Saturday, February 27, 2010

This pregnancy

This pregnancy has in the most part been extremely similar to when I was pregnant with Lana. I've had no morning sickness, a small amount of "stretching cramps" which are pretty normal in the first trimester... I haven't started the dreaded foot/leg cramps yet - but with Lana, I didn't get that til late 2nd trimester and into the 3rd trimester though.

The only difference that I have noticed so far is that it's harder to feel the baby move. This is normal in pregnancies with a Skeletal Dysplasia baby. The limbs of the baby are much shorter than in a normal pregnancy, so what would usually be a fully fledged kick only feels like a little flutter. I have been feeling the baby move a bit - mostly rolling around rather than kicking though, I think. 

People are asking me all the time how I am. I tell them I'm perfectly healthy - there's absolutely nothing wrong with me. I'm not feeling sick, because I'm NOT sick... the problems only affect the baby. I don't know if this is true of other SD pregnancies, or even in other high-risk pregnancies. But it does feel kind of strange to know that something potentially life-threatening is happening to the baby and I feel absolutely nothing.

I know in my previous posts, I didn't go into detail about what the problems are with the baby... so I'll do that now.

I had my ultrasound at 17 weeks. At the time, all the bones in the limbs were measuring around 14 weeks, but the head and the length of the baby were right on 17 weeks. So far, the internal organs all appear normal (thank God!), although the kidneys may be a bit small. The rib cage appears to be a bit restricted. I can't remember the exact measurement but it was in the 25-50% range. Not dangerously small, although the doctors warned us that this measurement may get worse later in the pregnancy. This is the real determining factor in whether the baby will be able to live or not - most babies with lethal SD die because their lungs have no room to develop in their restricted chest cavity, so when they are born, they cannot breath and usually only live for an hour or so. So if you're praying, please pray in particular for the baby's ribcage to continue to grow larger, and for her lungs to develop normally. This is the most important factor in our little one's survival!! I read that in normal babies, the chest to tummy ratio (not the technical name, but it's nearly 1am!) should be 0.8-1. In lethal SDs, this ratio is around 0.5. Our bub has a ratio of about 0.7 - so not "definitely lethal" but it could be better still!!

In addition to these issues, the baby has what appears to be a "hitch hiker's thumb" - that is, it is in the wrong position, similar to the image below.

Also, she appears to be club footed - although at the ultrasound we couldn't see the feet so well because the umbilical cord was covering them! And the chin appears to be small as well.

I have TONS of ultrasound pictures. With Lana, when I had an ultrasound, we would get maybe 3 or 4 pictures from each ultrasound. With this bub, we got 40!! I'm not kidding, I just counted them all. With Lana, we had to pay extra to get the 3D ultrasound done. With this bub, they just turned it on without even telling us they were going to do it. I'm going to have to upload some of the pics to post on here.

I read something early in this pregnancy (before I even knew that there were problems) that said "It's important to remember when you have your ultrasound that the purpose is NOT to get the first photo of your baby for scrapbooking - the purpose is to look for abnormalities", and never before did I realise how true that was until I was in this situation!! 

Anyway - I've been going over the "medicine" of this pregnancy, the numbers and everything, and I have a non-medical opinion that the baby MAY have Diastrophic Dysplasia but I'm going to wait and see what the doctors say. I just want to be able to say "I said it first" if it turns out to be the diagnosis ;) The symptoms seem to fit (particularly the shape of the hands, it's a very common sign of DTD)... and a good thing about that is that Diastrophic Dysplasia is not lethal - lifespan is normal, the mind is not affected... Matt Roloff from the show Little People Big World has this form of dwarfism. Anyway - we'll wait and see what the doctors say.

So at the moment, I'm feeling pretty good about our chances of having a non-lethal form of the disease. From reading the blogs of mothers with babies who have died from this, their numbers seem so much worse than mine and they often had other complications as well, such as no amniotic fluid, or problems with the baby's internal organs. I'm feeling positive - although I know that I'm not a doctor. One fellow SD mum said to me in an email today, "It sounds like you have lots of reasons to be optimistic- most of the people I have talked to that had a poor outcomes got that news right away. It sounds like you will soon be researching on raising a little person." - it made my day!!

