Young mom

[Guest guest]

Hi ,

Welcome to the group. I thought I could give you some advice in being a young

mom

with a possible RSS child. My son, will be 10 next month, and only had RSS

confirmed

by Dr. Harbison this past summer at the convention. I was 22 when he was born

12

weeks early weighing only 15 oz. He was in the NICU for 7.5 mos. before he came

home. Ironically, before I had him I always wanted to be a doctor, particulary

a

neonatologist.

I have only encountered one instance in all the years I have raised him where a

doctor

didn't take me seriously due to my age. I think this was because I made myself

very

knowledgeable about his problems and potential for future medical problems.

When

he was in the NICU, I read TONS of books on preemies, so that I could be aware

of

any problems he would be at risk for. I knew exactly what problems he was

having

before the doctors could explain them to me, and I was even able to speak with

them

using the correct medical terminology. I'll never forget the look on the

neonatologist's and cardiologist's face when they told me he had a PDA (patent

ductus arteriosis) and I asked them if they would use Indomethacin to treat it

or do a

ligation. It was priceless! From that moment on, they referred to me jokingly

as their

fellow neonatologist.

I have found that most doctors lack knowledge when it comes to dealing with our

children. You, as his mother, know him best. My advice to you would be to

become

as " expert " as you can about RSS & any other problems he may have. When

was 4 years old, he started having a lot of changes in his body, and I was sick

and

tired of the umpteen doctors telling me they didn't know what was wrong with him

or

misdiagnosing him. I went out and bought the Physician's Guide to Rare Diseases

(a

very expensive book) & read through syndrome after syndrome for several months,

marking down ones that I thought could have. I finally came across RSS,

and

asked all of his doctors if they thought he could have that. They all agreed

that he

did have many of the signs, but weren't familiar enough with it to give him a

definite

diagnosis. Then, I had one geneticist actually do the UPD7 test, and it came

back

negative. I was shocked, because I was SO positive he had this. It wasn't

until last

summer ( was almost 9) when a doctor in another state told me that the

UPD7 test was only positive in about 10% of RSS cases. That's when I decided to

do

more research, and went to the MAGIC convention this summer.

I hope this was encouraging for you. I think it is a lot easier to get

information now

about RSS and any other rare disorders due to the availability of the internet.

MAGIC

has been wonderful in providing information, and NORD (National Organization for

Rare Disorders) is also a good source to get information about rare disorders.

Kim

(Mom to , RSS, almost 10, , 3, and baby-to-be --->hopefully a

girl

this time!)