Thursday, February 7, 2013

Admitted to ACH and Confirmed Genetic Condition

As many of you may be aware, Kinsley was very recently admitted to Arkansas Children's Hospital for some testing. This came about in regards to the seizure-like activity I mentioned in my last post. As I said before, we had set up an appointment with a new neurologist and were set to have an EEG to try and capture the seizures on the test. So, last Tuesday I was told to keep Kinsley awake all day and bring her in in the afternoon for the EEG. They wanted her ready to nap during the EEG because her "episodes" were happening after naps each time. (BTW, have any of you ever tried to keep a 13 month old awake all day when she's been to therapy that morning and ALWAYS takes a morning nap—not an easy feat!) I'm not sure how, but we made it to the EEG with Kinsley still awake (this included some rigorous dancing, unnecessary diaper changes, standing out on the porch while it rained, a full body massage and any other thing I could possibly think of to snap her out of her determination to fall asleep).

She then proceeded to scream through the 20 minutes it took for the technician to hook her up to all the leads. She's not a fan of someone holding her head down and rubbing all over it with marker, glue, gauze, leads and then more glue while also being tightly swaddled to keep her arms still and having me hold her down too. But honestly, would you be? So, combined with already being more than ready for a nap and then screaming for 20 minutes, the second the guy was done she passed out. We let her sleep for about 25 minutes and then woke her to see if she would begin her spasms. It took a few minutes (of cute grogginess where she looked a bit confused, but kept smiling at me) but she did begin to have her arm spasms. She's always awake and aware when it happens and you might miss it if you weren't paying attention. But what often happened with her seizures would be her arms jerking up for a split second and her eyes would look upward at the same time. Other times it would be her head falling forward for a second before she would pull it back up. It would only happen for a split second, but it happened in clusters where it would repeat every five seconds or so for 5-20 minutes. So anyway, I was glad they were able to capture it then, but despite me trying to worm it out of him, the technician said he wasn't allowed to tell me anything.

Crazy hair after the EEG

The next day I got a call from the neurologist and he was recommending Kinsley be admitted for further testing as soon as possible. He did say it wasn't an emergency, but that we should go that day if we could. He also explained that it looked like Kinsley was having infantile spasms, which is a type of seizure which happens between 0-2 years old. As things turned out we made the trek to Little Rock the next morning and Kinsley was admitted that afternoon. As soon as we made it to the room Kinsley had to go through the whole rigamarole of being hooked up for an overnight EEG. I wasn't sure why they wanted to have her do another EEG when they had already captured the seizures before, but this was going to be video recorded as well so they could have a visual for the doctor to review.

Needless to say she did not enjoy having to be all hooked up again, but honestly that was the worst of the trip for her. After that was over she was much happier and was a pretty content little girl the rest of the time we were there. She played with her toys, slept well, ate well and was an all around trooper. At midnight the first night we were there she woke up and began having one of her spells. We quickly called in the nurses so they could watch, the video recorded the whole thing and the EEG captured the brain waves. When it was over she just rolled over and went right back to sleep. (I should mention that the spasms never seem to be hurting her or really bother her which I am thankful for).

So the next morning Kinsley got to get out of her leads, we met with the neurologist on the floor for that week who confirmed that they were indeed infantile spasms, discussed all our questions and basically got the ball rolling for how we were going to treat them. Kinsley began her medication that day. We were told this was one of two frontline medications used to treat infantile spasms and the best one to use for Kinsley based on her underlying neurological problems. The medication supposedly would take a few days to start to work or if not we would need to try increasing the dosage. At this point it seems to have slowed down how often they happen and lessened the intensity of the spasms, both of which we are happy about, but it remains to be seen if they will stop altogether or not at this dosage level.

Happy girl after the EEG leads were attached at ACH

How she felt while they were attaching them. :(

We spent one more night at ACH, mostly so they could make sure she didn't have any adverse reactions to the medication before we went home. The doctors, staff and nurses were all very kind and helpful while we were there making a not so happy event somewhat bearable. We left Saturday morning feeling hopeful that we were getting a good start to helping Kinsley overcome these seizures. We also had a few friends come by to visit, a good friend sent us down with a care package of goodies, Kinsley received some gifts and so many friends and family called, texted, messaged and most of all prayed for us all while we were there. We are so thankful for the wonderful support system we have had throughout this entire process. Thank you so much to all those who have helped in one way or another! We could not make it through this without the help and prayers of all of you. Again, thank you, thank you, thank you.

