Living with LAL Deficiency....now what?

[Melissa Aguilar]

I am 31 years old and I found out I had LAL Deficiency on November 15, 2011.  After years of various types of surgeries (gallbladder, appendix, uterus and cysts) and numerous years with the doctors telling me my triglycerides were high, I finally was diagnosed.  To get to the point has been a long and hard journey.  When I had my gallbladder removed I was told I had "fatty liver". I had no idea what the doctor was talking about.  I just wanted to be left alone to be honest.  I just went through a whole month of testing and did I mention the excruciating pain to finally diagnose me with stones in my gallbladder.  I went to numerous hospitals asking for help and numerous doctors, 5 cat scans and finally 1 x-ray told the story.  So as you can see the last thing I wanted to hear was "fatty liver".  From then on I went about my everyday life.  Of course, that time of the year came again for my physical and "high triglycerides" was another word I kept hearing along with "anemia" (same as always I thought).  I watched my carbs and stayed away from fried foods and then here we go again more surgeries.  The most recent surgery was for my uterus but then again I heard the word "fatty liver" (by now it was the 3rd time I heard this word).  An MRI I had detected the fatty liver and when my doctor performed surgery for my uterus she said I had fatty liver as well.  She sat down with me and explained that I don't have fatty liver because I am fat as I had thought.  She said you get fatty liver from something else.  She also pointed out to me that something is going on with the right side of my body that it seems to be "shutting down".  Well she sent me to my gastroenterologist and I had a colonoscopy and some blood work done.  Then I got the letter at home asking me to come in that the gastroenterologist has been trying to contact me.  I thought to myself "great, now what"!  Well, this is when my life changed. 

I think I am still in shock and I didn't ask enough questions because I just didn't know what to say.  I should have asked how, why, when etc.  I left his office only knowing that I had to exercise and stay away from carbs and see a nutritionist right away.  I also remember being told it is genetic.  So what did I do… I headed straight to the internet and did some research.  The hardest part was finding a support group which I tried to research through FB.  I finally stumbled on a Rare Disease page that lead me to this wonderful site.  So what am I doing now you ask, well I am hitting the gym and watching what I eat.  I think about this disease night and day, day and night.  My appointment is next Tuesday with a nutritionist.  And I have spent my time trying to spread the word out there for others to get tested and raise awareness as I try to find information on this disease myself. 

I am heartbroken and also scared of the unknown.  I think about my 3 children and my husband and about what is going to happen in the future.  I feel lost in a way but as I get more information and learn more and more I don’t feel like the room is spinning out of control anymore.  I know I am not alone and that yes-there are others out there with this disease.

If there is any questions you may have or if you just want to share and talk to someone, please feel free to write to me.  I know I sure could use all the support I could get right now.  When I found this site I was at work and started crying at my desk.  I thank God everyday for giving me another day on this earth and for showing me this disease so I can start doing my part to stop its progression.

Love and positive thoughts to all.

[Mary Pruitt]

Thank you so much for sharing your story. We started this website because when Gage was diagnosed, there was literally no support to be found. We could not find any helpful information on his disease and we felt so very alone. I never want anyone with LAL Deficiency to feel alone. I hope you can find information here as well as a group of people who truly understand what you are going through. We have a medical expert, Dr. Anthony Porto. You can find his link on the home page. Please feel free to message me or him at any time to ask any questions. We have other doctors such as gastroenterologists and geneticists that are also available to answer questions. Please feel free to contact me anytime. You are not alone. We are all here for each other. Wishing you the best, Mary

[Karen deJong]

Hi Mellissa. 
Its good to see more people with LAL defficiency.  Our story is also here on the site.  We felt very lost and sad when we 1st got the dianosis as well, but as we have found more information and we have changed my daughter's diet, which has been very successful for us, we are a lot less uncomortable with the disease.  We have found the diet to be not very difficult- its been a good change for the whole family.  Hope you are feeling a little less overwhelmed- it does get easier.  Feel free to message me : )
Karen

[Melissa Aguilar]

Thank you so much Karen for sharing with me.  I have good days and bad days but I guess it is to be expected since it has only been a month since I found out.  I too meet with a nutritionist who is very awar of this disease and I have changed my diet as well.  It brings a lot of comfort knowing that the diet has helped your daugher because that means there is hope for me.  I feel a great weight lifted off of my shoulders. All my best to you and your family and thank you again for your comforting words.  I will def. keep in touch.

 

Melissa Aguilar

Karen deJong said:

Hi Mellissa. 
Its good to see more people with LAL defficiency.  Our story is also here on the site.  We felt very lost and sad when we 1st got the dianosis as well, but as we have found more information and we have changed my daughter's diet, which has been very successful for us, we are a lot less uncomortable with the disease.  We have found the diet to be not very difficult- its been a good change for the whole family.  Hope you are feeling a little less overwhelmed- it does get easier.  Feel free to message me : )
Karen