A Week of Gratitude: Day 2 – Hereditary Angioedema

 

I promise that these posts won’t all be about rare diseases, but somehow I’ve managed to roll the genetic dice and have them come up snake-eyes twice.  As I mentioned yesterday, I contracted a rare (1 in 100,000 to 1 in 1 million people per year) but, fortunately, curable form for cancer.  Several years ago, I was diagnosed with a different but also rare disease (1 in 50,000) called Hereditary Angioedema (HAE).  What’s that? I had to ask as well.  A genetic deficiency causes me to not produce a protein that is needed to keep part of my immune system in check.  A cascade of protein reactions that would normally be checked by this missing protein results in fluid leaking out of my cells into the surrounding tissue causing major swelling.  It’s like my body is trying to heal from a wound by sending fluids, but there is no wound.  My swelling occurs internally in my gut and causes three days of intense vomiting and cramping (imagine having your intestines pinched closed for a couple of days).  Others with this condition will have their throat swell closed which is life-threatening.  I seem to be the originator of HAE in my family and unfortunately, I passed it on to one of my sons.

Why am I grateful?

The doctors took six years to diagnose the disease.  When I’m not swelling, everything looks normal.  It was my hernia surgeon and a radiologist who made the discovery.  I was referred to him to check for a twisted bowel.  After looking over my charts with the radiologist he came back to me with a list of questions.  I was yes to seven of ten.  He sent me to an allergist who knows about the disease and I was given the tests to confirm the diagnosis.  It was a long process, but since being diagnosed and interacting with a lot of people with this disease I realize how lucky I had it.  Most had multiple surgeries hunting around for a solution to their swelling. I didn’t have any.

There are a lot of medicines to treat the disease.  I often marvel that anyone, as rare as it is, ever went looking for one.  I am so grateful for curious and dedicated professionals who are inspired to find solutions to so many of our challenges.

As I said yesterday, I’m grateful for a health system that encourages research and financing to make these treatments available.

My son and I have formed a unique bond as we both deal with the challenges this disease presents and we encourage each other through the difficult times.

I’m hesitant to share this last reason for gratitude because it is very personal. But I will include it because it may benefit someone else and I would be ungrateful not to share.  Before my diagnosis, I was lying on the bathroom floor late at night in agony.  I had prayed for years to be healed or to find a solution for my pain but I still didn’t know what was wrong.  In that moment I changed my prayer and told my Heavenly Father that if this was a burden He wanted me to carry then I would carry it and I asked him to please help me bear it.  Instantly the oppression of the pain eased and I could feel God’s love pour into my heart.  The pain didn’t go away, but the comfort I was feeling made it bearable.  I know that my prayer was heard and answered. Shortly after this episode, my surgeon was inspired to know what to look for and I received my diagnosis.

Day 1

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  1. Eddy Ericsson Inactive
    Eddy Ericsson
    @EddyEricsson

    So the bottom line seems to be that getting a hernia can be a good thing. Seems like you need to be celebrating a Happy Hernia Day.

    Thanks for these posts. I’m grateful you are posting them.

    • #1
  2. MarciN Member
    MarciN
    @MarciN

    How wonderful to get an answer and a treatment. I am very happy for you. It’s a wonderful feeling. :-) 

     

    • #2
  3. Alan Drake Coolidge
    Alan Drake
    @mandrake

    Eddy Ericsson (View Comment):

    So the bottom line seems to be that getting a hernia can be a good thing. Seems like you need to be celebrating a Happy Hernia Day.

    Thanks for these posts. I’m grateful you are posting them.

    I had that same thought yesterday while I was writing my post.

    • #3
  4. MiMac Thatcher
    MiMac
    @MiMac

    Be glad they updated the name -some forms of it used to be called hereditary angioneurotic edema. But nothing neurotic about it.  C1esterase inhibitor deficiency-IIRC they had a therapy in Europe (a concentrate) awhile ago but only expensive medications recently in the US.

    • #4
  5. Alan Drake Coolidge
    Alan Drake
    @mandrake

    MiMac (View Comment):

    Be glad they updated the name -some forms of it used to be called hereditary angioneurotic edema. But nothing neurotic about it. C1esterase inhibitor deficiency-IIRC they had a therapy in Europe (a concentrate) awhile ago but only expensive medications recently in the US.

    That’s what my gastrointerologist called it after I was diagnosed.  He is an older man and I was his first patient with the disease.  I wonder how much illness we attribute to neurosis that have similar physical triggers that we just haven’t discovered yet.  As I said, I’m astounded that anyone even knew where to go look to find the problem.

    • #5
  6. MiMac Thatcher
    MiMac
    @MiMac

    Alan Drake (View Comment):

    MiMac (View Comment):

    Be glad they updated the name -some forms of it used to be called hereditary angioneurotic edema. But nothing neurotic about it. C1esterase inhibitor deficiency-IIRC they had a therapy in Europe (a concentrate) awhile ago but only expensive medications recently in the US.

    That’s what my gastrointerologist called it after I was diagnosed. He is an older man and I was his first patient with the disease. I wonder how much illness we attribute to neurosis that have similar physical triggers that we just haven’t discovered yet. As I said, I’m astounded that anyone even knew where to go look to find the problem.

    Been involved with patients w/it about a half dozen times-mostly scary cases where there was a chance they would close off their airway. Never seen it manifested as primarily a bowel problem.

    • #6
  7. Alan Drake Coolidge
    Alan Drake
    @mandrake

    MiMac (View Comment):

    Alan Drake (View Comment):

    MiMac (View Comment):

    Be glad they updated the name -some forms of it used to be called hereditary angioneurotic edema. But nothing neurotic about it. C1esterase inhibitor deficiency-IIRC they had a therapy in Europe (a concentrate) awhile ago but only expensive medications recently in the US.

    That’s what my gastrointerologist called it after I was diagnosed. He is an older man and I was his first patient with the disease. I wonder how much illness we attribute to neurosis that have similar physical triggers that we just haven’t discovered yet. As I said, I’m astounded that anyone even knew where to go look to find the problem.

    Been involved with patients w/it about a half dozen times-mostly scary cases where there was a chance they would close off their airway. Never seen it manifested as primarily a bowel problem.

    Wow, now I’m curious what you do for a living.  Not too many people know about it, much less treat people with it.

    • #7
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