Living with a Child with Russel Silver Syndrome my story

[Guest guest]

Hi! It is nice to eventialy be able to communicate about my child's

condition. was born on 10 October 1992 at a birth weight of

900 grams and 52cm long. She was born dismenture(small for date

baby), and looked horible I was disapointed, because here I had this

pink, pealing very skinney little baby.(In all I was acused of being a

alcoholic and or a chain-smoker to give reason for my childs birth

condition.)

was hospitalised for 2 and 1/2 months in an icubator in a

general hospital facility. She was tube fed and did not move at all

by herself. Luckely I am a registred nurse and could at least give

her the tube feeds. Althoug I was not allowed to cuddle her or pick

her up at all.

At her first week she had a elevated temparature of 40degrees, and I

was shocked to see the big infusion in my childs head. It was said

that she got sick because she was handled too mutch. She was put on

IV antibiotic treatment. She got better. After discharge at the

wieght of 2kg she was only at home for 5days and needed to be admitted

again. By then her peadiatrition had a Heart attack and was not

available. It was very difficult to explain to the medical personnel

that took 1 hour to drink her 20ml feed (a 3 hour routine)

They thought that my child was underfed and that I could not handle

her well. Nobody took the time to listen to her history.

So things wnet on for about 2 years, continously contracting

pneumonia, admitted and treated with Iv antibiotics. Then my general

practitioner refered her to an Endocrine Specialist in Pretoria South

Africa, who just said " This child has just got a over Pigmentation

(coulouring of her skin)and there is nothing wrong with her " althoug

I had to give her medication for a Fever that day.

So anoter 2 years went by till a wonderfull person came into my life A

peadiatrition Dr Elna Gibson she understood me, she evaluated my child

and her condition, we tried various treatments to build 's

Immune system and to prevent the chronic pneumonia. We were refered

to HF Verwoerd Hospital, where under the care of Prof Witteberg and Dr

Andre van Niekerk, 's diagnoses were made at the age of 5

years. She has a highly IGg2 difficiency, developed bronchiectasis

from the chronic pneumonia and of course Russal Silver syndrome.

They started her on monthley Polygam infusions (Human Imunoglobolin)

which helped not to get sick so often. We treated her wirh

the Polygam till she was 8 years old, where she had a

lobectomy(partial removal of her one lung)to remove the affected part.

Since then she never had Pneumonia again. is now 13 years

old and weigs 15kg, and stil wears 6 to 8 years clothes. She is a

sweet little one and always have a smile to give. If it was not for

that smile I would have not made it throug this years. In all this

time I maintained a steady job, never took of work. Thanks to my

dearest Mom, I even tought her to administer 's Iv medication.

Otherwise I went and give her treatment at lunch breaks, after work

and in the middle of the night.

had to undergo bilateral Osteotomies to straighten her legs,

and since 1 Jan 2004 her left leg did not heal, the internal

ficksation had to be replaced twice, and she was in a spica splint for

8 months. Now the only thing we can do is to hold thumbs for her leg

to heal.

We made it, and are trying to get permision form our Medical Aid to

start growth hormone treatment. has got all the clinical

signs of the Syndrome and is actually a beatifull child, and I

love her to death. It was hard to have depression and handling it

myself. Sometimes dificult to handle people's rude comments, just

bacause they did not ask qeustions and did not listen. If anyone has

qeustions where I can assist you, feel free to do so. My child is

over the worst and now we can breathe I needed help a long time ago,

and the support groups and various countries should be more reachable.

I only got all the information of the Syndrome in 2003. That is a

shame I could have done a lot more!