Today, for Rare Disease Day, I would love to introduce you all to my daughter, Bethy, and the terrible disease eating away at the person she is inside.

Gloomy, I know, but stay with me.

Bethany Grace has Juvenile Neuronal Ceroid Lipofuscinosisis (JNCL-3) or Batten Disease. Batten is a degenerative neurological disorder that affects an estimated 2-4 births per 100,000 in the U.S.

Bethy had a long history of heath challenges starting from before she was born, when we found out she had a stomach wall defect. But Bethy is a fighter and in her early years, she was a fairly normal and smart little kid.

Bethy loved stories and started reading early, in spite of her other developmental delays. She could read a short talk, clearly and with inflection, at four years old in front of the primary. Other parents told me they were a envious when comparing her with their own kids around the same age.

Today, she is fourteen and  I can barely understand her in everyday conversations. Batten Disease is slowly taking away away so much of what made up who she is. At five, Bethy started going blind, stealing her ability to read traditionally. At the time, this was a huge blow, but now is the least of all the challenges she’s had to endure.

At eight, Bethany had her first seizure, which is a frightening experience to witness. Over the next few years, her seizures started getting more frequent, going from several months apart to multiples in a day. Today, if we do not control the seizures with medication, we would lose her to them.

Over the next six years, her cognitive ability decayed. Her speech eroded. Her mobility got shaky. Her sleep was disrupted. Batten Disease continues to chip away at the core of the fun-loving, story-obsessed little girl with a big heart and huge dreams.

Today, it’s hard for me to look at other 14-year-old kids and not be jealous of their potential. Bethy will never get the experience most children get of being a teenager. She won’t drive a car, go on a real date, have many real friends, or pursue her love of telling stories or being in plays.

Treatment options are minimal. Basically, we control the symptoms. Some progress is being made, but Bethy is too old and too far advanced to take much advantage of it. I wrote this post to share a little about one rare disease I’m intimately familiar with for #RareDiseaseDay.
There are many rare diseases and so many families dealing with these special children who need a little extra kindness and a little more support from you.

If you ask them what you can do, they will likely not offer up any ideas. The reason is because they are tired and stressed. They do this everyday and have built their lives around their children and their situation. Adding another thing, even if it might be helpful, is hard and asking for favors is difficult. So don’t ask what you can do. Jump in. Bring them a meal. Take their children for an afternoon. Babysit an evening. Don’t offer without a date and time suggestion.

Make it easy for us to say yes.