diagnosis ideas for 17mo

[4loveoflife]

A very good friend of mine has come to me with questions on her 17 month old's troubling health condition, that dr's cannot seem to figure out. She has taken him for blood work several times over the past few months, and is scheduled to again next month to get more blood tests, and also they want to do an ultra sound to see if his liver and spleen is the right size?? . So far, however, doctors have no clue.

His symptoms are this:

It started out with trembling in his arms.

He passed a year and could not walk (ie, lack of motor functions)

more troubling that that...he has STOPPED crawling, which he had been doing for several months. He has not said one word either, motor functions of hands are there, but slightly. He struggles to pick things up and hold them in his hands.

Well, I originally thought maybe autism? Especially since he has taken a few steps back as far as progess in his motor function. She thinks it is parkinsons desease, but I think that is rare to surface in a 17 mo, right?

Any ideas would be appreciated, he is the cutest, most addorable little guy and she is going out of her mind trying to figure things out...I know she wants to help him have a good life, but is is difficult when doctors keep saying they just dont know and without any clues as to what ails him, well, how will she be able to help?

Let me know if these symptoms sound familiar to anyone. Thanks

-Christina

[Jolie, BSN]

It is not troubling that he wasn't walking at a year, but his deterioration in other motor skills is very concerning. I don't know where your friend is, but she needs an immediate referral to a Children's hospital or at least a major teaching and referral center. I would recommend neurology as the specialty with which to start. I have a friend whose grandson has Canavan's Disease, and this sounds similar to what he has experienced. Best of luck to your friend and her son.

[4loveoflife]

Thanks Jolie, I am looking into Canavan's desease now on the web, and will mention this to her. She is in Pittsburgh, and her doctor refered her to Childrens Hospital. She has been there for a first series of tests and is going back later this month.

[4loveoflife]

Oh my, wait a second, I just found out that there is no cure for this and it causes death. Yikes, that makes me not want to tell her unless I am really sure this could be an option, as I dont want to scare her. But then again with those symptoms he has, almost has to be something rather serious I would think, and yes nuerological.

[allele, LPN]

Okay, let me start by saying I do NOT work with peds, so I could be WAY off here, but have they tested for Tay-Sachs? I hate to even mention it, terrible disease, but it sounds a little like it. Again, just throwing something out there. I hope they find out what's wrong with the little guy!! Here's a page I found on basic info on the disease.

http://www.ntsad.org/pages/t-sachs.htm#What%20is%20Tay-Sachs%20Disease?

I'll keep your friend and her son in my prayers!

[Mimi2RN, ASN, RN]

Unfortunately, it does NOT sound good at all. A baby who becomes weaker and who loses function may well have a fatal disease. Unless, of course, there is already a cure. We had a 5 month old hospitalized, whose skills were deteriorating, who had a very rare disease, with poor prognosis. Can't remember the name of it, though.

I also know of a baby with Tay-Sachs who has had a different new tx. So far he's doing well at 17 mos. I pray that this continues.