mothering_kimberley
A SEN family on their journey with a daughter who has a rare genetic syndrome SYNGAP1 ID,Autism & OCD
๐๐๐ ๐งฌ
SYNGAP1
Iโve noticed that some people donโt know how to communicate or interact with kimberley & itโs sad to say itโs closest ones to kimberley too which is heartbreaking as Kimberleys mom๐
Kimberley loves nursery rhymes being sang to her she joins in , she loves ambulances ,police emergency services,peppa pig & loves being pushed on her hammock swing & loves water hot tub and swimming is her favourite.
I just wish some people would get to know kimberley for who she is.
If kimberley is ignored and not shown any interaction please donโt expect kimberley to acknowledge or interact with you.
Kimberley is 10 years old ,she has complex needs & is moderate to severely impaired due to her SYNGAP1 intellectual disability and complex needs but when sheโs shown interaction in any of the ways ok list above she will more than likely let you in her world and interact back.
I think it is either ignorance because kimberley isnโt into what most 10 year olds are into or that someone just doesnโt know how to interact with kimberley because of her complex needs which is sad but if you donโt know how just ask me.
She isnโt there to put on a show for you or to say this โฆdo this. She just simply wonโt acknowledge you if you donโt show her youโre willing to show patience and interact on her level.
Itโs that simple ..INCLUSION โค๏ธ
This full video which is on YouTube
https://youtu.be/4INwx_tmTKw
Shows a little girl showing the boy who is on wheelchair love and acceptance and INCLUSION!!!!
โค๏ธ
Itโs a sad ending but that little boy is shown love & INCLUSION which is all children with disabilities want at the end of the day
A LITTLE EXPLANATION OF KIMBERLEYS SYNGAP1 BRAIN ๐ง ๐งฌ
Mutations in the SYNGAP1 gene occur randomly in s***m or eggs, leaving developing brains with half the amount of the brain with half amount of a crucial protein it needs for normal development. This protein, called not surprisingly the SYNGAP1 protein, stops neurons from sprouting too many connections. Without enough of this protein, young brains grow wild and unruly.
Their brain circuits become extra sensitive to stimulus, impeding learning by failing to extract much useful information about the world.
These overly connected brains are prone to epilepsy and a host of other symptoms.
๐
๐๐๐๐๐ธ๐ ๐ธ๐๐ป๐ & โ๐๐๐๐โ๐โ๐ธ๐๐๐โ
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ช๐ด ๐ง๐ช๐ฏ๐ฅ๐ช๐ฏ๐จ ๐ฉ๐ฆ๐ณ ๐ท๐ช๐ด๐ถ๐ข๐ญ ๐ต๐ช๐ฎ๐ฆ๐ต๐ข๐ฃ๐ญ๐ฆs & ๐๐ฐ๐ธ,๐๐ฆ๐น๐ต & ๐๐ฉ๐ฆ๐ฏ ๐ต๐ช๐ฎ๐ฆ๐ต๐ข๐ฃ๐ญ๐ฆ ๐ฆ๐ข๐ด๐บ ๐ต๐ฐ ๐ค๐ฐ๐ฎ๐ฎ๐ถ๐ฏ๐ช๐ค๐ข๐ต๐ฆ ๐ธ๐ช๐ต๐ฉ ๐ข๐ด ๐ด๐ฉ๐ฆ ๐ค๐ข๐ฏ ๐ด๐ต๐ณ๐ถ๐จ๐จ๐ญ๐ฆ ๐ข๐ต ๐ต๐ช๐ฎ๐ฆ๐ด, ๐ด๐ฐ ๐ ๐ฐ๐ณ๐ฅ๐ฆ๐ณ๐ฆ๐ฅ ๐ต๐ฉ๐ฆ๐ด๐ฆ ๐ง๐ณ๐ฐ๐ฎ ๐ต๐ฉ๐ฆ๐บ ๐ข๐ณ๐ฆ ๐ท๐ช๐ด๐ถ๐ข๐ญ ๐ณ๐ฆ๐ด๐ฐ๐ถ๐ณ๐ค๐ฆ๐ด ๐ต๐ฐ ๐ฆ๐ฏ๐ฉ๐ข๐ฏ๐ค๐ฆ ๐ค๐ฐ๐ฎ๐ฎ๐ถ๐ฏ๐ช๐ค๐ข๐ต๐ช๐ฐ๐ฏ ๐ข๐ฏ๐ฅ ๐ญ๐ฆ๐ข๐ณ๐ฏ๐ช๐ฏ๐จ.
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ธ๐ช๐ญ๐ญ ๐ด๐ฐ๐ฐ๐ฏ ๐ฃ๐ฆ ๐ถ๐ด๐ช๐ฏ๐จ ๐ข ๐๐๐ ๐๐ฆ๐ท๐ช๐ค๐ฆ ๐ฃ๐ถ๐ต ๐ง๐ฐ๐ณ ๐ต๐ฉ๐ฆ ๐ฑ๐ข๐ด๐ต ๐ค๐ฐ๐ถ๐ฑ๐ญ๐ฆ ๐ฐ๐ง ๐บ๐ฆ๐ข๐ณ๐ด ๐ด๐ฉ๐ฆโ๐ด ๐ฃ๐ฆ๐ฆ๐ฏ ๐ถ๐ด๐ช๐ฏ๐จ ๐๐๐๐ ๐ค๐ฐ๐ฎ๐ฎ๐ถ๐ฏ๐ช๐ค๐ข๐ต๐ช๐ฐ๐ฏ ๐ฃ๐ฐ๐ฐ๐ฌ ๐ข๐ต ๐ด๐ค๐ฉ๐ฐ๐ฐ๐ญ & ๐ต๐ฉ๐ฆ๐ด๐ฆ ๐ข๐ต ๐ฉ๐ฐ๐ฎ๐ฆ & ๐ฐ๐ถ๐ต & ๐ข๐ฃ๐ฐ๐ถ๐ต ๐ต๐ฐ ๐ฅ๐ฆ๐ค๐ณ๐ฆ๐ข๐ด๐ฆ ๐ฎ๐ฆ๐ญ๐ต๐ฅ๐ฐ๐ธ๐ฏ & ๐ง๐ณ๐ถ๐ด๐ต๐ณ๐ข๐ต๐ช๐ฐ๐ฏ ๐ต๐ฉ๐ข๐ต ๐ฌ๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ฉ๐ข๐ด ๐ฃ๐ฆ๐ค๐ข๐ถ๐ด๐ฆ ๐ด๐ฉ๐ฆ ๐ค๐ข๐ฏโ๐ต ๐ด๐ฆ๐ฆ ๐ธ๐ฉ๐ข๐ตโ๐ด ๐ฉ๐ข๐ฑ๐ฑ๐ฆ๐ฏ๐ช๐ฏ๐จ ๐ฏ๐ฆ๐น๐ต ๐ฃ๐ถ๐ต ๐ต๐ฉ๐ฆ๐ด๐ฆ ๐ข๐ณ๐ฆ ๐ฉ๐ฆ๐ญ๐ฑ๐ช๐ฏ๐จ ๐ฌ๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ธ๐ช๐ต๐ฉ ๐ต๐ณ๐ข๐ฏ๐ด๐ช๐ต๐ช๐ฐ๐ฏ.
