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!

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

Happy Christmas!

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

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!

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

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!

The final farewell

Today we went to Southwold to scatter Theo's ashes. Southwold is a special place for me and Clare. We do a beach mission there every year; I proposed to Clare there and we spend our anniversary there every year.

It was nearly sunset when we arrived and very cold at the end of the pier! We had each written a letter to Theo which we read aloud. I read some Bible verses and Clare said a prayer before we scattered Theo's ashes out to sea. The wind was strong and the ashes flew at great speed across the ocean.

Although the occasion was sad for both of us, we felt a sense of relief that Theo had finally been laid to rest.

God blessed the proceedings by supplying us with this beautiful sunset.

The Waiting Game

The next major milestone in our lives is getting the post-mortem results. These will have a large and potentially challenging effect on how we will proceed with starting a family again. Whilst Clare was at the hospital this week having physio on her knee, she asked to see the paediatrician who treated Theo. He very obligingly took time out to see her but it looks like we might have to wait slightly longer than we envisaged.

Originally, we were told the post-mortem would take 4 - 6 weeks and that time is almost up. The doctor has said that, because of the genetic testing, we may have to wait a further month before we hear anything.

This is a little disheartening, but we trust in God's plan and that his timing is best. As soon as we know anything, we will definitely post here.

On a much more lovely note, Clare decided she would ring Tonya on Knoah's birthday yesterday. Tonya was most surprised to hear from us! We could hear Knoah gurgling happily away in the background while we both chatted to Tonya. She is every bit as lovely and caring in person as she is on her blog and it certainly made our evening.

During the phone call, Tonya commented on how amazing the human spirit is amongst the small group of people we know that share the same kind of experiences. I am so pleased that, despite not having our own little person, the bond with the people we have met is not growing weaker, but deepening.

"So, how are you both doing?"

It's a calendar month and two days since Theo's birth and we've heard that loving and interested question a lot during that time. It is comforting to know that so many people are still thinking about us and praying for us. Once again, thanks to everyone for their support!

So, how are we dong? Not bad... Clare is healing very well from the Cesarean and is already very active. She's filling her time making our lovely house even nicer and buying and selling things on Ebay. This has had dangerous implications for my bank balance and anything that's not nailed down in the house. The sliver lining to all this is that I get the feeling I will get more birthday presents than I could possibly merit!

So, how are we really doing? We have good days and bad days. It's a kind of sadness that's hard to quantify. It doesn't seem to be about anything particularly, such as seeing other babies or thinking about an empty nursery (although such things can trigger it). It just descends like a blanket and, unlike other things that can be fixed, it just stays there until it decides to leave. For Clare, it's worse at night-time. For me it comes less often.

Despite this, We are slowly getting back to normal I think. I'm back at work now and Clare is helping her brother with his valeting business so there are things to fill our days. Generally we remain positive and upbeat and we know that kind of strength must come from God because we certainly couldn't manage it by ourselves.

I'm sorry it's been a while between posts again. Before, this blog had a definite purpose and every other person I talk to seems to have read it. Now, I'm not quite so sure what to write. Although I know that everyone is interested in the results of the post mortem and any subsequent developments, there doesn't seem to be that much to say in between.

So, until I find a new direction for the blog, the posts will probably remain infrequent. If you want to be notified of when new posts appear on the blog to save you keep checking, please send your email address to littledungey@hotmail.co.uk and I will send you an email whenever anything new comes up. We would also ask you to keep praying for the post mortem and genetic results - that they would be clear and enable us to make decisions for our future.

Thanks once again to everyone out there who has supported us so faithfully! We couldn't have done it without you.

Hot off the press!

Apologies to everyone for not posting sooner. We recently had an interview with our local paper, the Ipswich Evening Star and the result is below.

Baby loss parents thank NHS staff

Evening Star
02 November 2007 | 14:46

AN IPSWICH couple whose newborn son died soon after birth today thanked doctors who battled for five hours to try to save him.

Andy and Clare Dungey are today coming to terms with the loss of baby Theodore, but took time to thank the NHS health professionals for their care.

Theodore, who had dwarfism, died in Mrs Dungey's arms after being born with breathing difficulties. But despite their loss, the couple today said thank you to staff at Ipswich Hospital.

Mrs Dungey, a teacher in Woodbridge, said: “We saw how hard they were working to save him and we know they couldn't have done anymore.

“One of the worst things with grief must be thinking 'if only' but there's no part of us which thinks if only they'd tried that.

“Dr Matthew James the paediatrician told us Theo mattered, and even when it looked like there was no hope he said he wanted to try one last thing. That's what we wanted to hear, to know they did everything possible.”

The dwarfism was diagnosed early in the pregnancy, but although they knew respiratory problems were a risk, there was no way of knowing how serious they were.

Mr Dungey, a BT worker, said: “Theodore would have had a poor quality of life so if getting the tube in had been successful, I don't know if it would've been best.

“We didn't want to bring a child into the world if they were going to suffer.”

Mrs Dungey was induced on October 10 and had a caesarean section. Theodore appeared well until he was lifted out and stopped breathing.

He was able to breathe for a short while at a time, but doctors could not put a ventilation tube in to sustain his breathing because of the unusual anatomy of his throat.

Mrs Dungey said: “He wasn't with us for very long but we feel his life was for a reason.

“We are Christians and know he was meant to be in our lives. He gave us an amazing experience and opened our eyes to dwarfism.

“We think about what he brought us rather than just the loss.”

Mr and Mrs Dungey, of Ditchingham Grove, also thanked other hospital staff who helped them, including those from the midwifery, physiotherapy and registration suite departments, and the funeral directors.

The couple, both 28, were allowed to watch on as the doctors treated Theodore, and when doctors stopped treatment, held him for around five minutes before he died.

They have written a blog about their experience at http://littledungey.blogspot.com/

A funeral service was held at Colchester Road Baptist Church and Theodore was cremated. Mr and Mrs Dungey are hoping to scatter his ashes at Southwold, where they got engaged.

N Do you want to thank hospital staff? Write to Your Letters, Evening Star, 30 Lower Brook Street, Ipswich, IP4 1AN, or e-mail eveningstarletters@eveningstar.co.uk

We wrote a letter to them initially because we wanted to let them know about how excellent the hospital had been. They were interested in our story and decided to write an article about it. The article even mentions this blog and hopefully this will bring some of the issues and adventures we've faced to a new audience.