a (late, late, late) checkup update!

Sorry everyone. I have been meaning to hop on here and give updates regarding Gracie's week of appointments in MN, but we seriously hit the ground running when we got back home. My school schedule is demanding and busy, and it seriously leaves me so tired at the end of the day, I can hardly think about my homework, much less blogging. :( Sorry for the delay, but here's a summary of Gracie's 2-year post-transplant checkup.

Cardiology: Dr. Braunlin was again very happy with the results of Gracie's ECHO and EKG. Apparently, Gracie's heart valve issues are still stable, and again may have shown a slight degree of improvement from last year. Her heart walls, which were thickened last year from the extended use of the anti-rejection (steroid) medication, have thinned back into the normal range since she is no longer taking the med. Dr. Braunlin kicked us out of her office again and like last year, she pronounced us too healthy to be there. Love it!

BMT Clinic: This appointment began with a not very fun blood draw requiring both Jimmy and me to hold Gracie still while they drew lots of blood for many different tests and studies. But soon after, we were waiting anxiously to see our very good friends, Dr. Tolar and Nurse coordinator, Teresa. When they entered the room and saw our Gracie, they could not stop talking about how wonderful she looked! Dr. Tolar did a short exam, pronounced that Gracie is his Hurler Poster Child, and proceeded to cheer Gracie on as she shared lots of her tricks and even showed him how to edit her chart on the clinic computer. :) Whoops. Anyway, it was a joyful appointment, all smiles and hugs and claps, and Miss Gracie *loved* all of the attention she received.

Genetics: A visit with Dr. Whitley was next and ended up being much more exciting than expected. While we spoke about the latest treatments coming available, and especially the current studies ongoing which are attempting to curtail many of the post-transplant issues that our Hurler kids face. We shared thoughts, and discovered that we have all be pondering the same question... could an overabundance of enzyme, especially in areas that are trouble areas for Hurler kids due to decreased vascularity of those specific tissues, help delay or even avoid many of the issues these kids tend to face? Well, to make a very long story short, we were considering a kind-of experiment - a one-time ERT infusion followed by multiple urine specimens in order to gauge decreased GAG output and duration of effects. As it turned out, we did not end up participating in this little experiment- mostly because it would disqualify us from enrolling in a study that Dr. Orchard is hoping to open by summertime. The basic idea is to take post-transplant Hurler kids, give them weekly ERT again and follow them closely to monitor whether they have the need for as many corrective options or if they even make improvements. Several of Gracie's specialists are on board with this, and helping with this particular study and they seem really excited about the prospects. We are very interested in this particular study and we're hoping that we will be able to learn more about it soon.

More later, I promise.