Regarding your question about waiting to start Kanuma, this is not an easy question to answer. Even if I knew the mutations, I would be hesitant to gamble with his health. There was a baby reported who had a stroke at age two…"
it must be so frustrating that most doctors do not know CESD very well if at all.
I will do my best to answer your questions, but it could help to know more about Vanya. Did Vanya have genetic testing or only the enzyme test?…"
Welcome to LAL-D Aware. I'm a genetic counselor in the USA, and I worked with enzyme replacement therapy for several lysosomal storage conditions, including CESD.
We followed two patients who received Kanuma for over a…"
I am so sorry that it has taken this long to respond. I just saw this post (a bit late)!
I hope that you found out about other people with LAL-D in Canada. I do not know any personally, but I do know that there is a paper from the…"
I just saw your post, so please forgive the delayed reply.
We've had patients with ports for years. They don't seem too bothersome.
As for the scheduling, some hospitals tend to be big, slow and inflexible, even when the…"
Please forgive the delayed response. We are updating this site and your question was not easy to find!
By now you probably already know that Kanuma infusions are given over about 2 hours. However, depending on the infusion…"
"Hi Dorothy- welcome to LAL Solace!
I'm Donna Bernstein, a genetic counselor. I'm also involved with LAL Solace and saw your message.
Please feel free to contact me at 917-306-8312 if you would like to discuss anything regarding genetic…"
Welcome to our LAL-D (CESD and Wolman Site)!
I'm Donna Lee and I am involved with the website and I'm a Genetic Counselor, so please let me know if you would like any information about our site or LAL-D.
I just sent you a…"