06 August 2014

Running for Julie.

Meet Julianna. 

On October 19, 2009, Julianna, a healthy and beautiful baby girl was introduced to the world. By eight weeks, Julie was diagnosed with gastroesophageal reflux disease (GERD). At six months, she was diagnosed with vesicoureteral reflux (VUR), characterized by a retrograde flow of urine from the bladder into the kidney, causing multiple urinary tract infections. The chronic UTIs Julie was experiencing led to a condition known as hydronephrosis, or inflammation of the kidneys. Simultaneous to these diagnoses, Julie was also experiencing chronic ear infections, which ultimately led to ear tube surgery at fourteen months. Before her second birthday, Julie began to experience seizures, which resulted in several hospitalizations. During these hospitalizations, Julie underwent rounds of diagnostic testing, including MRIs of her brain, endoscopies and colonoscopies. She was diagnosed with epilepsy, however, Julie's parents and medical team knew that there was a much more complicated disorder that remained undiagnosed. Shortly after her second birthday, Julie began using a nasogastric tube for feeding purposes. At two and a half, Julie was hospitalized again for more diagnostic testing, including a lumbar puncture to evaluate her cerebral spinal fluid and an electronencephalogram (EEG) to record her brain activity and monitor epileptic activity. It was at this time that Julie was also diagnosed with high functioning Autism Spectrum Disorder (ASD). One month after this diagnosis, Julie had a gastrostomy tube (G-tube) surgically placed and a muscle and skin biopsy performed.

I drafted the above "case study" for a pharmacotherapeutic analysis two years ago during my first semester of nursing school. When I submitted my case analysis there were still many unanswered questions about Julie's case. What else was causing these issues, why were there so many complications, why Julie, etc. etc. etc. Fast forward two years later after hundreds of seizures, hospitalizations, bouts of paralysis, further complications, diagnostic tests, consultations with dozens upon dozens of specialists, and Julie is finally closer to an answer. Three months ago Julie was diagnosed with Alternating Hemiplegia of Childhood (AHC), an incredibly rare and painful neurological disorder. Although doctors suspect Julie has an additional diagnosis, being diagnosed with AHC is paramount for Julie and her family. After being plagued with uncertainty for over four years, Julie and her family are finally able to embark on a new path. A path that will undoubtedly impact their lives forever, providing them with answers, information, and most of all, the support they need and deserve.

All smiles. 

I would imagine that after reading this, you may be wondering why I am sharing such a seemingly heartbreaking story, especially after taking almost (gulp) two years off from writing? Julie's story is not an appeal to pity. My words are not articulated to evoke a reflection of your own blessings or good fortune. I am writing to share the very intimate details of one child's life and the unparalleled hope and positive energy surrounding her. I am writing to celebrate and applaud the awe-inspiring strength and courage that transcends from my dear friend Karen and her husband to their sweet daughter, Julie. I want you, my dear reader, to know that underneath the very real confines of AHC, there is a resilient four year old child who fights every single day for her health. Her independence. Her life.

Could Julie be any more adorable?

Julie and her Therapy Dog, Jack.

Julie, Sleeping Beauty and Addey (Julie's awesome older sister!).

If a four year old child is capable of handling a fight of this magnitude, then surely I am capable of joining the fight. I want to raise awareness for the one in one million children diagnosed with this disorder. I want to raise awareness for the parents of undiagnosed children so that their journey may be less complicated than Julie's was. I want to raise awareness for more research to be done so that the hope for a cure for AHC can actually be realized one day. And so I will run for Julie. On September 21st, I will be running my second half marathon in Philadelphia for Miss Julianna.

When I decided to dedicate this run to Julie, I reached out to Karen (Julie's mom) who connected me with Jeff, the founder of Cure AHC and father of Matthew, who also has AHC, in a matter of minutes. Ah, the wonders of social media! Through the amazing collaboration of Karen and Jeff, I am now able to raise money for the nonprofit organization, Cure AHC (http://cureahc.org/). By running for Julie, I am not only hoping to raise money for the very organization that has steadfastly stood by Julie and her family, but also to raise your own awareness of the debilitating disorder that will continue to impact Julie throughout her life.

As I run for Julie, I also want to share the stories of Julie's journey that serve as a reminder of how celebrated life should be. For within the sadness, despair and angst of Julie's story, there are glimmers of hope, rays of inspiration and bursts of positivity that shed so much light on the beauty of humanity and life as we know it.

Me and Jules. 

And, finally, on a much lighter note, if anyone remembers the calamity that was my first half marathon (I've finally been convinced to share said calamity in my next post), you can surely (hopefully?) appreciate the stories that will most likely (obviously) come with the adventures of my second half marathon.

I invite you to explore AHC by liking/following Cure AHC on Facebook. I also invite you to my personal fundraising page. Please know that no donation is too small.

Thank you, thank you, thank you from the innermost depths of my heart.