๐๐ท๐ฆ๐ณ๐บ ๐ต๐ช๐ฎ๐ฆ ๐ด๐ฉ๐ฆโ๐ด ๐ค๐ฐ๐ฎ๐ฑ๐ญ๐ฆ๐ต๐ฆ๐ฅ ๐ด๐ฐ๐ฎ๐ฆ๐ต๐ฉ๐ช๐ฏ๐จ , ๐ด๐ฉ๐ฆ ๐ต๐ข๐ฌ๐ฆ๐ด ๐ช๐ต ๐ฐ๐ง๐ง ๐ต๐ฉ๐ฆ ๐ต๐ช๐ฎ๐ฆ๐ต๐ข๐ฃ๐ญ๐ฆ & ๐ฌ๐ฏ๐ฐ๐ธ๐ด ๐ธ๐ฉ๐ข๐ตโ๐ด ๐ฏ๐ฆ๐น๐ต.
๐
Our kimberley ๐
Meet 10yo Kimberley, a beautiful, sweet Peppa Pig and Roblox loving kiddo!
In 2020 Kimberley received a life-changing diagnosis through Genomics England project, finally explaining her learning disability.
Massive thanks to mum Gabrielle Tonks Brown for sharing her story with our partner Rare Disease UK and raising awareness of - related disorder.
https://www.raredisease.org.uk/rduk-news/our-syngap1-story/
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ด๐ฑ๐ฆ๐ญ๐ญ๐ช๐ฏ๐จ ๐ฐ๐ถ๐ต ๐ธ๐ฐ๐ณ๐ฅ๐ด โฆ..
๐๐ฐ ๐ฑ๐ณ๐ฐ๐ถ๐ฅ ๐ฐ๐ง ๐ฉ๐ฆ๐ณ ๐๐๐ผ
SYNGAP1 ๐งฌ๐๐๐
Please head over to my stories to watch the full videoโฆ
https://www.instagram.com/tv/CT4-RWOlprR/?utm_medium=copy_link
๐๐๐๐งฌ
So far 883 SYNGAP1 patients have been diagnosed around the world .
โข
โข
3Q21 = ๐ 883
๐บ๐ธ246
๐ฌ๐ง115
๐ซ๐ท73
๐ฉ๐ช71
๐จ๐ณ41
๐ณ๐ฑ37
๐ช๐ธ32
๐จ๐ฆ29
๐ฎ๐น25
๐ฆ๐บ23
๐ต๐ฑ21
๐ง๐ท16
๐ธ๐ช๐ฉ๐ฐ11
๐ท๐บ10
๐ง๐ช9
๐ฎ๐ช8
๐ณ๐ด๐จ๐ญ7
๐น๐ท6
๐จ๐ฑ๐จ๐ด5
๐ฐ๐ท๐ซ๐ฎ๐ฎ๐ฑ๐ช๐ช๐ต๐น๐ง๐พ๐ฆ๐ท4
๐ฆ๐น๐ฏ๐ต๐จ๐ฟ๐ธ๐ฎ๐บ๐ฆ3
๐ญ๐ฐ๐ท๐ด๐ท๐ธ๐ธ๐ท๐ฎ๐ณ๐ช๐ฌ๐ฒ๐ฆ๐ฒ๐ฝ๐ฒ๐พ๐ญ๐บ2
๐ง๐ฆ๐ธ๐ฐ๐น๐น๐ฉ๐ฟ๐ป๐ช๐ญ๐ท๐ฝ๐ฐ๐ธ๐ฌ๐ธ๐ฆ๐ฒ๐จ๐ถ๐ฆ๐ฉ๐ด1
If we missed you, let us know!
https://www.syngapresearchfund.org/post/syngapcensus-2021-update-75-in-q3-2021
https://www.facebook.com/cureSYNGAP1/posts/884143132468150
SYNGAP1
๐งฌ๐
แดกสแดโ๊ฑ สแดแดแดษชษดษข แด๊ฐแดแดส แดแดส แดสษชสแด
สแดษด แดกสแดษด แดกแดโสแด ษขแดษดแด?
โข
โข
โข
What do you worry about the most in life?โฆ.
Well let me tell you that this is my worst fear in life when weโve gone (myself & Mark) who looks after Kimberley?
Kimberley has already lost her Dadda as she called him at the age of 8 years old last year.
People often say to me donโt think like that , donโt worry but I have to else who will take care of my daughter with the needs she has?
โขWill they undo what Kimberley wants ?
โขWho will look after her like we do?
โขwho will have the patience?
โขwill she be okay?
