Hope for HH

I am humbled to run the Boston Marathon in Grace Katherine Webster’s memory(12-24-03 to 12-11-11).  My goal is to increase awareness of Rare Genetic Disorders and to raise funds to support early diagnosis initiatives by the National Organization for Rare Disorders (NORD).  Training for a marathon is arduous, but nothing compared to the marathon run by Grace and her family.

My first contact with Erica Webster, mother of Grace left me with so many emotions.  And two distinct quotes:

Hope- To desire with expectation or with belief in the possibility.

A parent’s intuition: Know and believe that you are your child’s advocate and continue to press on when against the unknown- the answers are out there to be found and you will not be alone.

Pictures of Grace show a beautiful blue-eyed girl who smiles with her whole face and lights up the room.  The love and connection Grace had with her family comes through in every photo.

Grace was diagnosed with Hypothalamic Hamartoma in April of 2005.  A hypothalamic hamartoma is a benign (non-cancerous) lesion located in the brain near the hypothalamus. Due to the proximity of the lesion to the optic nerve, these growths are usually not removable by surgery. The most prominent symptom of a hypothalamic hamartoma is gelastic, or laughing, seizures. These seizures combine laughter-like vocalizations with facial contractions, flushing, increased respiration and rapid heartbeat.  A hypothalamic hamartoma can progress to other forms of epilepsy including multiple seizure patterns. Other symptoms that may develop over time include extreme rage, poor social skills and early puberty.  Grace’s disease presented with menstrual bleeding at 14 months.  The symptom led to testing that confirmed the presence of a large hypothalamic tumor.

Hypothalmic Hamartoma (HH)- induced epilepsy is resistant to typical anticonvulsants and typically patients must undergo surgical removal in hopes to stop the resulting seizures and rages.   Not only is HH rare, but existing medicinal interventions do not work and even with existing surgical options the risk is high and the percentage of success (seizure free and/or rage free) is low.   Grace underwent surgery in 2007.   She suffered from multiple surgical complications and as a result lived life after surgery with more medical conditions (diabetes insipidous, acquired Prader-Willi syndrome (uncontrollable hunger), low thyroid, etc).  While initially the surgery was considered a success after a year post-op her seizures and rages returned.  

Medication, doctor appointments, tests, surgery- things no child should ever have experience with gave Grace the opportunity to have many years and memories with her family, including the opportunity to meet her younger sister and brother.  There were periods of time that revolved around seizures, rages, depression, and despair.  But there was also the period of time between November 2010 and November 2011 in which Grace was stable on medications and a normal, silly, funny, sweet little girl who love school and being with friends.  One who loved to bead and wore her bling with pride.  The day before Grace passed she spent the day decorating the Christmas tree with her family. 

So in April I will be running with Grace, fully blinged out in her memory. 

I have not done Grace’s journey justice and would love for you to read her full story here: http://www.hopeforhh.org/featuredfamily/websterfamily-1.html