Harold Garcia60 said:Thank you. For the last three months, I've been diving deep—reading journals, scientific papers, patient stories, watching YouTube videos. It’s been an intense education on this condition. Because you clearly have a much deeper grasp of this than most doctors we've encountered, I would be grateful if you could answer a few questions. We are still waiting on the genetic results; we sent the samples to a lab in Newcastle Upon Tyne back in early December.
If the condition is well-managed, does that reduce the risk of complications, or is the probability still the same? What specific complications are you aware of? As you mentioned, there is a possibility of sensorineural hearing loss due to Enlarged Vestibular Aqueduct (EVA). To be honest, that is our greatest fear, and it's something we are struggling to accept. Since the deafness is driven by specific gene mutations, my question is: is there any hope? Any chance of a cure, whether natural or "official," to prevent it?
Additionally, nephrocalcinosis has developed in both kidneys. I'm attaching photos. Is it possible to cure or completely remove nephrocalcinosis through any means?
https://ibb.co/K207ZkS
https://ibb.co/2WN5Ng1
Forgive the many questions, but processing this diagnosis for our son has been overwhelming.
Dear Sir,
Since it is quite late, I may have overlooked some of your inquiries. I will provide brief answers for now and perhaps expand on them later.
Regarding treatment: based on current medical knowledge, nothing available can slow down, delay, or prevent hearing loss if it is genetically determined. Nothing has proven effective yet. At this stage, the only options remain hearing aids or a cochlear implant if the hearing loss progresses.
As for the nephrocalcinosis, therapy might slightly reduce it, but expecting a total reversal is unrealistic. Based on what we know today, complete removal isn't possible. However, treatment can prevent further progression, help preserve kidney function, allow for normal growth and development, prevent bone density loss, and lower the risk of kidney stones.
The known complications associated with this condition include: growth and developmental delays, rickets, osteomalacia, nephrocalcinosis, kidney stones, impaired renal function leading up to chronic kidney failure, kidney cysts, dental enamel issues, hemolytic anemia, and hearing loss in cases involving distal renal tubular acidosis. I may have missed something else given the late hour.
Therapy can be used to manage the issues I listed above.