โขWill she be safe?
โขWill she be happy?
โขwill she cry for us?
I know from Nick passing away that itโs so important to put things into place.
I wish I could take SYNGAP1 away us parents of syngapians really do, sheโs Kimberley & who would she be without SYNGAP1โฆ I have no idea but her life would be very different I know thatโฆ
I canโt go into what Kimberleyโs life would be like because itโs too heartbreaking.
Until youโre all in my shoes you have no idea what us parents got brought on a daily basis with children that have needs.
Iโm grateful for Kimberley but I do grieve the child she would of been.
You have plans when you have a child, you envision what your childโs life might look likeโฆ
no one prepared me for this life but I that Iโm doing my best.
๐ฑ๐๐๐ ๐๐ ๐๐๐๐๐๐ ๐
โข
โข
โข
This morning was a success ๐๐ป
Kimberley was excited this morning to go back to school.
Last night we prepared uniform together ,talked about her new class using her PECS visuals & packed her bag.
We mama her to get up ,get ready & have some breakfast without any meltdowns ๐๐ป
Obviously she went out the door saying โwโ for work โฆ๐
โ๐ ๐ฃ๐ค๐ ๐ฃ๐๐๐๐๐ ๐ด
โข
โข
โข
๐๐ฐ ๐ฑ๐ณ๐ฐ๐ถ๐ฅ ๐ฐ๐ง ๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ต๐ฐ๐ฅ๐ข๐บ ๐ด๐ฉ๐ฆ ๐ข๐ค๐ฉ๐ช๐ฆ๐ท๐ฆ๐ฅ ๐ฉ๐ฆ๐ณ ๐๐ณ๐ข๐ฅ๐ฆ 1 ๐ข๐ต ๐ฑ๐ฐ๐ฏ๐บ ๐ค๐ญ๐ถ๐ฃ ๐ต๐ฐ๐ฅ๐ข๐บ ,๐ด๐ฉ๐ฆ ๐ญ๐ช๐ด๐ต๐ฆ๐ฏ๐ฆ๐ฅ ๐ด๐ฐ ๐ธ๐ฆ๐ญ๐ญ ๐ต๐ฐ ๐ช๐ฏ๐ด๐ต๐ณ๐ถ๐ค๐ต๐ช๐ฐ๐ฏ๐ด ,๐ค๐ฉ๐ข๐ฏ๐จ๐ฆ ๐ฐ๐ง ๐ฑ๐ฐ๐ฏ๐บ ๐ต๐ฐ๐ฅ๐ข๐บ ๐ฃ๐ถ๐ต ๐ต๐ฉ๐ข๐ต ๐ธ๐ข๐ด ๐ฏ๐ฐ ๐ฑ๐ณ๐ฐ๐ฃ๐ญ๐ฆ๐ฎ ๐ด๐ฉ๐ฆ ๐ข๐ค๐ค๐ฆ๐ฑ๐ต๐ฆ๐ฅ ๐ต๐ฉ๐ฆ ๐ค๐ฉ๐ข๐ฏ๐จ๐ฆ ๐ธ๐ฆ๐ญ๐ญ.
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐จ๐ณ๐ฐ๐ฐ๐ฎ๐ฆ๐ฅ ๐ฉ๐ฆ๐ณ ๐ฑ๐ฐ๐ฏ๐บ ๐๐ฐ๐ด๐ช๐ฆ ๐ต๐ฐ๐ฅ๐ข๐บ ๐ถ๐ด๐ช๐ฏ๐จ ๐ข๐ญ๐ญ ๐ต๐ฉ๐ฆ ๐ค๐ฐ๐ณ๐ณ๐ฆ๐ค๐ต ๐ฃ๐ณ๐ถ๐ด๐ฉ๐ฆ๐ด.
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ญ๐ฆ๐ข๐ณ๐ฏ๐ต ๐ข๐ญ๐ญ ๐ข๐ฃ๐ฐ๐ถ๐ต ๐ฉ๐ฆ๐ณ ๐ด๐ข๐ฅ๐ฅ๐ญ๐ฆ & ๐ฃ๐ณ๐ช๐ฅ๐ญ๐ฆ (๐ต๐ข๐ค๐ฌ).
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ณ๐ฐ๐ฅ๐ฆ ๐ข๐ฎ๐ข๐ป๐ช๐ฏ๐จ ๐ต๐ฐ๐ฅ๐ข๐บ ๐ค๐ฐ๐ฏ๐ด๐ช๐ฅ๐ฆ๐ณ๐ช๐ฏ๐จ ๐ด๐ฉ๐ฆ ๐ณ๐ฐ๐ฅ๐ฆ ๐ข ๐ฏ๐ฆ๐ธ ๐ฑ๐ฐ๐ฏ๐บ ๐ต๐ฉ๐ข๐ต ๐ด๐ฉ๐ฆโ๐ด ๐ฏ๐ฐ๐ต ๐ฎ๐ฆ๐ต ๐ฃ๐ฆ๐ง๐ฐ๐ณ๐ฆ.
๐๐ฐ๐ฐ๐ฌ๐ช๐ฏ๐จ ๐ง๐ฐ๐ณ๐ธ๐ข๐ณ๐ฅ ๐ต๐ฐ ๐ด๐ฆ๐ฆ๐ช๐ฏ๐จ ๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ข๐ค๐ฉ๐ช๐ฆ๐ท๐ฆ ๐ฎ๐ฐ๐ณ๐ฆ ๐จ๐ณ๐ข๐ฅ๐ฆ๐ด & ๐ต๐ฐ ๐ด๐ฆ๐ฆ ๐ฉ๐ฆ๐ณ ๐ธ๐ฉ๐ฆ๐ฏ ๐ด๐ฉ๐ฆโ๐ด ๐ฎ๐ฐ๐ด๐ต ๐ฉ๐ข๐ฑ๐ฑ๐บ ๐ธ๐ฉ๐ช๐ค๐ฉ ๐ช๐ด ๐ฃ๐ข๐ค๐ฌ ๐ช๐ฏ ๐ต๐ฉ๐ฆ ๐ด๐ข๐ฅ๐ฅ๐ญ๐ฆ & ๐ข๐ณ๐ฐ๐ถ๐ฏ๐ฅ ๐ฑ๐ฐ๐ฏ๐ช๐ฆ๐ด.