I know that even if we DO have a "little person" baby, we will be faced with other issues and obstacles. Maybe surgeries, braces (not on the teeth - the ones that go on their bones to try and set things in the right position), then the whole social aspect of things as well. But I just want this little one to live and be healthy!!

So I'm cautiously optimistic. I know these things are so hard to diagnose and sometimes a lethal diagnosis results in a healthy baby, and sometimes it's the other way around too. It seems to be one of those things that you can't really tell with 100% certainty until the baby gets here. But I'm still feeling good :)

Friday, February 26, 2010

Thank you

In the last day or so since I started this blog, I've gotten soooooo many emails and messages from friends, and I just want to say thank you all so much for your love and support! I really don't know how I would manage on this journey without such great friends and family. 

A couple of especially warming things they have shared - one friend, who I always knew had a disability but wasn't sure exactly what it was, shared that it was also a type of Skeletal Dysplasia. When he was born, the doctors didn't expect him to live more than 6 months. He is now just about 30 and leads an extremely active life which includes a silver medal from the Commonwealth Games! 

Another friend shared how her baby started showing signs of problems at 28 weeks and the doctors suspected that the baby may have had some form of dwarfism (a type of SD). They monitored the baby closely and ended up having to perform an emergency C section at 34 weeks. The baby had a rough start and spent 6 weeks in the hospital - but now is a healthy 2 1/2 year old without dwarfism. 

I've also been searching for other blogs written about SD pregnancies/children. A lot of them do not have happy ends - but I especially love How Life is Measured and Evan's Story, both of which talk about their SD babies who were given a lethal diagnosis but surprised the doctors by living - both do have different forms of dwarfism, but are happy and healthy toddlers now (neither of the blogs have been updated for a while though!!)

I also wanted to add, with regards to my last post, it wasn't meant to be a "stab" at anyone in particular. I was writing generically about the things that I've personally found helpful and what I haven't found helpful. I apologise if I have caused anyone offense. I know that people are just trying to help in whatever way they know how. And I know it's a difficult thing to do - so I will try to grow to be more gracious and appreciative (the comment about "completely discrediting yourself" perhaps went a little far... So sorry!!) 

Thanks once again, for helping us to stay positive and for being there for us in this difficult time.

Thursday, February 25, 2010

What to say?

The past couple of weeks - ever since we received the bad result on the nuchal fold test - people have been trying to give us various words of encouragement. I try to accept them all with grace because I know that the person talking to us is trying to help somehow. But some things are more encouraging than others, and some don't help as much but instead make me more upset. Maybe someone else in my position would be encouraged by it, I don't know.

For me, what has been encouraging me has been the simple "I'm thinking of you guys" or "I'm praying for you". Another encouraging thought has been when people have given us different scriptures - if you don't know the words to say, there are often words in the Word of God that will be encouraging.

I have found a lot of encouragement in talking to my friend Heather who not too long ago, lost her baby girl Madelyn. Her story is found here. She has walked this road of uncertainty before me and knows what I am going through right now. Just about everything that I have said to her, she has said "Yes, I've been there" - and in a lot of cases, she can even tell me how I am likely to feel as the pregnancy goes on. I hope that our stories deviate - and I'm sure that she hopes that for me as well - but our high-risk pregnancies will still have that common ground regardless of the outcome.

What I personally do not find encouraging is when people tell me that everything is going to be ok. Because everything is NOT ok. I don't say that because I lack faith - but regardless of the outcome of this situation, I have already lost something. I've lost the "perfect, easy pregnancy". I have to go to more frequent check ups. Instead of looking forward to each ultrasound as an opportunity to see our little one, now they are tainted by the knowledge that the doctors are looking to see whether our baby may not make it. I also will probably not be going to my hospital of choice, but I will need to deliver in a hospital more suitable for dealing with high risk cases. Even if the baby turns out to be perfectly normal (which medically is unlikely, but I know that miracles do happen), it is still a hard road that we are walking right now. 

