Isabella's Big Dreams

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Isabella's Journey From Pregnancy to Four Years Old

Isabella's pregnancy was an anxious one; I had lost twins before her and was naturally worried.

Everything was going well up until the 20 week scan when I was told that my dates were wrong 

(due to Izzy's size) and to come back next week for another scan.

I was also told that she had an echogenic bowel (I still to this day don't know what that is or why she had it)

A week went by and I returned for the scan where I was told that they couldn't see the 4 ventricles of her heart 

(Because of her having the echogenic bowel too I was tested for cmv virus and also Cystic Fibrosis, which came back negative) I would have to go to Cardiff to the University Hospital Of Wales to have another scan.

Two weeks went by before our appointment and then we were told that the 4 ventricles were visible (a big relief) 

but they were the wrong way around and would need operating on at birth!

To say the least I wasn't happy that something completely different had been picked up and so asked to see another doctor who could scan me in more depth and explain what was happening....

We had to wait around all day and eventually saw another doctor who reassured me everything was going to be fine! 

He scanned me and to my relief I could hear the heartbeat and he said "that's a perfect heart, nothing wrong at all"  

I was relieved to say the least but angry that I was made to think that my baby was seriously ill inside me and there was nothing I could do.

I wasn't happy with the NHS before this; I certainly wasn't going to get any happier after either! 

My midwife (a wonderful lady who delivered my 8 year old daughter at home) I didn't see again after my 9 week book in, 

(I just assumed the hospital was keeping everyone in the loop)

Anyway I was being scanned every four weeks or so from 24 weeks and having bloods taken too as I am rhesus negative

At between 28-30 weeks Izzy weighed 5lb she stayed this weight right up till birth,.

I was taken in at 37 weeks for induction (something which usually only takes a few days, my son who was my first born was induced on the Sunday and I had him on Tuesday) so I knew soon I would have my baby with me. 

My other children were excited at having their brother or sister home in time for the school holidays 

(whit week)

Unfortunately the induction didn't work and by the Wednesday I had asked for a C-section

 (as I wasn't feeling her move much and didn't want to lose another baby) 

A doctor came in and said everything is fine you will deliver very quickly once your waters are broken 

(I delivered my previous 2 in 10 minutes!) 

he also said that a C-section is very risky and I might never walk again or get a really bad infection which could end up with me having to use a colostomy bag forever.

Let's say he put me off the idea! 

The next night my midwife walked in wondering what I was doing there, she still thought I was having a home birth!! 

Obviously no communication between hospital and midwives!

Anyway by Sunday, one week later I had still not dilated or had any contractions ,

so they took me down to delivery to break my waters which was to no avail. 

I was then told I'd need a C-section 

(this after being told all the things that could go wrong!!) 

but they were busy and couldn't fit me in until Thursday at the least! 

I was livid there was no way they were leaving me that long especially as my baby was not growing! 

I managed to get them to put me down as an emergency case and thankfully I gave birth to Isabella Emily Rose at 7.45pm that night.

My mum was in theatre with me and when the delivered her about 100 or so paediatricians came flooding into theatre.

Izzy was not crying and I started to panic.

Those minutes seemed like hours but eventually all wrapped up in a blanket and in my mums arms was this tiny little bundle no bigger than my fingers to my wrist, my Isabella, she was so tiny but so beautiful,

and that was it she was gone, taken to SCBU as her blood sugar levels were low.

She weighed in at 5lb 1oz.

From then on it's been a constant struggle she didn't take much milk at feeding time and I had to wake her every 3 hours for milk, and she gagged a lot. 

She struggles with solid food (had to put it back till she was 1) and finds it difficult taking lumpy foods 

(which we now know is part of the syndrome, RSS children have a lot of issues with feeding) 

She sweats profusely especially at night (even in cold weather)

She is delayed in lots of things, she never crawled, she only sat up at 10 months, she didn't start walking until last February (2011) when she was nearly 3 years old.

She cannot run or jump and has a lot of other issues which are due to the syndrome we now know she has.

For three and a half years I put faith in our consultant, every time I asked why isn't she growing? 

