My 8 yr old son Connor was recently diagnosed with an incurable rare genetic disease, called Cholesteryl Ester Storage Disease or LALD;
Lysosomal acid lipase (LAL) deficiency is an inherited autosomal recessive lysosomal storage disorder. It is caused by a deficiency of the LAL enzyme resulting in abnormal accumulation of lipids in cells, organs and tissues, primarily in the gastrointestinal, hepatic and cardiovascular systems. LAL deficiency in infants is known as early onset LAL deficiency or Wolman disease. This is the most severe form of the disease normally resulting in death in the first 6 months of life, mainly due to growth failure. LAL deficiency in children and adults is known as late onset LAL deficiency or cholesteryl ester storage disease. It is typically diagnosed in childhood or adolescence and involves hepatic and cardiovascular problems including hepatomegaly, cirrhosis, liver failure, dyslipidemia and accelerated atherosclerosis, normally resulting in death before the age of 30.
The prevalence of LAL deficiency in England is unknown. It is estimated that there are approximately 3 to 4 people with early onset LAL deficiency, and approximately 20 to 40 people with late onset LAL deficiency in England. There were 36 admissions for LAL deficiency during 2010-11. LAL deficiency affects men and women equally.
There is currently no treatment for LAL deficiency. Although enzyme replacement therapies are used for treating people with lysosomal storage disorders characterised by specific lysosomal enzyme deficiencies, none are currently available for treating people with LAL deficiency. Medical management is aimed at controlling symptoms and managing complications. Bone marrow transplantation, with intravenous nutritional support, has been used on an experimental basis for treating people with early onset LAL deficiency. A low-fat diet and cholesterol-lowering drugs such as statins are used to lower high levels of cholesterol and other fats in the blood in people with late onset LAL deficiency. These treatments have limited efficacy and have not been shown to improve the underlying disease.)
There is a new trialled, effective, & licensed treatment called "enzyme replacement therapy" which is the only known effective treatment to give Connor, to slow down & manage this progressive disease, however it is currently sat with the "national institution of health care excellence board" who have not yet reached a decision on whether to market this treatment on the NHS due to the cost & other factors. Without this treatment Connors condition will just continue to worsen. Please help us so we can make the N.I.C.E board make the right decision to release this treatment for Connor & any others out there suffering from this disease xx