Wednesday, May 15, 2013
May 16th, International HAE Awareness Day!!
HAE - Hereditary Angioedema. A very rare, potentially life-threatening disorder that is under recognized, often misdiagnosed, and mistreated for many of us. Today, May 16th is International HAE Awareness Day. Please help me spread the word of what this disorder is. Too many providers, nurses, and people in general just don't know what this disorder is. It affects 1 in about 50,000 people and is on the Rare Disorders List in the United States and Internationally.
Just what is HAE? HAE is a genetic defect in the 'complement cascade' of the immune system that affects the body's ability to control 'edema' (swelling). There are various 'types' though regardless of the type, we all suffer with many of the same symptoms. Some have a lack of the protein that keeps one from 'swelling'. Others have this protein that is 'broken' and yet others they just don't understand yet what causes it. That is very simply put. It is actually quite complicated.
So, why do providers and health care professionals 'miss' this diagnosis? It is very complicated to diagnose! Many times it can 'look' like something else. It can look like an 'allergic' reaction, a stomach disorder, or something else altogether. Additionally, the symptoms can vary from attack to attack. One day it could be a 'facial' swell, the next it could be an 'internal' abdominal swell with significant abdominal pain, and the next time an 'external' abdominal attack where someone looks nine months pregnant when they're not! An individual may also just get a hand or a foot swollen. For me, it took 38 years to get a proper diagnosis (and that was just about 15 months ago). I would have 'attacks' of all varying degrees from very mild to quite severe. However, my attacks are usually abdominal or facial. And there are 'triggers' that can make it worse such as 'hormones', stress, food allergies, etc. Why food allergies? They're along the complement cascade as well. Additionally, many of the 'foods' can have 'hormone' properties which are a direct trigger for it (e.g. soy).
A bigger issue now is that when a patient visits an emergency room they often are not 'believed' with what diagnosis they have. Even with a definitive diagnosis, many emergency room providers don't know how to treat, are reluctant to treat effectively, wait to treat, or don't feel it is necessary. I personally have been told by an emergency room physician "I'm not going to treat you with a $10,000 shot for something you don't have." How on EARTH could he say that to me after I WAS definitely diagnosed with this disorder and was struggling to breathe? I personally believe often times, they don't like being 'questioned' or 'told' about 'how' to treat anyone. However, this is one disorder that really isn't taught in medical school, is not taught to nurse practitioner students (I'd never heard of it until I was diagnosed) and most nurses don't know anything about it. These providers need to understand that as patients, we are very well aware of what we are living with and how to treat it! We have a wonderful organization that fully supports us and ensures we are aware of all that is available to us. We have to do something to raise awareness and get patients proper care and treatment! Without it, people can and are still dying from this disease every day. Please help me raise awareness!!
Treatment for this disease is extremely, extremely expensive. There are currently 4 'best' treatments that are injectable medications either through subcutaneous injection or intravenous infusion. One 'infusion' whether it is subcutaneous or intravenous can cost at a minimum of over $7,000!! A month's worth of medication can range from $20-36,000!! A couple of these medications are used 'preventively' and a couple are used as a 'rescue'. Many insurances do cover these medications as it is considered a life threatening disease but many insurances will fight tooth and nail to keep from approving it. These medications also weren't available in the United States until about 4 1/2 years ago. Prior to that the only medications available were metabolic steroids. However, metabolic steroids have serious adverse affects on the body and are no longer considered first line treatment. I was on steroids for a period of one month and it was horrible. I had mood swings, trouble with my liver, high, high blood pressure, and more. Not fun at all!! I now have one of the new medications and it has been a Godsend! I've only been to the emergency room once since I've started on that medication. I was dehydrated and had a severe abdominal swell that was more 'internal' and couldn't be 'seen' until much later and then I looked like I was nine months pregnant. It was agony to say the least. I was 'allowed' to use my 'rescue' medication in the emergency room while they gave me fluids and pain medication and it slowly resolved. I was still sick for a few days after but not like I use to be.
Things have drastically improved since I've been on the type of medication I now have. However, awareness still needs to be raised all over! Too many are going undiagnosed, under treated or untreated because too many just don't know about it. Please help us raise awareness for HAE!!
For more information, go to the Hereditary Angioedema Association's website! Have a great day!!