Russell Silver Syndrome........................

Good Evening All -

This past week I signed up for the Magic foundation online - its an organization for children and their families with growth disorders.  After doing long hours of research in between everything else - plus a tenative diagnosis from genetics - I believe our little Mallie has this rare syndrome.  Russell Silver or RSS is mainly considered short stature - but there are so many things that contribute to it .....she really fits the profile.  Anyhoo this Magic foundation sent me a book and I mean an encyclopedia on RSS.  I wish I had signed up sooner - OMG!!! This book is like the RSS bible.  Its about 300+ pages all about everything to do with it plus stories from other people.  I believe that I am now way more eduacated on this than the doctors in GR!  Some of the things I thought were unrelated to RSS actually do have a high occurance - like malrotated intestines and hearing loss!  It all makes so much more sense to me now.  I am no where near being completely done reading the book but what I have read has been so helpful.  I will be contacting doctors tomorrow to talk more about this.  Physicians can get this book for free and with RSS being so rare I don't think most of them know what all goes with it.  I really hope to get in contact with a doctor who understands this.  Mallie still has so much ahead of her with more tests and doctors...ugh!!!!  The thought of it really does not sound like fun for any of us.  I am in complete acceptance of this now - I am now on to what do we need to do mode.  Funny thing is I came across this syndrome when Mallie was 4 months old one night when I was researching things.   When I read about it - man I thought she had it.  I ran it by a few people - but like me we all wanted her to be fine and not have anything....so I made a vow to quit looking things up for awhile and enjoy her :)  When 6 months came around I still just did not feel right about some things.  Steve and I talked and agreed to head to GR for follow ups on her.  So here we are - so close to an official diagnosis.  We just need that official - I believe will come from genetics at this point.  Either way - we have lots to do for her from here on out.  I have so much to say but don't have the energy tonite - will explain more about this later.  Those of you wishing to learn more - just google it.  Or if you really want information - sign up for Magic - the sign up is a donation so it can be used for taxes :) 

On another note - finally talked to the GR peds friday and she must agree that her ears need to be done asap too - so she will be calling the ENT to see what she can do.  As far as the intestinal malrotation surgery - it needs to be done - but there are some other things we need to look at before that surgery now.  It is possible that Mallie has delayed gastric emptying in which sometimes because she is still full she won't eat.  I believe this because when I try to force her - sometimes she will throw up :(  If this is the case when they do the malrotation surgery and probably do a feeding tube - that feeding tube will not help if her tummy stays full longer than normal.  So we need to check into some other things which we do have time since that surgery is still a month and half away.  i will keep everyone posted on what we find out! 

Steph

The latest..........

It has been a bit since I posted - but Endocrinolgy was able to get us in today - so went back to GR.  Really nothing became of today's appt.  We talked about what we already suspected - which is RSS or Russell Silver Syndrome.  The doctor we saw today says she looks and fits the profile of RSS.  Genetics will ultimately be the ones making the final diagnosis.  As far as growth hormone therapy goes - they won't start that until she is 2 - so there was no point in testing her now for it.  Plus alot of RSS kids actually do not lack growth hormone at all - they are just going to be little.  They do however treat the RSS kids with it in hopes that it may make a difference in height....so i guess it would be up to us if we wanted to go that route - it would mean daily shots for many years :(  We still have plenty of time before we have to think about it though.  I guess our main focus now is nutrition and intake.  She does not like to eat!!!  (Also part of the syndrome).  Currently as of last week her surgeries on her intestines and ears have been moved to July 27th:(  So from now until then if she does not pick up on the total intake of calories and food - she will also be getting a feeding tube.  I hate to see that, but really I am exhausted with fighting with her over her bottles.  I think she is exhausted too the poor thing.  So in a way it may eleviate alot of stress on both her and me or anyone who feeds her for that matter.  Still irratated about surgery being moved - because of the hearing.  We were told by the ENT that if the Intestine surgey was going to be awhile they did not want to wait.  But they are waiting - I am confused...... I understand going under sedation is not good - but now she won't have any shot of hearing to the best of her capabilities until she is almost a year old and that is sadening to me.  I called the developmental dr on monday for her opinion - and SURPRISE she has not called me back yet!!  She had no problems calling me right away to say that She may need a G tube for feeding after her last weight check.  Literally within a hour she called me - but when I have concerns or questions - I get nothing!!!!!  I will be calling them again tomorrow and will be complaining to the dumb nurse.  I swear she don't follow thru.  Ok enough ranting - I feel a bit better though :) 

Some good news - we were approved for CSHS or Childrens Special healthcare Services.  What that means is that whatever BCBS does not pick up they will.  The catch right now is only the ears are approved.  Each condition needs to be addressed separately - so the malrotation and MRI stuff was sent this week for review as well. 

Finally - the big one!  Mallorie started rolling continuously last week here and there.  So she would roll to her belly than roll back to her back:)  so she is kinda mobile now - watch out!!  Then this week she is getting  really great at it -she rolled like 8 times in a row the other nite!!!  Still need to strengthen her neck muscles a bit - so PT is still coming out once a week and we work with her a bit everyday!  We need some weight on that body to support her melon! 

Again thanks for everyone's support and prayers - we are not at the end of this journey for answers yet, but we are on our way :)  Night all!

Steph

Updates

We survived our first camping trip over memorial day weekend- Mallie loves being outside and it was a beautiful weather! We are still struggling with eating, everyday is different - can be so frustrating.  Friday Mallie went in for a weight check and only was 9 pounds 14 ounces.  Still not quite to ten yet, I was so disapointed because they are talking feeding tube.  Sounds sooo scary and I don't want her to have to do it.  GR dr started her on prevacid once a day to see if that helps at all with any tummy issues she could be having.  Its kinda a last ditch effort to avoid the G tube.  She has been cutting so many teeth - she now has 6 of them poking thru!!!  I do think that had something to do with the last week and half eating difficulties.  So now that she is on prevacid, we dropped back to 24 cal formula and the teeth have emerged - I am hoping to see an improvement with quantity of formula.  We have had some rough days that last week or so.......Since my last post - Surgery has been put off until July27th now because of scheduling conflicts for the malrotation doctor.  I was not super excited about waiting that long now for everything!  Even the ears....my gosh she may not hear good until she is a year old.  Just feels like we are so far behind and keep slipping.  On another good note - today has been a good eating day!!!!  She even ate some oatmeal and a cracker and her volume is up from what it has been the last 2 weeks!!!  I am hopeful she continues to increase her feeds so we can avoid the tube.  Hope everyone had a great holiday weekend - till next time - Steph