I Love Someone Who is Rare! {Rare Disease Day and a Giveaway!}

Today is Rare Disease Day! The Ballews will be wearing our jeans in support of all the kiddos who have rare genes. {Get it? It’s Homophone Humor! <— and that’s Alliteration Humor. And this is all part of my using humor to breach a difficult subject.}

Back to the words…

People often ask me, what does Adelaide have? What is it called? The answer is pretty simple. No one knows. There is no known cause for Adelaide’s symptoms and malformations. Adelaide has bilateral frontal polymicrogyria, mega cisterna magna, missing posterior brain matter, thinning of the corpus collosum, bilateral colpocephaly, and a flattened pituitary gland. A team of neurologists cannot tell us why she has these things, but they suspect there was a genetic mutation during development. The first tier of genetic testing showed nothing, but it only tests a few hundred things. Adelaide would need a complete screening of her DNA {upwards of $25,000 out-of-pocket} to give us a 10-15% chance of learning which gene was affected. At that point, it still doesn’t tell us how to treat her. So, we have opted to leave genetic testing off the table unless it becomes absolutely necessary.

I have also been asked, “What if someone offered you $25,000 to do it. Would you do it?” Probably not. If someone wanted to give us that much money, we would use it to pay for additional therapies, gear, etc to help us get Adelaide functioning closer to the level of a typical functioning child. If a hospital offered to do it because they wanted to use it for research, we would prayerfully consider it. So far, zero hospitals have contacted us.

Adelaide also has global hypotonia. The muscles in her body are weak. Especially her pelvic girdle. This is also a symptom of something else. It may have been caused by whatever caused her brain malformations, or it may have been caused by something entirely different.

Adelaide has seizures. We don’t even know which kind at this point.

Adelaide has hearing loss. At this point, she cannot hear things under 20 decibels.

This blog is full of inchstones, milestones, struggles, and what sometimes feel like downright defeats at times.

Today, we celebrate! We celebrate that Adelaide is alive and with us.

Today, we persevere. We persevere through not having a lot of answers. Not knowing what she will be able to do. We persevere through hours on the phone with insurance representatives and billing offices. We keep binders and binders of paperwork. We send stacks of papers to substantiation departments. We fax things like nobody’s business. If you ever wondered, “Who even uses fax machines anymore?” The answer is parents of kiddos with rare diseases. Dave and I have an amazing team who work beyond their paygrade to help Adelaide. It is not an easy job to determine what services can be offered to a child who has no label. Which petitions to push through and which to deny. They are in a difficult place of balancing the amounts they pay out for Adelaide with the amounts they pay out for everyone else in our health co-op. We are grateful for what we get, and God has always provided the rest through generosity of others and by giving us creative ways to bring more income into this house.

Today, we pray. We pray for all the children and adults living with rare diseases. It is not an easy life. We pray for their families and caregivers. We pray for the families whose babies are in the arms of Jesus. We also pray for the research hospital teams who are trying to find connections, which could give our doctors some answers.

In honor of Rare Disease Day, we wanted to do our *very first* giveaway! We are giving away a $20 Shutterfly credit! The credit can be used at www.shutterfly.com toward the purchase of photo books, prints, calendars, cards, stationery, home decor, and other goodies. We are so excited to offer one winner the opportunity to work with a company that cares as much about your photos as you do!

Entry is easy! To celebrate all that Adelaide has accomplished, just share your favorite ADELAIDE blog post on any social media site! Then, tell us in the comments of this blog post what you shared and where you shared it! You can enter once and the winner will be randomly chosen. The contest ends March 7th at midnight CST. Have fun!

 

Oh, and here is a ridiculously cute photo of Adelaide rocking her Valentine’s Day jeans during therapy at home with Mommy…

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3 thoughts on “I Love Someone Who is Rare! {Rare Disease Day and a Giveaway!}

  1. […] PS: Don’t forget to enter our very first giveaway in honor of Rare Disease Day! […]

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  2. […] honor of Rare Disease Day, we had our very first giveaway on the blog. A $20 Shutterfly gift card. Dave and I laughed so hard when not one person participated. We had […]

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  3. And she sat in a chair with wheels…

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