Life โค๏ธ
๐ธ๐๐ ๐ฅ๐๐๐ฃ ๐๐๐ช ๐๐ ๐๐๐ฃ ๐๐๐ก๐ก๐ช ๐ก๐๐๐๐ ๐ด
โข
โข
โข
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ด๐ต๐ข๐ณ๐ต๐ฆ๐ฅ ๐ฉ๐ฐ๐ณ๐ด๐ฆ ๐ณ๐ช๐ฅ๐ช๐ฏ๐จ 4 ๐บ๐ฆ๐ข๐ณ๐ด ๐ข๐จ๐ฐ & ๐ฅ๐ช๐ฅ๐ฏโ๐ต ๐ณ๐ช๐ฅ๐ฆ ๐ต๐ฉ๐ณ๐ฐ๐ถ๐จ๐ฉ๐ฐ๐ถ๐ต ๐ค๐ฐ๐ท๐ช๐ฅ, ๐ด๐ฉ๐ฆ ๐ช๐ด ๐ญ๐ฐ๐ท๐ช๐ฏ๐จ ๐ฃ๐ฆ๐ช๐ฏ๐จ ๐ฃ๐ข๐ค๐ฌ ๐ฅ๐ฐ๐ช๐ฏ๐จ ๐ธ๐ฉ๐ข๐ต ๐ด๐ฉ๐ฆ ๐ญ๐ฐ๐ท๐ฆ๐ด ๐ต๐ฉ๐ฆ ๐ฎ๐ฐ๐ด๐ต, ๐ด๐ฉ๐ฆโ๐ด ๐ข ๐ฅ๐ช๐ง๐ง๐ฆ๐ณ๐ฆ๐ฏ๐ต ๐จ๐ช๐ณ๐ญ ๐ธ๐ฉ๐ฆ๐ฏ ๐ด๐ฉ๐ฆโ๐ด ๐จ๐ฐ๐ต ๐ฉ๐ฆ๐ณ ๐ซ๐ฐ๐ฅ๐ฉ๐ฑ๐ถ๐ณ๐ด ๐ฃ๐ฐ๐ฐ๐ต๐ด & ๐ฉ๐ข๐ต ๐ฐ๐ฏ.
๐๐ณ๐ช๐ฏ๐จ๐ด ๐ฃ๐ข๐ค๐ฌ ๐ฎ๐ฆ๐ฎ๐ฐ๐ณ๐ช๐ฆ๐ด ๐ง๐ฐ๐ณ ๐ฎ๐ฆ ๐ธ๐ฉ๐ฆ๐ฏ ๐ ๐ถ๐ด๐ฆ๐ฅ ๐ต๐ฐ ๐จ๐ฐ ๐ถ๐ฑ ๐ต๐ฉ๐ฆ ๐บ๐ข๐ณ๐ฅ ๐ฎ๐ถ๐ค๐ฌ ๐ฐ๐ถ๐ต & ๐ณ๐ช๐ฅ๐ฆ ๐ด๐ฐ ๐โ๐ฎ ๐ญ๐ฐ๐ท๐ช๐ฏ๐จ ๐ช๐ต ๐ต๐ฐ๐ฐ & ๐ด๐ฉ๐ข๐ณ๐ช๐ฏ๐จ ๐ต๐ฉ๐ช๐ด ๐ฉ๐ฐ๐ฃ๐ฃ๐บ ๐ต๐ฐ๐จ๐ฆ๐ต๐ฉ๐ฆ๐ณ ๐ช๐ด ๐ฑ๐ฆ๐ณ๐ง๐ฆ๐ค๐ต ๐ง๐ฐ๐ณ ๐ถ๐ด ๐ฃ๐ฐ๐ต๐ฉ.
๐ท๐๐๐๐๐ ๐๐๐๐๐๐ข ๐๐๐ ๐๐๐ ๐๐๐๐ ๐๐๐๐๐๐๐ข๐
๐๐ฆ๐ฆ๐ต ๐๐ถ๐ช๐ฏ๐ค๐บ ๐ด
๐๐ช๐ฎ๐ฃ๐ฆ๐ณ๐ญ๐ฆ๐บ ๐ญ๐ฐ๐ท๐ฆ๐ด ๐ต๐ฐ ๐ณ๐ช๐ฅ๐ฆ & ๐ต๐ฉ๐ช๐ด ๐ธ๐ช๐ญ๐ญ ๐ฃ๐ฆ ๐ฐ๐ถ๐ณ ๐ญ๐ช๐ต๐ต๐ญ๐ฆ ๐ฉ๐ฐ๐ฃ๐ฃ๐บ ๐ธ๐ฆ ๐ฏ๐ฐ๐ธ ๐ฉ๐ข๐ท๐ฆ ๐ต๐ฐ๐จ๐ฆ๐ต๐ฉ๐ฆ๐ณ โฆ ๐ค๐ข๐ฏโ๐ต ๐ธ๐ข๐ช๐ต ๐ง๐ฐ๐ณ ๐ต๐ฉ๐ฆ ๐ง๐ถ๐ต๐ถ๐ณ๐ฆ ๐ธ๐ฉ๐ฆ๐ฏ ๐ธ๐ฆ ๐ค๐ข๐ฏ ๐ฉ๐ข๐ค๐ฌ ๐ฐ๐ถ๐ต ๐ต๐ฐ๐จ๐ฆ๐ต๐ฉ๐ฆ๐ณ.
