Skip to main content

A Little Too Cozy with My Genes


My business partner has a saying that he uses often in our team building and leadership activities with groups, "Trust the Process." Tracy usually shares this tidbit when the group is struggling through an activity or wondering how solving a puzzle will help the group form a more cohesive bond.

I am trying to keep this philosophy as we go through more tests to figure out what Ben's actual diagnosis may be. In my post, The Allusive Diagnosis, I mentioned that Ben's tests revealed a strange discovery - they located an abnormality on the X chromosome, one usually connected with Retts Syndrome. Last month at the geneticist's office, we learned that Ben's gene abnormality has never been seen before. I don't thing they mean, just in their office. I think they mean ever, anywhere.

This week, I was tested to see if I have the same abnormality. If I do, then "the waters are muddied," according to the doctor. It could mean that it is just an abnormality that has no significance. Or it could mean it affects him only. Hence the "muddied waters" analogy.

If I do not have this abnormality, then this finding could be significant. It could also lead to more tests.

There is an eight month wait for appointments with the pediatric geneticists in Charlotte. They saw us in one month and now we have another appointment in May. They also paid for my genetic testing because insurance denied the service. I think Ben may be an interesting case for the doctors.

I am trying to "Trust the Process", go slow and talk with Ryan through each discovery. It may lead nowhere or it could lead to something. We can stop the process at any point also. Just because a doctor suggests a test does not mean we have to follow-through with it. Weighing the benefits for Ben and our family and considering motives behind testing will come into play as we move ahead.

In any of these cases, we keep on doing what we are doing with Ben...make him work hard and love him lots.

Comments

Popular posts from this blog

Parenting an Adult Child with Disabilities

  "Parenting an Adult Child with Disabilities" is a series on eSpeciallyBen. As Ben approached 18, it was clear our role changed as parents. We needed to help Ben transition into adulthood. These stories are meant to assist other families who face, or will face, some of the same challenges. Talking About the Future Guest Post - Matt Wilson Legal Guardianship, Medicaid and SSI Researching Group Homes Questions to Ask at a Group Home Visit Referral Packet for Group Homes Getting Assistance from a Care Manager From Group Home Placement to Discharge Reaching for Independence

Make this Race Amazing

Mecklenburg County's Therapeutic Recreation's Amazing Race is Saturday, March 24, 2012. All funds raised go directly to the scholarship fund for summer camp. Summer Camp is 8 weeks long with over 150 children with special needs participating. Last year, over $6,500 was given away in scholarships. In times of budget cuts and loss of resources, Amazing Race is a creative way for the staff to raise money for the children who may need financial assistance attending camp. I will be posting photos from 2011 camp. I am only posting photos that do not show faces of the children, but you will get the idea about how much they enjoy the activities. You don't have to see their smiles, you just have to feel them. The staff have sent me their thoughts on how they feel about camp and I will be posting those as well. Most are trained as recreational therapists and have devoted their life's work to helping children and adults with special needs learn skills, make friends, de...

He Ain't Heavy, He's My Brother

After my post, Brotherly Love , I received an email from a reader who reminded me of this song. I knew the song, but had never really thought about the words and the meaning behind them. I looked it up and thought others might see the lyrics in a new light.   He Ain't Heavy, He's My Brother The road is long With many a winding turn That leads us to who knows where Who knows when But I'm strong Strong enough to carry him He ain't heavy, he's my brother. So on we go His welfare is of my concern No burden is he to bear We'll get there For I know He would not encumber me If I'm laden at all I'm laden with sadness That everyone's heart Isn't filled with the gladness Of love for one another. It's a long, long road From which there is no return While we're on the way to there Why not share And the load Doesn't weigh me down at all He ain't heavy, he's my brother. He's my brother He ain't h...