Sunday, October 31, 2010

Batten Disease

You may remember in my post about Ralph's World I mentioned a benefit concert Ralph was doing to support Jasper Against Batten. I wanted to follow up on that post by learning a little more about Batten Disease, and thought I'd share what I learned with you. Batten Disease is named for Dr. Frederick Batten who first described the juvenile form of this disease in 1903, formally known as Neuronal Ceroid Lipofuscinosis (NCL). There are actually four types of Batten Disease, differentiated primarily by the age of onset. In all cases NCL or Batten Disease has a root cause in a genetic mutation that leads to inefficient waste removal from neurons (nerve cells) in the brain. As the waste builds up the neurons begin to fail leading to seizures and progressive loss of sight, motor skills, and cognitive abilities. Eventually all forms of the disease are fatal. The earlier degeneration begins the shorter the expected life span. So in Infantile NCL which begins between ages six months to two years, the child will usually not survive beyond early childhood. Meanwhile, adult onset NCL, which is extremely rare, begins before age 40 and results in a somewhat shortened lifespan. Late Infantile Batten begins between ages 2-4 years; Juvenile Batten begins between the ages of 5-8. All forms of the disease are rare because in order to contract the disease a child must inherit two recessive genes, one from each parent. Each offspring of such a couple has a 1:4 chance of contracting the disease and a 1:2 chance of becoming a carrier (having one copy of the recessive gene).

In short, this is one of those devastating diseases that is hidden in the maze of our DNA, is not evident prenatally, is degenerative, fatal, and rare. The intersection of these characteristics results in an "orphan" disease, meaning there is little research into the cause, possible treatments or final cure. Big pharmaceutical companies, sadly but understandably, put their efforts toward diseases that have big markets: diabetes, cholesterol, cancer, and the like. That leaves smaller laboratories, usually government agencies or academic institutions to pursue evils like Batten.

The family that started Jasper Against Batten are real heroes in this fight. Their son, Jasper, has Late Infantile Batten, and aside from the energy they have put into their own personal fight, they started a foundation to raise money to support research of treatments for all forms of NCL. Their story reminds me of the Lorenzo's Oil story and again why we should advocate and that each life is sacred and powerful.

Wednesday, October 27, 2010

DVD review - Scholastic Treasury of 100 Storybook Classics

Harold and the Purple Crayon... and More Harold Stories (Scholastic Video Collection) [VHS]
In retrospect this set of DVDs was one of the best Christmas gifts we received last year. Thanks to my dear Sister-in-Law we now have hours of enjoyable classic children's literature on video. Less than two months of shopping days left, you know, so if you're looking for a good gift idea...I think the link above is the set we have, but if not it is similar enough to be equally well received.

We try not to let the children watch "a lot" of "TV". When we do it is always pre-recorded so that it comes to a definite end and there's less inclination to watch "just one more show." Now that my littles are in pre-school three days a week, we are watching even less, but it is still my go to when it's time to make dinner, or work on some project and the children are bouncing off the walls and each other. We also have a DVD player in our mini-van, and while we aren't doing much driving these days, when we do drive it is usually a 20 minute or so jaunt one way. Honestly I'd rather not break out the DVD player except for longer trips, but I have to admit that sometimes these family drives are an opportunity for adult conversation in front while the kids watch a video in the back. We also usually try to stick to "educational" shows...those that encourage some "interaction" etc, etc. Still with all of these conditions, boundaries, values and limits I feel nagging guilt sometimes that I am letting them have too much screen time.

Enter the Scholastic Treasury DVD set in our video library...and the guilt is considerably eased. Yes they are still watching "TV" but they are also being introduced to a lot of wonderful classic children's literature. Harold, as pictured above, with his magic purple crayon; Max, King of all Wild Things; George the Monkey; and Harry the Dirty Dog are just a few of the wonderful characters my children have met through these videos. Sometimes my daughter will see the book afterward at school or in the library and will be interested in reading it because she knows the story from the video. The stories are narrated and sometimes set to music. The images are often charming stills taken from the original books. The text of the story shows up in subtitles and changes color as the story is read so it encourages reading skills. They are pleasant for me to listen to. I've reacquainted myself with stories from my own childhood like "Why Mosquitoes Buzz in People's Ears." (remember that one, Chris?) We keep several of these in the rotation on the DVD player in the minivan, and the stories are a good length for a longish errand. Many of these have become favorites. My daughter is particularly enchanted with the one that has primarily dog stories on it. I believe it is part of her ammunition to weaken my stance on waiting a few more years before we add a canine to our chaos. They appeal also to my little preschoolers, so in our experience 2.5 years and up find these quite fun.

