I feel very lucky that this doctor performed the test he did. I didn't even know he was going to do it. I guess he must of suspected. I can ask him if he knows of any doctor around your area that is familiar with CESD. I met with a nutritionist and she is also very familiar with this disease. She basically said eat chicken (white meat) with out the skin, no milk (use substitute like Almond Milk), if you eat rice eat a little of the brown rice, no fatty foods or anything greasy. I am trying that with a combination of the gym 3 times a week. I have only lost 3 pounds and wish it was more but something is better than nothing.
Hey there Brett. Thanks for taking the time to share your story and leave a comment. Since my diagnosis in 2008 I've been trying to gather as much information about CESD as possible. While I've talked to a few of my doctors and read many articles over the years, one thing that seems pretty set in stone about this disease is that there is no real way to treat it, only to diet and exercise in hopes of reducing the chances of heart attack/stroke later in life. Fortunately, this ongoing enzyme therapy done by Synageva seems to be making some progress, so some hope of future treatment can be found there. Hopefully I will be able to participate in any future trials they conduct.
brett...hanks very much for your response regarding my son's affiction with LAL Solace. i have forwarded your email to him and a three way connect we have.......thanks again and we will keep you abreast......as we hope you do.
As part of our ongoing work on Lysosomal Acid Lipase Deficiency (LAL D) Respondent Journey, sometimes called Cholesterol ester storage disease (CESD) or (Wolman Disease). Market Vision Research is working with Field Global to conduct research about how LAL D impacts patient’s life and how patient’s feel about the medical treatment for this condition. We are interested in patient’s opinions for “LAL D Respondent Journey” for research purpose only. I would like to reassure you that this study satisfies all requirements for a bona fide market research study; there will be absolutely no sales or promotion activities during or resulting from the discussion.
In appreciation of you referring the patient (in case of a Doctor) or agreeing to participate (in case of a patient), following Incentive would be provided.
Patients would be provided with a token of 140 USD for successful interview through telephone and 240 USD for Facility interview in New York.
Hi ! Im 42 , and have had high alt and ast liver function tests , after many months the gastro sent me for a liver biopsy after getting a second opinion the pathologist said it was LAL D . I now am awaiting a genetic blood test for it . I am very scared and need more information , the gastro called it a "vitamin defiency" which clearly it is not . Any information about you or anyone elses story would be appreciated ! thank
Hi Dorothy, I am 46 yo and was diagnosed with LAL D after two years of being sent to just about every specialist that you can think of. Once I was diagnosed, it was a bittersweet moment. I found out why my enzymes were elevated, but there was no treatment. In 2011, a biopharmaceutical company called Synageva started a clinical trial for patients with LAL D (aka cholesterol ester storage disease and wolman's disease). I was the first patient to be infused with a genetically produced enzyme. I am still on the trial. When I first started the trial, my liver biopsy showed that I had an extremely fatty liver. They did another liver biopsy just over a year ago which showed that my liver was no longer fatty and my cholesterol was back in the normal range. The enzyme replacement therapy clinical trial has shown some impressive results for those who were in the trial. It has saved several babies who were born with the most severe form of the disease. Those babies are living happy normal lives with this treatment.
The medication is introduced intravenously once every other week. It was FDA approved late last year. When you get your blood test results back, I would contact someone from Alexion who purchased Synageva last year. Alexis has a group of nurses who assist patients with getting their health insurance to cover the treatment and attempts to find ways to assist with the co-pay. This team from Alexion is called One Source. If you look up Alexion and find a number, you can have them put you in Contact with One Source. If you do not have any luck, let me know. I will make sure that I put you in contact with the correct person. Please let me know if you have any other questions. I know that it is a scary time right now. Hang in there.
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