Jan 8, 2015

worth the risk

We got the results of Mark's genetic screen back this week just before I was scheduled for my baseline ultrasound.
The nurse called Tuesday and politely told me that we would need to cancel the cycle because Mark is a carrier of a mutation and now I will need to be tested to ensure we are not a match.
My ultrasound was scheduled for Wednesday.
She suggested I come in instead and get the blood work going for my test and we'll pick up next month.
My immediate reaction was to tear up and get sad, so I got off the phone and reviewed his results.

The disorder is called MCAD.
From the NIH:

What is MCAD deficiency?

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder first appear during adulthood. People with MCAD deficiency are at risk for serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.
Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

How common is MCAD deficiency?

In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common among individuals of northern European ancestry.

As he is a carrier, it doesn't mean he has the mutation. It's a recessive trait that could potentially be passed down to a child if I were to be a carrier as well.

I called the nurse back and we chatted about the benefits of keeping the ultrasound appointment as well. If anything were to be visible, we could use this month to try to correct it, maybe. 
But then, of course, I started thinking about the timing of everything. 
Genetic testing typically takes about a week to get the results. With Mark, it was over the Holidays, so there is a chance it added a few extra days to get his results. I asked if the doctor would be open to moving forward with this cycle still, knowing that we would have to have the results and not be a match before we pulled the trigger, literally.
In talking with the nurse, we ended up agreeing that maybe it was best to wait and go from there. But I was bummed. I was so very excited to get started with all of this and before we even had the chance, it was over.
I got home Tuesday evening and Mark and I talked about everything. I still couldn't shake the disappointment of starting a month later, knowing our three attempts would put us even later into the winter months. I resolved to take a bath and zone out. It helped immensely and we prepped for my appointment the next morning.
Wednesday morning comes far to early. I am lucky that the clinic starts their appointments at 6:30am so I can still make my train, but having a needle stuck in you at that time is kind of crazy.  As for the ultrasound, our tech was awesome. Mark tagged along and she explained everything in detail and made us feel super comfortable.
She did find three fibroids, but luckily all three of them are on the outside of my uterus and would not interfere with a pregnancy. They are all about the size of a penny. Another plus was that my egg reserve is perfect. Not too few and not too many. 
Every minute I had that cold, white non-vibrating dildo jammed in my ladyparts, the more excited I am getting (no pun intended). I start to think maybe it is worth diving into this cycle.
We leave the office at 7:11. My train typically arrives at 7:15 so again, I am disappointed I won't make my normal train and will have to wait 45 minutes for the next one. I accept that fate and we are off. On a whim, as we are headed down the road, I check the rail tracker and find that all the trains are running a few minutes late. I still have a chance to make it! 
That very moment we see the train coming down the tracks behind us. Mark guns it through a couple yellow lights and stops at the station with perfect timing for me to hop out of the car and onto the train, with seconds to spare.
This may sound really stupid, but in that moment I decided we should just go for it. Move forward with this cycle and pray that timing for our results lines up just ahead of my peak time to have the IUI. Yes, it is a gamble, a potential waste of Clomid, and more money, but I suppose I would feel worse if we just cancelled the cycle and I did get my results in a timely manner. Knowing I could have prevented that outweighs knowing a cycle could be cancelled in the middle.
I get into work and plead my case to the nurse. She speaks with the doctor and I get approval. I have Clomid and Prometrium sent to my local Walgreens and find out that the injectable (trigger shot) can be filled at Walgreens, at a high price, or I can use a specialty pharmacy, Freedom, at a far discounted rate. I will be doing the latter.
You learn so many things about this process!! 
So my regime from this point until we get the results is to start Clomid on day 5 and have a follow-up ultrasound on day 9. I will be monitored via ultrasound and with at home OPK's until I have my surge or my follicles are at an appropriate size. 
Once this happens, I give myself the shot (so not looking forward to this) and we schedule the IUI shortly after.
Oh, and my genetic screening must come back before the follicles grow to the correct size and I get my LH surge. I may or may not have already called the genetics lab to plead my case and beg them to push me to the front. Not that it will work, but a lady has to try, right?
And that's it. I can do nothing more. It's out of my hands. 
I follow the protocol and hope that timing is on my side. 
On a completely unrelated note, the Track the Tank giveaway will FINALLY commence next Monday. You'll want to get your "what motivates me" posts ready for extra points!!


  1. wowzers! That is a lot to happen all at once and you are handling it sooo well!

  2. Im so proud of you!! Good girl!! You can do it put your back into it....dont stop get it get it....

  3. I've been wondering what is all going on - glad to read the update. I'm sorry about Mark carrying that gene - bummer - but I'm convinced if you dive deep enough into everyones genetics it's quite uncommon to get prefect results. Here's hoping you aren't a carrier as well and everything moves forward greatly! Keep me posted and text anytime :)

  4. I admire you! This is so much to go thru and I know it can't be easy. I love that you are going with your gut! Happy trying!

  5. My goodness! I wish like crazy this could all be easier for you, but since it's not you're handling things great by calling and asking for what you want and need. Everything's going to fall into place.

    Sheesh, I forgot all about the tank giveaway!!! I guess I know what I'm posting about Monday! :)

  6. We were in a similar situation before our first IVF cycle. I am a carrier of CF, but luckily Joe isn't! Fingers crossed for you on your IUI!!

  7. Forgot to send you that stuff. Sorry. And I'm thinking about you guys!! good luck with it all. Everything will work out perfectly in the end.

  8. I am so sorry you guys have to jump through so many hoops to get a baby - I have a good feeling about 2015 for you guys! Hugs!!

  9. Good luck!! Wish you the best as always!!!!