The only odd thing about these is they interfere with the digital clock on the minivan DVD player. Normally after you start playing a DVD the time counter for the show is displayed for several seconds and then the display changes to the clock. With these DVDs unless you start from the beginning menu each time (not when we had to leave the car mid-story...un uh) the clock will not display. It's not great for when we're trying to get somewhere on time and I can't tell if I need to hit the fast lane or if we're actually prompt for a change. I can always glance at my watch instead, but it is less convenient. Somehow I doubt that other people will have this same issue...and seriously if that's the most negative thing I can say about these...really? If you don't already own them go get them. Follow the link to Amazon. Really.

Sunday, October 24, 2010

Sunday Digest 24

Two trips in one month, and I'm just throwing this together from my readings in between. No theme, no particular rhyme or reason, but all good stuff. Check it out.
1) I liked this post over on Hopeful Parents from Dr. Linda Edelstein. It's about how we handle and sometimes try to avoid "information." We all know the person who doesn't want to go to the doctor because they would rather not know...perhaps that person is you. I have been that person before a few times and I must say in the end it has always been better to know. When someone first hinted to us that our daughter might have autism I fought that diagnosis in my head every day for about four months, but really once we knew we were able to start learning how to work with her more effectively. Two and a half years later I can say that I'm now glad I know.

2) This sort of relates to appropriate terminology when talking about or writing about individuals with special needs. I've had several discussions lately with people about why children with autism should not be compared with "normal" peers. One of my favorite blogs to read of late is Reports from a Resident Alien, written by a young woman with high functioning autism. Here is her take on "normalcy" as it relates to the spectrum. Bottom line we all like to categorize individuals into neat little boxes, but honestly we're all valuable regardless of which handy labels you want to put around our necks. Let's focus on that.

3) And more about the intrinsic value of life from In(courage).

4) I found this article on bullying from the IAN project via Our Journey Thru Autism. As my daughter gets older I worry more about bullying form both sides of the problem. My daughter's lack of self-regulation and her history of aggressive behaviors is a perfect set-up for being classified as a bully if people don't understand what's driving her. Her lack of social skills and odd behaviors may set her up as the target of a bully, too. I'm "reading ahead" to try to understand this large topic and will probably post some things on this soon.

5) I've heard this song by Amy Grant several times recently. It is always a good reminder to me that every moment can be worship if my heart is in tune with His Spirit as I move through my day. Even if I am a mess...He loves it when I come into His presence. Will you join me there?

Thursday, October 21, 2010

The Learning Curves

I am increasingly amazed by the good zone we seem to be in with our daughter. A few small, now easily handled tantrums at home, but great behavior at school, at church, and at various activities. Until you enter extended conversation with her, it is hard to tell there's much there beyond general quirkiness. I'm inhaling deep breaths of these good times. It has been a long time coming, and I have no doubt that there will be new challenges to face ahead, so every minute is a blessing. I think I am learning from her how to flow with my days, to accept each one as a gift and keep putting one foot in front of the other when things are challenging, trusting that eventually we'll find level ground again.

I'm navigating the world of raising younger typical siblings. With no benchmark from our oldest child it almost feels like we're parenting for the first time all over again, if that makes sense. We've entered new territory with the twins as they have entered preschool. So far they have made that adjustment well. Their big "phase" at the moment is insisting on wearing only certain clothes. We have about three outfits each that are acceptable without putting up a fuss. This keeps the washing machine busy, and meanwhile I'm encouraging some flexibility on days when I don't get the laundry quite done on time...Interestingly it seems that this stage is useful for encouraging them to pick out and put on their own clothes, because if I refuse to change them they will take off the set they don't want, go pick out new things, and put a good faith effort into putting them on by themselves. It is amazing to watch these skills different from our first time around. Would I be so philosophical about it if I hadn't survived pitched battles over much smaller issues with our eldest? Would I watch with such awe as they learn new skills with such ease? Would I even realize the importance of this phase or understand the roots of it?

