As many of you know, over the years Jay-Are has had a number
of health issues. For many years we haven’t known exactly what was going on,
but clinically Jay-Are had been diagnosed with Familial Adenomatous Polyposis
(FAP). As none of his family members have had any similar issues, we had made
an assumption based on this clinical diagnosis that this was as a result of a
random genetic mutation. As a result of all of this he has had a multitude of
complications including the removal of his large intestine (colon) in 2003 and
most recently multiple bowel obstructions (3 in 2014 alone, resulting in 4
hospital stays). He has to have yearly colonoscopies and bi-yearly endoscopies
to ensure that he is not growing additional polyps, and to remove any that have
grown. It has been one heck of a ride to say the least, but it has been a part
of our lives for so long, that it just is what it is.
In preparation for one of his many procedures, I can’t for
the life of me remember which one at this point, but at one of the times, he
was required to have a chest x-ray done. On this chest x-ray it was discovered
that he had a spot on his lung. After a few additional tests to figure out what
was going on, we discovered that Jay-Are had pulmonary Arteriovenous
malformation AVM’s. At the time basically what we knew about them was that it
was, according to our doctor, safer to leave them then to fix them, and as long
as he didn’t start coughing up blood we were fine, and if he did go to the ER
(like we needed to be told to do that).
In addition to having what we have long thought was FAP and
pulmonary AVM’s, Jay-Are also over the years, by accident mind you, got
diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). He was diagnosed
with this by an Ear Nose Throat (ENT) doctor that we had visited to talk to
about his nosebleeds that he has had since he was a kid. Once we learned about
the HHT, we did a lot more research and learned that his nosebleeds, pulmonary
AVM’s and even potentially his polyps could all be linked together!
We knew when we decided to have children that there was a
50% chance that our child could have whatever it was that Jay-Are had. We
talked about it a lot and we decided that we wanted to have children, and that
if our child did have what Jay-Are had, that it would be ok, that we would make
it ok.
Recently, in April of this year, our baby girl Cayleigh
(Bug) started having some symptoms that through a series of doctors and
hospital visits lead us to discover that she has HHT, like her dad. This has
been hard, but we are doing what we said we would, and we are making it be ok.
February 2014
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