Mark and Lisa Bushaway, both 48 years old and living in the UK, grieve the loss of their 21-year-old daughter Emily due to Neimann-Pick Type C, otherwise known as childhood Alzheimer's, and are devastated to learn their younger daughter Sarah also has the genetic disorder.
“With one, you think you can manage, and they’ve been sent by God for you to look after, but two? That’s simply too cruel,” Lisa says. She shares that the disease’s manifestation in her two girls has caused her to lose all faith.
The odds of having Niemann-Pick disease for the average individual is extremely rare. Only a few hundred people in the world have it. However, for two children from the same parents, the risk goes up substantially as it is a genetic disease. In this particular case, both parents were carriers and their children had a 1 out of 4 chance of having it themselves.
Unfortunately, the Bushaway family experienced childhood Alzheimer’s more than statistically typical, as there was only a 1 out of 8 chance of both children with the disease. Thankfully, however, their other child, a 26 year old son named Harry, does not have the disease.
Another family, the Stults, have also suffered the deaths of their two little boys Brisan and Parker from the disease. Their view on the tragedies, though, differs considerably from the Bushaway family. In one of their many blog posts, Mr. Stults writes in honor of his late son Parker, “It’s been 2 years since you were called home…to be reunited with the promise of eternity of no more suffering and to be with your partner in crime Brisan! With just celebrating your birthday a few weeks ago, the looming day of today is very burdensome for so many that loved you and Brisan. Me and mom have had a difficult time grieving in your physical presence being absent; this goes for Brisan as well…It was so difficult to sing ‘Jesus loves me…this I know’ while you were leaving here. You were so peaceful looking in the midst of your body giving way from all the years of devastation by NPC (Niemann-Pick Type C disease). WE LOVE YOU” (Stults).
Hospice is for people suffering from various kinds of diseases, and unfortunately it has a grim connotation with nearing the end of life. The end didn’t seem so near for Emily Bushaway, however, when her family placed her in an Oxfordshire hospice house while they renovated her bedroom. Against the odds, Niemann-Pick disease did not kill the 21-year old girl; instead her death has been blamed on lack of proper hospice care. Her nurse accidentally threw away part of her breathing tube, and Emily died shortly thereafter. Charges related to the case are being considered by the Quality Care Commission.
A Rare Childhood Disease
Unfortunately for some people childhood, a time designed to be spent playing happily and healthily under the protection of loving parents is spent driving back and forth from home to doctor’s offices and hospitals. A season of life usually reserved for the elderly, some children don’t have the typical childhood freedoms others have to romp and play, but instead suffer from a variety of terribly common diseases like cancer and hope that they will one day be healed. Childhood illness isn’t new or destined for one geographical area; in fact, it is considerably lower in the modern United States than in poorer countries or even one hundred years ago. We have uncomfortably become acquainted of its presence, but some diseases take rare forms we would not expect. One such example of a terrible, but rare, childhood disease is Niemann-Pick disease, or childhood Alzheimer’s.
Neimann Pick Type C
Childhood Alzheimer’s, the nickname for Niemann-Pick, bears many of the same symptoms of Alzheimer’s more commonly found in elderly people. Dementia and loss of coordination and motor skills are the biggest outside characteristics. Inside the body the cells lose their ability to metabolize cholesterol, resulting in damage to the liver, spleen, and brain. Muscles weaken, giving rise to motor skill complications, and problems breathing are also common. The origins of Niemann-Pick however are not the same as Alzheimer’s, which is broader in scope and population and more mysterious to researchers. Although the exact genetic biomarker is not known, scientists are aware that Niemann-Pick is a genetic disease and its symptoms are caused by the lack of an enzyme needed to process cholesterol inside the lysosomes of cells.
There is one medication called Zavesca to slow down the progress of the disease, but even so, life expectancy isn’t much past childhood. Furthermore it is actually for another illness called Gaucher’s disease, which is also due to lack of enzymes. Zavesca has not been FDA-approved in the United States for treating NPC, which means that not all insurance companies will cover it. The medication has been approved in several other countries, including Russia and the United Kingdom.
Concern for Hospice Care
In the United States, pediatric palliative care and pediatric hospice care (PPC-PHC) exist as a means to ease the physical, psychological, and spiritual suffering of diagnosed children with life-threatening or eventually fatal diseases. However, both public and private health insurance often do not cover such services, and few hospices have yet to include resources for young people. The American Academy of Pediatrics (AAP) fights for affordable access to these resources and quality care therein, “The American Academy of Pediatrics (AAP) continues to advocate for the development, adoption, and adherence to clinical policies and guidelines that promote the welfare of children living with life-threatening conditions and their families, with goals including the provision of accessible, equitable, and effective support for cure-directed, life-prolonging, and palliative care” (American Academy of Pediatrics).
Niemann-Pick disease may not be common, but childhood illness remains a threat. Every life claimed by it is a sobering reminder to adjust policies to provide the best care possible, no matter how much time is left or short a life.
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“Pediatric Palliative Care and Hospice Care Commitments, Guidelines, and Recommendations.” AAP News & Journals Gateway, American Academy of Pediatrics, 1 Nov. 2013, www.pediatrics.aappublications.org/content/132/5/966.
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FDA Denies Zavesca as Approved Drug for NPC.” Hadley Hope –Raising Awareness of Niemann-Pick Type C Disease ,www.hadleyhope.com/News.asp?NewsID=13.
Nicole Morley. “Couple Describe Painful Decline of Their Daughters to 'Childhood Alzheimer's'.” Metro, 30 Aug. 2017, www.metro.co.uk/2017/08/30/couple-describe-painful-decline-of-their-daughters-to-childhood-alzheimers-6889224/.
Stults, Mike. “2 Years Today Mr. Stinky.” Brisan and Parker Stults | Living with Niemann-Pick Type C, 23 Jan. 2017, www.bripardun.com/2017/01/2-years-today-mr-stinky/.
Stults, Mike. “What Is NPC.” Brisan and Parker Stults | Living with Niemann-Pick Type C, 2 Dec. 2010, www.bripardun.com/npc.html.