Meanwhile there are other needs in the extended family that are taking precedence, and it is good to feel like our own little clan is in a good spot and has some energy to devote to others. Sandwiched, yes, crushed, no.

In all of these things there is a steep learning curve. Learning to breathe in and hold onto all that is glorious and good. Learning to let go and let others do for themselves. Learning to step in and lend a caring hand. I don't think I would be learning it with such clarity without the experiences I've gained by raising a child on the spectrum. It is a strange blessing to be taking from the Hand of Providence.

Monday, October 18, 2010

Vacation without the kids? What? I could never do that...

Sorry, skipped a post there, Friday. Busy and also fighting off some fatigue that is really cutting into my productivity. I'll try to stick to the schedule, but sometimes the rest of life will get in the way...

Never vacation without the kids? Never say never. About nine months ago a dear friend of ours presented us with a once in a lifetime opportunity to visit Bali. At first I couldn't see how we could do it. Bali is a day's plane ride away for us, which makes any trip shorter than a week kind of silly, and then it takes a day to get back. That's a nine day trip minimum. We would be traveling with a group of adults and older teens, and financially bringing the kids was not really an option. Who would stay with the kids? How would the kids react to such a long absence? So soon after our big school transition? There were plenty of reasons to hesitate, but in the end we decided it was an opportunity that we couldn't pass up. Some big pieces of the puzzle fell into place, so we checked our passports and made our reservations.

One of the biggest pieces was my wonderful parents agreeing to take on the childcare. This was no small favor to ask. An almost seven-year-old on the spectrum and twin almost three-year-olds are not a neat and tidy package to hand off to anyone; and our household really runs best when it runs on routines. Mom and Dad leaving doesn't exactly make for routine, but my parents worked hard to learn the rest of our system so they could maintain as much of the groove as possible. We will never forget their generosity.

Of all of the things we did to prepare my parents and the children for our trip, I decided to focus on three things that seemed the most important and might be helpful to others...

Caregiver manual - My mom said she referred to this frequently, so I was glad I took the time to put it together. I filled a three ring binder with useful information like:
1) How to run our audio/visual system, which is a bit tricky. I included a list of shows the kids watch that are recorded on our DVR so that it would be easier for Grandma and Grandpa to find them. Since we returned I've been referring to it myself...
2) Morning and Bedtime routines for the kids. These seem to be the most important pieces of the day, which I guess makes sense.
3) A medical release letter and a copy of our insurance card. Just in case. It was going to be very hard to get in touch with us and we didn't want to risk denial of medical care because we couldn't be reached to give our consent. I included the kids' dates of birth, id numbers, and known medical conditions in the letter.
4) Doctors, dentists, and nearby ERs were listed with phone numbers and addresses, too. Grandma actually needed this since our son developed a mild fever and she wanted to check in with the pediatrician. Happily that went away in just a day.
5) Maps of our local area, and key destinations. Since my parents do not live nearby and don't drive much when they visit us I knew they would appreciate some directions.
6) Contact info for some of our local friends who had agreed to be "on call" should something urgent come up.
7) A schedule and menu plan for each day. Grandma said she liked having menus all planned out, and sometimes I have trouble remembering what is supposed to happen each day, so having it all written out in one place was useful.
     Other miscellaneous items: business cards, coupons, directions for checking voicemail, etc. all got tucked into one place so they knew if they had a question they should check there first. One thing I should have put in there and didn't is the baby book our pediatrician gives to each child. He has compiled a lot of information there and referred my mom to one thing in there that she couldn't find, since she couldn't find the book. She figured it out, but it would have been better if she'd known where it was. We also have used this for babysitters, once, since returning from our trip. Not everything in there is pertinent, so I'll have to revise it somewhat for that purpose, but it was certainly handy to have it all put together.

