Diagnosis

On June 9^th, 2016 I received the following from my friend, Desiree, about her baby daughter, Daphne:

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I have been a little silent this week not knowing how to process the news we received last Friday from Daphne’s genetic test.  Daphne was diagnosed with Leukoencephalopathy with thalamus and brain stem involvement with high lactate.  This is a rare mitochondrial disease.  The chances of her inheriting two of the EARS2 mutated genes (the cause) from my husband and I (both recessive carriers and we did not know it) is around 1 in 4.3 million.  In 2014 when it was discovered there were only 12 cases in the world.  Unlike other mito diseases that have been researched for years there is not a lot of research on this type. Just like other mito diseases there is no cure, just treated with vitamins, supplements and co-factors. They do know there are two phenotypes: mild and severe.  All cases to date, even with overlapping similarities have been very different.  I do not know much more at this point.  This will likely be my last update; we have a blog where you can follow along if you want at https://www.lifeisradd.com/. 

Thank you for all your support!

Desiree

My response to Desiree was:

Desiree,

I certainly don’t know God’s plans, and I can’t fathom why your beautiful baby daughter would come into this world carrying such an incomprehensible burden.

What I do know is that each child is unique. So much so that we routinely tell children that they are “one in a million”. In Daphne’s case, she is easily “one in 4.3 million”! There is no way for me to predict them, but I’m sure that God has bestowed some really special gifts on Daphne that you are certain to discover as she grows.

I’m not a medical researcher, so there is little I can do for Daphne or your family, except pray. So…

• I pray for declining lactate levels in Daphne’s brain.
• I pray for medical research and cures for LTBL advance rapidly.
• I pray that you find strength and comfort in friends and community.
• I pray that you delight in Daphne, and she in you.
• I pray that Daphne will help your family grow closer and stronger, together.
• I pray that Daphne will cause Rich and Adelaide to astound you.
• I pray that Daphne will cause you to astound yourself.
• I pray that as she grows, Daphne will open your eyes to God’s grace and miracles.
• I pray that God strengthens and keeps you, Rich, Adelaide, and especially… Daphne!

Your brother in Christ,

Dave

These were the prayer prompters that I was thinking of as I responded to Desiree. You may have better ones. Either way, perhaps you can add little Daphne and her family to your prayers. I’ve decided to follow Desiree’s blog, so every time she posts something I’ll get an email, and be reminded to pray for Daphne. If you’d like to keep little Daphne in your prayers and you’d like to follow Desiree’s blog, too, click on the link in Desiree’s email (above), and then use the FOLLOW icon in the lower right of her blog.

Your brother in Christ,

Dave