A Mixed Bag

This weekend has been absolutely beautiful! This is what living in California must be like…
*sigh*
Anyway, Friday I took a half day from work so Barry and I could go to all our doctor’s visits in Houston.
It made for a long afternoon/evening, but it was worth it.

First we met with a genetic counselor who was incredibly helpful. She had already taken the time to speak with my OB and MFM, gather our file together and create a packet of resources for us. She was very professional, honest, politically correct and frank with us. I appreciated her honesty but it was a bit difficult to swallow. At least she didn’t list all the medical conditions attributed to Ds.

The first thing she wanted to cover was our risk factor for having another child with Ds. To do this, she quickly squashed all hope of our amnio being inaccurate. Delicately, of course…and I appreciated it. I need to stop thinking that just because Eli looks fine on the ultrasounds that he won’t have Ds. He looks fine because he is fine.
She then informed me that I would obviously have an increased risk for having another child with Ds but that it was very small (less that 1%). This risk increases with age…it’s basically 4.7 multiplied by my age).
Ok, I can handle that risk.
Next she went over our family history, which she said looked great.
Even commented that it looked typical for a family tree- including our son with his seemingly random diagnosis (compared to the rest of the family history).
She then showed us Eli’s actual karyotype and confirmed that he has Nondisjunction T21 (not mosaic or translocation). That was the first time anyone had shown us the results.

Pretty neat! Those are my son’s chromosomes!

Finally, she gave us some resources, books and websites to get into contact with. Of course she suggested the Down Syndrome Association of Houston, and even felt that going to a Ds clinic would be a wise choice. Apparently it’s one stop shopping for doctors and they have the latest and greatest resources/information. The counselor was very supportive and encouraging. She made me blush when she bragged on how awesome she thought we were- getting prepared and educated. She basically said that based on what she was seeing, our son is going to have high expectations, all the resources that are possible and a great upbringing. 🙂 We were beaming with pride, of course!!

While at her office, we ran by my MFM doctor’s office. At my 20 week ultrasound, my doctor had a hard time seeing Eli’s heart. He set up an appointment for 5 weeks later to get a better look. In between that time, we had the amnio, diagnosis and fetal echo. I wanted to make sure we were supposed to keep the appointment, since his heart has already been the focus of many ultrasounds.
The lady at the appointment desk was very rude and pointedly asked me if we intended to keep our pregnancy in front of other people. Seriously? I am asking about an appointment that is in 2 weeks from now…and I am clearly pretty darn pregnant! Oh, you better believe I got a little angry. -_-

So after talking (more like yelling) to her supervisor and confirming that I did need to keep the appointment, we drove off to see Dr. H. He was in a good mood. 🙂 Very excited and very supportive. We went over all our options for Baby Newman #2 and I felt overwhelmed.

IVF cycle #1 due to severe male factor sperm morphology issues- 3 day transfer of 2 embryos. Remaining 5 embryos didn’t make it to day 5.

Options:
~~Try naturally on our own (10-15% chance of success normally…not including our morphology issues…could be frustrating and pointless)
~~IUI with sperm donor (10-15% chance of success after several cycles, significantly less money but still pricey)
~~IVF #2 with more aggressive stimulation to produce more eggs and *try* to use PGD for testing (with our own embryos, we could risk damaging a perfectly healthy embryo OR wind up with nothing since our embryos did not make it to day 5 last time. This is a huge financial investment and carries a potential risk of loss…that or we do IVF just as before with no testing and hope everything turns out fine the second time around).
~~Embryo adoption/donation (may not have the ability to use PGD if the embryos were frozen after day 3, also requires lawyers and homestudy).

Dr. H agreed that we could start right away, with obvious time for healing after birth.
Barry and I both agree that genetic material does not make you a parent, but that going through the process of carrying a pregnancy is important to us. So that being said, part of me does want to see what if the two of us can make another baby that is our own. This is risky because of the financial burden and possibility to wind up with nothing. We could opt out of PGD testing and hope that if the cycle is successful that there are no abnormalities…or test using MaterniT21 again at 10 weeks just to be sure.
ugh…I don’t know. Dr. H felt that another IVF cycle was definitely risky but that he would take all our history into account.
Dr. C thinks that IVF with our genetic material is definitely a viable option.
I still don’t know. Barry hasn’t given it much thought.
I guess it’s a good thing we have lots of time to decide! lol I just wanted to begin preparing financially…whether that means adoption, or another full IVF cycle.

