Rare Disease Day

excerpt from
Rare Disease Day 2013

Rare Disease Day, held on the last day of February each year, seeks to raise awareness for the impact rare diseases have on the lives of patients and those who care for them. The campaign targets the general public as well as decision-makers and enjoys participation from patients and patient representatives, public authorities, policy makers, bio pharmaceutical industry representatives, researchers, health professionals and many others with an interest in rare diseases.

Rare diseases are life-threatening or chronically debilitating diseases. Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offering inadequate, and research limited. Very few cures exist. While each disease is rare, collectively they affect more than 60 million people in Europe and the US alone. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment and the benefits of research.

The European Union considers a disease as rare when it affects fewer than 1 in 2,000 citizens. Approximately 80% of rare diseases have a genetic origin. Over 6000 different rare diseases have been identified to date, affecting an estimated 30 million Europeans collectively. EURORDIS is a non-governmental patient-driven alliance of patient organizations representing 561 rare disease patient organizations in 51 countries. We are the voice of 30 million people affected by rare diseases throughout Europe.

Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008. What began as a European event quickly became international in scope, with participants from more countries joining each year. A record 63 countries and regions participated in 2012 - including participation in all of the 27 EU Member States. Rare Disease Day 2013 already has several first-time participant countries and regions on board – including Bahrain, Iceland, Israel, Palestine and Singapore. Since it began, thousands of events have been held throughout the world, reaching hundreds of thousands of people and resulting in a great deal of media coverage. The political momentum resulting from the Day has also served advocacy purposes, contributing to the advancement of EU policies on rare diseases and the creation of national plans for rare diseases in a number of EU Member States, and now in other countries.

Anatomy of HG progression

I have been having some hormonal problems recently (for which I had now-moot bloodwork done, actually) and figured I was experiencing a "monthly delay" because of those issues. I didn't really think I was pregnant, but took a test just to ease my mind. It was negative. Fast forward 10 days and I'm driving into town and notice that my bad habit of chewing the inside of my cheek is suddenly disgusting to me. Weird, I think, so while I'm at the store I pick up another test. Got home, and surprise! I'm pregnant.


And if I'm being very honest, which I will be on this blog, those two pink lines are the scariest things I've ever seen. I've done this three times, I know how it goes. It's begun already.

The test was taken Saturday February 23rd. By Monday the 25th I was experiencing nausea in the morning until around 10 and in the evening from sundown until I went to sleep. My sense of smell has also increased in sensitivity, which will amplify feelings of nausea in a week or two.

It Ain't Easy Bein' Green

Oh, no sir, no ma'am, it absolutely isn't easy being green!

Introduction

My name is Becky. I'm a 31 year old stay-at-home mom, married 10 years with three children and a Baby Bug on the way (due sometime in October). My husband John and I were both born and raised in the deep South, but are currently living about 5 hours from most of our family.

I have suffered from Hyperemesis Gravidarum during all three of my term pregnancies. I've had two miscarriages (2007 and 2010) and had no symptoms of nausea during those short pregnancies  (8 and 6 weeks).


What is Hyperemesis Gravidarum?

 Hyperemesis Gravidarum (HG) is a pregnancy illness that is thought to affect approximately 1% of the pregnant population. It is similar to morning sickness only in that is deals with nausea and vomiting. Unlike morning sickness, HG usually lasts morning, noon and night and rarely subsides until the baby is born. According to HelpHER.org:

HG is a debilitating and potentially life-threatening pregnancy disease marked by rapid weight loss, malnutrition, and dehydration due to unrelenting nausea and/or vomiting with potential adverse consequences for the mom-to-be and the newborn(s).

 HG is ugly. Uglier than I can ever describe, though I will be describing its ugliness over the next 9 months. Perhaps the ugliest side of HG, though, is doctor ignorance and apathy. As horrible and debilitating as this illness is, it's hard to convince most doctors you have an illness! With my first pregnancy it took a 30lb weight loss, not having kept food down for 4 days and not having kept water down for 2 days to finally convince my doctor that I was legitimately ill and not just "being a baby".

The Rules

I welcome comments to all of my posts, but I do have a few rules about what you may  not say or suggest.

1. You may not tell me stories of your "morning sickness" free pregnancies.

2. Please do not criticize any choices I have made about medications and treatments, especially if you have never suffered from HG. Remember: I already have three healthy children. Be gentle.

3. The whys and wherefores of morning sickness and HG are worlds apart, therefore common morning sickness 'fixes' do absolutely nothing for HG. In that spirit, please do not suggest:
     ginger anything
     lemon anything
     sea bands
     peppermints
     crackers
     anything for motion sickness
     small, frequent meals

4. This is probably the most important. PLEASE do not suggest that I "just eat" something. I'm not a tiny woman...I love food! If there was any possible way for me to "just eat" I promise I would. I just can't.