A Little Something Extra

Sunday, October 28, 2007

Long week

Where to begin? Now that we're two weeks into the diagnosis, I thought I would be coping better. I guess I am. I can occasionally mention Down syndrome and not burst into tears. But that only lasts until someone asks how I'm doing with the knowledge of our baby's diagnosis.

There are some great online support groups for parents of children with Down syndrome. One of these days I'll get connected to something in person. I'd like to be somewhat "together" and not so emotional before I connect in person. Maybe that's unrealistic.

I'll hit 25 weeks tomorrow. I've had a cold (with ups and downs) for 5 weeks now. It's not much fun. I'm sleep-deprived on top of all the emotional stuff and that is just not a good combination.

There was a tragic death in our family last Sunday so this week was spent trying to deal with that as well as our life-changing news of 2 weeks ago. But God is gracious and giving us some calm in the storm too. Mark and I spent some time discussing names last night. I feel like I need to be able to start talking about our little guy by his name. Please pray for us to give him the name God desires.

Friday, October 19, 2007

Hospital trip scheduled

This morning I had my first appointment with my OB since receiving the diagnosis. I'm measuring (by fundal height) about 2-2.5 weeks ahead. That will likely go up due to increasing amniotic fluid due to baby not "consuming" as much. That's another story in and of itself that I won't bore you with, except to say, "And you thought I was HUGE when I was pregnant with Nathan!" Anyway, Dr. E. said that he would get the ball rolling by calling the Fetal Concerns Program at Children's Hospital of Wisconsin (CHW, in Milwaukee). And wow, the ball is now rolling.

I received a call later this morning from Andrea at CHW. She will coordinate our "introduction" to CHW, which includes appointments with a perinatologist (who will deliver our baby), a pediatric surgeon (may or may not be the one fixing baby's duodenum), a neonatologist (from the NICU), a lactation consultant (some babies with T21 have difficulties with nursing, and it could be a bigger problem since he won't be able to eat for a few days after he's born), and a child life specialist (a counselor who will work with us on communicating with Nathan), and a tour of both hospitals (labor & delivery, NICU, CHW). Andrea is great. She suggested we not do it all in one day if we don't have to because it can be information overload. But with up to 2 hours of transit time each direction, it makes more sense for us to try to do it in one day. So she set off to schedule our day in Milwaukee. It only took her a few hours to call me back with a complete schedule from 11am-4pm on Tuesday, Nov. 6th. Impressive.

Thursday, October 18, 2007

Specific prayers

Some of you have asked how to pray for our boy. Thank you! Please pray that
  1. His immune system will be strong (many individuals with DS are more prone to infections)
  2. He will not have a heart defect (40% of children born with DS have a heart defect)
  3. He will not have any hearing loss (40-75%)
  4. He will not have epilepsy (5-10%)
  5. He will not have hypothyroidism (5%)
  6. He will not have opthalmic disorders, i.e. cataracts, glaucoma, etc. (60%)
  7. He will not develop autism (10%)... side note: this is the scariest to me because the others don't affect how he could learn.
  8. He will be high-functioning
  9. He will have good muscle tone

His ability to learn, grow, and communicate are most important to us. So please pray that we would find the right therapists to work with him.

One of these days I'll be able to say, "My son has Down syndrome" without crying. But I'm not there yet. So please pray for us too.

Wednesday, October 17, 2007

Are we sure?

A lot of people out there seem to know of someone (or multiple people) who "were told their baby would have Down syndrome but the baby was perfectly fine." I know these statements are meant to encourage me. But here's the deal: I have not heard of ANYONE who was given an incorrect diagnosis of Down syndrome by an amniocentesis.

The problem is that there are lots of screening tests done that are mistaken for diagnostic tests. For example... there is a screening test called the "triple screen." This combines an ultrasound that measures the nuchal translucency (fluid level on the back of the baby's neck), along with bloodwork that measures AFP (alpha fetal protein), HCG, and estriol. This is considered a non-invasive screening. All of those measurements are combined together to determine the odds of that baby having certain chromosomal issues. So, for the woman whose likelihood of carrying a Down syndrome baby is 1:750 based on her age alone, the results of her triple screen might change her odds to 1:20. That is a "screen positive" result (as compared to her odds changing to 1:10,000). And if her AFP is especially low, for example, her doctor might tell her there's a very strong chance her baby has Down syndrome. BUT THIS IS NOT A DIAGNOSIS.

