Friday, 27 July 2007

Useful Video

In case you aren't an avid reader of Tonya's blog (see the links on the left), here's an informative Video about dwarfism. It's only about 5 minutes long so watch it in your coffee break.

Thanks for Tonya for the link in the first place!

Friday, 20 July 2007

That's my boy!

After a mixed time at our local hospital on Monday, a trip to Addenbrookes was organised for yesterday. I had a meeting at work which I was reluctant to miss and, after much consideration, Clare and I decided that Clare's parents would take her to the appointment. Monday’s visit had left us a bit confused and trips to Addenbrookes have not always yielded good news in the past so we were looking forward to it with trepid expectation.

Well… I think the results speak for themselves!

Clare had a different (but equally helpful) consultant who suddenly flicked the picture over to a 4D image and there was this little face peering back at Clare. We were very, very happy to see our little lad’s face for the first time. Apparently, he looks like me… I don’t know who that’s more insulting to!

The latest is: His head is still a normal size and not showing any of the expected characteristics, such as frontal bossing, cleft palette, etc. His chest:abdomen ratio has decreased slightly but nothing to cause much concern. His legs are still very short, the femur being just 30mm at 28 weeks! But the limbs are still growing though so that’s good.

The 20 week scan showed signs of a cyst on his lung (called a CCAM). This didn’t seem to be present at the last Addenbrookes scan but was back for this one. The good news is it is getting proportionally smaller as his lungs increase in size. There will be no need for ante-natal care but it will need to be monitored after he is born, just in case.

As far as Clare is concerned, she has a lot of amniotic fluid. This will most likely mean that baby arrives early, though it’s impossible to know quite when. This is a concern because we don’t want him just yet! We’re just trusting in God that His timing will be right.

The increased fluid has left her feeling uncomfortable and she is also experiencing pain in her ribs and back. She still remains positive but some days are easier than others. Today was her last day as a teacher, so I think the well-earned rest will do her a great deal of good.

So all told, we have a lot to praise God for! In the midst of difficult times, He continues to bless us more than we could possibly ask. I’ll finish with His word to us… very apt I think!

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. My frame was not hidden from you when I was made in the secret place.
When I was woven together in the depths of the earth, your eyes saw my unformed body. All the days ordained for me were written in your book before one of them came to be.
Psalm 139 v 13-16

Wednesday, 18 July 2007

When only the best...

On Monday, we went for a growth scan in Ipswich, at our local hospital. Up until now, we've been at Addenbrookes which is in Cambridge, about an hours drive from where Clare and I live. Addenbrookes is our region's centre of excellence when it comes to baby things. We've had a very good level of care there and all the people are wonderful!

Because they are considerate people, they suggested that we had an interim scan in Ipswich to save us a drive. This proved to be more hassle than it was worth. Having done the scan, the consultant alarmed us with phrases such as "Obviously, I don't want him to arrive before 32 weeks..."; suggested we arrange a new appointment with Addenbrookes immediately; and then, refused to give us an information about how our boy was actually doing!

*deep sigh*

(It's worth adding that this has been our only bad encounter at this hospital, but it's been enough to put us off going back there for any further scans... I'd rather drive for an hour!)

Anyway, the whole event left Clare feeling very upset, and me absolutely livid! (It's hard to be Christian when you're surrounded by idiots!).

Nevertheless, the outcome is this... Clare has increased amniotic fluid. From what I've read, this is an expected side-effect of carrying a baby with Achondroplasia. Even so, she has been tested for Gestational Diabetes and we will get the results soon. She's also had two steroid injections to mature little man's lungs...just in case he chooses to grace us with his presence a bit early!

As far as I can gather:

  • His arms and legs are still growing (albeit at the same slower rate as before)
  • His chest:abdomen ratio is still good (normal is 0.9, lethal dysplasia is 0.5, our boy is 0.86!)
  • His head has increased in size : ( but seemingly not too dramatically

Unfortunately, I've come to these conclusions by trawling through his notes, plotting graphs, tapping numbers into calculators, etc... so it's still anyone's best guess. It would have been nice to have been told all this, categorically, on Monday but the consultant felt that the results of the scan were not comparable with those in Cambridge ("different operators, different machine")

As a result Clare is going to Addenbrookes tomorrow to get the real story. By the grace of God, she is still feeling positive despite all these setbacks. We will wait and see what tomorrow holds, knowing that whatever comes our way, we believe in a God who is able to help us through it.

"To him who is able to keep you from falling and to present you before his glorious presence without fault and with great joy— to the only God our Savior be glory, majesty, power and authority, through Jesus Christ our Lord, before all ages, now and forevermore! Amen."
Jude 1 v24-25

Monday, 9 July 2007

New friends

We've been in email contact a few times with Tonya and Knoah. Their website is a really interesting read for anyone who's just started on the road we have and it contains loads of useful links. They've been lovely to us so I'd just like to thank them for all the support they've given to us already!

Tonya sent us this link the other day which explains a lot about about skeletal dysplasia in babies before they are born. It's definitely worth a read.

The internet is an amazing resource! Never before has so much information been available so readily. When we came back from the hospital after getting the prognosis, we naturally went on the internet to try and get some more information. Tonya's website was one of the first we came across and it was such a relief to see a beaming Knoah reassuring us that everything would be alright!

Just a word of warning when using the internet though... sometimes you can have too much information and this applies whether you are dealing with Achondroplasia or any other illness. The first thing I (mistakenly!) did when reading the link above was to chart our little one's bones on the graph and check the probable diagnosis. If I read the graph correctly (not my strong point!), this meant either Thanatophoric Dysplasia (which is lethal) or Osteogenesis Imperfecta which is brittle bone disease.

Panic! This wasn't what I thought! But then... Reality check... they've already told us they think it's non-lethal and his bones are perfectly formed on the scan (although much too small!). So it can't be either of those then.

The lesson to learn is the internet is useful but it's the doctors who have the best idea... Not Andy armed with Google! Get some background info by all means, but don't go bananas worrying about all the possible outcomes without some solid evidence to back it up!

I'm a Christian, so I'm probably bias, but I think the Bible has some good advice about taking it one step at a time.

"But seek first his kingdom and his righteousness, and all these things will be given to you as well. Therefore do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own." Matthew 6 v33-34