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??

Complete Turn Around

Cross your fingers, knock on wood, but it seems that somehow my Peanut kicked this virus super fast and easy! She hasn't had any cold/cough meds in 24 hours even. Woot!!

Sick Little Peanut

My Peanut is sick. :( I was hoping she wouldn't get it, but since everyone else in the house has had it, she was doomed. Unfortunately she doesn't just "get a cold", so PLEASE pray that it stays mild! She spit up her meds and food this morning. I need her to keep down at least Pedialyte to avoid a hospital stay.

Please also keep little Gavin in your thoughts, while he's in the hospital fighting something icky too. I hope he gets to go home healthy soon!!

Photo Shoot Tomorrow!

We have our Littlest Heroes Project tomorrow, in the park! I am soooooo excited. I cannot wait to share the pictures!

Bring on the Bling Bling!

I just love this picture of my Peanut in all her beautiful smiling glory! I just wanna smooch her chubba-wubba cheeks. :) (those of you with special kiddos like mine, look at that standing with mininal assistance!)

In other GREAT news - she tolerated a Z-Vibe in her mouth for ten seconds today! She let her OT put it on her lips, and then on her bottom front teeth. She even bit down on it a tiny bit.

This is huge huge! She has never tolerated anything in her mouth for ten straight seconds. I literally cried. Silly I know, over ten little seconds. Except that in OUR world, ten seconds of something in your mouth is HUGE HUGE HUGE.

This is where I remind myself that just because she did it today does not mean that she'll ever do it again. I doesn't mean that anytime soon she'll tolerate it again or more even. But here's hoping!!

I'm baaaaack!

My computer had a seriously nasty virus and it took weeks to get it fixed. Today though, I am sitting here typing on Miss Piggy (my lapto0p is pink). I am relieved to say that all my photos were saved!!!! Thank heavens.

My peanut is doing great right now, for the most part! We have a recipe from the dietician of baby food and cereal. I mix it up at night, and we split it into three boluses during the day. Then she gets formula/fluids at night. Her recipe includes baby meat, veggies, fruit, cereal, and some extra things she needs. She is tolerating it just fine!

You cannot imagine how much I love mixing her food up. I get such a thrill every time I go to the grocery store and buy baby food. I have always wanted to feed her. Even though it's not going in her mouth, I am happy that she is getting normal food.

The only problem is that it's constipating her, even if I use prunes as the fruit eery other day. We are working on that issue.

In therapy she's doing great! We are working on walking in the reverse walker still. She still hates holding on to it, but she is great at stepping. We stand her up against the wall and let go, she is doing good at that. I'll have to take a picture soon!!

This is short because I have a ton to catch up, and so much going on. I am chairing the talent show at Monkey's school, and it is a TON of work.

I am so happy to be typing on Miss Piggy, and back here blogging!!

Virus

My laptop has a seriously bad virus, to the point that I might not get back "my documents". You know, the photos I've taken for the last how long?

I want to cry. :(

Just thought I would post real quick in case anyone wonders where we are. We're here, and actually tubing REAL food into Peanut! Just computer-less. :(