Monday, March 9, 2009

Questioning Peanut's Diagnosis

We had our every 6 month metabolic appointment last week, and I am still befuddled over it. :( The metabolicist was explaining to me that he absolutely does not think that her metabolic disorder (SCAD Deficiency) is her underlying issue. He's said that for a while now, but I've never asked him more. When I research SCAD Deficiency, I find things like microcephaly, developmental delay, seizures, growth issues, feeding intolerance, etc. Just about everything my Peanut has. I asked the genetic counselor via email to please explain why this wasn't the root of our issues. Here is her response.

"First, a little history. We currently perform expanded newborn screening on all babies born within California. This blood test can detect over 40 different metabolic conditions, including SCAD. Prior to newborn screening, SCAD was thought to be a rare disorder. It had only been detected in a rather small number of individuals who were undergoing metabolic/genetic work-up due to a variety of symptoms (developmental delay, low muscle tone, seizures). Once the biochemical findings of SCAD were detected, these patients were diagnosed with "SCAD." It is important to know, however, that many of these children had asymptomatic siblings who were also biochemically diagnosed with SCAD. Therefore, it is possible that SCAD was not the cause of the patients' symptoms. With the introduction of expanded newborn screening in 2005, we have come to realize that SCAD is actually fairly common. We have over a dozen patients in our clinic with this diagnosis and none of them are symptomatic. We do not doubt the diagnosis. We know that SCAD is an enzyme that helps to break down short chain fats and, if missing or not working properly, it causes elevated C4 and ethylmalonic acid. What we do not know is how important this enzyme is for the body to function normally. It seems possible that the enzyme just may not be that important and that SCAD deficient patients may never experience metabolic crises or may experience them only under very severe conditions. At this point, however, we need more information, which will only come from following these patients over time. SCAD may end up being a non-disorder that, in the future, we may not screen for. The fact that (Peanut) has one mutation and one polymorphism means that she probably makes a reduced amount of the SCAD enzyme, rather than none. This is not the reason that Dr. Abdenur feels SCAD is not the cause of her symptoms. Even if she had two mutations thought to completely eliminate SCAD activity, he would still feel that there is another diagnosis. To summarize, recent experience with newborn screening has revealed a large number of asymptomatic SCAD patients supporting the possibility that a deficiency of this enzyme does not place an individual at risk of developmental delay, seizures, microcephaly, etc. These previously described patients probably all have some other condition, but were found to have SCAD because of the large number of tests performed."

So it just echoes what the metabolicist has said all along, that SCAD does not define my Peanut's issues. The neurologist has labeled her with Cerebral Palsy, although he insists that she does not truly have it. They all think that she has some underlying genetic disorder, which we have not been able to diagnose. We have been followed since her birth by a geneticist, and have done a million tests. Blood, urine, lumbar puncture, skin biopsy, muscle biopsy. You name it, she's been tested for it. All with normal results.

I am trying to get into a new geneticist, whom our neurologist recommends. However he is not in our network, and therefore our insurance insists that I see the geneticist we have been seeing all along. I am arguing with them, I want a second opinion! Someone, somewhere, has to be able to diagnose my Peanut.

Her issues are: microcephaly, encephalopathy, abnormal EEG's with spikes indicative of the potential for seizures and unusual brain waves, severely globally delayed, non-verbal, mostly hypotonic with some areas being hypertonic, astygmatism, far-sighted, hirsutism, barrel chested, serious GI issues including dysmotility, oral averions, 100% g-tube fed, recurrent reflux after two Nissen fundo's, constipation, milk/soy intolerances. Occasional nystagmus. Slow growth, bone age is severely delayed.

I think that's it. She has so many issues, that it seems they HAVE to come from some source. Why can't anyone figure her out??


The VW's said...

She must be so special that not even doctors can label your sweet girl! She's a rare jewel...look at her! She makes me smile! Praying that you can get more answers!

Jessica mommy to Alex/ RTS said...

You know all of Alex's tests came back normal too. RTS is usally diagnosed based soley on clinical, and certain features. Im sure there are many other "syndromes" that dont show up in the tests, but if not enough people have them, there is no name.

Marissa said...

I understand and share your frustration. We have no diagnosis for Marissa yet, and I'm not sure we ever will. All the docs can agree on is that there has to be some underlying syndrome to tie in all her anomalies. She does not fit into any one syndrome.

It must be doubly frustrating to know she has a named metabolic disorder but to be told that is not the cause of her issues. I hope you are able to seek a second opinion. Everyone should be allowed to do that regardless of in-network or out-of-network.

(((Hugs))) to you,