New Diagnosis

[Guest guest]

HI,

This is my first time posting. We were just given the diagnosis

yesterday that Sydney (22 months) has RSS. Sydney is an identical

twin and her sister Leah is unaffected. They have a big sister

Charlotte who will turn 4 later in February.

Sydney's struggle began very early when we discovered at about 26

weeks that she was much smaller than her twin sister. The doctors

became quite worried at 27 weeks and I was admitted into the

hospital where I had at least one ultrasound, sometimes two a day.

I was able to carry the girls to 33 weeks (6 weeks in the hospital

with a 2 year old at home!) and the doctors delivered when the blood

flow reversed. Everyone assumed that we had twin to twin

transfusion syndrome or placenta discordance. Sydney was 2p, 11 oz

and 41 centimeters at birth. Her sister was 4p, 8 oz. Sydney was

in the NICU for 6 weeks and Leah just two. Sydney was gaining

weight very slowly although she breast feed from about week two on.

We just could never get much in her at once.

Her gross motor skills were very delayed and by about 6 months

everyone was starting to get concerned. She had several tests done

but nothing was showing up. At first the doctors felt that she had

Prader Willi Sydrome but the tests all came back fine.

She went through her most difficult period at 10-12 months. She was

actually diagnosed Failure to Thrive and it looked like we were

heading towards a g-tube. However, as a last resort our doctor

suggested domperidone and it worked wonders for her. She finally

got back on her curve (even though it was well below the 3rd

percentile) and started gaining some weight.

When we finally got her bone age tests results back showing severe

delay (3-6 month age at 18 months) the geneticist made the diagnosis

of RSS.

Sydney is just finally walking this month with the help of weekly PT

and her speech is really coming along over the past few months. She

is much happier now that she can move around like her sisters and

gets much less frustrated. She never did crawl so this is real

freedom for her.

Sydney is still wearing a size one shoe, making it very difficult to

find walking shoes for her. (If anyone has any suggestions, I would

love to find a source for very small shoes.)

At 22 months, Sydney is 19 pounds and 74 centimeters. I am sure

that we will have many appointments over the next few months and at

this point my husband and I are just trying to gather as much

information as possible. We live just outside of Toronto, Canada.