Diagnosis at 8 months

Hello everyone :)
I'm new here. Born in Quebec, Canada, I was diagnosed with hyperlipoproteinemia type 1 at the age of 8 months. I had a single pancreatitis at the age of 32. I received Glybera therapy and I had two children later, without complications.

Written by cynthiaturquot, published about 1 month ago.

I have been living in Quebec for 40 years with familial hyperchylomicronemia syndrome (SHF) or hypertriglyceridaemia type 1. I was born in Quebec, my parents are native of Chicoutimi in Saguenay Lac St-Jean, a region of Quebec in Canada where there is a greater concentration of cases with the SHF. I now live in the Montreal area where, to my knowledge, there are approximately 100 patients with this disease. I am in contact with 6 people with the disease, in person or via Facebook. I received Glybera therapy in 2009. After that I had two children without complications and I was able to breastfeed them both, of which my last until the age of 2 years. My partner is not carrying the recessive gene, so my children do not have the disease, they are carriers only. I am now 40 years old. I had only one pancreatitis at the age of 32 years, in 2008, without consequences. I'm not diabetic. During my two pregnancies, I had only one apheresis during my 2nd pregnancy. The first one went normally with medical follow-up, of course. If you have any questions or comments, it will be my pleasure to exchange it with you! I read your testimonials and they are very rich! Thank you for your generosity and your authenticity :)
Cynthia

Written by cynthiaturquot, published about 1 month ago.

3 comments for «Diagnosis at 8 months»

Expand all ]

  • cynthiaturquot | published about 1 month ago | Originally written in French

    Je dois ajouter que je suis actuellement en train de tester une nouvelle médication dans un protocole dont je ne peux pas parler, mais qui semble très prometteur. Je vous tiens au courant dès que je peux.

  • jill | published about 1 month ago | Originally written in English

    Hi Cynthia - good to have you here.

  • martacampabadal | published about 1 month ago | Originally written in English

    Hi Cynthia,

    Thanks for sharing your testimonial with us, I'm sure other members will thank you this too.

    You can check the Members section to see if there are other canadian patients there you haven't met yet.

    Best,
    Marta

Leave a comment

You must be registered and signed in to leave a comment. Sign in now.