Better understanding of rare diseases.
Alpha 1 Antitrypsin deficiency is a rare disease causing numerous physical problems science cannot even detect. So little research is being done medical science has a limited idea of what this condition can actually cause. For example my son has Alpha 1 and during a routine chest xray they found he has a collapsed trachea and needs significant surgery to correct this. He also has some vascular problems that should not be seen in a 39 year old. MDs say these coincidental problems are not caused by Alpha 1 but do they really know without the research to fully comprehend this disease. Of course I understand not much money is thrown at rare medical conditions across the board, but when the rare disease affects your family the rarity of the disease quickly dissipates. So whats the answer? I don't know but I do see much money given by the federal government to other countries, support issues not really concerning the American people (ie: giving $150,000 to the Dali Lamma or $31 million to South Korea). Money needs to be funneled to American needs like research to help understand some of these rare syndromes. Unfortunately, governments everywhere do not appear to think like I do and maybe for reasons unknown to me. Whatever the case is, I already lost my daughter to Alpha 1 I don't want to lose my son too.
Ken Stanek PhD
The undiagnosed network finally found my issues! Apparently they found THREE genes causing issues which is extremely rare! I have Alpha 1 antitrypsin deficiency ZZ type , along with COL4A1 issueb(kinda like Ehlers Danlos Vascular type) vasculopathy, and BARD1 gene .
Anyone else have any of this? #RareDisease #pulmonaryhemosiderosis #EhlersDanlosSyndrome
#Alpha1AntitrypsinDeficiency #Gastroparesis #tiredoffighting
Anyone here had alpha 1 antitrypsin defieincy with panniculitus?
"K#illing me softly"
Sarcasm, and "a dark sense of humor", is a great way to confuse others when you don't want to tell them how you feel inside!
However, there's nothing soft about choking to death!
When some strange substance in your lungs (and lack of substance at the same time) makes every movement exhausting, and the lack of oxygen eats away on your memory, concentration and ability to remember your words as you speak them....
You know you ARE going to die, and that the death will most likely be a painful one, because you also suffer from claustrophobia and fear of not getting enough air - and what you want the most is to just go to sleep and never wake up again! Pass on with dignity!
Had it been the big C - cancer - you know you will get enough pain medication to not care if it's dignified or not, but nooo - you're not that "lucky"!
So, what's the option? Had I been 10 - 15 yers younger, I'd most likely be put on the transplant list for new lungs, but I'm too old now - both to get on the list in time, and to enjoy a new pair of lungs should you be lucky enough to get a pair. So - the question remains the same - what's the option? What can I do?
I really want to die, to go on, but with this blasted COVID I can't even say goodbye to my children, because they live on a different continent!
So the real question is - can I tolerate life until this blasted pandemic is over, and they can come visiting?
Fact is - I don't know! I REALLY din't know, and it tears me up inside!!
What kind of illness is it, you wonder? It's an inherited form of COPD called Alpha1 Antitrypsin Deficiency, the lung-affected variety! (There is one that affects the liver as well - or both!)
It started as Chronic Bronchitis when I was in my mid 20's, then some 25+ years later I developed Emphysema!
I was also infected with an overgrowth of a fungus in my lungs that colonized (called Pseudomonas Aeriguosa), and the"grapes" in my Bronchies, called Alveolaes "popped" and made air pockets - BIG air pockets!
So now my lungs consists of Emphysema, colonized fungus and "air pockets" that prevent the blood to transport oxygen around in my body, and not least to the brain!
I've come to the conclusion that the most important organ in our body is the lungs! NPTHING in your body will work if it doesn't get oxygen! Your heart won't have anything to work with, the brain won't function, and then the rest will shut down as well.
I promise you - it's not a nice way to go!
I'm a patient person, but I don't think I'm THAT patient - simply because I have no fear of death!
- Oh - I forgot to mention.... unfortunately there's apparently no medicine that could ease and prolong my life AND give me a better quality of life dispensed in my country!
You see - we're not many enough with this condition to validate the expense of the medicine that actually is out there, so our doctors have decided "there is not enough evidence that it works", so they won't use it!
So the bottom line isn't how, really - but when?!
Afraid to Ask with Alpha-1 Antitrypsin Deficiency
My mom has Alpha-1 antitrypsin deficiency and I’m a carrier. Alpha-1 antitrypsin deficiency occurs when the liver is unable to release an adequate amount of alpha-1 antitrypsin protein. It can cause shortness of breath, a large decrease in lung function in a short amount of time, chronic respiratory infections, as well as other symptoms. The only treatment specific to the alpha-1 antitrypsin protein is augmentation therapy. This will not increase the protein, but it will keep your levels around the same amount they are at when you start treatment.
When my mom was diagnosed in 2009, we didn’t know anything about this chronic illness. She was her pulmonologist’s first patient so he did research after she was diagnosed. Honestly, we didn’t know what to ask or how she would be affected.
Questions we could have asked would be: How would her quality of life be affected? Are there other treatments she could try? Are people with alpha-1 more likely to be hospitalized? Why isn’t this a test doctors perform on babies when they are born so they can start treatment and lifestyle changes as soon as possible?