Saturday, October 31, 2009

Our nf appointment

Abigail enjoying the water in Riley...

Abigail walking around in between appointments...

The first neurologist appointment has been completed. We went, we saw, and came home tired. Over all it was a pretty great day considering it was spent entirely at Riley Children's Hospital outpatient. Abigail only got sick once on the way down...and we were so prepared that we didn't have to change her clothes or wash her car seat again. Her sweat test worked this time (and she does not have cystic fibrosis). So we won't have to do that again. Her hearing is great. We ate McDonald's for lunch (and Abigail had her very first happy meal...judge all you deserved some fast food), and Abigail loved all of the stuffed animals and water fountain in the hospital. She loved being able to walk holding our hands.
The neurologist appointment was this afternoon. First of all we came to the waiting room and there was a mom with her two kids. They all had nf. I doubt that others would have been able to look at them and tell, but all of my research has brought me to a point where I saw it right away. Then we waited and Abigail played for a while. I overheard someone telling someone else that this was the nf clinic...the disease the elephant man had. I nearly said something to them...but contained myself before I caused a scene. The elephant man had proteus syndrome. Not nf. For some reason though he is still associated with this disorder.
When our turn came we were both feeling...fine, calm, and ready to face whatever the Doctor had to tell us. We saw a med student first...went through history....other health issues....and on and on. Then the doctor came in and examined her. Annoyingly he still can't "officially" diagnose her.
Nf1 has a list of things that can get you diagnosed. You must have two. Abigail has two...sort of. You have to have 6 or more cafe au lait spots that are at least 5mm. She has 30 cal...but only five that meet the size criteria. You have to have groin or auxiliary (arm pit) freckling. She does...but she only has two freckles...and you must have three. So we are one cal and one freckle short of making it official. For those of you who don't know about nf she will eventually meet the criteria as things appear more as the person ages.
The last part is the only thing that is sort of scary as a parent. Abigail has macrocephely (a large head)...which we knew. It is also very common with nf. She apparently has lower muscle tone as well. On top of that she has not grown at all in height in the past few months. So the things these could point to are hydrocephalus (which is also something that can come with nf) and a tumor somewhere causing issues. So next Tuesday we will go back to Riley for a brain MRI.
So overall the day didn't feel good or bad. I think we had researched enough that we were not shocked by anything he told us. We aren't very upset about any of it right now. I feel like we can feel the prayers of the saints washing over us with peace. We are not fearful.
We are grateful to be surrounded by people who love us and love Jesus. There is something truly peaceful to be sitting and knowing that people all over the state, country, and a few in other countries are praying for us, and thinking about us. So thank you everyone. We appreciate all of you more than you will ever know. We will continue to update when we find out more.

Filled with the peace that passes understanding,


  1. Praise God for a good day~ at least as far as car sickness and no naps! I prayed for guys all day, but I didn't expect to hear anything until tomorrow. Thanks for the update.

    Still praying!

  2. Even though Len was diagnosed as an adult (upon discovery of tumours), we were later told by a geneticist that an NF diagnosis could be confirmed through testing. Has this been offered to you? I hope you don't mind to say that I find it so interesting and eye-opening to read your experience. I struggle sometimes with regret that Len's parents hadn't known about his NF, and how if they had, they could have made this life easier (dealing with learning disabilities, his scoliosis, etc)... but reading your story makes me realize that while it may have made life easier for my husband, his parents' lives would have been soo difficult. I'm thankful that the Lord has brought me that realization through reading your and Abigail's story.
    Praying for the brain MRI next week. Len has his second one tomorrow. Keep the faith, friend!

  3. Thanks for sharing, Andrea. I can tell by your post that you are feeling God's peace right now. Praying that His peace remains tangible to you throughout this lifelong process.