CHARGE results are back

Neither of us were found to carry the same mutation. This means that most likely it was a new mutation that happened sporadically in the last pregnancy. Therefore, the hospital does not expect the same complications again.

 

However, they would say the risk for CHARGE again is about 1-2%. The reason for this is sometimes egg cells or sperm cells carry mutations that are not present in the blood cells. This is called germline mosaicism. They would recommend genetic counseling in a future pregnancy to discuss our options. They absolutely recommend ultrasound monitoring and we could consider amniocentesis or CVS again if we wanted to do additional testing for the 1-2% chance.

Now we are just waiting on the genetic screening on my husband. The lab received the sample today, so it'll be 3-4 weeks before we have these results. 

Being negative for CHARGE should be a relief. It isn't. It's just another proof of my "bad luck". It's a difficult position. Today I was down to my knees and thankful we're both negative for CHARGE. But some days I wish something comes back positive for either of us so we can fix it... Getting pregnant only to find out that my bad luck continues is something I wouldn't want to go through again. 

yet another sunday on wonder lane...

today.... and every Sunday for the rest of my life.... all I will ever do is wonder...

expanded carrier screening

I have the results back from the expanded carrier screening. I was screened for 84 conditions. Most of these conditions are recessive, which means that both my husband and I would have to be carriers for there to be increased risk to a future pregnancy. It shows that I am a carrier for one condition called "Rhizomelic Chondrodysplasia Punctata Type 1." Me being a carrier for this condition has NO impact on my own personal health. The next step would be to screen my husband. If he is a carrier for this condition as well, then there is a 25% chance a child would be affected. If he is not found to be a carrier, risk for an affected child is drastically reduced. Even now, without knowing whether or not he is a carrier too, there is a 1 in 630 chance to have an affected child. This is less than 1%. If we are both carriers we can discuss testing that can be done on embryos before implantation, or could consider CVS or amniocentesis for testing during pregnancy.

Babies who have Rhizomelic Chondrodysplasia Punctata Type 1 are small and have bone problems, intellectual disability, and eye problems. Most will pass away in childhood.

Oh, this is completely unrelated to CHARGE Syndrome. 

workout setting

Not too bad a view when working out. 

not that I'm superstitious...

But every time I get in my car to leave the gym, it crosses by...

christmas photoshoot

It's really really difficult to get my whole family in a picture (and it's only seven of us). So I started the tradition last year of having our picture taken on Christmas (mostly because of my two-year old brother). We all get matching bow ties and get together for a shoot. This year, the bow ties were black and white in memory of our babies. 

My dad is very irresponsible and got there once half of us had headed out (but that's a whole other subject), and my husband had to leave early because of work. 

Here are some bad quality pictures. I promise to put the HQ ones up once I have them. 

Before leaving the studio, I saw this on the wall. Felt like sharing...

a shooting star

While beginning to warm up for my workout, I saw a shooting star today. I don't think there's a better way to start the day. 

Thank you, my A. You've brightened up my day. 

I tried to post this last Wednesday as my "wordless Wednesday" and it wouldn't upload. Here it is. 

You're ever-present, and for that I'm grateful.