Our Angel Boy Needs Prayers

I apologize for not updating. The past few weeks have been extremely difficult, so this post is going to be rather long.

On Monday, October 3, 2011, I received a phone call from my nurse Deb while at work. At our last prenatal appointment we’d opted to do the AFP test, which checks to see if your baby is at possible risk for Down syndrome and other disorders. I was surprised by the call because I had honestly forgotten we’d done the blood test and certainly didn’t expect to hear what she told us. “You had an abnormal result on your test.” But she tried to reassure me, saying not to worry because they get a lot of false positives with this test and most likely its nothing serious. She was hoping for a miscalculated due date or something like that.

Bless her for being positive, but in my heart of hearts I knew something wasn’t right. I’ve actually felt this way throughout the entire pregnancy. Ever since I first saw those two pink lines indicating we were pregnant, something has felt off. But what expecting mother wants to admit that about her unborn child? I chalked it up to still being paranoid about our miscarriage. Little did I know it was God preparing me for what was coming.

Deb made us an appointment for Thursday with a specialist to go over the test results and do an ultrasound to see if they could find a cause for the abnormal results. Scott and I tried not to worry – honestly we were more excited to find out the gender of our little one. And if our child was at risk for being a special needs child, we were more than ready to accept him/her and prepare for whatever needs our baby might have. We had this appointment at 8:30am and then were scheduled to go to our regular ultrasound with our doctor at 9:30am. At this point I was almost 20 weeks.

So Thursday, October 6, 2011 rolls around. It was a dark, rainy, gloomy morning – which did little to calm my nerves. We got up, got ready and headed to our appointment. When we arrived I got to fill out copious forms about things like genetic family history and exciting things like that. Then we waited. I grew more nervous by the minute, but finally we were called back. They had me lay on the table bed thing for the ultrasound, gooped my belly up, and the technician girl started the ultrasound.

It worried me how quiet she was. She didn’t say much, just continued to make different measurements. I finally said, “Are we allowed to ask if you can tell the gender?” She kind of laughed and said of course you are. She went quiet again for a minute while she searched, then said we probably wouldn’t be able to tell because of the way the baby was positioned – I should have known. The silly little thing had its legs crossed and sitting in such a way that she couldn’t see anything. I always knew my kids would be a tease, even in the womb!

She finished with her measurements, then stood up to leave the room. She said she saw some abnormal swelling in the head and abdomen, told us the doctor would be in soon, and left Scott and I alone.

Tears started welling up. It couldn’t hold it in. Scott noticed right away – he hates when I cry. He just doesn’t like to see me upset. But the tears came slowly and I tried valiantly to stop them. By the time the doctor entered, the tears had stopped, but I knew it wouldn’t be that way for long.

When the doctor came in he introduced himself, then asked what pregnancy this was for us. I told him it was our first and he kind of groaned in an I-didn’t-want-to-hear-that sort of way. He helped me sit up on the edge of the table, then proceeded to tell us we have a 95% chance of losing our baby. And yes, that’s when the tears overflowed and they didn’t stop for most of the day.

I was a little shellshocked, so much of what he told us didn’t entirely stick. He said our baby has a lot of fluid buildup in his abdomen and neck, which is most likely caused by the lymphatic system being blocked. He was leaning towards the cause being due to Down Syndrome or Turner Syndrome – leaning more towards Turner. It’s a genetic abnormality that only affects female’s because it has to do with one of their X chromosomes being partly or completely missing. Because we were unable to determine the baby’s gender on the ultrasound, we didn’t know for sure, but the doctor’s guess was that it’s a girl.

He then offered an amniocentesis – which going into the appointment I was dead set against because it carries a small risk of miscarriage and I didn’t want to do anything to risk the baby. Well, with only a 5% chance of survival doing nothing, and the huge question of what’s causing this hanging over us, we felt the advantages to the test far outweighed the risk, so we had it done. Luckily all went amazingly smoothly, though I hope that is my first and last amnio – having a large needle stuck through my stomach into the uterus really isn’t the most pleasant experience in the world. But we needed to know what risks there are for future pregnancies. If a genetic disorder is detected, we needed to know.

To say we left that appointment completely heartbroken doesn’t even cover the emotions we felt. I took several days off work because emotionally I was a complete wreck. If I didn’t have Scott to lean on, I wouldn’t have been able to keep going. And our family and friends have been such a support. Its amazing how many earthly angels are put in our path to help us through our trials.

Here’s a plug for visiting teaching too. Later in the afternoon I began thinking of my visiting teachers, wondering when I’d hear from them. They’re such wonderful woman and good friends and at a time like this, I could use all the comfort I could get. Well, about 10 minutes after I thought about them I got a text message. From my visiting teacher. Here’s what she said: “Hey Shay. I was just thinking about you. How are you feeling today?” She certainly wasn’t prepared for the news I had to give her, but she too was right there for me. She and her husband came over and brought us Swiss chocolate and talked to us for awhile. I asked her what made her text me and she laughed and said she just thought about me and decided to text me and see how I was doing. It wasn’t some grand heavenly intervention. Just a simple prompting, so simple she didn’t even realize it was a prompting. But Heavenly Father knew I needed her, and she was there for me.

