Story submitted - 2022
Our daughter Isabelle was born in August 2017. I had no complications during pregnancy and all checkups were fine. Isabelle is our second born child, and we did not notice anything unusual. If anything, I thought Isabelle was ahead of my other little girl as a baby. She was babbling and walking along furniture. At 16 months old she had her 1st fit. We had to ring an ambulance. She continued fitting in the hospital. At first, they were treating her for meningitis, then a brain scan was done and determined epilepsy full brain causing fits.
Our daughter Isabelle was born in August 2017. I had no complications during pregnancy and all checkups were fine. Isabelle is our second born child, and we did not notice anything unusual. If anything, I thought Isabelle was ahead of my other little girl as a baby. She was babbling and walking along furniture. At 16 months old she had her 1st fit. We had to ring an ambulance. She continued fitting in the hospital. At first, they were treating her for meningitis, then a brain scan was done and determined epilepsy full brain causing fits.
Isabelle was put on Keppra, 3ml and still fitting. Approx 6-10 fits a day and they varied, could be jerking or staring. Then Epilim was introduced, 7ml and she stabilised. Over 2 years fit free, and now 5 years of age. Temple St will wait one more year and will try to wean her off. Isabelle is the first ever person to be diagnosed in Temple St.
Genetic tests were done and sent to Germany to find out why Isabelle got epilepsy. 8 months later on the 1st December 2020, Isabelle was diagnosed with NCBRS. A shock to the system is an understatement. We were just blown away by this news. Isabelle was born with this and information from Temple St determined the mutation in the gene didn't come from her dad or me, and it was from Isabelle herself. Random is how they explained it.
Genetic tests were done and sent to Germany to find out why Isabelle got epilepsy. 8 months later on the 1st December 2020, Isabelle was diagnosed with NCBRS. A shock to the system is an understatement. We were just blown away by this news. Isabelle was born with this and information from Temple St determined the mutation in the gene didn't come from her dad or me, and it was from Isabelle herself. Random is how they explained it.
It has been a tough journey however, Isabelle makes that all worthwhile with her smiles, laughter, and happy out personality. She lights up any room and is the making of our family. We wouldn't change a thing about her and are so proud with how far she has come. She only has 5 words but never stops making noise and trying to talk. She can follow simple instructions, hums and tries to sing songs. We know what she is singing and she loves to dance.
Isabelle has a hernia and has been waiting to be seen, she has also been referred to paediatrics and orthopaedics waiting lists. She has big teeth growing over baby ones slightly now, which may have to get pulled out. Other than that Isabelle is doing really well.
Isabelle has a hernia and has been waiting to be seen, she has also been referred to paediatrics and orthopaedics waiting lists. She has big teeth growing over baby ones slightly now, which may have to get pulled out. Other than that Isabelle is doing really well.
I found the NCBRS private family group shortly after diagnosis which has been so much support to me and a comfort to know that we are not alone on this journey. I have had the pleasure of getting to know Lee & Michelle Reavey and Nuala Ryan who have been so supportive to me and my family, thank you. I have also had the pleasure of getting to know Nuala and her son Charlie in person, who is an amazing lad in all that he has achieved. We had a trip to the zoo and have become fantastic family friends.
I hope my story helps. I know people's stories have helped me.
I hope my story helps. I know people's stories have helped me.
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