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+ Facts and Figures
- LSDs affect roughly 1 in 7,700 children born
- There are an estimated 3,500 or more people living with LSDs in South Africa, yet only 80-90 have been diagnosed and are on treatment.
- There are at least 50 different types of LSDs
- They are genetic and life-long conditions.
- The first LSD - Tay Sachs disease, was first described in 1881.
- The most common LSD is Gaucher Disease which affects 1 in 40 000 people, there are an estimated 70 people diagnosed with this condition in South Africa.
- LSDs as a group affect nearly every bodily system
- Whilst some people with LSDs may gradually progress over time, others suffer from rapidly progressing disease resulting in death in the first year of life.
- There is no cure for LSD's, but there are treatments to manage the life changing and debilitating symptoms associated with these diseases.
+ What are Lysosomal Storage Disorders?
- LSDs are a group of conditions in which the enzyme responsible for breaking-down and recycling a particular cellular product is deficient or absent.
- Within cells, enzyme are found in sac-like bodies called lysosomes. The lysosomes and the enzymes they contain act as the 'waste disposal' or 'recycling' unit for each cell.
- When an enzyme is absent, the lysosome will still attach to the molecule it is targeted to breakdown. Because there is no enzyme, the lysosomes become increasingly enlarged due to the accumulation of the unbroken down substance, which is where these conditions acquired their name,
- All the symptoms that result from a particular LSD are related to the accumulation of waste within certain cells.
- Because some of these waste products are naturally found in higher quantities in different parts of the body, different LSDs cause different symptoms.
+ What are the signs and symptoms of LSDs?
While the exact symptoms depend on the enzyme which is lacking or dysfunctional, some of the warning signs of a possible LSD include:
- Family history of a LSD or a sibling born with a LSD
- A combination of features such as certain abnormal facial features, abnormal bone growth, heart abnormalities and eye abnormalities.
- Enlarged liver and/or spleen
- Blindness and deafness
- Symptoms of neurological or mush dysfunction such as intellectual impairment delay in learning to sit, crawl, walk or talk.
- Increased rigidity of the muscles and seizures.
- Gradual deterioration in functioning where a child is able to, for example, walk is unable to do so any longer (known as regression)
- Problems with growth (very short in stature)
- Easy bruising, bleeding, anaemia
Anyone with these symptoms should be checked by their doctor, pediatrician or physician.
+ How is a LSD diagnosed?
- LSDs are diagnosed through a blood test which detects the active enzyme levels in the body.
- The doctor needs to have some clinical suspicion of which enzymes to suspect for.
- The enzymes test cost between R250 and R300 per test and results take 10 to 15 days to be available.
- In some LSDs, specific genetic tests are available to diagnose the condition.
- Always advisable to do 2 different tests to confirm the diagnosis.
+ What are the treatment options?
- There is no cure for LSDs.
- General treatments such as Physiotherapy and OT are vital in maintaining muscle function and brain function.
- For some LSDs certain dietary changes or restrictions can help to control the condition.
- In severe cases, stem cell transplant may be tried although this is still considered "experimental" treatment.
- Replacement of the missing or dysfunctional enzyme is a breakthrough in medical treatment and has only been available in South Africa since 1994.
- Worldwide, Enzyme replacement therapy is available for Gauchers disease, Fabry Disease and Pompe Disease and MPS I, II, and VI (1,2 and 6). Locally ERT is available for Gauchers, Fabrys and Pompe, however ERT for MPS I,II and 6 is not yet registered locally yet, but can be approved with permission from the Medical Control Council.
- ERT needs to be given intravenously on a regular basis and is an On-going treatment.
- ERT cannot reverse all underlying damage of an LSD, so the earlier it is started the better the outcome.
+ What are treatment costs and cover?
- The dosage of ERT depends on the ahem weight and severity of the disease of the affected individual.
- The costs of the ERT range from R28 000 and R350 000 per month depending on the enzyme replacement therapy, dose required, weigh and severity of the disease.
- Treatment does not cure the condition, but keeps it under control - much like insulting in diabetes. It is therefore needed life-long.
- Medical aids in South Africa are required to cover most LSDs as a Prescribed Minimum Benefit. This means that, provided the person has no waiting periods on their Scheme, they are guaranteed cover in full for their ERT.
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