12 April 2018

Amanda's Story

My name is Amanda Gonzalez-Bunster, and I suffer from Partial Lipodystrophy Type 3. I have been struggling with this disease for many years, and my perspective on life is viewed through the colored glasses of chronic illness and disability. That being said, I’m a very positive person and always try to look at the glass as half full. Thanks to the support of my parents, my mantra is “What doesn’t kill you, makes you stronger.”  So it is very hard for me to look back and honestly admit how much I have lost as a result of this disease, and the prodigious toll it has taken on my life.

My journey begins at the age of eight when I was diagnosed with hypertriglyceridemia. At the time, I was in the top ten percent of the worst cases they had ever seen at the newly founded lipid disorders clinic for children at Colombia Presbyterian Medical Center in 1990. At that time my baseline triglycerides were 2,700 (normal being 150). At that point, I was still healthy, and doctors told me to alter my diet and exercise.

It wasn’t until I was fifteen that my health became my primary focus when I had my first pancreatitis attack. From 1997 through 2009, I was a frequent flier in the hospital suffering from pancreatitis and an AVM rupture in my right frontal lobe of my brain in 1999 that I thankfully recovered from with no deficit. When I would get a pancreatitis attack my triglycerides would soar to 10,000. I would be in the hospital NPO (no food by mouth) for a month at a time, go home on TPN (a method of feeding that bypasses the gastrointestinal tract) for two to three months, and not be able to drink water or eat any food the entire time. I refused to allow my health to take over my life despite how intrusive the experiences were. I graduated NYU in 4-1/2 years due to a pancreatitis attack that almost killed me my sophomore year of college. I started my master’s in social work and almost finished it before I had to withdraw because of my pancreatitis. In 2006, it became chronic, the frequency of my acute attacks increased, I was no longer able to digest food causing me to eat and vomit, and I began to suffer from debilitating chronic pain. I literally felt like a ticking time bomb. In 2008, I managed to get married. In 2009, at 27-years-old, I celebrated my first wedding anniversary in the hospital, it was my final pancreatitis attack. After one month in the hospital I had no choice, but to have a complete pancreatectomy and splenectomy. Life did improve after that, but not for long.

I then was elated to get pregnant and have a son in 2011, who sadly passed away when he was two days old due to complications of prematurity. I delivered him at 27-weeks’ gestation due to pre-eclampsia, which I later learned was a complication of my lipid disorder. This was the most devastating time in my life. It was a dream of mine to have a baby, and it was gone in a split second when he died in my arms. That was the first and only time in my life that I wanted to give-up the fight and die. To make the situation worse, soon after my loss, I suffered from a bleeding ulcer at the anastomosis site of my pancreatectomy. Initially, the doctors were unable to find the ulcer, resulting in multiple bleeds, and having to have 15-units of blood in the course of six months, and many hospitalizations. Then in 2013, my husband left me because he couldn’t cope with our loss or the unpredictability of my chronic illness. So in two years’ time, I lost it all —my baby, my husband, and my home. I truly felt like I had nothing because I didn’t even have my health.

By the end of 2011, my health improved a little, and I pushed myself to work. This gave me some happiness and a purpose. I had devoted a lot of blood, sweat and tears to my education and it’s another dream of mine to be able to contribute to the greater good. Unfortunately, my job options were limited and my salary was commensurate on the fact that I never finished my master’s. When you’re applying for a job your employer does not care you almost finished your MSW. Ultimately, I ended up being a program coordinator at a non-for-profit independent living center for the disabled, where I developed their youth transition program.

Working full-time was a struggle, I had to push myself every day to the brink of falling apart, but luckily because I worked in the field of disability, my executive director was empathetic to my need to sometimes work from home due to chronic fatigue, my failing immune system, low blood sugar, nausea and vomiting, or my need to visit doctors frequently. Sadly, in 2014, it all became too much. I had to resign from my job and go on disability due to repeated hospitalizations caused by multiple bowel obstructions. As a result, in 2015, I had a colonectomy due to scar tissue that had formed around my colon as a result of my pancreatectomy. At this point, I was at thirty-two, faced with the loss of another organ and another obstacle to overcome, but this time it led me to meet the doctor who was able to ultimately diagnose me with Partial Lipodystrophy Type 3. It is so rare that I am the 31st person in the world to be diagnosed with this specific gene mutation of the disease.

So after years of not truly understanding why I have a lipid disorder and all these metabolic complications, I now have an answer, and hope for a better tomorrow. As a result, of my diagnosis, my doctors fought for over a year for the FDA to grant me compassionate use of the unregulated Orphan Drug called MetraLeptin. As a result of this disease, my body is almost completely void of the hormone called Leptin, and this drug is simply a hormone replacement, which has completely improved my health. I also now have a new purpose. I will advocate for others. I still have to fight every single day to have some quality of life. My normal is not your normal, but now because of this medication it is pretty close.  I am only thirty-five-years-old, and I have less energy than average. I cannot always keep up with my peers, and it effects my social life, but my energy and overall health is much improved.

Despite, it all I still make the choice to fight. I’m still fighting for that career and I am back at school earning that master’s degree in social work even though I had to start the degree process from the beginning because my credits had expired. I still hope I will meet Mr. Right, although I know it will take a special man to be able to live and cope with my chronic illness. I still have hope that I will have a child and be the parent I have always dreamed of and almost was. I still have hope that I will wake-up one morning and feel good for a change, and be able to contribute to our world. I am not willing to give-up, and I have hope my dreams will come true.

 

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