Riding around ACH during our second day

Eating a cookie from our care package

Additionally, this week we received Kinsley's genetic testing results back. It has been confirmed that she has Muscle Eye Brain disease (MEB). I discussed this condition and Walker Warburg Syndrome in my first post. They are both forms of congenital muscular dystrophy. Of the two syndromes, MEB is the milder form, for which we are very thankful. Also, based on her testing and mutations Kinsley has, the genetic counselor we talked with said that Kinsley has a milder form of MEB. Another praise! Of course we want this to be as mild as possible. However, I do feel it's important to point out that we don't really know what "milder" means. It seems likely that it means Kinsley will progress further than many other children with this syndrome (as we have seen so far), but it is still something she will deal with for the rest of her life. She will very likely have intellectual disabilities to deal with along with her motor delays, as we have already seen. However, we are unaware what all that will entail and it is our continued fervent prayer that God will give Kinsley as much development as she can possibly gain. There is a shortened life expectancy with this disease. However, I've read that in milder cases of MEB some people survive into their seventh decade. This gives me great hope for Kinsley. Once again, we will not set limits on her. We will give her every chance she has at the best possible life she can have. With your prayers I know Kinsley can show us God's amazing work.

One further prayer I have begun to pray is for a cure for this to happen one day in Kinsley's future. That may not happen, but the medical field is constantly researching and improving. Adult stem cell research has made tremendous gains in the past couple of decades. One day there will be a cure. Please pray it will happen in Kinsley's lifetime.

In other news, Kinsley has become a straw-sucking expert. It took her all of about two seconds to figure it out when I first offered it to her (although she wasn't expecting a drink to come through it and promptly spit it all out). The next day didn't work out as well, but on day three she had it down pat. :) I know this is small, but I wish to celebrate each accomplishment Kinsley makes.

Thanks for continued prayers! Kinsley's Botox injections for her eye alignment are next week. Please keep her in your prayers for this to be a successful endeavor. Thanks again! We feel so blessed by the number of you who have embraced Kinsley's story and continue to encourage us.

I'll leave you with a Psalm our new minister preached on a few weeks ago. It definitely hit home with me as I struggle with understanding why this is happening. It shows David's begging for answers and then his acknowledgement that God is there and is answering his prayer.
    How long, O LORD? Will you forget me forever?
        How long will you hide your face from me?
    How long must I take counsel in my soul
        and have sorrow in my heart all the day?
    How long shall my enemy be exalted over me?
    Consider and answer me, O LORD my God;
        light up my eyes, lest I sleep the sleep of death,
    lest my enemy say, “I have prevailed over him,”
        lest my foes rejoice because I am shaken.
    But I have trusted in your steadfast love;
        my heart shall rejoice in your salvation.
    I will sing to the LORD,
        because he has dealt bountifully with me.
                                                  (Psalm 13 ESV)


  1. Testing on children can be so difficult for parents. Thank you for sharing and keeping a positive attitude. We're praying for lots of blessing for y'all.

  2. It looks like already your prayers are being answered, and keep positive sweet Caroline. xx

  3. Praying for Kinsley & her parents. Thanks for blogging your journey so we can pray more specifically for your adorable little girl.

  4. First of all, she is so cute!!! I've been following your posts and praying for her. I'm sorry this has been tough on y'all and Kinsley, but God does hear you. Thank you for updating everyone on the details. I love details. They make people's stories come to life. I'll be praying specifically for her botox treatment to go well. Stay strong. You're such a great mom.

    - Rachal Blake

  5. Thanks for the update, sister! We will go onward and upward with our sweet baby girl.

  6. Thank you for this latest update, sweetheart! God is, indeed, guiding Luke and you in this journey with our darling baby girl! Always praying for you! We love you!

  7. Two things are so clear from this post: 1) Kinsley has the most awesome parents, 2) God is faithful and answers prayers! So abundantly. Thanks so much for the update.

  8. breaks your heart, such a sweet sweet baby girl. May God care for her, so much

  9. Praying for our Sunshine and her amazing parents. I am so thankful that she came to our family to live. I love her so much!

  10. I was thinking the very same thing that Larissa already said, but I'll repeat my thanks for your newsy update & am so glad to hear how well she's doing!

  11. It hurts when one of your own precious, beautiful children contracts something that they can't cure. After we left Farmington in 1994, our youngest son Jonathan began to exhibit muscular tics. After he was married and had 2 daughters he was finally diagnosed with Tourette's disorder. His tics take shape as audible barks and other noises, coupled with involuntary arm movements. People at Farmington remember him as the talented, funny smart preacher's kid. He was part of our family singing group at Green Valley. It breaks our heart to have people stare and glare at him today. In this way, we come close to understanding the struggle you go through. God bless, and prayers for you.
    --Bill and Saphronia Whaley