He would say "she'll catch up eventually"

Her trousers today still fit her that she started wearing in January 2009...

At an appointment with her physio last November I asked did she think Izzy had some sort of syndrome, 

something which would explain her difficulties and lack of growth.

She said "I think she could have something called Stickler Syndrome" so armed with this information I came home and spent the night on Google.

I typed in Stickler syndrome and images associated with that, but decided that Izzy didn't have that from the images I saw.

So I carried on searching until I came across a syndrome called Russell Silver Syndrome and looking at the images a little one stood out.

He or she could've been my Izzy!


From that moment on I went on forums and Facebook and found a few people whose children had RSS and emailed them about Izzy and sent pictures, they came back to me,

 "Yes I think Izzy has RSS"

I was so pleased but angry that if this is what my daughter has WHY had I diagnosed her and not her consultant!

In January this year (2012) I changed paediatricians and had written to our new one that I thought Izzy had RSS.

When we saw him he confirmed with me that he thought so too.

I was so happy that I now had a professional diagnose her with what I thought but still mega angry that I had to do that in the first place!

Anyway we got an appointment to see an endocrinologist who specialises in growth.

He looked at Izzy from a distance and said I can't say that she has RSS but I can't say she doesn't, 

although she doesn't have a curved pinkie or asymmetry like RSS children have 

(now I know that not all RSS children have all the characteristics so this didn't sit well with me)

He also said that she needed testing for growth hormone deficiency which would require her fasting from the night before and then having insulin put in her to lower her blood sugar to check her growth hormone levels.

I said I wasn't happy about this as any child with RSS you have to maintain good blood sugar levels and by fasting I could get Izzy into a coma.

His response was "if that happens then we with give her glucose to bring her round"

So reassuring!

I managed to find a wonderful site which is on the links page, on which had a Doctor in America Called Dr Harbison 

(she is one of only 3 specialists who have specialised in RSS in the world!, the others being a geneticist in Paris, Dr Nechine and also Dr Stanhope who is based in London)

I thought I need answers, definite ones and thought that emailing her might help both me and Izzy.

I sent a letter about Izzy and also photo's too, she emailed me back within hours and said 

"Yes I think your child has RSS" 

She also included in her email a direct link to Dr Nechine in Paris who also emailed me back the same thing.

I then decided to email Dr Stanhope who said he could help me and to make an appointment.

Dr Stanhope is a private Doctor and to see him costs £200.

Money wasn't an object to me, I just wanted my daughter to receive the care she needed!

You can read all about the appointment with Dr Stanhope in the news section, suffice to say it was an amazing experience to see the man at his work.

He diagnosed Izzy with RSS like I had thought all along and thinks she might have mupd7 

(this is one of 2 types of genetic sides of RSS the other being 11p15)

Only 5-10% of all RSS cases are mupd7 with 11p15 being 50-60% the others are just clinically diagnosed.

He also said she does have a curved pinkie and asymmetry 

(he measured her limbs with her lying down unlike the endo) 

He also said that she isn't growth hormone deficient but will benefit greatly from growth hormone therapy which involves me injecting her once a day until she is 18 years old.

This will not only help her grow but strengthen her body and muscle tone.

To anyone whose child isn't growing properly please get them seen asap, and preferably by someone who is a growth specialist.

There are a lot of different growth disorders out there, and dwarfisms too.

What Izzy has is very rare (as far as we are aware Izzy is the only one in Wales with RSS)

 Primordial dwarfism or RSS in particular effects only 1 in every 100-150,000 births! 

More awareness is needed and more doctors need to specialise in growth disorders and rare syndromes.

I should not have diagnosed my daughter and I hope that no one else will find themselves in my position! 

Please check out the links to the pages that can help if you think your child has a growth disorder. 

And if you have a child that is RSS or small in stature/IUGR (intrauterine growth retardation) 

please join the MAGIC foundation and you will receive the BEST guidebook on RSS/SGA that has everything in.

(Doctors Harbison, Netchine and Stanhope have all contributed to it)

Thank you. 

(We now know that there are two other children in Wales with RSS and we have met with Ieuan and his mum & nan and also met with Mari's mum and nan at the CGF convention last year)