Written in July 2014:
To Whom It May Concern:
I am a mother of three young children, and all three have been diagnosed with an unknown genetic dysfunction: an autonomic neuropathy. We live in a diagnostic odyssey. We have been to six hospitals over the past three years. As of now, there is not one single doctor who can help us. We have sought help from multiple specialties: Neurology, Neuromuscular, Endocrinology, and Pulmonology. The list goes on.
They all say, “We have no idea how to treat your children. We have no idea how to treat their symptoms. Sorry.”
These are words that you never want to hear as a mother. They hurt. They hurt a lot. They actually rock your world every time a new doctor says the same thing. Some of the doctors have good bedside manners, but others show no empathy or concern. As soon as you walk out of the door, do they realize how much they just hurt you as a mother? Do they realize how hard it is to sleep at night knowing that there is no way of helping your children? Do they know how much anxiety they create in a mother’s world? I realize the doctor has very little if any control over treating or helping my children when in fact we have no answers as to the root cause. This is the reason for my letter and mission; to help us find a way to conduct whole genome sequencing. This in effect would lead us to an answer or at the very least, one step closer. I imagine that the frustrations of the unknown are deeply troubling for the physician but a mother’s plight in this is a nightmare.
At this exact moment, my children are not dying…or are they? No one knows. My oldest, Ava, almost died last year. She had a subdural hygroma, and no one helped her until I refused to leave the fourth hospital in three different states. She would have been dead within hours had I not refused to leave the ER that night. How do I stop now? How do I accept their response “unknown”? If I would have listened to all of the doctors prior to Ava’s subdural hygroma, she would be dead. How do I not continue fighting for answers for Oskar and Lucy? Oskar’s epinephrine levels are so high that doctors don’t even believe the results. All three children have ferritin levels that are the lowest doctors have ever seen in three siblings. No one knows what to do. Therefore, the children sleep. They sleep a lot. They are heat intolerant, cold intolerant and again…the list goes on. There are moments that they cannot walk. Their limbs are just too tired. Their limbs do not sweat. They do not want to eat. They are different from other healthy children. I would not say they are “interesting” or “fascinating” as many doctors have told me. I would say that they are unfortunate because their little bodies do not regulate their thermostats correctly. I would say that they are unfortunate because their nerves send pain signals throughout their bodies at any given moment. I would say that they are unfortunate because they cannot play outside in the heat or the cold without shutting down. I would say that they are unfortunate because they will not live a life outside of hospitals.
I waited until I was thirty-four years old to start having babies. I worked long and hard hours in Corporate America as well as the Entertainment World for over fifteen years. I waited to have my children so that I could provide for them. My dream was to marry Justin. My dream was to have four children. My dream was to stay home and raise my children. My dream was to have healthy children.
Well, you can’t always get what you want. Isn’t that the old saying?
Thankfully, my children are smart, kind, funny, and loving. They have wonderful family and friends. I’m calling on my family and friends again to help push our mission forward. I’m calling on anyone who will listen to me. I’m calling on every mother out there who would not want to see another child suffer. Why should a child suffer if whole genome sequencing can help find a cure or a way to help treat their symptoms? Why do families have to seek and then apply for private funding around the world to help their undiagnosed child or a child with a rare condition? Why not have it be standard policy for insurance companies to pay for whole genome sequencing? Why not figure out the coding necessary to process it? What’s holding them back? There are millions and millions of dollars across the globe to privately fund whole genome sequencing and exome sequencing. Where is the private funding to help fund the families living with undiagnosed children and children with a rare condition? Why do families have to suffer financially trying to care for their children?
There is an obvious need for sequencing of all undiagnosed children and children with a rare condition. There is an obvious need to have whole genome sequencing done on every baby born and put in his/her medical file. Let’s use some of the millions and millions of dollars from private funding to support the families financially. Help the families raise the children. Help the families pay the medical bills. Help the families financially to travel from hospital to hospital for their medical care. Help the families give their children a better life.
I’m tired of traveling with my suitcase full of medical records because there isn’t one network bridging the medical community across the globe. I’m tired of tracking down all of the thousands of pieces of paper across the country so that I can have their complete medical record. I’m tired of one doctor telling me to give the children a drug and another doctor telling me not to give the drug. I am not a doctor. I am making crucial medical decisions for my children because the medical community does not know what to do with them. This must change. Please make it change. Please help my children as well as those undiagnosed and those with a rare condition.
What is the future going to be like for these children? Will they live? Will they die? Will their parents file for bankruptcy? Will their parents file for divorce resulting from emotional and financial exhaustion? I am calling out to all doctors, hospitals, insurance companies, foundations, and non-profits! I am calling out to all media, corporate America, and churches. I’m calling out to all parents, aunts and uncles, brothers and sisters, neighbors, co-workers, grandparents and friends.
Thank you for your support, love and prayers.