“Rock Bottom” is the story of a family who’s second born child, a son named Ashton, was born with Mucolipidosis Type II, a disease so rare and so frequently mistaken that its incidence may only be one in a million or two million births.
It is a severe rare disease, causing facial abnormalities, mental retardation, skeletal, lung and cardiac problems. Children have stiff and contracted joints and live in pain. Their vision, becomes clouded, they usually stop growing by age one, and their skin exhibits thickness and roughness.
In 2025 this condition, also known as I-, still has no treatment and no cure: it remains invariably fatal. Most do not survive their childhood.
ISMRD, The International Society for Mannosidosis and Related Diseases and the Yash Gandhi Foundation are the two patient advocacy groups working in this area. ISMRD supports families with all nine types of Glycoprotein diseases. They have an on-line support group, a data base of US doctors familiar with these diseases, a video library, newsletter and a conference which will be held this year, August 7-9th in Minneapolis. The Yash Gandhi Foundation, formed in honor of Yash, a child born with MLII, is solely concentrated on finding a cure through research, and all donations go to this purpose without salaries or overhead deducted.
“Rock Bottom: Gathering Gratitude for God in the Difficulties of Life” is the first-person account of Ashton’s Dad, and his journey to find meaning in the birth and life and death of their rare child.
Jason, and his wife find that the rocks on the bottom can be the foundation for a life of meaning and the fulfillment of the promise that God can indeed make all things work together for good.
Like so many parents of rare disease children, neither of Ashton’s parents knew they were carriers of this specific mutated allele, and as irrational as it is, felt guilty for passing on a disease-causing allele to their son. Ashton’s older brother felt “survivors’ guilt”. Why should he have been born healthy while his little brother received the unfortunate stop in the genetic wheel? The siblings of children with rare conditions are often emotionally very compassionate, and learn love, patience and acceptance growing up with a special needs sibling. At times they may feel that the needs of their rare siblings, demand and command most of the time and attention of their parents and grandparents.
You can find “Rock Bottom: Gathering Gratitude for God in the Difficulties of Life“, on Amazon.com, or by clicking here.
Medically complex children need so much care, and emergencies can develop so unexpectedly, that often one parent must give up their job to be at home fulltime. In this case, Jason was the stay-at-home parent and came to know the joy and sorrow of caring for Ashton in minute detail. Jason observed how loving, how quick to forgive, how mischievous and joyful Ashton’s life was even though it was filled too with sorrow, frustration and pain. He saw how Ashton drew others to him and from him to God and to Jesus Christ and the conviction that there is life after this earthly life. Even many years after Ashton’s death, his family continues to find the lessons that his young life taught.
MLII is not the only tough, life limiting rare disease. The Courageous Parents Network was founded by two families whose first born children learned that they had serious and life limiting conditions. Their mission is to help parents and clinicians navigate this hard journey with the knowledge that they are not alone, and that joint and inclusive decision-making, can help ease the stress and help families cope.
