2014 - a year of lost battles

2014 was the year I lost everything. The year I have felt the happiest in my entire life- only to have that happiness taken away from me in a matter of seconds. 

I have learned to live with the pain. I have proved to myself to be stronger than I ever thought I was. 

My heart is broken and smaller; it will never be the same. I ache in places I didn't even know existed. 

The guilt will never go away. It's a feeling I've learned to manage. I don't talk about it much... I get no one understands it. Not a single day goes by that I am not reminded of the pain I inflicted on my son. It was for the best, yada yada yada. 

There's also the pain for the unknown. The pain of never knowing... Of forever wondering who they would have been.

The constant reminders of me failing at every attempt on becoming a mother (in society's eyes). If this pain I feel does not entitle me to be called mother, I don't know what will. 

But I'm still standing. I'm here to share my story and help other women back up. I am grateful to have the support of my blogger friends: your comments and emails have lifted my spirit. I have felt understood and less alone. 

I have a lot to be grateful for, though I don't feel like writing about those things. I will continue to have hope as long as my heart beats, this is the one thing I will not have taken away from me. 

Thank you, 2014. Perhaps the answer to all my questions is never asking "why". 

Counsyl Test Results

Warning- long post. Sorry!

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Im surprised they are back so soon. They only tested for the one disease I tested positive for. 

This is what the Genetic Counselor wrote today:

"Good news! The results from your husband's  counsyl test are back and they are negative. I attached a copy to this email. This means the chance for the two of you to have a baby with Rhizomelic Chondropdysplasia Punctata Type 1 is expected to be less than 1 in 2,120."

This is less than .5%

The risk of having a baby with CHARGE Syndrome is 0.00008 (some would say almost nonexistent). 

These results don't mean much to me. I'm not sure what I was expecting (I think I'm past expectations now). I don't think I'll ever be satisfied with a result.  

Three months ago today I gave birth to A. I'm in a different place now. I usually don't cry during the week, I am "OK" when being around babies, and I have seen as many pregnant women as humanly possible in these 3 months. All they are is a reminder of what I'm not, but I do not envy them anymore. 

I don't wish to be pregnant. Being pregnant right now is my biggest fear. I don't look forward to a missing period or the adrenaline rush of waiting for the blood test results. 

I'm OK now. I don't ever want to be where I was 3 months ago. I don't want to know more heartache than what I have known. I do get sad every now and then, but am not hard on myself for it. I understand and accept this as a normal part of my grieving. 

I took my last pill from this cycle's pack on December 24th. I stopped it not because I was hoping or expecting these results to be what they are, but because I have not managed to lose any weight and my acne is worse than ever. I am exercising more than I have ever had in my entire life, and have been following a diet plan for two and a half months. I was also bleeding twice a month, which is a real pain in the ass. 

I will be seeing an endocrinologist next week, though I'm pretty sure that the mini-pill has made it impossible for me to lose weight. This is the first time I'm on it. The doctors at the BWH won't prescribe the regular pill since I have migraines with aura. 

I would say I'd like to just "go with it" and if I happen to get pregnant I'll take it from there, but it's much more complicated than that. Having all these results back only mean that my two losses are not related. This means that my first loss was due to low progesterone levels. I probably needed progesterone as soon as I found out I was pregnant, not two weeks later when I got home and my doctor ordered the tests. 

My range of fears is wider now. I fear losing a pregnancy due to progesterone levels, I fear taking Clomid to ovulate on time, I fear the 1-2% risk of a baby with CHARGE, I fear the less than 1% of a baby with Rhizomelic Chondropdysplasia Punctata Type 1. I fear losing a baby due to NTD. I fear chromosomal defects. All pregnancy means is fear right now. I know nothing will help me completely overcome my fears. 

I do want a baby more than anything in the world. 

ever-present; no other words can describe you.

the one thing on my mind this christmas

"I will not keep you in the shadow of my heart. Instead, I choose to speak your name, and find you in the light of each new day."

-Pia Dorer 

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.