Reply from Genetics

Response to my email -

Thank you for getting in touch. Since meeting you at the craniofacial appointment, we have testing underway on Kate's DNA sample looking for the commonly known craniosynostosis genes. It can take a couple of months for all of these tests to come through. 

 

In the meantime, I will arrange for Kate to be referred to Dr LW, who is the genetics consultant that specialises in craniofacial patients. Once all the results are back we will write to you if we don't already have an appointment scheduled to see you. We will also arrange for your blood tests (if necessary) at that time.

 

Please feel free to get in touch if you have any further queries or concerns.

2 year Post Op appointment at GOSH

Those of you paying attention will have noticed I didn't post in August. That's because the 2 year post-op appointment was cancelled, and after much re-arranging, we ended up going on 29th October 2015.   We took big sister as it was half-term and Daddy also took the day off too.  We went to the British Museum to look at some of the Roman artifacts and meet up with Grandad who works there, & then headed to Great Ormond Street Hospital, via Coram Fields (play area) just the back of the hospital.

We were approached whilst waiting by the Clinical Genetics team for the first time. The lady explained that participation in the genetic study of craniosynososis should have been discussed around the time of surgery and if we were acceptable to it, she could have had bloods taken then, but somehow it didn't happen. So we discussed with her the options and participating.

We are keen to assist in the research to identify genetic causes and also perhaps give Kate reassurance if/when she wants to have kids of whether/how likely it might be for her to pass the condition on, so we agreed for her to give blood which was arranged there & then, and around our original appointment. They put on cream to numb the pain from the insertion which takes 30-40mins to work.  She was a star and made the most fuss about removing the plasters, and didn't feel them take blood even though I was holding her & we had an additional nurse distracting her with a book just in case!  

I think they might come to us depending on the results they get from her anyway, but just to be sure I am going to email the genetics lady as there are other factors from the parents that can affect the genetics, in case they want blood from us too.

At the 2 year post-op appointment we saw a lady this time who wasn't involved in Kate's pre-op or surgery.  She was happy with Kate's look and recovery though agreed that there is a slight skew in her face, that I still am aware of.  She advised that that there would be potential for reconstructive rhinoplasty (that's a nose job to most people!) to align her,  possibly around teenage years if she feels it necessary.   That was the first time that was mentioned.   It would not be classed as cosmetic due to her craniosynostosis, so considered as due to the craniosynostsis, a medical condition & covered on the NHS.

I asked if she had had the operation sooner, i.e. when she was younger, and therefore there had been less time for the asymmetry growth to continue, that this could have prevented this skew.   She said that they prefer to do coronal craniosynostosis cases between 15-18 months because if done earlier they tend not to work, and that cases where the surgery had been performed earlier in other countries, that they were having to re-do the surgery.  How awful!

She said they'll probably see Kate next when she is 6 - so 2 years time.

We were also asked to go to Clinical Photography for post-op photos and agreed for photos being made available for teaching of healthcare professionals & medical records.  Kate was an absolute star, doing exactly as instructed for the angles of photos they wanted to get.

Kate turned four a couple of weeks before the appointment and is as bright and cheery as ever.   She now understands that she had a big operation on her head in the hospital in London, though no actual recollection of it, of course.

Luckily, most of her memory of experiences at hospital have been good and we always keep up-beat about going there, so she almost looks forward to it!   On returning home I found we had received her next eye appointment date for February locally.  I expect we will see the consultant as well then, as have the normal eye-testing.

Kate started a new nursery in September and has settled in well.  This pic is a recent one I like of her after filling the party bags and wrapping pass the parcel for her 4th Birthday party.

Next update will be after Feb 2016 eye appointment.

2 years post-op

Today is 2 years post Kate's operation for unilateral, coronal craniosynostotis at Great Ormond Street Hospital, London.   She had the op when she was 18 months old, after being diagnosed at about 13 months.  The incorrectly fused bone was 'undone' and her skull and eye socket remodelled.

Really, we've gone through the journey and a month or so after the operation felt we were out the other end of the main ordeal of it all. I feel that we now know Kate is, well, seems to us and medically to be completely ok and all the post-op appointments have instilled this belief for me.

But, it's not something that you can completely forget about.  For those of you who are going or are on the journey, then yes, after the initial recovery period, you can (kind of) forget about it.  If your op goes/has gone well and post op appointments and follow ups show no signs of problems.
The continuing appointments after are because they're just being cautious, in my opinion.

Obviously, eye-testing a baby or 18 month old isn't easy, and I can tell you it still isn't at three and a half!  The last appointment was a few weeks back and we weren't sure if she really couldn't see with one eye or was 'playing games' with us.  She was messing about a bit.  Our next appointment is in September and she'll be almost 4 by then, so hopefully she'll play game.  Until now, all the eye appointments haven't showed any issues and the consultant was pretty sure if there was going to be a problem, it would have been detected by now.

Day to day, after the op, as things got back to normal I've stopped 'thinking' about it and the times I do think about it obviously have become less and less.  As our eye hospital appointments have got further apart it becomes less of a 'thing' in my mind too.  But, the scar is a constant reminder.  Sometimes when I tie her hair up I really notice it.  Sometimes when I don't tie her hair up and the wind blows it a certain way, it parts at the scar, revealing it.

Post-op - scar 2014 (looks the same now really)

I'm not sure how much other people notice it, but I do. I also notice the slight skew in her face and difference in eye-sockets still, especially in some photos and in the mirror, but 'us humans' don't have symmetrical faces I really don't think other people do.

Photo pre-op when she was about 13 months

Recent photo from 2015

I remember how we warned people about the scar, that she would have a bit of hair missing right over her head and possibly be able to see the scab/scar and stitches after the operation. But actually that was so thin post-op that most people didn't notice it at all, as it was hidden by her hair and especially as the swelling and bruised eyes were so bad- THAT is what everyone noticed and couldn't help commenting on!

Post-op scar & stitches 2013

Post-op swelling & bruising 2013

Anyway, the point of the up-date is to just let you know what a gorgeous, happy girl Kate is and that everything is good and she is a wonderful, cheery and bright three year old.  If you're going through this and want to know anything, then please feel free to contact me to ask any kinds of questions.

Kate's 2 year post-op appointment at Great Ormond Street isn't actually until August 2015, so I'll post again then.

This is us today... we had a lovely day at singing class and met with friends for lunch and a play-date before collecting her big sister from school.  I checked with her before bed and she remembers nothing of the operation or the swollen eyes or anything at all.