Is it worth seeing a geneticist?

[Cind]

We are exploring a visit to a geneticist. Do people tend to get good info on underlying (metabolic or other) disorders which have treatments? Do they run an exome sequencing test? Do they do something similar to Courtagen? Would Courtagen be more useful?

[jan251]

It depends on what you mean by geneticist.  Long before pandas, we saw genetics at our local Children's hospital, not once but twice over the years (the second time after cardiology found a cardiac mutation).  6 month wait for the appt.  Walked away with nothing, not even bloodwork, because they couldn't put together any of his eight thousand weird medical oddities.  A regular geneticist will look for symptoms of a genetic condition and then do bloodwork looking for related genes.

In contrast, private genetics specialists (like Courtagen, I think?) will run the genetics testing, either the exome or something simpler and less complete, and then see what turns up.

An easy, cheap way to start out would be to get the 23andme ancestry testing, take the text data file and run it through some free interpretation sites like genetic genie and healthcoach7.

[4Nikki]

I think it depends are what you are looking for that affect your approach toward treatment. Certainly the negatives are the cost impact and getting a preexisting classification with you insurance company for what is found. For DD, it would have been $2,000 out of pocket, We already had a clinical diagnosis so getting the genetic test had no tangible use for us. So for DD it was a no.

[kimballot]

My son is 20 years old now and has struggled with PANS for most of his life due to immune deficiency and chronic sinusitis.  Recently we began seeing a local immunologist who does lots of work with metabolic disorders, believing that mitochondrial dysfunction is the root of much immune dysfunction since we need mitochondria to form inmmune cells properly.  He did extensive blood work, followed by a muscle biopsy, and then genetic testing.  All tests found abnormalities that eventually led to discovering a genetic mutation in a gene that helps mitochondria to function properly.  This really helped us to make sense of everything and he is now on mitochondrial supplements.  He has only ben on for a month, but his immune numbers looked better than they ever have on his most recent bloodwork.    

[4Nikki]

Dd had a very similar reaction to mito support. Many of her symptoms have reduced more than 50-90%. We've been following the pandas doctor and never thought there might even be a mitochondria specialist. Turns out Mitochondria disease is a thing. Not sure if its dd's thing, Although dd is diagnosed with an unknown autoimmune illness and Pandas too. 

[Wombat140]

I was prescribed mitochondrial support supplements once (didn't end up taing them for one reason or another), but they just seemed to be B vitamins and animo acids and such that you might find in any amount of other supplements.  How's the mitochondria-specific supplements meant to be so different?  (I even e-mailed the practitioner at the time, but got no explanation only words to the effect of "it IS different, it is formulated by experts and it IS worth the [very large] price"!  )

[jan251]

On July 4, 2017 at 6:40 AM, kimballot said:

He did extensive blood work, followed by a muscle biopsy, and then genetic testing.  All tests found abnormalities that eventually led to discovering a genetic mutation in a gene that helps mitochondria to function properly.

Do you happen to have any info about the mutation, such as a gene name or rs number?  Thanks!  (we are now at the treating sinus/considering PEX stage of this mystery)