The story of Kathryn
Kayla is a beautiful 3 and a half year old. Although she has so many things going on, she is so happy and lights up every room.
She was first diagnosed at 18 months with having global developmental delay, there was lots of possibilities of having cerebral palsy so our drs went down the path of genetic testing through the hospital. Once tested we were shocked to discover that Kaylas results came back with 2 super rare genetic diseases. Lamb-Shaffer syndrome and 1q43q44 deletion syndrome, both rare neurological disorders. Lamb Shaffer is super rare, when Kayla was first diagnosed there was only around 40 cases world wide, now there is around 200. 1q43q44 is even more rarer and very with little information.
Kayla has come so far, she has ongoing problems with her ankles and knees, she has swollowing difficulties, silent aspiration, speech delays and aspraxia just to name a few. We got told that she would most likely never walk unassisted and due to endless physio, orthotics, determination and to our amazement she started walking just after she turned 3. She can say a word here and there, but is very inconsistent, she can however communicate through using key sign auslan (Australian signing) she can now sign around 60 words.
There is so many unknowns and although faced with so many challenges and difficulties now and in the future, Shes still the happiest little girl with the biggest smile and cutest giggle laugh.
She loves the wiggles and loves to dance and sign along with Emma. In fact she first pulled herself up watching the wiggles and started copying their movements.
We are trying to do everything possible for her working closely with doctors, therapists and geneticists to hopefully one day find a cure for Kayla.