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Nobody knew of a similar case before. Genetic diseases sometimes are strange, but usually there are some cases in the medical literature that give some clue. This is not the case, and so far Syndrome X means that nothing is known about this case.
Reportedly all the biochemical and genetic tests have been normal for a 6-month old baby. There was no response to the administration of Growth Hormone.
This case demonstrates for the first time that there is one factor (gene) responsible for Child Development: growth and maturation of cells, tissues and organs. No one had ever envisioned the existance of such a gene. It was believed that there were multiple independent processes that regulated this.
Let me say that I am a Medicine PhD with research background and some genetic knowledge, which allows me to have a little speculation, although I am not the ideal specialist to conduct treatments or run the proper research studies.
This is most likely a genetic disease. The problem could lie in her mother, which, judging from the video, has a few asymmetric features in her face. She probably carries a single copy of the defective gene for this disease. The father looks normal, but he also might carry of copy of the defective gene. In the case of Brooke, but not in her 3 siblings, the sperm and the ovulus carried the defective genes, and the result was the full expression of this gene in the resulting baby.
There is also the possibility that the mutation (damage to a normal gene) took place during gametogenesis or early embryo development.
The mechanism so far is well known to Genetics specialists. However, we do not know which gene is affected, which is the protein coded by this defective gene, and how this protein regulates growth and development of a child.
How to identify this protein? This is a problem of tremendous importance, because it can be the clue of Aging and Anti-Aging.
If I was Brooke’s doctor, I would try a simple treatment: blood transfusions. After applying a weekly transfusion for a month or two, we could see if there was any growth. In this case, we both solved the girl’s problem and opened the way to identifying the missing protein.
Blood can be fractioned (plasma and cells) to see where the growing compound is. Fractioning can continue until we establish the size of the protein, which is the first step in the identification.
I would also try in vitro culture of Brooke blood cells and other biopsied tissues, to see if they behave as normal cells. Maybe they do not grow so well, and this behavior can be corrected adding human serum or serum fractions. It will also be interesting to see if she heals well the skin wounds.
Assuming we identified the gene that regulates Growth, we could try to block it. Anti-sense mRNA can be inserted in cells by carrier viruses, and block the normal gene. Also, many genes have regulators, that can be targeted by specially-designed molecules. Down-regulating the Growth gene could be useful to stop Ageing.
If any person at age 40 started the anti-ageing treatment, we might reach almost-immortality.
In any case, Brooke might carry the answer to many questions that scientists have had since the first man discovered the first gray hair in his temple.
