The story of Amanda
My story is about my hero my daughter Savanna Grace Thompson who is 3 , she is such a beautiful gift that was sent by God and I thank God for her and my other daughter Aubrie Nicole Thompson who is 7 everyday and for my amazing husband Jarred Thompson everyday , that is why I chose to become the State Leader Of Nord in Alabama because remaining silent does not raise awareness. That is why I’m blessed to have the opportunity to have an event at the state house February 25th for Rare Disease Day ,
This event is not only for my daughter Savanna Thompson it is for all the children and adults with rare disorders and to raise awareness not only in Alabama but for children worldwide.
Savanna Grace Thompson was born 6-12-2012 via csection , at 39 weeks after she was born my husband and I noticed that her right eye wouldn’t open up we just figured it was just swollen from the birth but little did we know all of the events after that would lead us to where we are today , on the 3rd day heading home from the hospital savanna started having seizures and we knew something was really wrong so we went to children’s hospital where savanna went through several tests of her brain and the results was devastating the Drs diagnosed her with benign infantile myoclonus jerks (seizures) they told us she would grow out of it and she has to a certain degree but she still has them, we decided to take her to Dr Leon Dure , a neurologist who opened our eyes to a lot he diagnosed Savanna with Microcephaly (small head size ) so he referred us to a genetics Dr. Dr Nathaniel Robin I highly respect Dr. Robin , he ran blood work on savanna and about a month later the results were in and that’s when we received devastating news that
My daughter Savanna has a rare chromosome disorder 7q36.1q36.3 deletion she is missing 36 genes from the long arm chromosome of 7,
And that really hit my husband and I like a ton of bricks and also our families still to this day I get choked up and emotional thinking about it I have to keep reminding myself that I have to be strong for Savanna and that’s what I do everyday and it’s what I’ll continue to do . Our 7 yr old Aubrie was born with a eye problem Optic nerve hyplasia to be exact it means her optic nerve in the left eye is smaller than the one in the right so she has to wear safety glasses to help prevent injury to the good eye she is one strong kid and a great big sister to her sister Savanna I thank god everyday for blessing me with these two amazingly beautiful kids. Savanna also has developmental delay, microcephaly, seizures, congenital ptosis , autism, and they are monitoring her for limb girdle muscular dystrophy type I.E. Savanna has had to see several specialists a heart dr a kidney/ liver dr but both dr visits turned out great with great news, she has a Gastro dr he has diagnosed her with acid reflux she also has IBS she has to drink special shakes everyday , she has a texture issue she won’t eat a lot of solid foods we are currently still on soft baby food but she will eat chips and some other snack foods but not all.
Savanna is so strong she goes through a lot on a daily basis but one thing about Savanna is never gives up no matter how hard a task she pushes through it She also had braces for her feet cause her ankles turned in , she has came a long way she can say at least 65 words and she knows sign language she is so smart and she catches on very quick, I just want Savanna to do anything and everything she wants to do And mark my words she will succeed in doing just that ! what the Drs say eventually she will stop learning and be completely dependent on me and my husband the rest of her life and my thoughts on that is God has this he has the final say in all of this no matter what challenges life throws our way we will not stop fighting for Savanna or our other daughter Aubrie.
I never knew sending a proclamation to Robert Bentley declaring February 29 in Alabama Rare Disease Day that would open up so many amazing opportunities to raise awareness for my daughter and all the other children and adults with rare disorders, I really have to thank Nord for helping me achieve all of this I never this all was possible but now I know it is and I’m not finished yet I will keep advocating and raising awareness till my last breathe