that but is improving all the time, new spoken words - lots of new words. We are still in the midst of a lot of seizures and Violet definitely has ASD behaviours, whether it’s from the ESES or in general. I suspect we will never know. It’s hard as with ESES, skills can regress overnight, no warning. So I’m constantly thankful for Violets amazing progress. Violet is absolutely incredible. Imagine having all this against you, plus many more diagnoses. Everyday Violet works so much harder than you or I, to do the very basic of tasks. Violet is a true fighter and overcomes so much. She may have rare diseases but first and foremost she is a brave and amazing little girl! #rarediseaseday #esesepilepsy #cswsepilepsy #15q133microduplication #15q133microduplicationwontstopher #chromocutie

Starting a new medication is always difficult and V is experiencing a tough time with Gabapentin. It’s early days and we hope the mood changes and nasty side effects will subside sooner rather than later. Fingers crossed it works and V gets relief from her dystonia. #esessyndrome #intractableepilepsy #drugresistantepilepsy #chromocutie #15q133microduplicationwontstopher #hie #cvi #tubie #cpwarriorprincess #cerebralpalsy #quadriplegic #tubefeeding #scoliosis

Happy Valentines Day ❤️

So far 2020 has been a mixed bag. We’ve had lots of fun in January but we’ve also had some tough moments. I’ve had 2 blue light ambulance rides to hospital due to nasty seizures. I’ve got a diagnosis of CVI (cortical vision impairment) and been registered as severely visually impaired (blind). I have also been told that they recommend I have squint surgery as I have a convergent squint (it’s in both eyes but likes to swap) and it’s affecting my peripheral vision. Mummy and Daddy are sad that my vision is likely blurred or that I’m seeing double. It’s not all doom and gloom however! I’ve said lots of new words! The best being “Mum” and I say it all the time now. I love shouting for my mummy ❤️ I have also started to give my mummy lots of kisses, I like to surprise mummy with them, especially in the morning. Here’s a pic of me riding a unicorn 💕

Happy New Year 💜

It’s been a while since I updated on here. Apologies. Highlights from the last 3 months: • Violet has loved starting school. She has dropped to 4 days a week after the first half of the term as she was tiring easily. This has worked well so far and Violet is engaging and learning so much. • Violet has been diagnosed with cortical vision impairment (CVI) and will be registered partially vision impaired in the new year. • Violets Epilepsy continues to be drug resistant, the ESES syndrome has not improved and we are looking to start the Ketogenic diet in the new year as the next course of treatment. • It has become apparent that Violet almost certainly had infantile spasms in her first year of life that were not diagnosed or treated. • Violet continues to astound us all with her resilience, motivation and determination. She does regular yoga sessions and now knows the poses and holds them well, despite having to fight against her own body. • Grandad completed his million step walk and raised over £23k for Violet and 2 charities! We’ll be back to posting on Violets account regularly. Thank you for bearing with us ❤️

FB

FB

	Erin on Somewhere in between
	Jayne Grace on A plea for help
	huntersmum on A plea for help
	RainbowsR2Beautiful… on When you think you’ve been sca…
	Stephs Two Girls on Those moments