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.

Eye appt + Consultant

Yesterday we went to Sutton Eye Hospital for a check- up. Kate is now 2 1/2 and it's over a year since her operation (frontal orbital remodelling) at GOSH for simple unilateral left coronal craniosynostosis. 

Again, Kate wouldn't let the opthalmologist patch her eye but they (we had a student/ trainee in as well) were successful with glasses that have blacked-out one side, then another pair with the other.  

After the prism test, the lady mentioned to the trainee a slight exphoria (tendency of one eye to deviate outward) but that it recovered it very quickly.  

Kate seemed to be slightly faster to see the long-distant pictures quicker with HER left eye than the other and they said the consultant would look into that after she'd had the drops.  The rest of the tests I've assumed we're within a normal range & not commented on. 

I wasn't sure how she'd be with having drops at this age & couldn't remember the last time they did that, must have been 6 mths ago or longer. Anyway, she wasn't too bad & the consultant said she couldn't see any reason for the slight difference between eyes. Her focus appears to be the same in both eyes. 

I asked about the likelihood of future problems with Cranio cases, and she said that any eye problems would normally have presented themselves by now. I pushed for more and she just said that on a scale of 1 to 10 Kate's a 1 on her level of concern. 

They'll still keep checking though. Next appt is in 4 months, Sept 2014, and they'll do the other eye either with patching or glasses first next time. I think to see if she just 'appeared' to see the pictures faster with the second eye because she knew what they were and had seen then before. 

So, all this is all good from my point of view. Still no sign of any eye problems. 

Here's a recent photo of the girls, now 6 and 2 1/2. 

Any questions from you, especially if you're following because you're on a similar journey, please do just get in touch.  Wendy 

Letter above dated 29th May 2014

A year on...

It's a year ago since Kate's operation & it's only the date that is a reminder. 

You wouldn't know, although today Kate asked for a pony tail & I can easily see her scar when her hair is up at the moment.  I can see the slight assymetry in her face but she's a darling & most people say they don't or can't see it. 

We had a lovely day out today as it was a warm day & Daddy and sister are off work/school for Easter.  

Our next eye hospital appoiment (we go every 3 months) is with the Consultant in May. 

Letter from eye hospital to GOSH

Just received this week a copy of a letter from the consultant at the eye hospital to Dr Britto, the consultant & one of Kate's surgeons at Great Ormond Street. 

We have appointments for Feb and May with the eye hospital through already. 

Eye Appointment, 2 year check & general update

Recap

Kate was born 13 Oct 2011 and after quite a few appointments with various people she was diagnosed in Nov 2012 at Great Ormond Street Hospital (GOSH), London with left unicoronal craniosynostosis - premature fusion of the coronal suture of a skull bone - and had the required fronto orbital remodelling surgery to correct this condition at GOSH on 17th April 2013.  She was 18 months old.  The surgery was basically taking the skull apart right across the top of her head (ear to ear) and undoing the fused bone and reshaping her forehead and eye socket/s.  The surgery was about 4 hours and we were in GOSH for 5 long days for recovery.


I wanted to share these pictures, especially for those parents/carers following this blog who are/will be/have gone through something similar.  Though we were amazed at the tiny incision and distinct lack of hair removal across her skull after the surgery, this has widened as she has grown and is becoming actually more apparent, though her hair is also growing and thickening.

Also, I wanted parents to be aware, that she still had large bits of scab still attached until November and a couple of smaller bits have only just come off - 7/8 months post-surgery!

Eye Appointment

In December 2013 Kate had appointment at the local eye Hospital in Sutton for the eye check with optometrist and with the Consultant, the one who originally referred us to GOSH way back in 2012.

This time, as her speech has developed a lot (she was 2 in October) she was able to do even more tests - naming pictures & pointing out holograms etc with the Optometrist.  She totally refused to do any kind of patching, to test her individual eyes though.  

I showed the letter from the surgeon from GOSH who had said that although it had been reported by me that a squint had been ruled out, that this really should be confirmed as most cases of unicoronal craniosynostosis have some excycloroation of the globe (rotation of eye/socket).  The optometrist talked to me about this and said that Kate's very slight and not at all worrying (in fact her own is worse and not corrected at al) tendency is for one of her eyes to drift outwards.  Most people don't have dead straight eyes, like most people don't have 20:20 vision, and that it is nothing to worry about.

Most pleasing was that she played ball with the consultant who, this time, was able to check all the parts at the back of the eye with her lights and weird head-gear!  She was unable to see anything last time and had a good look and confirmed that she was completely happy with what she had seen and that check-ups will continue because of her growth at 3 months for general tests and 6 months for both her and the ophthalmologists.   Again, I showed her the letter from GOSH about the squint issue and she reassured me that this seems to not be the case, that Kate doesn't have a squint and repeated what the other lady had said.  

We have appointments already through for February and May 2014 at the Eye Hospital (Sutton, Surrey).



Normal 2 year check

I also got a letter to have Kate's normal 2 year check in December.   When we walked in Kate immediately took to playing and interacting with the toys laid out and, I got the impression, immediately ticked all the boxes for the lady we saw as to her abilities!   I took all the consultant letters off the Red Book and realised that that meant the lady would be blissfully unaware of her surgery and condition.   There is NOTHING in her red baby record book about her craniosynostosis!   So I had to explain all of that to her.   She was amazed at the scar and surgery and had not heard of it before.

A New Year - 2014

Last night, whilst brushing Kate's teeth, I got that reminder.  Kate's face is still not totally straight and it's normally only then, when looking at her in the mirror I see it clearly.  Others don't notice and normally looking at her straight I don't either but it is there, the asymmetry.  Nikki, her older sister, has commented on it too when looking at her in a mirror.

Today is New Year's day 2014 and it's such a different new year for me.  Last year we didn't go out, I think I was feeling ill and Nikki had chickenpox!  I wrote my review of 2012 on my business blog.  I didn't mention Kate's condition in that as we were keeping it private at that time.   This year, I've spent the whole day recovering from our fun evening with friends, thanks to my Mum & Dad for babysitting and those good friends for their company, support and more over the last year.  I spent quite a lot of time with my girls on the sofa today and Nikki declared it a special hugging day.  What a lovely way to spend the first day of 2014.

If you have any questions at all, please don't hesitate to contact me directly in any way from my contact page.