"Unknown Clinical Significance" - Now Known...

Bella had her first taste of the Big City yesterday and I would say she quite liked it.  It was a beautiful day to be out on the city streets and boy did everyone take advantage of that.  I think Bella was amazed at all the people.. she is a little country girl after all, but she sure had a twinkle in her eye with all the hustle and bustle.

It was a long, information filled, and tiring day.. I know so many of you were waiting on news but we were all very beat and I just didn't want to rush a post and not give all the information we received.  So here it is.....hope you have a minute or two...

We have our answers, we have our diagnosis... Bella has Rett Syndrome, no question, no doubt.

So, finally we understand that although her variant on R133h of the MECP2 gene is rare... it is in fact Rett Syndrome. I guess we always knew that was the most likely outcome,  but I think there was always this sliver of hope in the back of our minds.. even if it was the way back.. that this was something "else" and Bella would just outgrow it.  When we were originally told her variant was of "unknown clinical significance" and the doctors we had seen weren't ready to say 100% that it was Retts, it gave us this life raft to hold onto.. even with her  (what has always seemed to me.. clear symptoms and behaviors of Retts), I think we all tried to keep a finger on that life raft.  So it was sort of a "second blow".   Not quite as hard of a sucker punch as the first one..but a pretty good jab just the same.

Without a doubt, we saw the leading expert in the field of Retts... he was absolutely unbelievable.  We left with ALL and I mean, all, of our questions answered.    Specifically, here is what we learned:

1.  In categorizing girls with Retts, they use "mild, moderate and severe".  Bella is mildly effected by the disease;

2.  It is likely that Bella has a form of Retts where more of the healthy "X" chromosomes are turned on rather than more of the "affected X" chromosomes ;

3.  The doctor states Bella is in extremely good health for a girl with Retts;

4. He feels that Bella WILL most likely walk!!  Although it will take time, and lots of it;

5. We have seen the worst of her regression!  She has NOT lost functional use of her hands which is such a blessing!

6.  The likelihood of Bella speaking is somewhat less optimistic.. if she does regain speech she will most likely only say a few phrases; However she can learn other forms of communication such as sign language.

7.  Bella can go to school.. what kind of school and where will be determined as we go along.

8.  Bella most likely has acid reflux and will need medication and monitoring from a gastroenterologist.

9.  Bella has been put on some super duper vitamins and supplements, including Q10 to build up her muscles to help her walk;

10.  There is no guarantee that Bella will not have seizures in the future.  60% of Retts Girls have at least 1 seizure between the ages of 1-6.  However, Bella is already on anti-seizure medication which will continue to be monitored and she will continue to have EEG's to make sure we stay on top of it.  Seizures are the most dangerous for hurting Bella's progress and we must be diligent with this.

11. All of her current behaviors and symptoms are in fact related to Retts, from the constant rubbing of her nose, to her teeth grinding, to her hitting herself, to her mouthing toys and objects, to her hand gestures, to her sleep issues, it is all related.  And the bright spot.. some of them should subside over time.

12.  Bella and girls with Retts have sensory issues where overstimulation bothers them.. for example, with Bella.. she loves being with people, however, loud sudden noises from a large crowd causes her anxiety.. explains why she cries whenever "Happy Birthday" is sung with clapping at the end!  Doctor said we would learn Bella's cues and either avoid those situations that cause extreme anxiety or just remove her momentarily.

13.  Girls with Retts often have heart related health issues.  Bella was given an EKG yesterday and will have to have one yearly to monitor her.

14. Girls with Retts have VERY GOOD receptive language, which means, Bella UNDERSTANDS everything that is said to her.  Retts does not effect intelligence;

15. Life expectancy for a girl with Retts is getting better, with women living to middle age.  The key is for them to remain healthy, no seizures, no heart issues etc...good medical care is essential.

While that is pretty much all of it, in a nutshell, I have saved the BIGGEST AND MOST HOPEFUL NEWS FOR LAST.... THEY ARE CLOSE AND I MEAN CLOSE TO A CURE!!!!!!!!!!!!

The doctor we saw is leading the research and told us that Bella is young and that is so wonderful because they are so close to finding a cure which REVERSES Retts.  This would mean that  once they have the cure, Bella would resume a normal healthy development with walking and talking and running and dates, and proms and sports and college and weddings etc etc etc....

They just need one thing.... money.  They need money to fund the trials, the need money to develop the drug (which they have and have used to reverse the symptoms in mice)... they just need the funding.  The doctor was confident that within Bella's lifetime they should have the cure... its just a matter of when.  Obviously I would like that to be tomorrow... but to know its out there and a possibility... looks like someone turned that lifeboat around and sent it back our way.  

We received the BEST possible news we could have yesterday, within the world of Retts.  I guess that it still was hard to swallow because I don't want to be in the world of Retts, I don't want my daughter within the world of Retts.  But reality being what it is... I can't change that.  Bella has some significant challenges ahead of her, that is for certain.  All of us who love her do.  But as my husband says.. "we have her, we have her here everyday with us." And as I watch her every day, smiling and giggling and just bringing joy by being in the room.. I think this little girl is going to surprise us.  I do know her father and I will do whatever we have to, we will walk to the end of this earth and back to make sure she has the best care and all she needs to meet every challenge.  We have our mission now, we know our path, we know the name of what stands in our daughter's way and I will tell you.. we are ready to kick its ass.