Social Story - I think I've made it pretty clear how valuable I think social stories are. I have started using them with our younger children, too. They are great for children of all abilities! This story was pretty specific to our family and how this vacation away was going to work. We explained that Grandma and Grandpa were coming to visit and that Mommy and Daddy would be gone for nine days. We explained that Grandma and Grandpa would know the best ways to take care of everyone and everything. We talked about what the children could do while we were gone. We assured them that we would think of them often even if we couldn't call (which we didn't!) and we assured them that we would come back home. We read this several times before we left and left it as a resource for Grandma and Grandpa to help the children understand what was happening.

Journals and Calendars - I made some simple books - blank paper stapled between two pieces of construction paper - for each child. They decorated the covers the day before we left and there was one sheet of paper for each day that we were gone. Each evening Grandma would pass out the markers and crayons and the children would make a picture for that day in their journal. Our oldest also had some lines on her pages so she could write a sentence or two about her day. This one is especially precious to me because besides just marking the time from our departure to our arrival it also is a simple record of what was most important to her each day that we were gone. Grandma also made each child a calendar and they marked the days that we were gone with stickers.

I'm not sure who was happier upon our return, the grandparents or the children, but the really gratifying thing was that they were all happy, and we were refreshed, if jet-lagged, from our time away.

Tuesday, October 12, 2010

Using Someone with Skin On

After two weeks off I'm trying to jump back in with both feet by linking up with the blog carnival over at (in)courage. I may have missed the cutoff since I generally write so late in the day. I'd still "(in)courage" you to check them out. It is a sweet site. More on them later, probably.

Our assignment for the blog carnival is to write about someone who encourages us, specifically someone in Christian ministry. My usual post for the day is a Bible theme related to Special Needs, so let's see if I can make this all come together.

I would like to honor our most recent Pastor at the church we attend. He would die a thousand deaths if he knew I was typing this right now, so I will not mention his name, but many of you know who I'm talking about. I may not have shared as openly before how much he has encouraged me, though. Many of you are already fans, and I hope my own story will make yours that much sweeter.

This Pastor is the one who performed our wedding ceremony, instructing my husband to treat me as fine china in spite of my strong personality and personal achievements. He is the one who encouraged me to pursue every avenue of treatment when my anxiety disorder threatened our first year of marriage, medication and Biblical counseling included. He dedicated our oldest daughter to the Lord in those early days when we thought she was just a feisty and independent little so-and-so. He helped us with remodeling projects. He came over the day that my husband lost his job and brought muffins. He visited me in the hospital when I was on bed rest for six weeks while expecting our twins. He and his wife came over shortly after the twins were born and loved on them while I got dinner ready. When we first started to understand our daughter's challenges more they were there with wisdom, advice, more babysitting, and coming to IEPs. They helped us understand "the system" and what was happening with our daughter. Several months later when I was at my wit's end he sat with me on Christmas Eve, of all days, and gave me several scriptures and lots of advice, and most of all prayer. He joined me in praying that God would provide "a way out" of the anger, frustration, and outright fatigue that I was experiencing. Just a couple of weeks later God did provide the beginning of the way out. In short, at every major turning point for almost ten years now my Pastor has been Jesus with skin on to me.

You may be wondering how a Pastor would know much about IEPs and the school system. He is also the father of a young man who has Fragile X Syndrome and autism. He has allowed God to use his son's challenges to teach him, and our whole church family, so much. He has poured himself out for our church and for his family. A couple of weeks ago he gave his last sermon at our church. The demands of caring for his son have been overwhelming for years now, and he felt God leading him to move out of active ministry and care for himself and his family. I would ask you all to pray for them as they face many changes now and in the near future. Pray God's provision, and that the Church will show up for them as they have so often for others.

One of my favorite scriptures that my Pastor and his wife have both shared with me to encourage me is
Isaiah 40:11 - He tends his flock like a shepherd: He gathers the lambs in his arms and carries them close to his heart; he gently leads those that have young. (NIV)
God cares for our little ones so much. They are close to His heart. And He is gently leading us, too. Sometimes He uses someone with skin on to lead us...thanks be to God!


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