SCAD IS a REAL Disorder!

[This was part of an Editorial from Deb (FOD Director) in the July 2007 newsletter, and has been edited ]

As for the ‘your disorder is a NON-disorder or your mutation is not clinically significant and doesn’t need to be treated’ issue: then why are many of the affected individuals I speak to every day so symptomatic during times of illness, stress, etc??? We are hearing from SCAD Families that are being told SCAD is one of those NON-disorders ~ these comments really concern me. As Mary, our webmaster, commented to me, if someone was diagnosed with skin cancer, one that might be considered ‘mild,’ do you think they’d just let it go without treatment?  Most likely NOT ~ they would treat it so it would not become more complicated and cause more medical problems and possibly a fatal outcome! In my opinion, if one has a metabolic disorder they either HAVE IT or they don’t (just like being pregnant – you either are or you aren’t) so TREAT TO PREVENT COMPLICATIONS—why get stuck on whether it MIGHT be a so-called ‘mild’ case or a so-called NON-disorder??

If some professionals don’t think it’s a REAL disorder then why don’t they RENAME it to reflect what it truly IS just like they did with LCAD years ago ~ renaming and re-diagnosing many initially diagnosed with LCAD with VLCAD. The same applies to some initially diagnosed with LCHAD ~ only to be re-diagnosed with Trifunctional Protein Deficiency (TFP) a few years ago. Yes, some of our Families have a dual diagnosis of an FOD and a mito disorder ~ so why don’t they do further testing on these ‘NON-disorder’ kids and find out if there’s something else going on instead of just calling SCAD a NON-disorder and telling the parents no further treatment is needed!?

So what’s next? If SCAD (or ANY of the FODs) is a so-called ‘NON-disorder’ [or some mutation is termed 'not clinically significant' - except when you get some health professional to totally disregard the Emergency protocol and put a child/adult into crisis!] are we going to have NBS Labs making the decision to NOT tell Families that their baby screened positive for it because it’s NOT a REAL or SERIOUS disorder?? I would think that would be pretty dangerous to NOT tell parents. Also what impact will being labeled a NON-disorder or not clinically significant have on the entire Expanded NBS process? Will states be the ones to just drop the disorder because SOME THINK it’s a NON-disorder!? Again, I think that would be setting a very dangerous precedent.

As many have learned, these disorders can ‘wax and wane’ over time ~ who’s to say some trigger won’t put an affected individual in a crisis? Individuals have DIFFERING THRESHOLDS for when they may present with symptoms. And if one is diagnosed and treated at BIRTH, most likely they WON'T experience the same types of symptoms, and as often, as others that went UNdiagnosed and UNtreated for several years!

SO...what happens when the parents happen to mention to the ER Drs that they were told their child/self had a ‘mild’ case or that their disorder was termed a ‘NON-disorder’ and then the staff dismisses the seriousness of immediate treatment?

What are you going to say to those parents when that child/adult is medically damaged or died because it wasn’t taken seriously enough ~ all because someone told them they THOUGHT SCAD (or other FOD/mutation) was a 'Non-disorder' or 'not clinically significant'?! 

Think about THAT folks!

DLG