LAL Solace Patient Community

LAL Deficiency (Lysosomal Acid Lipase Disease) & Wolman Disease patient support

Canada

Hello Everyone,

I am wondering how many people on here are from Canada. We are trying to find out whether or not our daughter is the only child in Canada with LAL D.

Thank you

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Permalink Reply by Donna Lee on January 18, 2017 at 11:20am

Hello Lisa-

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 1990s on a Canadian patient (attached). So your daughter is not the only one, though the patient in the case report would be in his late 30's by now!

Where are you from in Canada? I can ask the people at Alexion, the company that makes the treatment for LAL-D if they know any other Canadian patients. I can also ask genetic counselors in Canada i they know about any families with LAL-D. If so they may be able to introduce you.

I hope you and your daughter are doing well. Please feel free to contact me if you would like me to follow up on Canadian families with LAL-D or if you have any questions or would like more information about LAL-D.

I don't check the forum so often (as you can tell) but if you send a message it goes to my email so I will see it.

We would very much like to organize a patient meeting. This may require travel, but there are many families who would like to meet others with shared experiences.

Please accept my apologies for the delayed reply again... You probably forgot that you even asked the question by now!

Donna

PS- the paper is about statin use for LAL-D. It is now established that for people with LAL-D, statins can help to reduce the cholesterol in the blood but it does not help the liver disease. Fortunately there is now enzyme replacement therapy, which addresses the underlying enzyme deficiency and has promising therapeutic results for both the liver disease and blood cholesterol.

Attachments:

McCoyTreatmentCombined.pdf, 95 KB

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Permalink Reply by Lisa G on January 18, 2017 at 6:41pm

Thank you very much for your response Donna, I really appreciate it. I will add this document to one of my many binders. Lol

I was able to find two others in Canada that I am in contact with. I was also able to gain access to Kanuma through special access through the Canadian Government, and a lot of help from Alexion. = )

I hope that you are well, and have an excellent 2017.

Thank you again for getting back to me.