It felt good to write all that down!!

After ALL that, we went to dinner with my family. While at dinner, Barry spotted a young man with Ds. I walked right over to the table and started chatting with his mom! That was so hard because I was nervous- what if I assumed wrongly that he had Ds? What if she didn’t like strangers talking to her about her son? Was it rude to talk about Ds in front of him?
None of it mattered as soon as I told her our son was coming to us with Ds. She lit up, immediately exchanged information with me and shared a bit about her son! It was nice to meet another family in the area face-to-face, but it was daunting at the same time.
Suddenly all my fears came back and I left there with a heavy heart.

What a day Friday was!

Ok, so then Saturday came and I forgot all about those silly worries! The day was so beautiful!

We ran errands and did stuff around the house. I walked around the stores without a care in the world and then suddenly walked by a full-length mirror. I saw my bump and it just made me pause. I am now that woman I envied. Blissfully carrying around my bump unaware of how it makes my fellow IF warriors feel. Wow…when on earth did that happen? I just starred at myself in the mirror appreciating the gift that we have been given.

By the end of the day, we were both on the couch and I had time to sit and think again. That’s dangerous!
So to stop all that silly worrying and thinking, I finally popped in a DVD that we are borrowing from our Ds support group. Truth be told, I had been avoiding it because I didn’t want to watch an “inspirational Ds video” that would make me feel weird, sad or worried. But I did it anyhow and I am so glad I did! The movie, Dakota’s Pride, explores the truth about Down syndrome and was truly inspirational! So so so many children out there who are showing us every day that there are no limits to what they are capable of!
Not only did it present the successes of children with Ds, it also highlighted key information from educational/research foundations and a religious standpoint. I was moved to tears a few times (I know, not hard to do these days), and just felt so blessed to have seen it and I hope that I can show my family the video at some point.
It gave me more hope for the future of my son than anything else. I truly felt encouraged about the possibilities he has!


Want some more positive stuff? You got it! I painted my toes (getting harder to do), enjoyed some beautiful weather and got a care-package for Eli that had the cutest owl hat in it.
Bring it on, Sunday, what else do you have for me?

Letter to Family

Dear Family/Friends,

As many of you know, my husband and I are expecting our first child in May! 🙂
We have learned that we will be having a boy and we are so excited about this new addition to our family! It’s been a difficult road to getting pregnant and after fertility treatments and one cycle of IVF, he is certainly a miracle!

We have recently learned that our precious baby has Down Syndrome. We learned the results through a genetic test called an amniocentesis, which is virtually 100% accurate.
While it seems that he has no physical health issues as if right now, our doctors will be monitoring him carefully.

Of course this news has left us anxious, upset and shocked. We are still adjusting. If you see me, I may be showing signs of shock, but I have learned from other parents that we will move away from this time of turmoil to a place of excitement and amazement. One thing we know for sure: we love our son and we hope you will join us in welcoming him.

I know that you must have many questions, and I will try my best to answer, but we have a lot to learn in the next few months about Down Syndrome. I have already started to research! Some of the most important things we have learned are that each person with Down Syndrome is a unique individual, and that recent advances in medicine, education, and acceptance have greatly improved the lives of people with Down Syndrome. More importantly, we have learned that our son will live a rich and rewarding life, and will enrich ours as well.

I know many of you may not know what to say to me when you see me — I understand. I’m not sure I would have known what to say either. I would appreciate if you could avoid saying, “I’m sorry.” Instead, if you could pray that he continues to be healthy and that the remainder of this pregnancy is uneventful. 🙂

I will keep you updated about any issues that come up and when our baby arrives. Thank you so much for your support and for welcoming our little one.

-Barry and Ashley

For you created my inmost being; you knit me together in my mother’s womb. I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well.
Psalm 139: 13-14

Confirmation

My doctor called to let me know that our baby boy does in fact have an extra 21 chromosome and that he does have DS.
We are processing and trying to sort out where to begin with this.

The support and prayers we have received are overwhelming- thank you.