I have had some time to process our experience in MN finally.  It was very bittersweet.  I am thrilled that there are doctors and pharmaceutical companies out there who are passionate about learning more and finding a cure for Sanfilippo.  I spend a lot of time meeting with doctors who have never even heard of it.  So to spend a few days among people who are studying children with the disorder, in hopes of finding a treatment, was amazing.  I was thrilled that both Waverly & Oliver could participate.  They are such lovely kids and I was excited to introduce them to everyone.  It was sad though - knowing that my kids are most likely not going to benefit from any treatments that come out of this study.  The process of bringing a treatment to trial in the US is lengthy.  Our fear is that by the time the trial comes around, Wavey & Oli are going to be too far along in the disease to be eligible.  I have not given up hope, but the realist in me in trying to keep me grounded.

The doctors seemed to be very impressed with Waverly's demeanor.  Children with Sanfilippo tend to lose their bubbly personalities as they get older.  They don't laugh or smile as much as they used to.  Wavey is still has giggly joyful as ever.  They all kept commenting on her smiles and laughs.  Oliver has always been our more serious one.  He is slower to warm up.  But he was very good about shaking hands and giving hugs to all of the staff.

I look forward to getting the report from our visit.  It will be interesting to compare these results to their past MRI and EEG.  We did get their hearing assessment results back.  Thankfully, Oliver's hearing remained the same and Waverly actually tested better than she had the last time.

We are already looking forward to heading back there in 6 months to contribute towards finding a cure.  If not for my children, for those parents who have yet to be given that devastating news.  How incredible will it be when parents are told their child has Sanfilippo, BUT there is a very successful treatment option available.  That makes it all worthwhile. 


camille said…
You're amazing!
Jen said…
Thanks for moving the research forward. You are a trail-blazer!!
Matt said…
Finding a cure or effective treatment for Sanfilippo will require lots of families to help, knowing that any breakthroughs will come too late to help their children.

Your willingness to go through this to help other people's kids shows you are a great and generous person-- but I already knew that. :)

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