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!
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6 comments:
I am glad you finally have some news! Thank you for sharing this with us!
Theo is special!
I will pray for patience, quick resolve and romantic music when it is needed. Wink, Wink.
Of coarse, details of the later, you can keep to yourselves, but we want to know the results!
You both are both handling the loss of your precious Theo with dignity, grace and strength. I am inspired when I ready your postings. I have been very effected as many others have been, by your story. I hope the post mortem gives you a small sense of peace and closure. Theo will never truly be gone. The manner in which is story has touched so many lives makes him immortal. Take Care and I think of you two often.
Cat
Answers! There are never enough are there? I was glad to read that you had finally heard something. I am praying for you daily that you will be able to have healthy babies. Those children will be so fortunate to have a special little angel watching over them. Please keep me updated. I haven't heard back from you since my last email and I am hoping I didn't upset you. Much love and prayers to you both!
Avery's mom
You have certainly not upset me Candi. On the contrary, you have comforted and encouraged me!
Thank you for sharing your experience with beautiful baby Avery with me. Us mummies must stick together!
Love Clare xx
The support network that has been established around all of our precious babies is just astounding to me. Avery, Theo, Bryan, Owen V, Cole, our own Owen, and the starting point for us all....Knoah. Not to mention all of the others I may have neglected to name. As a grandma I never anticipated this sort of a journey. All of my prayers and thoughts remain with all of these babies but I hold a special place in my heart for Avery and for Theo and will keep them in my memory. The internet is an awesome tool.
Ooops. Forgot to sign my last comment!
Jennifer/ Owen's grandma/Cat's mom
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