BiographyJaveria was healthy at 7lbs 11oz. She was meeting all milestones and in many ways she was achieving higher than the standard targets. She would love to read, say words and point at books. She was always smiling and loved to eat and try new textures. She had a very cheeky personality and was a very much ‘I know what I want’ girl.
At the age of 16 months my daughter was able to crawl and say words, she would cruise furniture and climb stairs. She would make her own way mysteriously out of the room and would say ‘no’ if we would follow her. When she got to 18 months we realised that she had developed a squint in her right eye. We could see a change in the mobility skills as she no longer would move off one spot and was not interested in walking much anymore. As months went on we saw a difference in the way she would crawl as she would often fall flat trying to move from the crawling position. Months went on and Javeria lost her ability to speak and even say mama and dada. A year changed dramatically in our lives as Javeria was no longer able to weight bear without support. She lost the ability to talk and would only mumble.
As parents we always thought of Javeria growing to have a big personality, who wanted to be independent as she wanted to do everything alone from such a young age. No one could feed her because she wanted to use the spoons in both hands and feed herself, she would take total control of everything. After many trips to the hospital she was diagnosed with a condition called infantile neuroaxonal dystrophy (INAD) that has no cure. This is an ultra-rare inherited disorder affecting 200 children around the world. The disease affects the nerve axons conducting messages from the brain to parts of the body which causes a progressive loss of visual, physical and mental skills. INAD has an autosomal recessive pattern which means each parent could be a carrier of the PLA2G6 mutation but do not show any effects.
Javeria is now at the age of 5, she has lost the ability to have any trunk control and is unable to walk, stand or even sit. From being a little girl that use to love getting messy and eating she can no longer support herself and is having to partially be tube fed to keep her nutrients up and save her from aspirating. INAD changed our lives completely and it is that hardest thing as parents we have had to face. We thought of her growing up to be a little madam who would have us running after her and demanding a lot of things, but we never got to see those days.
INAD ate away at my daughter leaving her non-verbal and dependent on her family. Every day is a struggle to see my determined little girl go through so much. Even though her physical strength is not on her side she is always trying to get involved by smiling and trying to lift her hand to touch our faces, even if it is to give us her parents the emotional support. We as a family want to raise awareness of her condition and hope for gene therapy to be delivered quickly to help maintain the skills and abilities she has.
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