Robinul to the Rescue (so far)

This past week we began treating Oliver with Robinul in the hope of controlling his increasingly high secretion volume as we had gotten to the point of hourly suctioning on bad days. Robinul is a very powerful drug with numerous side-effects and some patients tolerate it better than others. In some SMA cases, you get only side-effects and no secretion reduction.

It's normally in tablet or inject-able form - needless to see, we aren't giving the poor little guy twice daily injections! Instead, a higher dose of the inject-able form is given via the g-tube.

So far (fingers crossed), he has tolerated treatment well. His secretion volume is way down, and while mucus is thicker, it's not so thick that cough assist and suction hasn't been able to remove it. In addition, he's not been constipated (one of the bigger worries).

We hope this response continues as it's greatly improved Ollie's (and mommy and daddy's) quality of life in a short time frame.

Carrier Confirmation

Some of you may be aware that SMA is usually an autosomal recessive disease, meaning that both parents must be carriers and that any child produced by those parents has a 25% chance of having the disease. There is a small chance that only the mother is a carrier (ala Hemophilia) and we needed to understand what category we fit in.

Recent testing confirmed that both Rebekka and myself are carriers. What does this mean? For one, it means that immediate family members thinking about having children need to be tested and if they are positive so do their spouses. It also means that if we choose to have more children, it will likely have to be through in vitro procedures as they can test embryos to about 98% accuracy to determine if the SMA gene deletion is present.

These aren't easy things to find out, but it's critical if we are to make future decisions.

Bekka and I have also become passionate about pre-pregnancy screening. As it stands right now, Cystic Fibrosis is the only disease routinely screened when most couples are thinking about having children. Even then, not all doctors advise their patients to get screened (a travesty if you ask me). SMA is an even greater mystery to most physicians. Many know nothing about it and it's prevalence is beginning to look even higher than CF.

We strongly think, no we KNOW, anyone thinking about pregnancy should be screened. There is no real treatment for SMA. Genetic testing and prevention is the only means for parents to avoid the heartbreak of this terrible disease.

Fundraising Update

Wow.

I'm pretty much speechless.

The yard sale and bake sale at Durant Road Preschool raised over $1,000! Thank you so very much to each and every person involved in the fundraiser. Oliver attended Durant Road Preschool until his diagnosis made it unwise to continue at day care. Many teachers, assistants, parents and other folks that we don't even know helped to make this a very successful event.

We can not begin to tell you how much this means to us, how much we appreciate this and how thankful we are for the support from our community.

And this is not the only fundraising event for our dear little Oliver.


Wednesday, May 20, 2009 - 7pm
Entrees4U at Poyner Place Shopping Center - Raleigh, NC
lizajane baby Trunk Show

Saturday, June 6, 2009 - 2pm until 6pm
Stewart Simmons Volunteer Fire Dept - Deep Gap, NC
191 Jakes Mountain Road
Spaghetti Dinner & Raffle


Thank you so very, very much!

Wedding

Our very, very dear friends, Dave & Amanda, are getting married THIS SATURDAY! We can hardly wait! Amanda is also a blogger and posted a beautiful piece about Oliver recently. She is also the Amanda that has taken so many wonderful photos of our dear little boy.

A hearty CONGRATULATIONS to Dave & Amanda!

Best wishes for many, many happy years of marriage!

N & B & Ollie three

Upcoming Fundraising Events

We are so fortunate. So many people have reached out to Ollie and have helped raise funds for his care. We can not begin to thank everyone for this. We are touched and humbled.

Some of the upcoming fundraising events include:

Saturday, May 16, 2009 - 8am - noon
Durant Road Preschool
Yard Sale and Bake Sale

Wednesday, May 20, 2009 - 7pm
Entrees4U at Poyner Place Shopping Center
lizajane baby Trunk Show


There's even a Spaghetti Dinner planned near where Ollie's Nana and Pawpaw live! We'll update you as soon as we have more information.

Again, THANK YOU from all three of us but especially Ollie!

Jr Pavement Engineer

Neil had a conference in Wilmington, NC, at the end of February. (It was pretty scaled back considering the current economic situation. Even so, the Raleigh ABC affiliate ran an "expose'" of the DOT's "wastefulness" and such. Pretty comical, actually.) As ya'll can imagine, Ollie was a HUGE hit. He was promoted to Jr. Pavement Engineer - complete with badge and traffic barrel! During the vendor breaks, there were arguments as to which table Ollie was allowed to set up since he attracted quite a crowd. I finally stated that we would charge $100 per half hour and rotate around to the various tables! Ollie and I had a nice mini-vacation while Daddy worked.

Quantity over Quality...

Sorry about the lack of posts recently. I'm gonna give you several short posts over the next few days in an attempt to redeem myself. I only promise quantity, not quality. =)

We have our photo shoot schedule with Bianca at A Moment Like This - May 20th. I'm really looking forward to it! We'll do some family portraits as well as some just Oliver shots.

That's all for now, but check back often.

New photos are up! New photos are up!

That is all.

For now...