โข
โข
๐๐๐ข๐๐๐ง๐ก๐๐ฎ ๐๐ค๐ง ๐ฉ๐๐ ๐๐๐ง๐จ๐ฉ ๐ฉ๐๐ข๐ ๐๐ฃ ๐๐๐๐จ ๐๐ก๐ก๐ค๐ฌ๐๐ ๐ข๐ ๐ฉ๐ค ๐ฅ๐ก๐๐๐ฉ ๐๐๐ง ๐๐๐๐ง ๐ฉ๐ค๐ค ๐
SYNGAP1
Today is RARE DISEASE DAY 2021
Our Kimberley is rare ,one of a kind ,beautiful in every way.
Kimberley was diagnosed nearly a year ago with a rare condition called SYNGAP1.
A SYNGAP1 gene mutation can cause a variety of symptoms.
Symptoms vary between each individual affected and can range from mild to severe. The most common symptoms include:
โขLearning Disabilities
โขEpilepsy
โขBehavioural Challenges
โขAutism
โขSensory Processing Disorder
โขSleep difficulties
โขIntellectual disability
โขGlobal developmental delay
โขLanguage
โขHypotonia
& many more....
๐300 million people living with rare disease worldwide.There are over 6000 different rare diseases.
๐ 72% rare diseases are genetic.
๐ 70% of those genetic rare diseases start in childhood.
On rare disease day we call for action for people living with a rare disease to have equal opportunities to realise their full participation in family ,work & social life.
โก Rare is MANY
โก Rare is STRONG
โก Rare is PROUD
Kimberley wants to sign a huge thank you!
Honestly to all that have kindly shared & donated thank you so much.... this means so much to usโค๏ธ
Kimberley is 1 of 705 around the world to date diagnosed with a rare condition called SYNGAP1, we are raising awareness & funding for a treatment or cure one day for all affected by SYNGAP1.
SYNGAP1 is so rare & this is why we need to raise as much awareness as we can.
Iโll be fundraising till the end as a mom you want the best fit your children & I wonโt stop till we find a treatment. Kimberleyโs life is different to others her age & has,does & will affect her.
I feel so passionate as any parent would do about their child.
Our journey began when our concerns were raised when Kimberley was 6 months old but was told by a HV that Kimberley woukd soon meet her milestones in time, but milestones were not being reached, there was no babbling & Kimberley was non verbal , after many blood tests, examinations,assessments & mri scans ,consultants had said she was delayed but were unsure why.
Weโd taken part in a the 100,000 genomes project which was for the findings of rare diseases of patients without findings of a diagnosis, we knew weโd might not get any results but weโre determined & remained positive.
After a long wait of 4 years we were called to go to B*H to see our consultant back in March 2020 where she told us what Kimberleyโs results were.
I remember crying in the room with Kimberleyโs dad
Nick , the relief of finally having some answers of what had been a hard journey of what Kimberley had been through.
We were told SYNGAP1 was very rare & that only 250 in the world to date had it but were adamant that there were others & if awareness wasnโt raised we wouldnโt find treatment or even a cure.
Since that day I have not stopped researching Iโve virtually met other families in the uk and around the world, we are all working together to raise awareness & fundraise for a treatment or cure one day!
I will be doing a personal video of how SYNGAP1 affects Kimberley & us as a family soon to go inn more depth of SYNGAP1, so if anyone has any questions please pop them in the comments below & Iโll gladly answer them on the v
REPOST
