Yesterday, we had our first genetics appointment. Although we've had a lot of input from various doctors regarding the genetic side of Theo's condition, this was the first time that we had talked to someone who was fully qualified to comment on the genetics.
We found out that Theo's genetic samples have yet to be submitted for testing as they were waiting for the go-ahead from us to proceed. Now that they have that, the samples are going to be sent to a laboratory which specialises in skeletal dysplasias. The geneticist told us that they might be able to get the work done at Cambridge, but failing that it would need to be sent abroad. The time scale is 2 months in the best case, but could be anything up to 6 months.
The results of Theo's genetic tests should hopefully reveal that he has the gene that causes SEDC/Kniest and so confirm the original diagnosis. If this is the case, it will mean that they have a genetic test which can be conducted at about 12 weeks into pregnancy if that is what we decide to do. In the absence of any such test, early growth scans should be able to pick up indications of a problem.
So far, so good... but now we get to the chance of recurrence. As a back drop to this, the problems associated with Collagen defects (such as SEDC/Kniest) include eyesight, hearing, bone growth, early on-set of arthritis, spine and joint issues, amongst others.
Now as a under-average height, arthritic, half-deaf, flat-footed, talipes-affected, loose-hip jointed kind of guy... this set off a few alarm bells! Although the geneticists we saw whilst Clare was pregnant didn't seem that concerned with my various ailments, it turns out they might have more of an impact than originally thought now that the diagnosis has changed from Achondroplasia to Kniest or SEDC.
It is possible that I have Mosaicism with regards to the collagen defect which effected Theo. As I understand it (and here comes the science part), this would mean that a certain subset of my cells would be affected by the defect and, if this were the case, would account for my one or two problems. If my sperm were effected, it would explain how Theo ended up as he did.
In terms of predicting the likelihood of it happening again, it gets a little tricky. As I understand it (and I probably don't!), if I suffered from this problem, and all my sperm were defect, then that would leave us with a 50% chance of recurrence. If only 1% of my sperm were affected, that would take the percentage down to a half.
Unfortunately, it seems unlikely that they will be able to give me a percentage sperm defect amount and so we may not be able to find the exact chance of it happening again.
But, before we get too ahead of ourselves with the doom and gloom, they haven't said that I have this problem yet. It's just an avenue they think is worth exploring. My issues could be all coincidence. After all, I lost my hearing in one ear when I was 3 so that probably isn't genetic... the arthritis could just be a result of my bad legs. The are going to take x-rays of my long bones, spine, etc and send them to Great Ormond Street for examination. That will give them more of an indication of whether they think I'm affected.
So that's the score. I haven't covered everything off because it gets quite detailed and I don't want to bore people with technicalities! If you want to know more information, drop me a mail and I'll fill you in.
How does this make us feel? A bit despondent, if I'm honest because we were quite hoping that it would just be "one of those things" and we wouldn't have to worry about it again. Also, we're going to have to wait even longer for answers that may be difficult to take and require us to make hard choices.
Nevertheless, we know that God has a plan and that this plan is good. We know that He will help us on this new path and give us the strength to get through it because He's done it before. So, we are in the process of picking ourselves up and getting on with it. Please pray for us, particularly Clare as she's taking this quite hard and had really hoped we could move forward with our family in the near future which seems unlikely now.
I will keep you posted with more news as it happens. Thanks for reading!
Wednesday 16 January 2008
Tuesday 1 January 2008
Happy New Year!
Firstly, Clare and I wish all our blog readers a Happy and Prosperous 2008!
Secondly, we saw our paediatrician yesterday and he went through the post-mortem results with us in greater detail. The overall assessment is still the same but we did learn some new things as a result of the visit.
The post-mortem revealed that Theo was more poorly than we had realised from the earlier results. He had no cartilage around his trachea and this is one of the reasons why breathing was so difficult. The airways could inflate while air was being pushed into him but then collapsed before carbon dioxide could be exhaled. The paediatrician feels that such a condition made Theo "incompatible with life".
In addition to this, there were slight issues around the top and bottom of his spine which meant some of the vertebrae were fused. The 20 week scan had shown some indication of this but hadn't been evident on subsequent scans.
The report concludes with a likely diagnosis of type II collagenopathy and Kniest and SEDC are both types of this disorder. Such a condition effects the connective tissue and clearly problems with the cartilage were quite prolific in Theo.
We discovered that samples from the post-mortem have already been analysed by Great Ormond Street Hospital in London. As conditions such as Theo's are so rare, there is a European group which gathers information and analyses it and Theo's samples have been sent to Amsterdam as well. He certainly is well travelled!
Once the results from Amsterdam have returned, we will be able to proceed with the genetic tests and we hope to get a genetics appointment fairly soon.
So, overall, another positive visit. Although difficult for us, it is reassuring to know that Theo would not have survived and therefore his little life ended quickly without needless suffering. We feel blessed that God, in his mercy, did not put us in a position where we had to make difficult decisions. We continue to be hopeful that this is just an isolated occurrence, though we still must wait for further results before we know anything for sure.
On a final note, we know that for many people as for us, 2007 has been a difficult and testing year. We take courage in the strength and resolve that has been demonstrated by so many of our friends in these hard times. We, like many people we know, acknowledge that the strength we have comes, not from ourselves, but from God.