So please, if you know someone who is going through something like this, don't minimise what they are going through with pleasantries that don't really identify where they are at. Acknowledge that they are going through a hard time and need your love and support. Don't tell them what the outcome is going to be unless you're a medical doctor who knows their particular case, or a prophet who has a specific word for their situation (note, if you do tell them what the outcome will be and you are wrong, you will completely discredit yourself). 

I have been on the other side of the fence and I know what it is like to not know what to say. I always mainly just said the simple "Thinking of you, praying for you". But it wasn't until now that I learned that in a lot of situations, that may be the best thing to say after all...

Wednesday, February 24, 2010

Holding onto Hope

How to start a blog? I have no idea, I've never done this before. I thought about it during my first pregnancy - it seems like a nice way to write down all those thoughts and remember them. Particularly for me, living so far away from my family. I thought it would be nice for them to be able to read my updates and maybe the distance wouldn't seem so far. But I never wanted to do it enough to actually sit down and start.

I had a pretty uneventful pregnancy with my firstborn. I had no morning sickness, no complications, a fairly easy delivery. She was a healthy happy baby. Ate well, slept well. Walked and talked on the early side. A complete joy to us. It took us a while to conceive - but other than that, it was all very easy.

After she was born, my only fears were that it would take a long time to conceive again. We wanted to have three kids and have them close together so I was ecstatic when we found out we were expecting again when she was only nine months old. Unfortunately, we lost the baby at about 5 weeks.

After my miscarriage, it wasn't too long before we were expecting again, due in July '10. In this pregnancy, it seemed much like my first - no morning sickness, I felt good. Everything seemed set to go the same way until we had the Nuchal Fold test at 13 weeks of pregnancy. A normal result is meant to be under 2.5mm but our baby had a result of 5mm - well outside of normal. We were given a risk of 1 in 7 for Downs Syndrome. 

I spent a few days googling various things about Downs. I knew that there was an 85% chance that it wasn't even Downs so I knew that the odds were still in our favour. From what I could find, Downs didn't scare me. Most Downs babies are sleepy, happy, have minimal health problems and have a life expectancy of 50 or so. Of course I wanted my baby to be normal, but I could live with Downs. 

At 17 weeks, we went for another scan and the doctor said "I'm sorry but this seems to be a problem with the skeleton. I need to refer you to a doctor who specialises in prenatal diagnostics. This is outside of my area of expertise." He got us an appointment within 3 hours - I'd never had a doctor make appointments on my behalf before. I went into the waiting room full of pregnant ladies and had a cry - knowing that my odds of having a normal baby were decreasing. 

At the appointment with the specialist, she confirmed what our original doctor suspected. "Skeletal Dysplasia". An abnormality of the skeleton. At the moment it seems to be only affecting the limbs of the baby but the main danger is that as the baby grows, the abnormalities will affect the brain or the lungs and cause the baby to be unable to live. A google search tells me that 25% of babies diagnosed with this condition are stillborn. Another 30% don't make it to 6 weeks. Out of the other 45% though, the news may be "better" than Downs - the most common cause is achondroplasia which results in the baby being dwarfed, but life expectancy is normal and maybe more encouragingly, the baby's brain is not affected so the baby can live a normal life. The doctor said that there is "very little chance" of the baby being normal. We may not find out the exact type of Skeletal Dysplasia until the baby is born though.

I am encouraged by the fact that I know that God has a plan not only for my life, but also for this little one's life. And my prayer is that regardless of the outcome, that He will be glorified and that He will give my husband and I the strength and grace to go through whatever is placed in front of us. I know that God is able to do a miracle, I know that if He wants, He can heal our bub so that she's born completely normal. I also know that sometimes, He has a greater plan and that His plan is above our plan - and who am I to tell God what to do? 

I am holding onto hope though. Hope that my baby girl will be happy. Hope that she will be able to live a long and fulfilling life. Hope that I won't have to lose her before I even have a chance to meet her. But most of all, hope that her life will make a difference somehow...