แดแดษด๊ฐแด๊ฑ๊ฑษชแดษด๊ฑ แด๊ฐ แด ๊ฑแดแดแดษชแดส ษดแดแดแด
๊ฑ แดแดแดแด: ษชแด ๊ฐแดแดส๊ฑ สษชแดแด แดสแด แดแดสแดษขษชแด แดส สแดสแด แดแด แดสแดแดแดแด๊ฑ แดแดแดสแดสสแดแดแด
โฃ
โฃ
๊ฑแดสแดแด
แดสษชษดษข แดแดแดแดษชษดแดแดแดษดแด๊ฑ. แดแด
แดษชษดษช๊ฑแดแดสษชษดษข แดแดแด
๊ฑ แดษดแด
แด
แดษชสส ษชษดแดแดสแด แดษดแดษชแดษด๊ฑ. แดกแดสแดษชษดษข แดษด แดสแดสแดแดส ษขแดแดส๊ฑ. แด
แดแดแดแดส แดแดแดแดษชษดแดแดแดษดแด๊ฑ. แดสแดแดแดแด
แดสแด๊ฑ. แดสแดษดแด แดแดสส๊ฑ .สแดษชษดษข แดสแด แดสแด แดแดษชษดแด แดแดส๊ฑแดษด ๊ฐแดส แดแดษดแดษขษชษดษข ๊ฑแดแด แดสแดส แด
ษช๊ฐ๊ฐแดสแดษดแด ๊ฑแดแดแดษชแดสษช๊ฑแด๊ฑ แดษดแด
แดแดสแด แดแดแดแด๊ฑ. แดสแด
แดสษชษดษข แดแดแด
ษชแดแดส ๊ฑแดแดแดสษชแด๊ฑ แดษดแด
แดแดแด
ษชแดษชษดแด สแด๊ฐษชสส๊ฑ. แดสแด๊ฑแด แดสแด แดสส แดส แด
แดษชสส สแดแดสษชแดส แดษดแด
๊ฑแดแดแดแดษชแดแด๊ฑ, ษช ๊ฐแดแดส แดแดสแด สษชแดแด แด แดแดส๊ฑแดษดแดส แด๊ฑ๊ฑษช๊ฑแดแดษดแด สแดแดสแดส แดสแดษด แด แดแดแด แดษดแด
แดสแดแด ษช ๊ฑแดแดแดแดษชแดแด๊ฑ แดษช๊ฑ๊ฑ แดแดแด แดษด แดสแด สแดษดแด
ษชษดษข แดแดสแด แด๊ฐ แดแดแดสแดสสแดแดแด
.โฃ
โฃ
แดกสแดษด ษช แดษดแด ษช๊ฑษชแดษดแดแด
แดแดแดสแดสสแดแดแด
สแด๊ฐแดสแด ษช สแดแด
แดษชแดสแดสสแดส, ษช แดแดษดโแด ๊ฑแดส ษช สแดแด
สแดแดสษช๊ฑแดษชแด แดxแดแดแดแดแดแดษชแดษด๊ฑ สแดแดแดแด๊ฑแด แดแดแดสแดสสแดแดแด
ษช๊ฑ ษดแดแด ๊ฑแดแดแดแดสษชษดษข สแดแด แดแดษด แดแด แดส แดแดแดแดแดสสส สแด แดสแดแดแดสแดแด
๊ฐแดส, สแดแด สแดษชษดษข แด ษดแดส๊ฑแด, แดสแดสแดแดษช๊ฑแด, แดแดส๊ฑแดษดแดส แด๊ฑ๊ฑษช๊ฑแดแดษดแด, แดแด
แด แดแดแดแดแด, สษชแดษช๊ฑแดษด สแดแดแดกแดแดษด ๊ฑแดแดแดษชแดสษช๊ฑแด๊ฑ, แดแดแด แดกแด๊ฑ ษดแดแด ๊ฑแดแดแดแดสษชษดษข ษช แดแด แดส ษชแดแดษขษชษดแดแด
แดกแดแดสแด
สแด แด แดแดสแด แด๊ฐ แดแดแดสแดสสแดแดแด
. โฃ
โฃ
แดสแดสแด แดสแด แด
แดส๊ฑ แดสแดแด ษช แดกษช๊ฑส ษช แดแดแดสแด
แดแด๊ฑแด ๊ฐษชx สแดส แดสษชแดแดแดษด ษดแดษขษขแดแด๊ฑ แดษดแด
แดกแด แดแดแดสแด
สษชแด
แด แดแดกแดส ษชษด แด สสแดษดแดแดแด ๊ฐแดสแด ๊ฐแดส แด ๊ฐแดแดก สแดแดส๊ฑ ษดแดแด ษขแดแดแดษชษดษข ษชษดแดแดสสแดแดแดแดแด
สส ษข-แดแดสแด ๊ฐแดแดแด
๊ฑ, แดแดแด
ษชแดษชษดแด ๊ฑแดสแดแด
แดสแด๊ฑ, แดแดแดแดษชษดแดแดแดษดแด๊ฑ, แดส แดแดสส๊ฑ ๊ฐสแดแด แด
แดแดแดแดส๊ฑ. โฃ
โฃ
สแดแดกแดแด แดส, แดสแดแด ษช๊ฑ ษดแดแด แดแดส สแดแดสษชแดส แดษดแด
แดสแดแดโ๊ฑ แดแดแดส. แดแดสสแด แดษดแด แด
แดส, ษชแด แดกษชสส สแด สแดแด ๊ฐแดส สษชษขสแด ษดแดแดก ษช แดกษชสส สแดแดแดแดสแดส แดสแดแด แดสแด๊ฑแด แดxแดสแด สแดสแด๊ฑ ษช สแดแด แด แดแดแด
แด แดแด แดสแด แดแดส๊ฑแดษด ษช แดแด แดแดแด
แดส. แดแดแดสแดสสแดแดแด
แดแดส สแด แด สษชแดแดสแด แดแดสแด แดแดแดแดสแดx แดกสแดษด สแดษช๊ฑษชษดษข แด แดสษชสแด
แดกษชแดส แด
ษช๊ฐ๊ฐแดสแดษดแด ษดแดแดแด
๊ฑ, สแดแด ษชแด สแด๊ฑ แดแดแดษขสแด แดแด สแด๊ฑ๊ฑแดษด๊ฑ แดสแดแด ษช ษดแดแด แดส แดกแดแดสแด
สแดแด แด สแดแดสษดแดแด
ษช๊ฐ แดแดแดสส แดกแดสแด แดสแดษชแดแดส. แด
แด ษช ๊ฑแดแดแดแดษชแดแด๊ฑ แดกษช๊ฑส ๊ฑสแด สแดแด
แดษด แดแด๊ฑษชแดส สแดแดแด
? แดส๊ฑแดสแดแดแดสส. แด
แด ษช ๊ฑแดแดแดแดษชแดแด๊ฑ แดกษช๊ฑส ษช แดแดแดสแด
แดแดแดแด แดแดกแดส ๊ฑแดแดแด แด๊ฐ แดส แดxแดสแด แด
แดแดษชแด๊ฑ? สแด๊ฑ. แดสแดแด แด
แดแด๊ฑษดโแด แดแดแดษด ษช แด
แดษดโแด สแดแด แด แดษดแด
แดแด
แดสแด แดส ๊ฑแดกแดแดแด, แดสแดแดษชแดแด๊ฑ ษขษชสส ๊ฐแดส แดแด แดสส สษชแด แด๊ฐ แดกสแด ๊ฑสแด ษช๊ฑ แดษดแด
สแดแดก ๊ฑสแด สแด๊ฑ แดสแดษดษขแดแด
แดส สษช๊ฐแด. โฃ
โฃ
๊ฑแด, ษช แดกษชสส แดแดแดแด แดษด ๊ฑแดแดแดษชษดษข แดแด แดแด แดสส สษชแดแดสแด แดแดแดแดษดแด แด๊ฐ แดสแด แดษชแดแด๊ฑ ษชษด สแดแดแดกแดแดษด แดแดแดแดษชษดแดแดแดษดแด๊ฑ, แดสแด แดษชแดแด๊ฑ ษชษด สแดแดแดกแดแดษด แดแดแด
ษชแดษชษดแด๊ฑ, แดสแด แดษชแดแด๊ฑ ษชษด สแดแดแดกแดแดษด แดสแดสแดแดส แดษดแด
สแดแดแดแดสแดส แดสแดแด แดแดแดสแดสสแดแดแด
ษช๊ฑ สแดแดแดแดษช๊ฐแดส แดแด แดษด แดกสแดษด ษชแดโ๊ฑ แดแด๊ฑ๊ฑส. โฃ
โฃ
๐๐จ๐ฎ ๐ง๐๐ฏ๐๐ซ ๐ค๐ง๐จ๐ฐ ๐ฐ๐ก๐๐ญโ๐ฌ ๐ ๐จ๐ข๐ง๐ ๐จ๐ง ๐ข๐ง ๐๐ง๐ฒ๐จ๐ง๐โ๐ฌ ๐ฅ๐ข๐๐... ๐ฌ๐จ ๐๐ ๐ค๐ข๐ง๐.
