My HSAN1 Story

My name is Ifeng Hsiao, I’m a Taiwanese, born and raised in Taiwan. As a toddler, I was as healthy as other kids. One day when I was 5, my mother discovered something wrong with me while she was bathing me. I stepped into a bucket filled with bathing water, as soon as I sat down, I screamed and jumped out of the water “it is too hot, mom!” “but your feet were in the water first before you sit down, how come you didn’t feel it then?” I did not know how to explain it.

My mother soon took me to see pediatricians, but no one knew what’s wrong with me. “your daughter is fine!” said most of doctors. “She is just a little skinny, feed her more milk!” Another said.

I started to have club feet and my calves looked thin when I was in 4th grade. My mother took me to hospital after hospital looking for answers. After I went through the prescribed lab tests, NCV, EMG, and nerve biopsy, a pediatric neurologist in National Taiwan University Hospital said that I have CMT. He recommended my parents take me to other countries where more medical resources are available.

My parents took me to Japan when I was age 10. We visited two very well-known hospitals in Tokyo. After repeating many tests plus the muscle biopsy, both hospitals gave the same diagnosis of CMT. Braces were made for the first time in my life to support my ankles. Very soon, I started to develop ulcers on my ankles because club feet cause uneven pressure when I walk. The next year I had two surgeries on my ankle, tendon transfer and bones shaved to fix the problem. The ulcer issue was finally gone and I was able to walk again without bleeding, with braces, of course.

Symptoms on my hands started to progress at the beginning of my teenage years. The tap water no longer felt as cold as before, and my fingers no longer have enough strength to use clippers or staplers. I got bilateral cataracts when I was 17, severe enough to have them removed at age 22. Around the same time, I noticed I couldn’t stand up from a squat down position. I realized muscle atrophy and weakness were coming to my lower thighs.

I immigrated to United States right before I turned 20. Entering a school to study English, my fingers were too weak to hold a chalk to write on the blackboard in class. I also had difficulty turning my dorm room key. My fingers got injured as I tried to button up my jeans with all my body strength. Ulcers on my left foot happened again as I walked across campus every day. My feet bled for more than a year. My parents then decided to let me have ankle surgery again, in the United States.

My symptoms seemed stable for a while. I finished college and started to work. Now with health insurance, I visited UCLA neurology. I was prescribed OT, PT, and a new pair of braces. PT helped me a lot. Within a few sessions, my thigh muscles become stronger and my balance much improved. I was excited and thought that I would keep improving if I did the exercises every day. Unfortunately, by 2012, when I visited UCLA neurology the 2nd time, I was having difficulty walking. “If you want to find the cure, you need to find the cause first!” said my UCLA neurologist. Several lab tests and NCV were prescribed to eliminate some of the possible diseases. Two years later, in 2014, a genetic test was done at UCLA. 500 plus genes associated with my symptoms were screened. Unexpectedly, not only one but 3 genes were caught, but none of my loci of these three genes were ever proven or documented to cause disease. I was told that only one is the culprit gene, but which ONE is it?

I sent the genetic test report to a neurologist in Taiwan who has my parents’ blood samples and asked him to compare them. He discovered that I inherited the first two genes from my parents and only the third one is my own mutation. My parents are normal. “So it is the third one.” I was told. But, can we be so sure that this SPTLC1 is the real culprit gene just by ruling out the other two? What if it is not and the real one is still out there at large? I was concerned.

In 2016 my plasma was sent to Switzerland for testing for deoxysphingolipids, the biomarker of HSAN1. The result was that I have super high amounts of these neurotoxic lipids. In order to confirm this toxic lipid is indeed from my SPTLC1 gene mutation, a cell study was done that finally confirmed that gene as the cause behind my afflictions all these years.

This disease not only affects the muscles and the sensations on my limbs, but also my heart beat intestinal motility, and physical energy. My airway cannot open as quickly as before after I have several coughs and I have a strange burning sensation from my lower back down my legs in a very weird “every other day” pattern. Temperature on both my feet are like riding roller coasters every day, either flaming hot or ice cold. All these symptoms showed up one after another in recent years.

I am taking serine now with a very low dose, only 1.65g a day, which helps maintain strength in my arms, improves constipation, and helps my brain stay awake and focused. A higher dose would cause intestinal discomfort and also brings too much energy to my brain which feels like a huge light shining on the back of my head. I visited MGH last year, and it was suggested to increase the dosage gradually over time in hope that my body can adapt to it. I have been trying to do that.

I’m in a wheel chair now and have lost the ability to hand write. This disease totally changed the course of my life and turned my life upside down. However, I thank God for being with me on this journey, giving me strength and the opportunity to come overseas to seek medical attention leading to the right diagnosis and maintenance of my health at the optimum level. I am also thankful to my doctors, scientists, and the Deater family; without their help and effort, my condition could be a lot worse.

Despite all of these adversities, I do not want to give up. Life is a miracle, worth living and living well. Knowing HSAN1 is a super rare disease, I hope more patients can be identified so that we can support and encourage each other and that may eventually lead to more research. The Deater Foundation did a lot in this, and I hope I can do my part. Recently I got hold of CMT China, sharing my story in their community, hoping to increase their awareness about this SPTLC1 gene which may cause symptoms of CMT and perhaps find patient in their group. I also made a Mandarin website on HSAN1 in hopes of finding patients speaking that language. There are more than 1.3 billion people who speak Mandarin Chinese. I really hope that by providing disease information and hopefully some low to non-cost genetic testing service, more people with similar conditions can get diagnosed.

I do not want to give up. Life is a gift, and I cherish it. This disease may damage my nerves and muscles, but it trains me to be resilient and persevering in character. Looking at the mission on the Deater Foundation website: “Dedicated to finding a cause and cure for HSAN1”, I think the word “Deater” has a deeper meaning now.