Rare Disease Day 2022

Today is rare disease day! Seems like a fun excuse to post about our sweet Mary. Mary has CFC syndrome and since I’m posting because it’s rare disease day, I’ll talk about that first.

CFC occurs because of a mutation in 1 of 5 genes BRAF, KRAS, map2k1, map2k2, or YWHAZ. In over 90% of diagnosed individuals the mutation is de novo, meaning that the parents do not carry a mutation. The average age of diagnosis is age 4 and testing usually happens because of heart problems, growth delays, feeding difficulties, and seizures.

Mary’s biggest problem from birth was feeding and digestion. While they don’t understand why these mutations tend to cause digestive difficulties, Mary couldn’t take in or keep down enough food for her body to grow. Getting a feeding tube helped but wasn’t an absolute fix since she still had trouble keeping the food down. She didn’t have a heart defect and she hasn’t had seizures. She sleeps in a back brace because of severe scoliosis and with a CPAP because of severe sleep apnea. Mary’s feet are so sensitive that if you try to tickle them, you’re more likely to meet a wail or an angry shout than a giggle. She gets all her food and water through her feeding tube. Every 6-8 weeks she has an infusion at the hospital to boost her immune system because she doesn’t fight infections well without the help. Her doctors are all at Cincinnati Children’s Hospital because God provided when I prayed for a medical team that would help when she was little and I’m still thankful every time we go for her appointments.

Mary is feisty and loud. She hates loud noises and gets scared easily. Ironically, she herself is also very noisy. She’s a pro at maneuvering her wheelchair although she hasn’t made much progress with standing and walking. She’s learning how to communicate with us through her iPad. She gives great hugs and slobbery kisses. She adores her baby sister and is still learning how to express her love to her gently😂.

As a visitor, you may not realize it, but Mary makes our home a better place to be. She makes us tender and she keeps us honest. She teaches our hearts patience and her suffering points us to eternity. Does my faith waver raising a special kiddo? Yes, it does. But God is faithful and strengthens me for the work. He keeps drawing me back showing me when roots of bitterness spring up, convicting me of my complaining attitude, uncovering my lack of gratitude. And He gives us special joy in Mary. Her hugs are a recent development and a special gift since she’s never been much for showing affection before. Each new milestone is met with joy and while they’re usually small changes to the outside observer they’re huge to us.

We pray for Mary that God will protect her from seizures, that her doctors will be wise, that her back will be straight. We pray that she will grow in her understanding, that she will love God, that she will grow in joy. And we pray that her life will be a blessing to many.

“But he said to me, ‘My grace is sufficient for you, for my power is made perfect in weakness.’ Therefore I will boast all the more gladly of my weaknesses, so that the power of Christ may rest upon me.” 2 Corinthians 12:9

7 thoughts on “Rare Disease Day 2022

  1. Thank you for posting this, Hannah. The struggle is real and yet what a clear blessing Mary is to your family and all who know her. Praise God for sweet girl hugs and that smile of hers!! I’ll continue to pray for wisdom with her care and that her back would straighten without invasive measures. May the Lord continue to bless you all with patience, endurance, and joy. 🙂

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  2. Thanks for sharing! She is growing and doing many things that bring joy to her and others. I love seeing her spending time with others. What a beautiful smile! May God continue to watch over her and guide each of you as you journey with her. I love how thankful you are for all the little blessings along the way.

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  3. Thanks for this beautiful praise, Hannah! It’s so nice to see the pictures. There’s so much more life in her eyes than earlier in her life that I’m sure God must be answering your prayers that she be joyful. She reminds me so much of her Grandma Doris in her expressions!

    Love, Shelly Haagenson

    Sent from my iPhone

    >

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  4. Thanks for this beautiful update, Hannah. Mary is a joy to be around. I enjoy seeing her get around independently at church. Thankful for you and Lucas in your selfless care and loving example.

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  5. Thank you, Hannah, for sharing your family’s special and loving story. Mary is such a precious gift from God. I love the scriptures you have shared that are so important to you
    and give you the strength and confidence that the Lord is present with you all and shows you
    His love in the little things like her hugs. Prayers for you and your family and the continued wisdom of the doctors.

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  6. Thanks so much for posting this! She is such a beautiful little girl despite her difficulities! May God bless your family in thr years to come.

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