English

Jordyn

February 2020

"Jordyn was born on April 18th, 2002. She was four weeks early but was ready to meet her two older siblings. It wasn't until Jordyn’s 1st birthday that she ran a very high fever and had multiple seizures. Three weeks in the hospital after numerous testing they sent us home with an epilepsy diagnosis with medications to treat it. At 18 months they told us she had muscle delays especially fine motor delay which we started physical and occupational therapy.

At 30-months-old they gave her the diagnosis of cognitive delays and speech apraxia. Which we started ABA and speech therapy to support. We completed genetic testing at this time with no findings. We went on for five more years with progress and setbacks. Many more medical tests and more genetic testing which all came back with no findings, as BPAN wasn’t even discovered until 2012. As parents we went through parent denial and depression and were happy with how far she had come with the diagnosis she currently had.

She could communicate her wants and needs through a limited but effective vocabulary, she could walk though she never ran, she could hold a color or pencil to draw and write, she was potty trained (finally at 8 years old), and above all she was happy. It wasn't until she was 17 years old that our neurologist suggested another round of genetic testing. My thought was why not anything to help her and also her older sister was thinking about starting a family, so hopefully it would alleviate any concerns she had.

What we were not suspecting was the diagnosis of BPAN that came December 13th, 2019. My 17-year-old is miss socialite, she is happy, she loves to go on hikes, she loves food, she loves to sing and so much more. And now I was being told that everything we worked so hard for she was going to lose and quickly. She was going to get to the point of not being able to walk, not being able to talk, not being able to eat, and to start being confused about places, people, and things. We were told the 50-60 years we thought we had together was going to be cut down to maybe 10-15 years if we were lucky. As parents we went through parent denial and depression all over again and swallowed what we had just learned.

Though now I am glad we didn’t know right away; I would have not pushed as hard for Jordyn to meet her milestones when she was younger and get as far as she has come. She has such a higher quality of life now and we view things day by day. Soaking up every smile and every laugh. Every “mom (I don’t want to go to bed. One more) movie please!” We live for the now and we cherish every second we have."

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