HOW I GOT HERE - Part 2

When I was born I had a congenital heart defect called Transposition of the Great Arteries.  I ended up in Boston because they were the only hospital doing a new surgical procedure to correct the defects.  I ended up being the first to have the surgery.  I also was one of the last.  Only two of us survived.  Luckily, after three heart surgeries at Boston Children's (and one at Cincinnati Children's that I had at a few hours old) I have had very few cardiac issues related to the Transposition since.  All because of the wonderful doctors and nurses in Boston (and at the hospital I was born at and in Cincinnati) I was able to live.  My parents also gave me life by researching and choosing Boston.  I also think God had to have played a huge part.  I can't explain it any other way.  My parents, the doctors, the nurses and God gave me a chance to live.

Now that I was having new medical issues Boston seemed like the only logical choice.

In the fall of 2006 my mom and I traveled to Boston and met with the new head of the cardiology department.  He listened to me.  He was the first doctor to truly listen to me in years.  He let me explain everything -  the passing out, the dizziness, the exhaustion, the crazy heart rate, the headaches  no longer being able to walk more than a short distance, barely being to hold my head and arms up, the crazy adrenaline rushes I was having, the constant vomiting, the overheating.  He sat there and listened to everything I had to say for a few hours.  He told us he knew what was wrong.

The next morning I went upstairs and had a stress test.  I failed miserably.  My heart rate sky rocked, my blood pressure bottomed out, and I passed out after a minute or so.  She lady running the test said she'd seen people in heart failure do better than I had just done.  Right after that, and lying down for a bit, I went back to the cardiologist.

He said the test confirmed his suspension.  I had Postural Orthostatic Tachycardia Syndrome or POTS, a form of Dysautonomia.  Dysautonomia literally means the dysfunction of the autonomic nervous system.  I had a diagnosis!  After years, I had a diagnosis!  It all started to make sense!

I was prescribed some medications, including Midodrine, and told to come back in a few days.

I'll never forget the first time I took Midodrine.  We went out to eat after the appointment to celebrate.  Yes, to celebrate!  We had an answer!  We were so relieved!  We were sitting at the Ye Olde Union Oyster House when the Midodrine started to work its magic.  My mom started to panic because of the look on my face.  She asked me what was wrong.  I replied, "the room stopped spinning."  I just sat there trying to take it all in all.  It was incredible.  It didn't entirely solve my vertigo and nausea, but I couldn't remember the last time the world was this still.  I'll never forget that. It was one of the best moments of my life.

The Midodrine, Florinef, and some beta blockers, along with increased liquids and sodium helped some.  It didn't solve my problems but I was satisfied.  I was in a much better place.

DOCTOR'S APPOINTMENTS

There are somethings you just don't want to have to discuss with your doctor. Not because it's awkward, but because the conversation may end up being a major bummer. This is one of those conversations. Today Matt and I spoke to my geneticist about having children. Were already know that there's a 50/50 chance any child we'll have will be born with Classical Ehlers Danlos Syndrome, but there are so many other questions we need answered before we decide if a "traditional" pregnancy is our best option.

Then we were thrown a curve ball. Maybe I don't even have Ehlers Danlos. Maybe it's some other hereditary connective tissue disorder.  Wait, what?

Then there's that chance that I could pass on Transposition of the Great Arteries, the heart defect I was born with. I knew there was the possibly the TGA was genetic.  My parents met a family whose identical twins were each born with it.  But they've apparently found three gene mutations that can cause it.  Lovely.

Three vials of my blood were drawn and and being sent to California to be tested for 11 defects including, Marfan Syndrome, Stickler Syndrome, Loeys-Dietz Syndrome, and the Vascular form of EDS.  There is also a gene mutation known to contribute to aortic dilation that my blood will be tested for.  In 6-8 weeks (or probably longer, since my insurance company is a giant pain in the ass) I will know if anything's been found.  If there are no red flags I'll be tested again for the three known defects that may cause TGA.

Dr. Fancomano said she'd bet there was a 50/50 shot that they'll find something in the first batch of tests.

Honesty, I'm frustrated.  Thousands of babies are born everyday with no issues.  Hell, I read the other day that a 10 year old in Columbia gave birth.  Tons of people who aren't fit to be parents have kids. Yet, Matt and I may not be able to have a healthy child someday.

Yes, adoption is an option, and were not ruling that out, but I want to be pregnant with a baby that has my eyes and Matt's nose.  I'm not even sure that I could emotionally handle raising a child I didn't give birth to.  A few weeks ago Matt's friend, who Grandma's cat is my cat's birth mom, said his Grandma would love to get her cat and our cat back together to see if he remembers his mom.  Without thinking I was like, "she's not his mom!  I'm his mom!"  If that's how I am with my cat child, how would I be with my child-child?  I actually refer to the cat that gave birth to my cat as his "birth mom."  I have jealously issues.

But, I guess there's no need to worry until we know what we're dealing with.  Just 6-8 weeks.