LAL Deficiency (Lysosomal Acid Lipase Disease) & Wolman Disease patient support
I'm so happy to be here and hope I can get help from someone here.
I am now 47 years old and I will start out saying a bunch of recent tests let to MANY incidental finds
Since I was in 20's I have had genetic cholesterol and since we knew it wasn't diet related,
I was never put on medications. I have been an avid person who works out daily and eats fairly good all of my life.
Since I was told my bad cholesteral was good and my trigylcerides were always good, it was determined I did not need medicine.
Late 20's early 30s
2 kids 2 C sections after my second I get diagnosed with underactive thyroid(on Synthroid since 2009)
I have been complaining for past few years about abdominal distention and my belly is huge for someone that eats good and works out so much no one can understand. It looks like I'm 6 months pregnant. I was tested for adrenals, glucose tested and everything else came back normal.
So fast forward to June 2016, a abdominal catscan(because of bloating/distention) comes back normal and discovered a nodule on my left lung that was caught accidently since it wasn't a chest scan it was recommended by a pulmonologist to have a chest catscan.
The chest catscan a few weeks later revealed more nodules and a heart issue. I was told to come back in 6 months for a chest catscan with and without contrast to see if any changes to heart and lungs.
In the interim I went to a rhemotologist and was told my Ferritin was a 5.3 and my iron storage was low. My overall hemoglobin was borderline anemic at 11.5. I was told for a women ferritin should be in the 70's. I have been taking liquid iron 3 times a day to supplement since February. As of March 28 My ferritin was a 12 still very low .I went for my 6 month follow up and had a chest catscan with and without contrast this past March. My test revealed in addition to my heart issue it showed leisons on spleen and an adrenal nodule, it was suggested I get a MRI of the abdomen to check the spleen further.
The abdomen MRI with and without contrast on 3/28/17 showed nothing wrong with the spleen(which is confusing to me still)
It then revealed I have an enlarged liver and a small umblical hernia(more things that came back incidentily). I rarely drink so how could my liver be enlarged?
This led me to research more and here I am
I spoke to my endocrinologist today and she will give me a script for the LAL Deficiency blood test (is that what it is even called?)but she said no one she knows will do it, so not sure where to go. Its not listed on the Lab center here.
I'm in Long Island New York
In addition, my endo just started me on cholesteral meds 3 weeks ago because after not being on any meds for 20 years I do not want to walk around with high cholesteral anymore with a heart issue. So I insisted. So we are doing lowest dose every other day.
Please any help/guidance would be appreciated
Thanks so much