|Posted by isabellasbigdreams on February 24, 2013 at 10:25 AM||comments (0)|
Spoke to our geneticist on Friday afternoon, after seeing us last December he passed Izzy's photos around his colleagues as although Izzy's clinically been diagnosed with RSS he thought she had another syndrome too & they all said they think she has Floating Harbour Syndrome too..
She will be tested for this now & she will also be put into the DDD study.
He stated that all this should've been done years ago .(don't I know it, It's so hard fighting all the time to get things done!).
I'm so glad I went to see Dr Stanhope last July as he was the one who got the genetics involved as our local consultants didn't bother.
Anyone wondering whether to go and see him DO he certainly kick started our NHS doctors into doing what should've been done a long time ago!
Floating Harbor Syndrome is very similar to RSS but even rarer with only 50 cases known worldwide!!
My beautiful girl is such a special unique child <3 her to pieces no matter what.
|Posted by isabellasbigdreams on February 20, 2013 at 11:50 AM||comments (0)|
|Posted by isabellasbigdreams on February 19, 2013 at 11:45 AM||comments (0)|
Well Izzy's had her 1st dose of growth hormone, very proud of my baby didn't cry said oweeee but was fine,
think I was more nervous than her!
Time to start breathing again, the nurse did it yesterday so it was my turn today on my own!
(Will have a community nurse with me watching)
Izzys height is 89.9cm and weight is 12.6kg (28lbs) which is exactly what she was for both back in October so no change in 4mths.
Here's hoping we see a change from now on...even if its just to her general health that would be great...
UPDATE...Well I managed to give Izzy her injection...It was very nerve wracking but I managed ok
Won't have the community nurse here tomorrow so fingers crossed i'm not too nervous then!
|Posted by isabellasbigdreams on February 7, 2013 at 3:50 PM||comments (0)|
Some good news,
Izzy will be starting on growth hormone on the 18th Feb :-)
She is also having to undergo an MRI scan to check her pituitary gland and hypothalamus to see if she has any issues with that as she is Growth Hormone Deficient...
She is also being tested for other genetic abnormalities/imprinting disorders etc,
the results of which can take up to two years!
But at least we are getting somewhere at last! :-)
|Posted by isabellasbigdreams on February 7, 2013 at 3:45 PM||comments (0)|
Just had a letter regarding Izzy's stim test,
She has show a sub optimal response (That means low levels although no dr spoken to me yet!)
She has been recommended to go on Norditropin Simplex 3.3mg per ml.1.5ml cartridge which should last 15 days.
We are still awaiting for the bloods from May/Sept really hoping they come back soon!
Scared now at the thought of giving GH injections I know that once myself and Izzy get used to it it will be ok,
but having to do it for the next 14 years and maybe only getting a slight difference in growth is the main concern.
|Posted by isabellasbigdreams on November 4, 2012 at 1:45 PM||comments (0)|
Izzy in her new buggy very kindly donated to us by Anne Marie Once again, Thank you so much!!
|Posted by isabellasbigdreams on November 2, 2012 at 10:05 AM||comments (0)|
On Wednesday 31st Oct 2012 I held a fundraiser for Izzy.
The night was a great deal of fun for adults and children alike!
We raised a total of £66 at the event and £22.40 from a wonderful lady who did a whip around her friends,
neighbours and family and today 2nd Nov her Aunt has popped over to donate £20 too..
So final total so far raised is £108.40 Which is wonderful...
A big thank you once again to all who braved the wind and rain to attend
and also to Elaine for raising money and donating raffle prizes
and also for having my other 2 girls during the day (31st) so I had more time to get everything sorted for the fundraiser :-)
Also a big thank you to all the businesses and people who donated prizes for the raffle which was a great success!!
Pictures from the night are in the photo tab under Izzy's Fancy Dress Fundraiser.
To anyone else who would like to donate towards Izzy's fund you can do so via the donate button on here or through easyfundraising (type in search cause box...isabella's big dreams) or via bank transfer details:
Acc number: 91535161
sort code: 402321
Thank you. Your continued support means so much
|Posted by isabellasbigdreams on October 31, 2012 at 10:20 AM||comments (0)|
Last Friday 25th October we headed off to Northampton for the annual Child growth foundation convention.
The convention was early Saturday morning.
Izzy and her sisters were in the creche which they loved,
it was well organised and they were superb!!
Made the day less stressful not having to worry about them :-)
There were speakers from Southampton and Birmingham hospitals (Geneticists and Endocrinologists)
who were very informative.
We met lots of families who also had children with RSS/IUGR/SGA
but unfortunately didn't have time to chat to them all as Izzy was very poorly for the whole weekend...
I have added a couple of pictures that I took of izzy with her new (and old) friends to the photo gallery,
Looking forward to next years event now :-)
|Posted by isabellasbigdreams on October 4, 2012 at 7:20 PM||comments (0)|
Today Thursday 4th October, Izzy's story is in Chat Magazine Highlighting Russell Silver Syndrome and the struggle we have had.
A picture of the article is on the photo page.