Can’t Add Years to His Life, So We Will Add Life to His Years: Duchenne MD
Alpa
State: Georgia
Congressional District: GA03
Diseases
Bone / Muscle Disease, Chronic Pain, Mental Health, Neurological Disease, Rare Disease
Issues and Challenges
Alpa has encountered: Access to Expert Providers, Access to Medicine, Insurance Issues, Mental Health Access, Rare / Underserved Disease, Surprise Billing, Caregiving, Disability, Step-Therapy / Fail First, Transparency in Health Care, Underserved Community
My Story
When the Silence isn't Quiet...
My name is Alpa Khushalani and I live in Fayetteville, GA with my husband Vishal, and our three sons, Krishna(13), Eshan(10) and Vihaan(7). In 2014, at the age of six years, Krishna was diagnosed with Duchenne Muscular Dystrophy (DMD). DMD is the most common lethal genetic disorder diagnosed in childhood. Affecting 1 of every 5,000 boys, Duchenne gradually robs children of their ability to walk by their teenage years and progressively wasting muscles causes heart and lung problems leading to most patients not surviving past 20s.
I was formerly Director of Financial Services for a global IT Services firm. I currently volunteer my time with Parent Project Muscular Dystrophy (PPMD) as a local co-ordinator for Georgia and South Carolina families to support them through diagnosis and educate and advocate for therapies and care. I also serve on the PPMD team that certifies clinics to be Duchenne Care Centers. Our family participates in fundraising and advocacy events to support the cause of raising awareness and finding a cure for Duchenne in hope of saving our son and others affected by this 100% fatal disorder.
On December 10th 2007, Krishna was born with a right club foot and a hole in his heart (VSD - Ventricular Septal Defect). In a couple days after giving birth, I got Bells Palsy. Being the primary insurance policy holder for our family, I had to return to work at end of my unpaid maternity leave with a semi-paralyzed half-face and an infant at home that we didn’t know which day would need heart surgery to close the hole.
The first 18 months of motherhood were spent between Ponseti technique and bar shoes to correct the foot and in cardiologists’s offices. By about 6 years, Krishna was doing well from a cardiac and orthopedic point of view but wasn’t hitting gross motor milestones. At that time, decision was made to show him to a neurologist and thus in Aug 2014, the word “Duchenne” entered our world. It’s a parent’s worst nightmare come true when you are handed a fatal diagnosis with NO CURE. A disorder that will rob your child’s ability to walk, hug loved ones, feed oneself to eventually losing his life. At that point we decided that while we may not be able to add years to his life, we will do everything we can to add life to his years.
The journey over the last seven years with Duchenne has been a roller coaster ride. While we have seen immeasurable kindness from care providers, family, friends and strangers, we have also experienced the challenges of getting access to right providers, therapies, drugs and struggled with insurance denials, huge out of pocket expenses, fail first, inclusion/exclusion due to clinical trial criterions, non-transparency in drug development and approval process and limitations due to value based care requirements. For the last 4 years, we are participating in the placebo controlled clinical trial that requires weekly infusions in addition to muscle biopsies, port placement and many assessments for my son. We have resolved to break the silence and not be quiet and use our voice and our story to push for more research, more access and availability to improve our son’s quality of life and those of others in similar circumstances.
By human’s innate nature, everyone wants to help but they don’t necessarily know how, so sharing our story through advocacy has been a liberating experience as we see results of our efforts in moving the needle forward in getting approvals and support from the community and government.
My Motivation and Inspiration
My Inspiration is my son, Krishna and everyone that lives with, cares for or lost someone with Duchenne Muscular Dystrophy (DMD) or any other rare genetic disorder.
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