โข
โข
Our Mental health matters more than ever right now !
โข
Please reach out to a family member, a friend, your GP , even someone on here ...anyone!!
โข
These are just a few pics that were taken after or during me going through depression & anxiety.
I smile on all them but you can see in my eyes that thereโs so much pain but I just felt so numb.
Iโm in a better ,happier & healthier place now I spoke out & got the help I needed & now I cope with life & its tribulations with a clearer head & Iโm here to tell my story.
Donโt give up on yourself ...Iโm here a DM or call away to listen.
โค๏ธ๐๐
๐ฒ๐๐โ๐ ๐๐๐๐๐๐๐ ๐ข๐๐๐ ๐๐๐๐, ๐๐ ๐๐๐๐ ๐๐ ๐ข๐๐๐๐๐๐๐
๐
๐ฆ๐ฌ๐ก๐๐๐ฃ๐ญ ๐๐๐บ๐ฝ๐๐ผ๐บ๐ ๐งฌ๐
แดสแด สแดแดก สแด๊ฑ ษขษชแด แดษด แด๊ฑ สษชษขสแด๊ฑ สแดแด แด
แดษดโแด ษดแดแดแด๊ฑ๊ฑแดสษชสส แดสแดษดษขแด แดสแด แดกแดส สแดแดก ๊ฑแดแดษชแดแดส ๊ฑแดแด แด๊ฑ ...
แดกแดโแด แด แดแดแดแด แดสแดษดษข แดกแดส สแดแด ๊ฑแดษชสส สแดแด แด แด สแดษดษข แดกแดส แดสแดแดแด
แด๊ฐ แด๊ฑ.
โค๏ธ
๐ฐ๐ ๐๐๐โ๐๐ ๐๐๐๐๐ ๐๐๐๐๐๐๐ ๐๐๐๐๐ ๐๐๐๐ ... ๐๐ ๐๐๐๐๐๐๐๐.
โข
โข
๐ฐ๐ ๐บ๐๐๐๐๐๐๐๐ข ๐๐ ๐๐๐๐๐๐๐ ๐๐๐๐๐ ๐ธ ๐๐๐๐๐ ๐๐๐๐๐ ๐๐ ๐๐๐ ๐๐๐๐๐๐ & ๐๐๐ ๐๐๐ ๐ ๐๐๐ ๐๐๐ ๐๐ข๐ ๐๐๐๐ ๐ ๐๐๐ ๐๐ .
๐๐โ๐ ๐๐๐๐ ๐๐ ๐๐๐๐ ๐๐ ๐๐๐๐๐ ๐ ๐๐๐ ๐๐๐ ๐๐๐๐ ๐๐๐ ๐ ๐๐โ๐ ๐๐ ๐๐๐ ๐๐ก๐๐๐, ๐๐๐๐๐๐ ๐๐๐๐๐๐๐/๐๐๐๐๐๐๐๐๐๐ข, ๐๐๐ ๐ ๐๐โ๐ ๐๐ ๐๐๐ ๐๐๐๐๐ ๐ ๐๐๐ ๐๐๐ ๐๐๐๐๐๐๐, ๐๐๐ ๐ ๐๐โ๐ ๐๐๐๐ ๐๐๐๐ ๐๐๐๐ ๐ ๐๐๐ ๐ ๐๐๐ข๐๐๐๐๐๐ ๐๐ ๐๐๐๐๐๐๐๐๐๐ & ๐๐๐๐ ๐๐๐ข๐๐๐ ๐๐ ๐๐. ๐๐๐ ๐ ๐๐โ๐ ๐๐๐๐ ๐๐๐ ๐๐๐๐๐๐๐ ๐๐๐๐๐๐๐ ๐๐๐ ๐ ๐๐๐ ๐๐๐๐ ๐๐ ๐๐๐๐ ๐๐๐๐ ๐๐๐๐๐๐๐ ๐ ๐๐๐ ๐๐๐ ๐๐๐๐๐๐ ๐๐๐๐๐๐ ๐ ๐๐๐ , ๐๐๐ ๐ ๐๐โ๐ ๐๐๐๐ ๐๐๐ ๐๐๐๐ ๐๐๐๐๐๐๐๐๐๐๐๐๐ ๐ธ ๐๐๐ ๐๐๐๐ ๐๐๐ ๐๐.
๐๐๐ ๐ ๐๐โ๐ ๐๐๐ ๐๐๐๐๐๐๐ ๐๐ ๐๐ ๐๐๐๐๐ ๐๐ข ๐ ๐๐๐๐๐๐๐, ๐๐๐ ๐ ๐๐โ๐ ๐๐๐๐ ๐ ๐๐๐๐๐๐ข ๐๐ ๐๐๐ ๐๐ ๐.
