Lipoprotein Lipase Deficiency (LPLD) Community

Learn how others live with Lipoprotein Lipase Deficiency (LPLD) and share your story

Been 15 Years since Diagnosed

by erica3172 published about 1 month ago

I am new on Rareconnect, so Hi! I was diagnosed with LPLD since the age of 1 and now im 15. It has been 15 years since i was diagnosed. My mom has been controlling my meals and it is kind of a struggle when you have LPLD since your have a very strict dietary meal, but at the same time its scary to have LPLD knowing that anytime a "stabbing" feeling near the abdominal area can strike. ...

Diagnosis at 8 months

by cynthiaturquot published 5 months ago

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. I have been living in Quebec for 40 years with familial hyperchylomicronemia syndrome (SHF) or hypertriglyceridaemia type 1. I was born ...

2 year old with LPL deficiency

by Lpldmummy published 5 months ago

Worries of a mother and struggling with the terrible twos! Hi everyone. I'm so happy to have found this website, I wish I had found it sooner! Our son was diagnosed with LPL deficiency at 10 weeks old after he was hospitalised for a respiratory infection.
My feelings at the time of diagnosis were both relief that it was something we could manage, as well as sadness that he would suffer ...

Hello Everyone!

by darlenevoll published 7 months ago

Diagnosed as an infant in 1977 Hello everyone! My name is Darlene I'm 39 and I live in the US. I was diagnosed with LPLD as an infant and was fairly successful in managing my LPLD as a child with only 2 known episodes of pancreatitis; as an infant, and then again around age 8. I was fortunate to live in an area with excellent health care and my parents would travel to take me to a Lipid sp...

Daughter with LPLD

by Melissa published 9 months ago

Hello-I am so excited to find some kind of community for LPLD! My story starts when my 3 week old daughter was hospitalized for an upper respiratory infection. When they drew her blood we knew something was not right-it was so pink. We were released from the hospital overnight-she had no other presenting issues. We met with a geneticist and were in the process of figuring out what was causi...

Living with LPLD in the United Kingdom

Living with LPLD in the United Kingdom

by jill published 11 months ago

My name is Jill Prawer, and I was diagnosed with LPLD in 1964. My mum reports that I had stomach aches from birth, and when I was two she gave me chocolate buttons to stop my “incessant crying”. I then came out in yellow spots and was taken into hospital where I stayed for three months until a diagnosis was made. My siblings were then tested and it was found that my eldest brother also had th...

Our 7 year-old daughter was diagnosed with LPLD a month ago

Our 7 year-old daughter was diagnosed with LPLD a month ago

by matiasenz published about 1 year ago

Our 7 year old daughter Julia was diagnosed with LPLD recently so all is very new for us and we are seeking a better understanding the disease and how to manage it. Below is our brief story and a couple of questions for which we appreciate some guidance. Best regards to all in the community We found that Julia had LPLD through a routine blood test which gave triglyceride levels of 1100. We repe...

1960's Research Baby

1960's Research Baby

by sandyketronvowell published about 1 year ago

Research baby at Johns Hopkins I was born in 1960 and was a colicky baby according to my mom. At my one-year-old "well baby" check-up, they stuck my finger for routine blood test and my blood came out white. Everyone was astonished. They stuck the other finger. That blood came out white as well.

Fortunately, my pediatrician had just returned from a medical convention in Texas where...