My daughters Story

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Savannah was born in 2003 our only daughter had finally arrived. We already had two very happy and healthy boys 9 and 3 years older than our daughter. Savannah  developped slowly was never a huge eater and was a few montlhs behind in her goals to what the boys were but we never had a reason to suspect that there was she was not developig "normally" in Feb 2005 Savannah started having seizures we thought at the time the tigger was a vaccine she had at the same time and the relationship between the two seemed to fit. in June 2005 Savannah's epilepsy esculated to her having clusters of seizures 3 -6 with in 3 hours once a week. Savannah  was started on anitiepileptics Eplium and Dilantan. Savannah went into to status once in July, Once in August and than in September 2005. Savannah walked out of the hospital and was still doing normal 21/3 -3 year old clear audidiable speaking normal to her age within 3 days of walking from hospital in September 2005 we woke to a very different child Savannah could not cry properly, she could not speak, she could not walk and had very limited and very poor fine and gross motor skills in her arms and no balance. This was the first time that we knew that Savannah's life had changed as we knew it. We were tested for RTS and every other syndrome, condition and disease over the course of 3 mths. all of the tests came back negitive and it seemed that Savannah was feel into the category of undiagnosed unexplained epileptic conditions. We spent alot of time getting Savannah's balance, ability to walk, basic talking ( however she now speaks in sound not clear speach). We went on our lives having MRI 's, Tracking her progress and epilepsy than in 2015 I pushed again for genetic testing I ahd been researching over the years and there were quiet a few Epileptic conditions that did fit with Savannah's onset and regression. other than the regression and epelepsy there were not viual or non visual signs to give us any clues as to what had happened. We pushed for Dravets and that cluster of similar syndromes to be retested and we got the resluts back to say that Savannah's tests had come back possitive for Rubinstein Taybi Sydrome and that she was a mild case. I can remeber thinking I had not even come accross that in any of my research.  Both Savannah's Neurologist and Peadiatritian were not expecting that as a result but rather expected her to test possitive for Dravets and they had prepared us for that result. So Nov 2015 our journey started with finally a diagnosis for our beautiful girl and it was a releif. We finally had information we could look to and it was a real sense of releif. The onset does seem to be different from others Savannah rolled by 6 mths and crawls by 9 mths, she walked by 14 mths.  All of these times are with in the normal limits of development and being in the early childhood idustry nothing seemed out of place.

It is difficult and can be isolating at times, we have learnt so much from our beautiful girl. she has always surprised us and keeps us entertained as well. We know that there will be many challenges in life for her and us but together we can face them all.