Genetics: Why Care?

(this blog post originally written as a guest for http://www.bentonparenting.com/2012/04/geneticswhy-cares.html)

I recently saw a post on Facebook that decried the amount of money spent on genetics research in autism. Across a picture of NIMH director Tom Insel's picture are the words "Admits that >80% of autism causes are environmental…wastes 700 million taxpayer dollars on genetic research" Was that money wasted?

As the mother of three children with autism with a known genetic cause I say NO the money wasn't wasted. "Of course", you say, "your children have a genetic syndrome (in our case, Fragile X) that is a known cause of autism…you wouldn't think it was wasted money." But hang in with me for a few more minutes and maybe you'll see why you should be happy there is money being spent on genetic research, even if your child's autism is not of genetic origin.

There is a medication that may well be a significant breakthrough in autism treatment  that was only conceived through the biochemical knowledge of Fragile X Syndrome. Your child may not have Fragile X but they may well benefit from the treatments aimed at FX simply due to the fact that researchers know some of the "whys" of FX. This is proven science.

Google "autism genetics" and "autism Randi Hagerman" and see what you find. There is significant reason to believe that as a direct result of the knowledge of the genetic underpinnings of a subset of cases of autism there will be some effective treatments -- possibly for all children with autism  -- soon.

Should we discount the fact that most cases of autism don't have a known genetic component? Certainly not! We have to look at all the pieces of the puzzle and not fixate on any one to the exclusion of the others.

The case for the study of the genetic causes of disorders primarily of "unknown cause" is not limited to autism. A good example is ALS (Amyotrophic Lateral Sclerosis/Lou Gehrig's Disease)…90 percent of ALS cases have no family history of ALS. Of the 10% that runs in families, only a fraction are attributable to a known genetic defect. Still, that known defect is being studied and an understanding of what goes haywire in that gene is leading to some promising research that could benefit everyone with ALS.

In both ALS and autism, there is likely an environmental insult that "trips the trigger" in a nervous system that is vulnerable.  Chances are that things like autism and ALS are just the tip of the iceberg in terms of the damage being done by well-intentioned (at least at the outset) "advances" in modern society. By all means, keep looking to decrease the toxic load in your child…and in yourselves…but don't be so fixated on environmental causes that other useful research suffers.

Here's a recent article that emphasizes the connection between genetics (Fragile X, specifically) and autism: A striking link is found between the Fragile-X gene and mutations that cause autism.

For a taste of what it feels like, substitute "autism" for "Fragile X" in this article and see how it makes you feel: http://www.disabilityscoop.com/2012/04/12/symptoms-fragile-x-reversible/15384/. There is some small glimmer of hope!

Fighting Fear

Peace I leave with you; my peace I give you. I do not give to you as the world gives. Do not let your hearts be troubled and do not be afraid. ~ John 14:27

I've been struggling with fear. Not fear like you have when there's a gun pointed in your face, but that chronic, nagging, anxiety-producing fear that hangs over you like a fog. You can't really see where it begins or where it ends but it obscures your vision and you feel it to your bones. For me, I fear for the future. There isn't enough money to keep the house maintained...we need "extras" like clothes or shoes, gas for the emergency generator...Then there's the fear of my changing health and how that will impact us. What will life be like when I can't move my hands or feet? Will I mentally implode? The vision in my head is of being buried alive....confined to a small space where I can't move and can barely breathe, yet fully alert and aware. Yep. Fear. I feel it.

Jesus said that He leaves us peace. Sometimes I feel it....sometimes I let the fear get a grip and the peace leaves. I just opened an email devotional. I hope that some of the excerpt below inspires you (like it did me) to keep fighting your fear by clinging to God's promises:

"Your confidence in the God of peace declares that you are not falling for the lies of the devil. You see the first step toward having spiritual authority over the adversary is having peace in spite of our circumstances. When Jesus confronted the devil, he did not confront satan with His emotions or in fear. Knowing that the devil was a liar, He simply refused to be influenced by any voice other than God's. His peace overwhelmed satan; His authority then shattered the lie, which sent demons fleeing.

There is a place of walking with God where you simply fear no evil. David faced a lion, a bear, and a giant. In this Psalm he stood in the "shadow of death" itself, yet he "feared no evil." David's trust was in the Lord. He said, "...for Thou art with me." Because God is with you, every adversity you face will unfold in victory as you maintain your faith in God! David continued, "You prepare a table before me in the presence of my enemies" (Ps. 23:5a). The battle you are in will soon become a meal for you, an experience that will nourish and build you up spiritually. Only God's peace will quell your fleshly reactions in battle. The source of God's peace is God Himself. If fear has been knocking at your door, begin to face that fear with God's peace. It is God's secret weapon to destroy fear." (excerpt from Peace-A Weapon Against Satan, TGIF Today God Is First Volume 1, by Os Hillman)

Blessings,

Claudia

OK, so here's the deal...Valentine's Day is a beautiful time to show those you love how much they mean to you, but we all know it isn't about "love"...it is about "romance"...and that's fine, too. I am elated for those of you who have significant-others who gush over you (and, let's be frank...the holiday isn't about men -- it is FOR men to show WOMEN their romantic side -- something they often aren't good at without Madison Avenue showing them how). But do we have to publicize it? I really don't need to see pictures of the dozens of roses, the jewelry, the sweet card, the lingerie...Those are for YOU. Celebrate that. Enjoy that. But remember that this day is bittersweet for some. Maybe they lost their spouse this year and this is the first Valentine's Day alone. Maybe their marriage ended this year. Maybe, like me, they're single in a "couple's world".

Before you accuse me of having a pity-party....

I love my FB friends (Ilona Maine, Leanna Upperman-Ennis, Suzanne Balvanz) who've posted scripture about how much God loves us, or how God sees love (1 Corinthians 13), or even just how we can show love by kindness, thoughtfulness, selflessness, forgiveness throughout the year. Thankfully, tomorrow is the-day-after-February-14th and we can start another year of living out what it means to really have love for each other.

Love is what Amy did over the past 36 hours...seemingly 1000 loads of laundry with puke in them, staying up with a child who is causing a load of dirty laundry every 45 minutes for 14 hours straight... and doing it with a sense of humor. That's LOVE. Thank you, Amy, for loving Christopher as much as any mother would. You are, in every way that counts, a mother to him.

Happy Valentine's Day!