We are here in Dallas tonight! We just got checked in a few hours ago after our meeting with Dr. S., the “world-reknown expert” on Gaucher’s Disease. Such a nice guy, and his assistant was such a sweetheart. Since it isn’t a children’s hospital, they don’t see a lot of babies. So as soon as […]
[Continue reading...]Politics of trying to be an advocate parent
11 Feb by
I’m getting very frustrated… As all of you that follow our journey regularly know, I am extremely gung-ho on trying to work to find a treatment for Hannah. I’ll be damned if I don’t do everything in my power to try and save her life! Admittedly, I can be a bit TOO gung-ho at times […]
[Continue reading...]Getting ready for tomorrow!
11 Feb by
We had our developmental therapy session with J. today, and Hannah was just not in the mood to participate! She was so exhausted, which I have noticed quite a bit since the Cerezyme infusion on Monday. As a matter of fact, she fell asleep not 5 minutes after J. left — out like a light! She […]
[Continue reading...]In search of results of a clinical trial
10 Feb by
I found this clinical trial on the NINDS (National Institute of Neurological Disorders and Stroke) website – Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease. This single-patient study includes an 8-month-old male with Type 2 Gaucher disease with progressive neurological decline. From what I can gather, they infused the missing glucocerebrosidase enzyme directly […]
[Continue reading...]Hannah’s first Cerezyme infusion
10 Feb by
My little girl is such a champ! We got to the Infusion Center at 10:00 AM. She had to get bloodwork drawn for baseline labs, and that took about an hour. She had to go through three nurses and three IV attempts before she finally got her blood drawn and her IV set up for […]
[Continue reading...]Greyson’s Gift – Texas Newborn Screening Law Changes
9 Feb by
I met this family online a few weeks before her beautiful little boy, Greyson, passed away from Krabbe’s disease. Her situation not only makes me sad because her Greyson passed away before his first birthday, but it also makes me mad because his death could have been prevented, as Krabbe’s disease is treatable if caught […]
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