We had another appointment set for two weeks later, and those two weeks were the slowest and quickest two weeks of my life. Everything felt like such a blur. Going back to work was hard because how could I focus with so much on my mind? We were told to expect preliminary results from the amnio on Monday the 10^th – mine and Scott’s two-year anniversary. Turns out we didn’t get the results until Wednesday the 12^th. The lady who called gave me the FISH results (that’s the name of the preliminary results) and she said so far everything looks good. Then she asked if we knew or wanted to know the gender. I told her we definitely wanted to know. A boy. A precious little boy.

I smiled from ear to ear as I hung up. A son, my baby is a little boy. How is that not news worth celebrating? Of course I called Scott first and told him, then my mom and dad and sister. The joy from just finding out we have a son started to fade as confusion set in. Honestly, we were expecting to hear we had a little girl with Turner Syndrome. So I did the only practical thing and left work early to call the nurse back. When I told her we were expecting them to have found something, she looked at my file and realized why. She was kind and explained that the FISH report only looks at certain disorders – Down, the Trisomy’s, and any gender related disorder like Turner. She sympathized with me, to help calm me down and just let me know that yes we are still in limbo, but she’d talk to doctors and see if they could come up with anything else. She also said that at our next appointment they’d do a follow-up ultrasound to check up on him and also they should have the full amnio report to go over with us. I hung up feeling more calm, but still frustrated.

So the waiting game continued. I felt a sense of peace come over me after a few days. Not that everything would go away, but that everything would be okay. I actually received two blessings – one from my dad before our appointment, and one from my father-in-law after. Both were blessings of comfort, and things were said that helped me keep going - like knowing that my Father in Heaven is aware of our situation and that He has a plan for us and our son. Who better to trust with the well being of your child than Heavenly Father? Whatever happens, we know it’s supposed to happen and that all will be well.

Wednesday October 19^th, the doctor called us back to inform us they had our full amnio report back and that everything is normal – our son is whole when it comes to his genetics – no chromosomal abnormalities. This is a huge relief for our future pregnancies because it means we hopefully shouldn’t see this happen again. Now when it comes to our son’s condition, it means we know what isn’t causing his situation, but we still have no clue what is causing it. All we know is he has to have something physically wrong to cause the swelling.

            Thursday, October 20, 2011, we went to our second appointment – I was 21 weeks, 5 days. The same technician did our initial ultrasound and she printed out some darling pictures of our little boy. She said the swelling seems about the same, maybe a little worse, then we waited again for the doctor.

            It certainly was a lot easier going again knowing what to expect. Being blindsided like our last appointment was so hard. At least we could ask some questions this time. We had a different doctor who was a lot easier to deal with. She actually showed us what was going on with our little boy and answered more questions. 

            Our boy was diagnosed with Hydrops Fetalis, and he has a Cystic Hygroma on his neck. Basically, Hydrops means water and Fetalis means all over - so he has fluid swelling all over in his skin and within his abdomen and neck. A Cystic Hygroma is a growth of fluid or swelling on the back of the neck. The mortality rate for this is 60-90%, and again our son has about a 95% chance of passing.

           This doctor didn’t have much hope for him either, but she put it in a much kinder way. “This is one of the reasons life isn’t fair,” she said. I asked if she’s seen this before and she told us its not unheard of – she has seen it several times. But its still pretty uncommon. She also said she’s seen a couple of babies survive, but for the most part, it is a terminal condition.

            If our boy survives to 25 weeks (we’re 22 weeks today) she said we can start talking to doctors about how early he could be delivered and stand any chance of survival. She also said that a lot of times doctors will write off these babies, expecting them to pass any day, but that the babies surprise them and hold out much longer than anyone could have guessed.

            My son is a fighter. He has a reason to be here and I know that he won’t leave until his plan is fulfilled. The fact that he’s still going so strong now with how severe his condition is makes me have no doubt he has a purpose. Do I know how long we’ll be blessed with his presence? Of course not. But every day we get with him is a special miracle and we’re so eternally grateful for the time we’ve had with him so far and look forward to however much time we’re blessed with!

            Our next appointment is the 3^rd of November, to check and see how he’s doing. We’ll just keep waiting and praying until then.

 The black shirted picture was the day of our last appointment - I was 21 weeks, 5 days. The one in the white shirt is today at 22 weeks.

  

Here's his foot and leg and arms and hands.

Here's his little foot - you can see his toes on the left and his heel is on the right - the bottom of his foot is facing up.







Here are his adorable little hands, knuckles facing out. They were up by his face. Awwww.

A better shot of his hands - you can see his fingers!








Here's a profile - the girl had a hard time getting a profile because of the way he was positioned. She had to stab me in the side with the ultrasound thing to get this one lol.

The next ones are the not so fun ultrasounds.

This shows his skull - the front facing left. And on the right you can see where his skin is swollen with fluid. Its pretty bad.




Here's further down his skull and you can see on the right the mass almost as large as his skull. That's the Cystic Hygroma, the fluid filled mass.

 Another shot of the Cystic Hygroma on his neck, this further down his neck so you can see his spinal column.






This is his chest. The white circle is his rib cage, you can see his heart and lungs. The black is extra fluid, and you can see his swollen skin again.




A closeup of the heart and lungs.






His abdomen. You can see his bowels. The black is more fluid, so basically his bowels are just floating around in it. And another shot of his swollen skin. Poor little guy.