This week was a scary week for us. Remember the 17 viles of blood I got taken? Well, I was working from home on a conference call with one of my clients when I saw the doctors number start to beep in on my phone. As we all know, they only call if something’s wrong…I couldn’t switch over in the middle of an important call, so I managed to make it through, slighting trembling wondering what kind of voice mail I was about to indulge in. The doctor left me a message saying they had gotten the blood results back right after I left the ultrasound the day before and I am a carrier for Gaucher’s Disease. Who in the world even knows what that is, besides nurses and doctors? I couldn’t really even hear the name correctly on the voicemail. This was the one out of 7 specific Jewish related genetic tests that I came back as a carrier for.
I called the doctor back and he explained that this disease is something in the Ashkenazi line of Jewish ancestors only…never knew I was that either. He said I probably would’ve went my whole life not knowing I even was a carrier if it wasn’t for this specific genetic testing we opted in for. Being a carrier doesn’t mean you have the disease. It just means you have the gene inside of you that can be passed down to offspring, but only if your spouse has that gene as well. My fiancé needed to go get tested ASAP since the results take a long time to come back for genetic testing. I cried, sobbed, and cried some more. Why me? I started asking my parents questions, who had never even heard of this gene either. My fiancé is half Jewish so we prayed that his blood work would come back that he is not a carrier of this gene. If only I have the gene and my fiancé doesn’t, there is no chance our baby could have the disease. If he does, there is a 25% chance our baby could have a type of the disease. After researching it, that number doesn’t sit well with me. Gaucher’s disease has to do with your spleen and enzymes – you bruise very easily, anemic, etc. and there are two types were your life is decreased dramatically.
UPDATE: We went to the doc today (1-20-14) and they said they STILL didn’t have the blood test results from the lab (almost 2 weeks later). Danny and I were furious and told them we really need to know our options to make a decision, if something was wrong. They do further testing on the baby if both parents have the gene, but I didn’t want to go that route if it wasn’t absolutely necessary. We expressed our concern to the nurse, who said she would call again down to the lab to see what the issue is. Genetic testing does take longer, but come on, 2 weeks is a bit absurd. We were talking to the doctor and she interrupted saying “I called the lab and it came back that he does not have any mutation of the gene 🙂 ”
We felt really relieved! Our baby still has a chance of being a carrier of the gene, but will not have the disease. Whew, one less obstacle checked off in our books!
How far along? 13 Weeks, 2 days
Total weight gain/loss: not sure, my scales broke in the house 😦
Maternity clothes? Nope, still in my regular clothes
Sleep: HORRRIBLE – cannot even explain how bad I sleep and how horrible my nightmares are – waking up at 7am for work never seemed so hard
Best moment this week: finding out the blood results
Miss Anything? Every kind of cheese I can’t have – brie, feta, goat cheese
Movement: I could’ve sworn when I was driving home the other day from work I felt something weird, but then I wasn’t sure lol
Food cravings: sushi x 100, I caved and got a shrimp tempura Mexican roll – I think I just wanted to taste wasabi
Anything making you queasy or sick: all raw meat is kind of grossing me out right now
Have you started to show yet: My friend finally said she could see something – not sure what lol
Gender prediction: Boy, the ring test said it was haha
Labor Signs: No
Belly Button in or out? In
Happy or Moody most of the time: I watched the movie Deep Impact downstairs by myself and literally started HYSTERICALLY crying – I couldn’t stop lol – def think I am a bit emotional
Looking forward to: Our next doctor’s appt to see if we can find out the sex!