The results

Firstly, sorry it's been a while since I last posted anything. Both our jobs have been very hectic over the last month or so and it's been hard to find time to fit everything in. Thank you to everyone who faithfully checks the site!

We received our genetic results this week and they were not as positive as we had hoped. Our geneticist told us that they had found the genetic "change" in Theo that they were expecting. This confirms the Kniest diagnosis reported by the post mortem. Having tested my blood, they also found the same genetic change in some of my blood cells. This means that I exhibit mosaicism in these cells - some of them are regular and some are dwarf!

It is safe to assume that at least some of my sperm cells are affected in the same way as this is how Theo got the condition. In the worst case scenario, all of them will be affected and this has led the geneticist to give us a 50% chance of recurrence. Although, potentially the risk could be lower than this, it is very difficult to determine what percentage of sperm cells are affected so they have to go with the worst case scenario.

The presence of a genetic marker means that pre-natal testing will be possible at about 11 weeks. At the moment, Clare and I are still coming to terms with the situation and so have no clear idea of what we are going to do next.

Prior to getting the news, we had already decided that it would be wise to seek the counsel of a couple in our church to help us along the way. In addition to this, we had also considered that professional counselling might be a good idea too. Now that we have the results, we are definitely going to proceed with both of these.

We are also planning to see the genetic counsellor again, once the dust has settled, to ask him further questions about our options.

Sorry to have to break this news to everyone via the blog. Both Clare and I really value your continued prayer and support!

One step closer

Finally, I have some more news for you!

I had a phone call from our geneticist yesterday who told me that he had got the results of my x-rays back from Great Ormond Street. The good news is that they have said that they can't find any link between me and Theo! You may remember that when we first went to see the geneticist, he was concerned that I exhibited some of the same issues as Theo (shortness, wonky legs, arthritis, cloth ear, etc). He had thought there might be the possibility that I had mosaicism. If I did, it could potentially increase the risk that we could have another child with the same condition.

It seems that this is not the case and so hopefully the chances of recurrence are greatly reduced. We have yet to see him officially to get the full details and we still have to wait for the results of Theo's genetic tests to come back. Nevertheless, this is a very positive sign and gives us hope that there is light at the end of the tunnel.

The geneticist is still chasing Theo's genetic results to see if they're finished so as soon as we know anything, I'll let you all know.

Thanks to you all for your continued prayer and support!

Because of the LORD's great love we are not consumed, for his compassions never fail. They are new every morning; great is your faithfulness. I say to myself, "The LORD is my portion; therefore I will wait for him." The LORD is good to those whose hope is in him, to the one who seeks him; it is good to wait quietly for the salvation of the LORD.
Lamentations 3 22-26

A picture paints a thousand words!

A while back, I posted the pictures Clare took of Southwold on the day we scattered Theo's ashes. About the same time, we went to visit my parents and Clare admired the "cascade" sunset print they have on the wall in their lounge. My mother, being the clever woman that she is, put two and two together and came up with an excellent idea for Clare's Christmas present using the Southwold photo. As a DIY-phobe, I had to wait for help from Clare's dad before I could get round to hanging it. The result is here:


It now takes pride of place in our lounge and is a lovely reminder of our boy!

In other news, I went to the hospital today to have a skeletal survey done. They x-rayed my legs, spine, arms, ankle and pelvis. The x-rays will be sent off to Great Ormond Street so that they can determine whether I have a mild form of the condition they think Theo had. This will hopefully inform us better about the likelihood of it happening again. I imagine it will take quite a while for the results to come back so I will post any news when we get it.

So, I'm trying to keep my word about posting more often! In the next entry, Clare will post some more pictures of Theo.

Like Father Like Son

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!

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!