We are on our way home from Karis’ visit with Dr. Escolar at UNC. We have learned a lot about what is going on in Karis’ little body. This has been a very daunting, encouraging, depressing, hopeful, scary, comforting trip for Trevor, Karis, and me. As you can imagine from the sound of it, we have been pulled in MANY emotional directions. However, God’s presence and protection has been with us every step of the way. Let me explain:
The Bad News
One of the routine tests Dr. Escolar did for her study was a MRI. Since she did such a thorough physical exam the day before, she noticed a protrusion on the back of Karis cute (but big) head. The MRI revealed a very bizarre finding: Karis has very significant hydrocephalus. This is excessive cerebrospinal fluid (CSF) that has been building up on her brain since birth. For some reason, the “tube” that drains the excess CSF off her her brain is extremely narrow, to the point where it is almost closed. (P.S. The head of UNC radiology just happened to be standing behind Dr. Escolar to help her diagnose and interpret this hydrocephalus… Thanks Lord 
) Interestingly enough, the MRI also showed that Karis’ nerves are much more myelinated than Dr. E expected. (This is a very fantasic thing)
Since the fluid is taking up so much space in her brain, her cerebellum and brainstem have not had a chance to grow and are both very small. We must consult with a neurosurgeon as soon as we get home so we can determine which way will be best to get the fluid off of Karis’ brain (well, technically out of her skull). This can happen one of two ways:
1) Insert a shunt into her brain so all the excess fluid is directed from her skull to her abdomen and expelled from her body. This is a very invasive procedure.
2) Go in every few months (say, every 6 months) and drain off the fluid that has been building up since the previous visit.
Here’s something crazy: Hydrocephalus is not related in any way to Krabbe. Not at all. This has left our brilliant Dr. Escolar scratching her head a bit.
The Good News
1) When Dr. Escolar performed the spinal tap on Karis, she very astutely pulled off a little extra spinal fluid. She is hoping that this will make a difference for Karis until we can get her into a neurosurgeon.
2) Along with her nerves being more myelinated than they should be, the nerve conduction study showed MUCH faster nerve communication than Dr. Escolar is used to seeing in Krabbe patients with this onset. Yay! This leads her to believe that some symptoms Karis is having is due to the hydrocephalus, not Krabbe. We are hoping that once Karis is relieved of this excess fluid, she will be able to open her eyes wider, dilate her pupils, more her limbs more, maybe have better head control, and certainly be in less discomfort.
3) Karis’ gene mutation for Krabbe is very abnormal. From what I gathered, there are always 2 genes that are mutated in Krabbe. The first gene is an expected mutation and very normal to see. The second gene is normally the “30KB,” which is responsible for the rapid decline in infantile onset Krabbe. Karis does NOT have a mutation on this gene! Praise God! Dr. Escolar has not seen the type of mutation Karis has. This could mean less severe progression of Krabbe. Praise God! (again )
The Lord has been SO faithful to us. He is taking care of our family and answering our prayers to preserve our little girl. Though the news of hydrocephalus was scary, it could be a blessing in disguise if relieving her of the fluid helps Karis function better. We will keep you updated as things progress.
12 Comments
Oh Katie, this is AMAZING news! I’ll pray that draining the fluid will substantially improve Karis’ abilities and that God will bless her with a much less severe version of Krabbe. I don’t know what that would look like but I know that God is able to heal all sickness and disease. I’m so excited for you, and I’ll be praying that you and Trevor will be able to make the right decisions going forward. Obviously going to UNC was God’s merciful leading!
Katie and Trevor, Sandra and I are absolutely astonished by this news. I am still not sure we really understand everything it means. I do know that God is working in Karis. He has a plan for her far more wonderful than anything we could ever hope for or imagine. We need to continue to praise him and pray for Karis. I also pray that these trials be lightened on both of you and that God uses these to strengthen you both for the furtherance of his will.
Katie,
I am crying tears of joy for you right now. I know this does not mean she is cured but it means soooo much for all of you. I am so happy that God has chosen to prove miracles in Karis. All of this praying is working and I will continue praying for Karis and for you all every single day! We love you guys and are so happy for you all. Please give Karis hugs and kisses from us.
Love,
Courtney, Dave, Gabriel and Victoria.
Once more, thank you Katie for sharing the news, good & bad, about Karis. I pray that the reduction in hydrochephalus will help Karis. Interestingly, hydrochephalus IS associated with Alexander’s Disease, which is another, & rarer, Leukodystrophy. I’m not suggesting for a moment that Karis has this. I have the greatest respect for Dr. E. & her judgement. I just thought it was worthy of note.
Ken. XX
Katie,
I go to the Mom’s Bible study at Redeemer. I just wanted to let you know we have missed you and hope you will be able to come again. I know you have a lot going on at the moment. I will be praying for your beautiful daughter!! Thanks for sharing your story.
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Katie, we have seen miracles- true modern day miracles in your lives. Thank you for sharing!! Wow wow wow wow WOW!!! God lives! God is real and God is GOOD. He hears and answers prayers and Karis is beautiful, living, breathing proof! We love you guys!! Congratulations!!
I’ve been praising God for this report!
Thanks for this update. The hydrocephalus IS a very positive finding in many ways. The trip was well worth it. great news on the Nerve conduction velocities!
Katie,
This is so exciting and I know scary. We will be praying that draining the fluid will give Karis some relief. God is good
Love you!
Bec
Dear Mr. & Mrs. Almy,
This is, for the most part, very good news. Karis and your whole family are now a part of my daily prayers and, hopefully St. Jude will be able to convince Jesus to perform the healing I am asking for. I am the Night Auditor at the Durham Marriott @ the Civic Center. The next time you bring Karis for an evaluation, please contact me if you think that you would like to stay at the Marriott where I work. I can pretty much guarantee a rate of $79.00 per night plus the tax (13.75%). Let me know if this rate would help; (our corporate rate is $179.00). You will need to contact me personally because I have to pull some strings to do this. My home number is 919-761-8614. Leave a message if no one picks up and I’ll get back to you. The other little girl, Emma Rilee Daniels, and her family have stayed with us while she was a patient at both Duke and UNC (same physician) which is why I know about them. I have been offering prayers for her and the members of her family since I met them. I have to say, that your courage, grace, and class in the face of your daughter’s affliction is, to put it bluntly, inspiring. I will post from time to time to stay in touch. In the meantime, I remain truly,
Yours in the hearts of Jesus & Mary,
Arvin Brown
Hi Katie and Karis,
I read your blog often to keep up with this precious girl. I know it was evident I fell in love with her when she had her G-tube put in. As a nurse I work with the neurosurgeons at Batson frequently. I would love to talk with you their team if you would like. Please give me a call if there is anyway I can help. 662-285-7790.
Anna
Thank you so much Anna!! When will you be working again? Karis and I will be there today and we’ll stop by and see if you’re working