Go a few more weeks down the road and a level II ultrasound shows "markers" (soft or strong) for Down syndrome, her doctor might tell her that her risk is even higher. BUT THIS IS STILL NOT A DIAGNOSIS.

The only way to know for "sure" (99.4-99.99% accuracy) is to do a CVS or an amnio. These are invasive tests, meaning, a needle is inserted into the placenta (called a CVS, usually done between 11-14 weeks gestation) or into the amniotic sac (call an amniocentesis, done anytime after 15-16 weeks). I don't know as many details about a CVS.

But here's what we know about the results from our amniocentesis. The doctor who performed my amnio is one of the leading geneticists in the U.S. His lab is in his office (the amniotic fluid was not shipped out somewhere else). The lab was able to create 30 cells, all of which contained an extra 21st chromosome.

So are we sure? Yes, we're sure. So to pray for our baby to not have Downs is definitely to pray for a miracle from God, that He would remove that extra chromosome from every cell in our baby's body. Can we pray for miracles? Absolutely. Can we pray for healing and God's will regardless? Absolutely. And Jesus gave us the example that we can do so because He did on the cross. In Luke 22:42 He said, "Father, if you are willing, take this cup from me; yet not my will, but yours be done."

Okay, that was my technical post. I'll follow up with today's state of mind later.

Monday, October 15, 2007

Pray for healing?

Should I pray that our little boy would be healed? This is a tough one for me. Our baby already HAS Down syndrome. Can you pray for a fact to change? I mean, I feel like I can pray for a change in heart (mine or someone else's). Or for something in the future (for example, that our boy does not develop autism as well, though the jury is still out on whether autism exists in a person before it's detected, I think). But to pray for a reality to change... I have a hard time with that. I mean, our boy has 47 chromosomes, not 46. And I would have a hard time with the balance of praying that he would be healed and preparing myself for what we have in store for us with a baby who has Down syndrome. But Christ has performed miracles before and He could do it again.

So, for those of you who feel called to pray that either a) the lab test was wrong (statistics show 99.4% accuracy), or b) Jesus would perform a miracle and remove the extra 21st chromosome from our son's body... please do so. Mark is praying for that. I know others are too. I don't know if I'll get there. But I so appreciate your heart for our son.


I'm not sure if I'm allowed to cut and paste the article into my blog, so I'll just include a link to an article/poem/analogy/short story, called "Welcome to Holland." I think just about every parent I've "met" online who has a child with disabilities has referenced this story so I thought I'd share it with you, my friends, who are trying to understand how we feel right now. Speaking of which, I'll try to write more later.

Saturday, October 13, 2007

Diagnosis confirmed

My first blog. I had always admired those who could do a blog for their children. I love catching up on friends' lives who live far from me; however, my motivation to do so myself just never kicked in. But maybe this is what I need right now... a way to "verbalize" my feelings and thoughts about what is going on in our lives.

The call came yesterday afternoon at 1:50pm. "Hello, Jennie, this is Dr. H. I have the results from your amniocentisis and I have bad news for you. Your baby has Down syndrome." Should he have phrased it like that? Shouldn't he have been encouraging? Maybe something like, "You might have some challenges ahead of you, but I know you can do this?" I guess he doesn't know that. How could he? WE don't even know we can do this. But at this stage of the game, it definitely seems like "bad news." I confess that my first thought was not T21 (Down syndrome)... REALLY bad news would have been T13 or T18, right? Those are both terminal.

A friend told me yesterday that she was "excited." I guess that's related to hearing about how God is going to use this child. Here's my problem: it's easy for her to be excited because it's not HER life that has been permanently radically altered. She won't have to explain to a 6-year-old boy why his little brother can't throw a baseball yet. Or explain to a 4-year-old boy why these random people come into the house to pay extra attention to his little brother in order to help him learn and talk. Or be the one people look at with pity in their eyes when they see a child with special needs walking through the mall with her.

When we found out 10 days ago that our little guy would need surgery soon after birth to open his duodenum, I didn't cry. I mean, I worried, and I still do. But I didn't have the flood of tears like I've had since 1:50pm on 10/12/07. I know the tears will diminish over time. I know this is just part of the grieving process. I feel his kicks and he could be just like any other baby in utero. But he isn't. He's different. And he always will be. I know I should use the word "special" and not the word "different." But aren't all children "special?"

I'll share more details about how we got to this stage in later posts. But for now, I can't think of anything else to say. "God works ALL THINGS together for good." It's in the Bible, so I know in my head that it's true. I have to find my faith to lean on that as truth.