Generally, the symptoms are treated. For examples, cleft palate will be surgically closed where present, hearing will be tested and aids prescribed as necessary, similarly bodily osteoarthritic joints may be replaced by synthetic, eyes treated with cryogenic or laser prophylactic procedures which can precipitate retinal detachment(s), early onset cataracts and glaucoma treated by the usual therapeutic protocols. Stickler Syndrome is THE most common cause of retinal detachment in children oand often presented as giant tears which are very difficult to repair, often leading to complete loss of sight in the affected eye. I could go on. Perhaps suffice to comment that not all affected individuals experience all of these problems. This fact is a major contributitor to underdiagnosis. The telltale diagnostic in my family was cleft palate at birth with repeated retinal detachment in later life. My doctorate was not medical, rather I have learnt all of this through bitter personal and family experience. Yet we all continue to trust in our Lord God and the saving grace of Jesus Christ. The Syndrome effects are a cross that we bear patiently and with fortitude. There are many, many more worse off healthwise in this fallen world.
Thank you for describing the condition and medical responses.
This is a new genetic condition for me to study.
Many health care practitioners treat genetic disorders as unavoidable. I like to expand my understanding beyond the small box to possibilities and solutions. You've heard of "the once of prevention is better than the pound of cure.".
For this, like most everything, there is no chemical based(pharmaceutical patents) cures. Few exceptions exist considering the trillions of dollars of money to be made for treating symptoms and the surgeries in the industries.
Arguably the father of epigenetics, Dr Joel Wallach, has solutions for some well known genetic expressions like Cistic Fibrosis and Muscular Dystrophy, earlier stages.
Epigenetics is a study of gene expressions that are often dynamic. Some are programmed to express in various ways depending upon nutrition, environmental exposures, activity, etc.
Just a suggestion , perhaps a place to start for someone in your family who is most inclined to listen and connect is with Dr Wallach. As a research Dr yourself, you are likely most qualified for this.
I've spoken to him many times, so I know from experience how approachable he is. Last we spoke, he teaches and answers questions twice/ most weeks.
If I were you, I would ask him about Stickler Syndrome. Perhaps he can point you in a helpful direction if he is not able to personally help.
Here's a sample short teaching responding to a question. The answer may save many lives.