๐จ๐บ ๐ฐ ๐ป๐๐ท๐ฌ ๐ป๐ฏ๐ฐ๐บ ๐ฐ ๐ช๐น๐ ๐ฐ ๐ฎ๐น๐ฐ๐ฌ๐ฝ๐ฌ ๐ป๐ฏ๐ฌ ๐ช๐ฏ๐ฐ๐ณ๐ซ ๐ฐ ๐ป๐ฏ๐ถ๐ผ๐ฎ๐ฏ๐ป ๐ฐ๐ซ ๐ฏ๐จ๐ฝ๐ฌ ๐
๐ช๐๐๐ป๐พ๐๐
๐พ๐ ๐๐๐
๐
๐๐พ๐๐พ๐ ๐๐๐๐ ๐๐ ๐๐พ๐๐๐บ๐
๐
๐ ๐๐๐พโ๐
๐
๐๐๐บ๐ ๐ผ๐๐๐
๐ฝ ๐
๐๐๐พ ๐ฟ๐๐๐พ๐๐พ๐.
๐๐๐พ ๐ฝ๐บ๐ ๐๐พ ๐๐๐๐๐ ๐๐บ๐๐พ ๐๐๐พ๐บ๐๐๐พ๐๐ ๐๐ ๐ ๐บ๐ ๐ผ๐๐๐พ ๐ป๐๐ ๐๐พ ๐บ๐
๐๐ ๐๐๐๐๐ ๐๐๐ , ๐จ ๐ฟ๐๐๐๐ ๐๐๐๐ ๐๐๐๐พ๐ ๐ฒ๐ธ๐ญ๐ฆ๐ ๐ฏ1 ๐ฟ๐บ๐๐๐
๐๐พ๐ ๐ฟ๐๐ ๐บ ๐๐๐พ๐บ๐๐๐พ๐๐ & ๐๐๐
๐
๐ฝ๐ ๐๐๐บ๐๐พ๐๐พ๐ ๐๐ ๐๐บ๐๐พ๐. ๐ป๐๐ ๐จ ๐๐บ๐๐พ ๐๐ ๐ฟ๐บ๐ผ๐พ ๐๐พ๐บ๐
๐๐๐ ๐๐๐บ๐ ๐๐ ๐๐๐๐๐ ๐๐๐ ๐ป๐พ ๐๐๐๐
๐๐ ๐จโ๐ ๐บ๐
๐๐๐พ.
๐๐ ๐๐๐๐ ๐๐ ๐๐๐บ๐ ๐๐ ๐บ๐
๐๐บ๐๐ ๐๐ ๐๐ ๐๐๐๐ฝ ๐ผ๐๐๐๐๐บ๐๐๐
๐ ... ๐๐๐ ๐๐๐๐
๐ฝ ๐
๐๐๐ ๐บ๐ฟ๐๐พ๐ ๐๐พ๐ ๐๐๐พ๐ ๐จโ๐ ๐๐๐๐พ , ๐๐พ๐ ๐ฝ๐บ๐ฝ ๐๐บ๐๐ ๐บ๐๐บ๐ ๐
๐บ๐๐ ๐๐พ๐บ๐ ๐๐ ๐จ ๐๐๐๐๐ ๐๐๐บ๐ ๐๐๐ผ๐ ๐๐๐๐พ.
๐๐๐๐พ๐
๐ฟ & ๐ฟ๐๐บ๐๐ผรฉ ๐ฌ๐บ๐๐ ๐๐พ๐ ๐๐๐พ๐ ๐ฝ๐บ๐ฝ ๐๐บ๐๐พ ๐๐๐๐ ๐๐บ๐
๐ ๐ฟ๐๐๐ ๐๐๐๐พ ๐๐ ๐๐๐๐พ ,๐๐พ ๐๐๐๐๐ ๐พ๐๐พ๐๐๐๐๐๐๐ ๐บ๐ป๐๐๐ ๐ช๐๐๐ป๐พ๐๐
๐พ๐ & ๐๐๐บ๐ ๐๐ ๐๐๐๐๐พ๐ ๐บ๐๐พ ๐ฟ๐๐ ๐๐พ๐.
๐โด ๐ทโฏ ๐๐ฝ๐ถ๐๐๐ป๐๐โค
๐ป๐๐๐ ๐พ๐ป ๐ถ๐๐๐๐๐ ๐๐๐๐น๐ ๐๐ ๐ธ๐ฝ๐ถ๐...
โข
โข
๐ด๐๐ ๐๐ถ๐๐๐๐
๐ผ ๐๐ถ๐๐๐๐
๐ธ๐๐๐๐๐๐๐ ๐๐ถ๐๐๐๐๐
โค๏ธ
แทแฉแK TO แแแผOOแช
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Andddddddd sheโs back off to to school she goes , one of her happy places!
We have been a little out of routine for the Christmas holidays to say the least!
We have had major early wake up calls ,sleep routine has gone out the window , more aggression than ever , meltdowns you name it weโve had it.
Thankfully Kimberleyโs school has opened up today so going back to our family means a happy settled family.
As much as Kimberley LOVES Christmas she also LOVES her usual routine so any changes that happen can unsettle her & become very overwhelming for her she doesnโt cope well.
Last year was a write off when the schools closed, she had to deal with that then loosing her Dadda,moving house not being able to understand why she canโt go to the park on usual days out ...
So many changes to go through which mostly lead to challenging behaviour/sleep problems ....
We had no respite so for Kimberley & us as a family as a whole know that TODAY couldnโt of come any quicker !๐๐ผ
I understand whatโs going on in the world right now but MENTAL HEALTH is so important right now & Kimberleyโs NEEDS are at top of the list!!!!!
Whatever you choose to do regarding sending your children back to school or not...
just remember you have no idea whatโs going on behind closed doors with families....
We should all be able to choose whatโs right for our families ๐ฏ
I DOUBT BORRIS IS GONG TO POP ROUND & GIVE US SOME FAMILY RESPITE & DEAL WITH THE TOUGH CHALLENGES WERE UP AGAINST WITH HAVING OUR SEN CHILD OFF SCHOOL..... weโll just leave that on that ending!
I think a huge THANK YOU to all the teachers & staff in schools is needed... I take my hats off to you all in SEN OR MAINSTREAM SCHOOLS
It canโt be easy right now but Iโm so grateful youโre working trying to give our children some normality.
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