my what's broken? (and update on Nate)

So, Dr H and I are becoming fast friends. Ok, maybe not but we have been chatting a bit. He called yesterday with some good news, Nathan is not currently anemic. He still had work to do though.

He called again this afternoon. He told me he wanted to talk about me for a minute. Turns out he got my full CT report today and he had a Diagnosis for ME. Medullary Sponge Kidney. He told me to go back to my urologist.

Alas, this doesn't help Nathan in the slightest. The problem I have is not at all genetic and doesn't fit Nathan at all. He told us that he still had to talk to Dr A (Nate's Ophthamologist) who wasn't in today but Nathan's urine came back showing he is wasting salt. He said this puts another check mark in the Nephronophthisis side of the puzzle. He told us that the salt wasting explains the polyruria and subsequent polydipsia, so we now have a reason for that, but we are not yet perfectly clear on the bigger picture.

He said he does not want to diagnose a disease like Nephronophthisis without being very confident that is the case, so he's not going to, at this point. He said that genetic testing won't help us, since only 2 of the 5 variants of the disease have known gene involvement. (They know which gene is responsible) What this means is that in the event that the super expensive genetic test came back "negative", we would be no better off than we are today.

He said that he was going to talk to Dr A tomorrow and call me again. He also said that although he knows how absolutely frustrating it may be to hear, we may be gearing up for a bit of a hurry up and wait game. We are in that horrible gray area and we may need to just give Nathan more time to give us clearer answers, repeat all of these tests in 6 months and see what happens. He told us that there is such a wide spectrum as to what is going on, that our son has kidney disease, but to give it a name and a prognosis at this moment is difficult.

I respect his hesitation. A diagnosis of Nephronophthisis is devastating. To know that our son would be in end stage renal failure before adulthood is beyond terrifying. To tell someone that without being confident would be irresponsible. I still absolutely adore Dr H. He has kept us up to date every single step of the way.

Honestly, I would link you to some info on this disease but it is so rare the most that can be found is in medical journals that without a decent understanding of Medical Terminology and physiology you would just scratch your heads. To explain it the best I can the juevenile form of the disease includes small kidneys that develop cysts which destroy the kidneys. This causes kidney failure 100% of the time, resulting in end stage kidney failure necessitating transplant in the teen years. It also includes other body systems, frequently the eyes (remember, Nate has cataract and progressively poor vision in his right eye). It usually manifests fairly early on with anemia, polyuria, polydipsia, and salt wasting. Obesity and mental retardation are common (the two things keeping him from the diagnosis, Nate is actually quite small for age at <3%> and by milestones, of average intelligence.

I'm so absolutely torn. I most definitely do not want my son diagnosed with a disease like NHPH but at the same time I just want someone to finally tell me what's going on and what to expect. The not knowing is about as horrible as it gets I think.

For now we continue to let him drink as he wishes and eat as much salt as he craves. And wait. Dr H will call me tomorrow after he chats with Dr A.