My name is Jaclynn. I’m 20 years old in a family of four children living in New Brunswick, Canada. I have two older sisters: Jessica (24) and Amanda (22) and a twin brother Jeremy.
My sister Amanda (Mandi) was a very vibrant and involved child. She kind of “led” the group of us kids in our activities–always suggesting new and fun ways to play games and holding on to important things like Christmas traditions, etc. Having such a strong faith and being such a positive, innocent and happy spirit, she brightened everyone’s life. She was a dancer, she played piano, she sang, she did quilting and horseback riding and diving… the list goes on. Her diagnosis at age 7 of Retinitis Pigmentosa (RP) was just another part of our journey through life. Adjusting to her vision loss was a challenge for the entire family, but that just became our “new normal”. Mandi’s most involved years happened after her diagnosis. Along with her many activities, Mandi began to learn how to read and write braille, how to walk with a cane for the visually impaired, etc. She started wearing very thick glasses to help her see, and we started helping her around more at night. By the age of 12, she was completely blind. Everything seemed normal otherwise until she went to high school. That’s when we first noticed that she was regressing cognitively. She started forgetting things she had already learned and was taking at least twice the amount of time to learn new concepts. Although she wasn’t as bright as she used to be, she was still able to graduate high school with honors and walked across the stage in her cap and gown with her cane to received her diploma.
We all sort of knew something wasn’t right at this point though. Mandi had been slowly losing more and more independence and we didn’t know why. She was getting mixed up more often and getting lost in the house, which was unlike her. Still, she had high hopes to go to university. Mom and Dad sat down with her one night and discussed options of what she could do the year following her graduation and it was decided that she would go live in Boston at a school for the blind to hopefully increase her independence and help her grow as an individual. This would also allow her to meet others like her. She completed her program there but her instructors noted that she had some issues losing her way and getting confused easily. Needless to say, all of this continued to build and after many many doctors appointments and tests, she was diagnosed with Neuronal Ceroid Lipofucinosis (NCL), Batten Disease, in the spring of 2013 when she was 20 years old. Following her diagnosis, each of us was tested. Two of the siblings are “unaffected carriers” of the gene and one does not have the gene at all.
We all knew something was wrong, but did not realize to what extent. I don’t think we fully realized even after her diagnosis, until the Christmas before last (Christmas 2013) when she really started to go downhill. At that time, she started to lose more and more ability to speak and she stopped eating. By January, she underwent day surgery to have a feeding tube inserted in her belly so we could feed her. By last summer (2014), she became total care, incontinent, unable to transfer on her own, and eventually wheelchair and bedridden. She’s still living now and we just take it day by day. My parents decided they wanted to keep her living at home, so we did some renovations to the house to make it more wheelchair accessible, etc. My parents also have relief care that comes in and allows my mother and father to still work and tend to other needs of the family. Mandi hasn’t really spoken much in a long time. She will, however, still mouth the words to familiar Gospel hymns or Disney songs that she so loved as a child. It’s been a journey, that’s for sure, but Mandi’s never failing faith and strength through it all is what has kept our whole family going. In all ways, she has been a blessing to our family. Her late diagnosis was hard to accept, but I wouldn’t trade one of those 18-19 years of having a “normal life” with my sister. I miss her smile and her beautiful personality every day!