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Hurler Syndrome, or MPS 1H (Mucco Poly Saccharidosis type 1H) belongs to the group of autosomal recessive genetic metabolic diseases. A child can only be affected with this disease when both parents carry the same defective gene, and they both transmit the copy of this defective gene to their offspring. Therefore, with every pregnancy they stand a 25% chance to give birth to a very sick child.
On average, the possibility of the two partners of the couple having exactly the same defective gene is about 1 in 30,000 and the chances of giving birth to a child with the Hurler Syndrome is therefore 1 in 120,000 ! Rather unusual I would say, but we seemed to have “hit the Jackpot”…
MPS-1H is a terminal disease, and the untimely death is preceded by a horrible debilitating process. Most MPS diseases are caused by the inability of the body to produce a certain enzyme. Enzymes are indispensable to the body for breaking down several substances into their subcomponents.
Since these children lack a particular enzyme, they cannot break down this substance and it will accumulate throughout their bodies in every cell. This will in turn vastly disrupt or even render inoperable the normal working of these cells. The result is a slow mental and physical decline, and ultimately even an early death in the more serious instances of MPS.
In Yasmine's case, the Hurler Syndrome causes the absence of the enzyme alpha-L-Iduronidase.
Children with MPS are usually born in perfect health and without any apparent external trace of their internal and terrible slumbering disease. As the months go by however, more and more "problems" come to the surface. These MPS diseases are so uncommon that most doctors don't know about them or do not recognize their symptoms. In our case we soon began to notice that Yasmine was frequently ill and taken with infections of the upper airways and the ears (otitis media).
We were lucky in that we continued to search for the reason behind these frequent illnesses, and consulted one doctor after the other. One day our good friend Liesbeth referred us to Prof. Dr. De Boeck in the hospital UZ Gasthuisberg. She almost immediately recognized the symptoms and referred us in turn to Prof. Dr. Jaeken, an expert in the field of metabolic diseases.
With these diseases it is extremely important to obtain a correct diagnosis in the early stages of the disease, in order to limit the already sustained damage to a minimum. Some types of MPS do not react to any treatment whatsoever, some other types can somewhat be controlled with a very strict diet, and for still other types including Hurler there is no other alternative but a bone marrow transplant.
The coordinator for Yasmine's transplant is Dr. Renard. She telephoned constantly all over the world and kept up the search for a suitable donor with the tenacity of a pitbull. After a first disappointment with umbilical cord blood, that turned out to be incompatible, Dr. Renard finally did find a perfect match for Yasmine.
There also exists a new therapy in de USA, manufactured by Genzyme and Biomarin. This ERT (Enzyme Replacement Therapy) uses regular infusions to administer the missing enzyme to the patient. The name of their product is Aldurazyme. This therapy is however still not a medication, since the administered enzymes cannot cross the brain blood barrier en therefore cannot remedy the decline of the brain cells. For patients, for whom a bone marrow transplant is out of the question, it is however the only hope for improving.
There are also experiments with gene therapy, but this research is unfortunately still in an infant stage and is furthermore heavily opposed by the inevitable "Knights of Morality", who do not condone such research because it is not "ethically justified". These critics probably haven't actually met a child that is fighting against this terrible disease !
All Yasmine's pre operative tests were rather favourable,
and she seems to have a good starting point to profit to a maximal extent
from the bone marrow transplant.