Clare and I wish all the readers of our blog a very Happy Christmas! We pray that amidst all the turkey, presents and mayhem you will be able to spend some time thinking about the real "reason for the season".
We would also like to thank everyone for their love, prayers, supportive messages and practical help over the last few months. You have all helped us more than you could ever know and we are extremely grateful... We couldn't have got through it without you!
We hope you enjoy your Christmas!
Love
Andy and Clare
Monday 24 December 2007
Sunday 16 December 2007
Post Mortem Results
On Friday, we went to Addenbrookes to see the consultant who did all Theo's pre-natal scans. By chance, the final post mortem results had been released that morning and so he went through the summary with us. There are no genetics results as yet and we are hoping to go through the post mortem results more thoroughly with the paediatrician in Ipswich who helped treat Theo. Nevertheless, some of the picture is starting to come together.
The results concluded that Theo had either Spondyloepiphyseal Dysplasia Congenita (SEDC) or Kniest Dysplasia. These two are very similar in characteristics and are both mutations of the same section of gene (that's as about as much technical detail as I can give when it comes to genetics!). Although not necessarily lethal, possible problems of these conditions include a small trachea and this was clearly the case with Theo.
Both the conditions are autosomal dominant which means that Clare and I could not carry the gene without having the condition itself. We clearly are not effected so this is good news because it means that it is not something in our genes that we passed on and (hopefully!) this reduces the odds of recurrence.
A random mutation at conception is still one possibility but another, which we were not previously aware of, is Gonadal Mosaicism. This condition could be present in either of us and is where a percentage of our gametes (sex cells) carry a mutation which could cause Theo's condition.
We are now waiting to see the genetic counsellor who will hopefully be able to shed some light on which of the two possibilities is most likely and advise us on what to do next.
We also are still awaiting Theo's genetics tests which will show whether or not he carries the offending gene. If he does, the doctors will be able to offer us genetics tests early on in any future pregnancy to determine whether or not the situation has arisen again. Even without the genetic test, our Addenbrookes consultant seems to think that growth scans at 12, 16 and 20 weeks will be able to diagnose the condition by measuring the long bones.
So this is definitely a positive step forward and it is nice to see things moving along at last. However, it looks like it may be 6 weeks until we can see the genetic counsellor and then a further wait whilst they come to a conclusion. As you can imagine, this is a little frustrating as we would like to try again to start a family as soon as possible so please pray for patience! Nevertheless, we trust in God's timing. We know that it has proved correct in the past and hope that it will do the same in the future.
Thank you to everyone who has continually thought of, prayed for and helped us. We really appreciate all that you do!
The results concluded that Theo had either Spondyloepiphyseal Dysplasia Congenita (SEDC) or Kniest Dysplasia. These two are very similar in characteristics and are both mutations of the same section of gene (that's as about as much technical detail as I can give when it comes to genetics!). Although not necessarily lethal, possible problems of these conditions include a small trachea and this was clearly the case with Theo.
Both the conditions are autosomal dominant which means that Clare and I could not carry the gene without having the condition itself. We clearly are not effected so this is good news because it means that it is not something in our genes that we passed on and (hopefully!) this reduces the odds of recurrence.
A random mutation at conception is still one possibility but another, which we were not previously aware of, is Gonadal Mosaicism. This condition could be present in either of us and is where a percentage of our gametes (sex cells) carry a mutation which could cause Theo's condition.
We are now waiting to see the genetic counsellor who will hopefully be able to shed some light on which of the two possibilities is most likely and advise us on what to do next.
We also are still awaiting Theo's genetics tests which will show whether or not he carries the offending gene. If he does, the doctors will be able to offer us genetics tests early on in any future pregnancy to determine whether or not the situation has arisen again. Even without the genetic test, our Addenbrookes consultant seems to think that growth scans at 12, 16 and 20 weeks will be able to diagnose the condition by measuring the long bones.
So this is definitely a positive step forward and it is nice to see things moving along at last. However, it looks like it may be 6 weeks until we can see the genetic counsellor and then a further wait whilst they come to a conclusion. As you can imagine, this is a little frustrating as we would like to try again to start a family as soon as possible so please pray for patience! Nevertheless, we trust in God's timing. We know that it has proved correct in the past and hope that it will do the same in the future.
Thank you to everyone who has continually thought of, prayed for and helped us. We really appreciate all that you do!
Sunday 9 December 2007
Did you hear it too?
Did you hear it too?
They say that angels don’t appear nowadays.
Yet that’s what it was like, a mighty choir, joyful, glorious.
A strange song, ebbing and flowing like the eternal sea,
Far away beyond the stars.
Did you hear it too?
Perhaps I just imagined it. Wishful thinking. Was it all in my mind?
And yet the feeling was real. The love was real, overwhelming,
Beyond all human sense or logic, bright as the sun,
Dazzling my eyes.
Did you hear it too?
Did you hear it as your soul flew to the arms of your Saviour?
Did you know that you would leave us grieving?
Did you know how hard it would be?
Did you know that we would never forget?
Did you hear it too?
That majestic choir would have engulfed all other sounds.
All you would have heard was the music of the love of God.
One day we shall hear it too.
One day we shall all sing together.
by Hugh Dungey
Monday 3 December 2007
We're all going on a....winter holiday!
Clare and I are off to Centre Parcs for 5 days today. It should be a very relaxing break and is well needed!
In case you missed it, Candi left a message on my last post to let us know that she knows exactly what we're going through. Her blog tells an uncannily similar story to ours! Her daughter, Avery, was diagnosed with a lethal form of Skeletal Displaysia (possibly Thanatophoric) and tragically was called home just before she was born on 13th October.
Please take time to read Candi's story and pray for both her and her husband as they come to terms with their loss.
Hopefully, we will return well-rested and prepared for the run up to Christmas!
In case you missed it, Candi left a message on my last post to let us know that she knows exactly what we're going through. Her blog tells an uncannily similar story to ours! Her daughter, Avery, was diagnosed with a lethal form of Skeletal Displaysia (possibly Thanatophoric) and tragically was called home just before she was born on 13th October.
Please take time to read Candi's story and pray for both her and her husband as they come to terms with their loss.
Hopefully, we will return well-rested and prepared for the run up to Christmas!
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