How shall we look back? Naturally, with a great deal of sadness but also with joy because God is working out His plan in our lives. Something Clare wrote on Tonya's blog highlighted an interesting point for me. In the Bible, it talks about God using the things that are weak and seemingly nothing to promote His Gospel message. He does this so that no-one can boast about themselves but only about God.
Brothers, think of what you were when you were called. Not many of you were wise by human standards; not many were influential; not many were of noble birth. But God chose the foolish things of the world to shame the wise; God chose the weak things of the world to shame the strong. He chose the lowly things of this world and the despised things—and the things that are not—to nullify the things that are, so that no one may boast before him. It is because of him that you are in Christ Jesus, who has become for us wisdom from God—that is, our righteousness, holiness and redemption. Therefore, as it is written: "Let him who boasts boast in the Lord."
1 Corinthians 1 v26-31
Theo was certainly little and weak but, through him, many life's have been touched and more people have learnt something new about God than would have been achieved without him. So, in his short life, God used Theo for His glory just as He promises to use all of us if we let Him.
And looking forward to 2008? Faith in God gives us a hope for the future, just as the Bible promises.
"For I know the plans I have for you," declares the LORD, "plans to prosper you and not to harm you, plans to give you hope and a future."
Jeremiah 29 v11
This hope is not wishful thinking that things will turn out for the best. In fact, the Bible never promises that things will always be easy and go the way we want them to. What it does promise is that God is there with us every step of the way... that He has a plan that is glorifying to Him and that we have a part to play in it... that He loves us and whatever life on Earth puts our way, we have the promise of heaven to look forward to.
So the big question for 2008 is not "How will life turn out for me?" or "What will happen next?", though these are important questions. It is "How is God going to use me for His glory this year?" If this is a question you've never thought about before, think about it today. God wants to answer that question and, if you let Him, your life will never be the same again.
Happy New Year!
love,
Andy and Clare
Secondly, we saw our paediatrician yesterday and he went through the post-mortem results with us in greater detail. The overall assessment is still the same but we did learn some new things as a result of the visit.
The post-mortem revealed that Theo was more poorly than we had realised from the earlier results. He had no cartilage around his trachea and this is one of the reasons why breathing was so difficult. The airways could inflate while air was being pushed into him but then collapsed before carbon dioxide could be exhaled. The paediatrician feels that such a condition made Theo "incompatible with life".
In addition to this, there were slight issues around the top and bottom of his spine which meant some of the vertebrae were fused. The 20 week scan had shown some indication of this but hadn't been evident on subsequent scans.
The report concludes with a likely diagnosis of type II collagenopathy and Kniest and SEDC are both types of this disorder. Such a condition effects the connective tissue and clearly problems with the cartilage were quite prolific in Theo.
We discovered that samples from the post-mortem have already been analysed by Great Ormond Street Hospital in London. As conditions such as Theo's are so rare, there is a European group which gathers information and analyses it and Theo's samples have been sent to Amsterdam as well. He certainly is well travelled!
Once the results from Amsterdam have returned, we will be able to proceed with the genetic tests and we hope to get a genetics appointment fairly soon.
So, overall, another positive visit. Although difficult for us, it is reassuring to know that Theo would not have survived and therefore his little life ended quickly without needless suffering. We feel blessed that God, in his mercy, did not put us in a position where we had to make difficult decisions. We continue to be hopeful that this is just an isolated occurrence, though we still must wait for further results before we know anything for sure.
On a final note, we know that for many people as for us, 2007 has been a difficult and testing year. We take courage in the strength and resolve that has been demonstrated by so many of our friends in these hard times. We, like many people we know, acknowledge that the strength we have comes, not from ourselves, but from God.
How shall we look back? Naturally, with a great deal of sadness but also with joy because God is working out His plan in our lives. Something Clare wrote on Tonya's blog highlighted an interesting point for me. In the Bible, it talks about God using the things that are weak and seemingly nothing to promote His Gospel message. He does this so that no-one can boast about themselves but only about God.
Brothers, think of what you were when you were called. Not many of you were wise by human standards; not many were influential; not many were of noble birth. But God chose the foolish things of the world to shame the wise; God chose the weak things of the world to shame the strong. He chose the lowly things of this world and the despised things—and the things that are not—to nullify the things that are, so that no one may boast before him. It is because of him that you are in Christ Jesus, who has become for us wisdom from God—that is, our righteousness, holiness and redemption. Therefore, as it is written: "Let him who boasts boast in the Lord."
1 Corinthians 1 v26-31
Theo was certainly little and weak but, through him, many life's have been touched and more people have learnt something new about God than would have been achieved without him. So, in his short life, God used Theo for His glory just as He promises to use all of us if we let Him.
And looking forward to 2008? Faith in God gives us a hope for the future, just as the Bible promises.
"For I know the plans I have for you," declares the LORD, "plans to prosper you and not to harm you, plans to give you hope and a future."
Jeremiah 29 v11
This hope is not wishful thinking that things will turn out for the best. In fact, the Bible never promises that things will always be easy and go the way we want them to. What it does promise is that God is there with us every step of the way... that He has a plan that is glorifying to Him and that we have a part to play in it... that He loves us and whatever life on Earth puts our way, we have the promise of heaven to look forward to.
So the big question for 2008 is not "How will life turn out for me?" or "What will happen next?", though these are important questions. It is "How is God going to use me for His glory this year?" If this is a question you've never thought about before, think about it today. God wants to answer that question and, if you let Him, your life will never be the same again.
Happy New Year!
love,
Andy and Clare
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