Great Questions....No Answers at this time...

Today it was confirmed I do not have a CDKL5 gene mutation.  Therefore, Harper's genetic disorder came from a random mutation either within the egg or occurred in utero as she developed.  Good news from this, we do not have to worry about Lily’s future children having this disorder. 

Harper’s insertion is at the location of exon 15.  There are 23 exons within the CDKL5 gene.  In theory, the further down the line the mutation the less sever the outcome because more of the protein was able to be made.  The exact function the CDKL5 gene serves is not yet known.  Nor is there the possibility of any cure in the near future for this disorder.  Thank you, please return to our office in six months and pay another fee for the exact same update!  

Actually, after a realistic discussion today with our Genetics counselor in Boston, in addition to her current Neurologist and Pediatrician, we really only need to stay in contact with Harper's doctors at Children's Hospital in Boston and Texas Children's Hospital in Houston yearly, as those are big research centers.

All we can do for her at the moment is pray, get Harper as much productive therapy as possible and be very aggressive in our attempts to stop her seizures from occurring through trial and error of various drug combinations.  

Hope and Hopelessness

Yesterday we traveled to Fort Worth to see Dr Kukolich, a Geneticist with Cook Children's hospital.  She has three other CDKL5 patients that are boys, which is very rare.   The visit didn't tell us anything new and profound.  Doctor's do not know what function the CDKL5 gene serves for our bodies.  We will know more about what Harper's future might look like in the next two crucial years of development.  Seizure control and intense therapy will be key for her.  Dr Kukolich said we are shooting for Harper to be an interactive member of society and the reality of her being able to function independently is extremely low.  But you know Doctors also said, my youngest sister, Briana's  outcome did not look promising 15 years ago and she's the family "Super Star" ;) graduating this June and heading to Arkansas, "Go Hogs!"

As long as there is GOD, there is ALWAYS HOPE!

What a year it's been!

A year ago today
  our journey began!

May 2, 2010 God revealed a new purpose for our lives through Harper's first visit to the ER for unexplained seizures.  

Please consider donating your unwanted items to our May 21st Garage Sale!  Contact me at Hope4Harper@yahoo.com to make delivery/pick up arrangements. 

Thank You Friends, Family and Neighbors!

"If only you could sense how important you are to the lives of those you meet; how important you can be to people you may never even dream of. There is something of yourself that you leave at every meeting with another person."



Because of YOU...we gained two and half more lessons for Harper!  Thanks Everyone!  
WHAT AN AWESOME DAY!! 


UPDATE:
Harper's rash is clearing up nicely.  The antibiotics seemed to have worked.  We should be good to go in a few more days!  We met with a dietitian from Children's Medical City on Friday and will be starting the Soy based formula Ketogentic diet sometime in May.  Our hope is that this in combination with her current medication will help stop her seizures.  She is currently having about three a day.