A pain in the neck

I spent five hours this afternoon at Centra Care and the hospital emergency room with Ben. He’d suddenly come down with intense pain in his neck, and couldn’t hold his head straight or turn his head. When I looked at his neck, I could see a lump.

The Centra Care doctor wanted to get bloodwork done, as long-term steroid use can cause a variety of complications. Since they don’t do bloodwork there, she refunded my co-pay (!) and sent us off to the ER. They did the bloodwork, which came back normal – yay!

He was diagnosed as having torticollis, a painful muscle spasm in the neck. They gave him Tylenol with codeine and said he should feel better in a couple of days. Bless his heart … he rarely feels pain, but this is really bothering him.

Funny thing – Emma had the same thing when she was an infant. Such strange ailments they get … why don’t my kids ever just come down with the common cold??

NIH and NYU news

Some of the results have come in from Ben’s NIH tests. While the news is good so far, it is also not helpful diagnostically. His EEG was normal, so no seizures. That’s four+ years seizure-free! His MRI spectroscopy was normal. His spinal tap, done to look for evidence of a mitochondrial disorder, was normal. He tested negative for NCL3 (Batten Disease), as I’d posted earlier. His PT evaluation showed reduced flexibility in his ankles/feet, and we have some PT stretches we’re to do to help with that. We’re now waiting for the chromosomal microarray to come back.

The chromosomal microarray technology hasn’t been around very long. When we saw a geneticist in Orlando several years ago, she protested that finding a genetic cause for Ben’s condition was just too hard. There are so many genes doing so many different things, and she would have to know which one she was testing and what she would be looking for. It was like looking for a needle in a haystack. We saw a geneticist at NYU a couple of years ago who had some ideas about which genes to test, but each test took about six months, so we were averaging one or two genetic tests per year. He told us it could take years to find the right one … if we ever did.

Behold, the microarray. From what I understand, it is more like a shotgun approach, looking at hundreds or thousands of genes at one time, detecting even slight mutations or deletions. Some sources say that the microarray has a 5-12% chance of picking up abnormalities that other testing did not. The beauty of this test for us is that the NIH is covering the cost, and they expect results back in 4-6 months. Since the other tests didn’t show abnormalities, the genetics fellow told us they’ll let us know what our next step will be once the array results are in.

Meanwhile, we’re waiting for the report from the ophthalmologist to come in, too. We know he has Stargardt, and he is enrolled in the NIH study for that. We just want to know what his vision has progressed to. He’s been having a bit more difficulty with it lately.

On a related note, I’ve been in contact with his NYU doctor regarding his steroid treatments. I asked her how often he would need to have the inpatient doses, and if she knew of a colleague in our area who would be willing to do them, as travel to NYC is so expensive. She told me that they have an organization that can help with lodging and perhaps airfare, which is wonderful news … especially since she said he should have the treatments every 3-4 months! Those of you who know me well … ok, you don’t have to know me well to know this … I’m feeling like the luckiest girl in the world, having to travel to my Happy Place so often. Beyond that, I’m so very thankful for a doctor who is willing to continue treatment based on great results, despite having no firm diagnosis. As she said, “At NYU, we go by experience, but most colleagues will disregard this as anecdotal. This could be true, but we don’t mess with success.” I can’t tell you how huge that is to us! After all these years, and all the doctors, no one had offered us real help because he didn’t fit neatly into a diagnosis. She was willing to try the steroid treatment, and it has made an enormous difference in him. At this point, we don’t really care why. We are just thankful to see him so much healthier and happier and … present.

Score!

Soooo excited! I’ve been wanting to get a CCTV for Ben for a couple of years now. A CCTV would allow him to magnify any object up to 35x – far more than any handheld magnifier he has. It also has a larger screen, so it is easier for him to see and enables him to see more of a page at once. The sticking point was that CCTV’s cost around $2,000.

I’ve been watching Craigslist for a CCTV, but folks who were selling were asking between $500-$1,500 – still mighty steep. Last week, I emailed a guy who was asking $500 for his SmartView 3000. I explained Ben’s condition, and asked if his price was negotiable. I told him we could offer $150. I acknowledged that that was much less than he was asking, but figured the worst that could happen was that he would say no. He said he would be “more than happy to lower the price to $150,” and that baby is ours! My dad picked it up for us, since it was close to his house (and then mom and dad refused to let us reimburse them … so I guess really it was free. Thanks a million, Mom and Dad!) And thanks “HiJoe69″ for lowering your price.

Ben is beyond excited. He jumped up and down and cheered when I hooked it up and showed him what it could do. He can even use this to see his DS screen better … which, of course, was the most important usage, in his opinion.

Reading his spelling lesson story today

Praise!!

We got a call from our genetic counselor at the NIH today, who had the results of one of the genetic tests they ran. This was a test for a rare form of Batten Disease, which is a horrible, horrible disease. You may remember that Ben had a skin biopsy for this a couple of years ago. The folks at the NIH said the skin biopsy isn’t all that reliable, and that they had access to the genetic test. The did the test, and the results are NORMAL. That is a huge relief, and put a giant smile on our faces. We are so very thankful.

While I had her on the phone, I asked about the results of the other tests they ran. She said she’ll poke around the computer and see what’s the hold-up.

