Thursday, May 5, 2011

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.  
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1 comment:

  1. Heather SchuelerMay 6, 2011 at 2:05 PM

    Thanks for the update. Harper we pray for you daily. Thankful that you know a little more, although it does not help with the treatment, but a bit of peace of mind for the grandbabies in the future. We love you guys!

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HARPER ELLE HOWARD - Her Story

Harper Elle Howard was born April 12, 2010 and at just three weeks old, began having seizures. Over the course of 10 months, Harper traveled across the US and underwent a multitude of tests. In February 2011 she was diagnosed with a rare and in some cases life threatening genetic disorder known as CDKL5. There are currently fewer than 300 cases worldwide. Those affected suffer from intense seizures, sensory issues, gastrointestinal difficulties, visual impairment, scoliosis, along with severely delayed developmental growth. For more information on this disorder please visit www.cdkl5.com. The severity of Harper’s particular case is unknown, but we remain hopeful. She has been prescribed intense therapy and seizure control to aid in successful mental and physical development.

Hope4Harper is an organization started to aid in her care. You may choose to help Harper directly with her expenses and although not a tax-deductible, ALL monies generated are used to provide Harper care that might not otherwise be available to her. Option two is a tax deductible option through The Children’s Hospital of Boston. Hope4Harper is working with Dr. Frances Jensen and her team at The Children’s Hospital of Boston on a seizure research project seeking out the best way to stop seizures in CDKL5 affected children. Please view the CHB Project page for more details.

Your support is greatly appreciated and we ask that you keep Harper in your daily prayers, continue to follow her progress and the progress of the seizure research project, as well as, share her story. With your help there WILL be a cure!