I was diagnosed with CESD approximately 3 years ago at the age of 38. Almost 20 years ago, I found out that I had elevated AST and ALT enzyme levels in the liver, but no one knew the cause.  I have been working for the same organization for the past 18 years which had mandated cholesterol checks every year.  Each year, my cholesterol levels and triglyceride levels were well above the normal range.  After eight years of receiving the same high results, I finally decided to see my family physician. I was told that since I did not have any other risk factors that they would continue to monitor my cholesterol levels. I was extremely active, low body fat percentage, ate healthy and my vital signs were normal. After four more years of receiving the same high levels of cholesterol and triglycerides, I returned to my health clinic, but was seen by another doctor. I still did not have any other risk factors, but this time they put me on lipitor and ordered a liver function test. The test came back with elevated ALT, AST and billirubin levels.

 

My primary doctor ordered an ultrasound which revealed that my liver and spleen were a bit larger than normal. They also found out that I had several gall stones.  They referred me to a surgeon who recommended that I have my gall bladder removed before the stones were to give me problems. I had laparoscopic surgery to remove the gall bladder. During the surgery, the surgeon noted that my liver was abnormally fat, especially for someone who was not overweight. I was referred to Gastroenterologist who specialized in hepatology. I was also referred to several other specialists including hematologist, oncolologist, opthamologist, cardiologist, geneticist, and pediatrician. I was misdiagnosed with different rare diseases.  To say the least, it was extremely stressful on my family and me not knowing what was causing my fatty liver.  It was not until I was referred to a pediatrician who studied genetics at the University of Minnesota who finally diagnosed me with CESD.  It took nearly two years to obtain an accurate diagnosis. 

 

Three years ago, there was very little information about CESD and Wolman Disease. After my diagnosis, I found a few doctors who were very interested in this rare disease and studied it to provide me with the proper care.  I have also met several doctors who have never heard of these diseases. 

 

I have recently met great doctors and experts who have a lot of knowledge about Cholesterol Ester Storage Disease and Wolman Disease. They have been very helpful in answering my numerous questions. It has been exciting to meet them and learn more about this rare disease.  

 

IThere is a lot more to my story about my diagnosis with CESD, but wanted to share the main story.  Any one who has any questions about my experience with CESD, do not hesitate to contact me. 

Views: 497

Reply to This

Replies to This Discussion

Thank you so much for sharing your story. One thing I think we all have in common is stumping the doctors while they are trying to find a diagnosis. Maybe one day this will be diagnosed sooner so the patients can begin treatment sooner. Mary

 

Hi Brett, this story is truly inspirational.  I too have a similar story to yours.  I have been told I have high levels of cholesterol and triglycerides.  Each year the prognosis was the same, then I had stones in my gallbladder and that had to be removed emergency surgery, I had my appendix removed and recently my uterus.  I am not saying all of this is related to one another but it may be the case.  I know very little about this disease and have been searching for a support group since I found out I had it (2 weeks ago).  I am 31 years old and have non-alcoholic fatty liver disease.  I have been going to the gym since and watch what I eat.  I have an appointment with the nutritionist next Tuesday.  All these years I wondered why me....why so many surgeries and now I believe I have found the route of the problem. 

 

The way I look at it is there is no where to go but forward from now on.  I don't know exactly what my numbers are yet, my doctor told me I had this disease and I left in a daze.  I will find out more on my next visit as I believe I have to get regular check-ups for my liver.

 

Thank you for sharing your story.  God Bless you and this wonderful site!

 

- Melissa Aguilar

Hi Melissa, I hope you are feeling better.  I am also glad that you found this website.  We have been working hard to learn more about this disease.  We have a strong support group at lalsolace.org.  We have been in contact with several doctors who have already done a lot of research on LAL deficiency, including Wolman's Disease and Cholesterol Ester Storage Disease.  These doctors have been very supportive and have made themselves available for questions that we may have.  We are in the process of starting up a non-profit organization to learn more about LAL Deficiency, educate others on this rare disease and hopefully help those who have been diagnosed with the disease. 

 

I am sure that you have read that there is currently no cure for Cholesterol Ester Storage Disease or Wolman's Disease.  There is a biopharmaceutical company who has been working non-stop trying to find a way to help those of us who have been diagnosed with these diseases.  I would encourage you to check out the clinical trials tab to learn more about what they are doing to provide us with some hope.  I believe my email is attached to my profile page.  Please get a hold of me if you have any questions about my diagnosis and/or what my experience has been living with Cholesterol Ester Storage Disease.  I am excited about what the future holds for those of us with LAL Deficiency. 

 

Thanks again for joining the website.  I am confident that there will be good things to come.  God Bless.

 

Brett

 

Thank you Brett for sharing your story! You have helped me feel better about this situation and especially knowing I am not alone and I have people to talk to about this disease.  I am def. going to explore the other tabs on this site alongside your recommendations to get more information.  Yes, I also heard there is no cure unfortunately.  I will defiantly keep in contact.

Hi Brett, how are you doing?  How have you been feeling these days?  I am watching what I eat but could do better.  My follow up is due soon with my doctor.  I am not sure what to expect. You are the only other person I know with CESD.  Any info would be greatly appreciated!  Do you have a facebook? 

Reply to Discussion

RSS

© 2019   Created by SandorMax   Powered by

Badges  |  Report an Issue  |  Terms of Service