Field trip

We had a nice day out at our field trip to Dinosaur World yesterday. I didn’t realize that the Dinosaur World in Cave City, near my hometown, is part of a sort of chain of Dinosaur Worlds. So Ben has been to two out of three of them now. He really enjoyed this field trip. I know it’s hard to believe, but he nearly talked my ear off about all the dinosaur placards he read. Both kids (and me, too!) enjoyed a leisurely day hanging out with friends.

Fossil dig

Non-update

For those of you wondering about the results of all those tests at the NIH … me too. :-/ They told us that they would send us the results once they’ve processed all the data. So I’m patiently kicking back and waiting for that to happen. HA! Who am I kidding?! I run to the mailbox every day as soon as the mail carrier pulls away, then trudge back to the house feeling every bit like Charlie Brown on Valentine’s Day. Pray me some patience, please?

He is risen!!

We had a wonderful Easter this year, starting with our Passover seder yesterday. As I mentioned in a previous post, this year’s school curriculum includes some Jewish celebrations. So far, we’ve observed the Sabbath, the Festival of Tents, and the Passover.

Before we started, we did a symbolic search for chametz, or products with leavening. I’d broken a piece of bread into 12 pieces and hidden them in the living room for the kids to find. We talked about how we also need to look inside ourselves to see if there’s any sin we need to get rid of, as it can grow if left alone. We put the pieces of bread into a paper bag, took it outside, and burned it.

Washing hands

Dipping his parsley into the salt water – we talked about how the salt water represented the tears of the Israelites in slavery, and the parsley represented the fertile Promised Land.

The Afikomen

Matzo ball soup. eh

Early-morning egg hunt in the back yard

Off to church – He is risen!!

Egg time

Yesterday, we colored our Easter eggs. The kids love this tradition, and I enjoy watching them get creative … and make a mess. Seems like the best memories come from the biggest messes!

We’ll use some of their eggs tonight in our Passover celebration, which is included in this year’s curriculum. Celebrating Biblical Feasts again provides wonderful parallels between the Old Testament and New Testament celebrations of the feasts and festivals.

Thinking on this tonight …

2 Timothy 1:7-12 - For the Spirit God gave us does not make us timid, but gives us power, love and self-discipline. So do not be ashamed of the testimony about our Lord …. He has saved us and called us to a holy life—not because of anything we have done, but because of his own purpose and grace. This grace was given us in Christ Jesus before the beginning of time, but it has now been revealed through the appearing of our Savior, Christ Jesus, who has destroyed death and has brought life and immortality to light through the gospel …. I know whom I have believed, and am convinced that he is able to guard what I have entrusted to him until that day.

One year

This week marks one year since my sister died, so I’ve spent the past week or so thinking about that. A year has gone by, and I still haven’t figured out how to mourn for her. I’ve heard that there’s no right way or wrong way to mourn, that it’s as individual as each person. But I don’t feel like I’ve found any way.

On the one hand, she was a part of my life from my very first day. She was the one who played in the attic playroom with me, where we discovered that crayons melt in the summer and where I turned that moo-ing cylinder over and over to make it moo. She was the one who argued with me at the kitchen sink while we quickly washed and dried the supper dishes so we could go play with the girls next door. She was the one who would perch with me at the top of the staircase too early on Christmas morning, waiting until we thought it would be safe to wake up Mom and Dad. She was the one who taught me how to make chocolate-peanut butter-ice milkshakes in the blender (still making those). She was the one who was pretty and girly, so she did my hair and makeup for me for prom. She was the one who’d yell at me as I camped outside her bedroom door and pestered her when she had friends over. She was my first friend.

On the other hand, we were as opposite as night and day. She was girly, and I was a tomboy. She loved hanging with friends, and all I needed was a good book. She’d go cliff diving at the lake and skating at the roller rink, and I kept my feet firmly on the ground … and behind a book. I loved rules – needed them – and she just didn’t. I was a thinker, and she was a doer. She lived fast and furious, and I lived slowly and cautiously.

Our lives took drastically different turns, and hers ended much too soon. I guess that’s part of why I’ve started running 5k’s and adding to my Wall. I realized last year that I want to look back at my life, when it’s done, and see that it tells a story. I want to make this life count. Maybe that is how I’m grieving.

I was thinking about this in church on Sunday, thinking, “This week marks the anniversary of her death.” Instantly, I heard in my heart, “This week marks the anniversary of Christ’s death, too.” What a beautiful coincidence that is. The date of Linda’s death and the date of the death and resurrection of the One who obliterated death, all in one week. Because of His death, she’s no longer dead. Because He took our punishment, she is free from condemnation. Because of His sacrifice, she is whole. And because of that, I don’t “grieve like the rest of mankind, who have no hope. For we believe that Jesus died and rose again, and so we believe that God will bring with Jesus those who have fallen asleep in him. According to the Lord’s word, we tell you that we who are still alive, who are left until the coming of the Lord, will certainly not precede those who have fallen asleep. For the Lord himself will come down from heaven, with a loud command, with the voice of the archangel and with the trumpet call of God, and the dead in Christ will rise first. After that, we who are still alive and are left will be caught up together with them in the clouds to meet the Lord in the air. And so we will be with the Lord forever.” (1 Thessalonians 4:13-17)

Trying to be like my big sister