View Full Version : Here we go again!

12th September 2007, 08:25 AM
Hi all
I took Cerys's brother Ethan to the docs yesterday for an ear infection. As I've said before, I was quite worried about his back as his shoulders stick out a lot and he has an exaggerated curve at the base of his spine.
Doctor agreed and said it looks like he has lordosis. He couldn't see any scoliosis but said he's not an expert and we need to get it checked out. So we're off to see Cerys's paediatrician which is better as he knows Cerys's history too.
Before Cerys's diagnosis, we would have freaked out, but seem to have taken this news in our stride. I've not mentioned it to him much as he knows his sister has to have a big op and I don't want him to worry that he will too. We will cross that bridge if we come to it.
Does anyone have experience of the 2 conditions in 1 family?? (scoli and lordosis)
He does also have some hearing loss like Cerys so we will mention it when we see the geneticist in a few weeks.
So here we go again!! I think I'll book a seat outside the x-ray department!! :D

12th September 2007, 09:58 AM
Book that seat early... they go fast. ;)

Wow, Cerys' case sounds so similar to mine! Even down to the level of the curve. Given the vertebral anomalies, there could be a genetic component to hers. If there is, then it's also possible that Ethan inherited it. Or perhaps the same environmental factor affected both of them while in utero. But hopefully, Ethan is fine and you're just being an especially attentive and concerned parent (cheers for that!).

Is her surgeon planning to use VEPTR for Cerys, or a fusion? Has her curve remained fairly stable as she's been growing? Good luck... *pokes siggy* I really hope you can put off her surgery for a long time. Especially if it turns out to be fusion. *frump*

12th September 2007, 09:16 PM
Hi jf
The cases do sound very similar and I asked our geneticist if it could be klippel feil but she dismissed it but that was before she had seen the x rays of her spine and her ct scan. We are due to see her again in a couple of weeks so I will mention it. They definitley think that it is genetic and the geneticist has noted how similar Ethan and Cerys are. I think thats why I was so aware of the problem in his back. I'm still hoping that it will be ok!!
We don't know yet what surgery they are planning - they just keep saying that it is rare and it will be a very difficult problem to manage. They are trying to wait until she is 5 (she is 4 in Jan) to give her more time to grow. Her curve has remained stable at about 30 degrees but I think that she's had a growth spurt since we last went.
It's nice to find someone with a similar curve who knows what it's all about. Do you have a natural fusion of the vertebra? Cerys has from c2 downwards that is naturally fused together to her mid thoracic area. The doctors can't really tell which vertebra she is fused to as it is a huge block of fusion and then a couple of hemivertebra below that.
Anyway, I've waffled enough, lovely to hear from you and hope to 'chat' soon
Ella x

12th September 2007, 10:18 PM
It's hard to tell what's going on with my spine now. I have a 30+ year old fusion marring the view in my xray. But the last good specialist I spoke to (Dr. Campbell... inventor of the Titanium Rib) thought he saw congenital fusing among some vertebrae below the operation site. He was able to easily point out the fused ribs. He wasn't sure if I was actually missing a vertebra or two, because it's such a mess where the fusion mass is.

I think Cerys is fortunate for the block vertebrae. It's probably why her curve has remained so stable at ~30 degrees as long as it has. As my signature line says, I had rapid progression in my infancy. Even with serial casting, I was being operated on before my first birthday. I wish I'd been born about two decades later so that my surgery could have been VEPTR instead of radical fusion.

Anyway, try not to stress too much about Ethan until you know more. And Cerys' prognosis is so much better than mine and look how well I'm doing! *twirls*

15th September 2007, 09:27 AM
Hi Ella

I'm sorry you're having to go through this again with Ethan. Erin is the only one i n our family with infantile scoli, but it's ideopathic, which is a completely different ball game. I'm hoping she will also be the only one, but time will tell on that one I guess.

Glad you're taking it in your stride. Hope you get an appointment soon. Let us know how it goes.

Take care
Andrea x

Amazed Jean
15th September 2007, 10:12 AM
Ella, I am so sorry that you got such bad news. Hang in there I'll send you some good thoughts and a few hugs.