Tuesday, March 31, 2009

Peanut got better test results today than I did ....

She did AMAZING at her eye exam today! I was so proud of her. She hated the drops of course, but stopped crying the minute they were done putting them in. She has huge pupils normally, so her eyes only dialate a little bit. He said that her far-sightedness is GONE! She has totally normal near/far vision. Her astygmatism is only a tiny bit different, which is great news! He wrote a prescription for new glasses but said to go ahead and wait until we need them, because it's such a minor change. WOOHOO for a good appt!!

Oh, and I must mention .... I was holding her on my lap, facing the Dr. She was using her arms to push away his tools (go Peanut!). I managed to keep her arms under control, but then WAM. Directly in his crotch, she kicked. He scooted back on his stool and said "Oh crap!" LOL She had good aim. ;)

Now for my results. I got my MRI results back and they aren't great. :( I don't know what it all means, and my Dr is sending me to an orthopedic surgeon for follow-up. It definately shows osteoarthritis. Chondral thinning, bone spurs, and bulging discs in my spine. My spine and right hip are "full of arthritis" as the Dr put it.

Why the right hip, when the left hip is fine? Because that's the hip I carry Peanut on. I try to switch her to the other hip, but it doesn't work. She just slips down. So for 5 and a half years I've had a heavy lump on my right hip, and my body isn't happy about it.

I am nervous as to what the orthopedic guy will say. I definately don't want any more surgery!!! In the meantime, she told me to take over the counter pain meds and she'll call me in something stronger if I need it. You know, for those nights when I don't have to get up through-out the night with Peanut ..... ;)

Off to the opthamologist

Peanut has an eye exam with a new opthamologist today. It's a dialated exam, which is always a bit horrible. She hates these appointments! Her eyes change so much from year to year that I never know what to expect.

I am so nervous. I can't wait until this morning is over!!

Thursday, March 26, 2009

One last picture

Somehow I deleted this one. I wanted to post it and ask other moms of low tone kids if your child has bat wings like this? I don't know how else to describe it! LOL Her shoulder blades seem to poke out sideways like this, under her arm. Do your kids do that too?? The PT says it's just ligament laxity, and nothing to worry about. It definately looks peculiar!

Picture Palooza!

Evidently our old dog decided she wasn't going to move as I tossed all the dirty laundry in one corner! She continued to sleep here for another hour. LOL

This is Monkey, showing off his solar system project in class.

Mmmm ... we had a green jello poke cake for St. Patrick's day!! :)

Don't laugh too hard at my decorating. Seriously, ignore that pathetic blue thing that was supposed to be a clover. ;)

We also had green pancakes one day for St. Patrick's Day. Yumm!

What's cuter than a princess with curls??

When she really laughs hard, she smiles so big her eyes squeeze shut. Don't you just want to pinch those adorable cheeks!!!

Seriously, too cute. Deliciously cute!!

And all that hair .. curly, think, out of control.

Laughing her head off. Seeing this smile makes EVERYTHING okay!

Check out my hair!! Since I've been getting real food through my g-tube, my hair and nails are growing like nuts!

Peanut in her new big girl bed. A turned around Ikea day bed!

Seriously beautiful sleeping angel!

Don't you just wanna snuggle her!

Those are some recent pictures, I realized I hadn't posted many lately. I might be biased, but I think she is truly the most adorable thing EVER!! :)
I have our Little Heroes photos back too, I will get them posted soon.
Thanks for checking in on us!

No wonder we sedate her for MRI's!

Oh my gosh, I had no idea how loud and claustrophobic the MRI machine is! I had one today on my cervical spine and my hip. I have a pinched sciatic nerve and other mysterious pains in my right hip and leg, and my lower back. I know it's from carrying Peanut. I always carry her sitting on my right hip. It just doesn't work on my left hip! I've been going to PT for the pain for over a month with no relief, so I was sent for an MRI today.

Wow ... it's LOUD! And you have to lay perfectly still. In a position that was triggering the exact pain. OUCH! 17 minutes for the spine scan, and then 17 more minutes for the hip scan. I was practically in tears by the time they were done.

Now I understand why we sedate Peanut before we MRI her!!

Friday, March 20, 2009

Yay for weight gain!

Wouldn't it be nice if MY biggest problem was that I lost weight and the doctors were upset? LOL My peanut had lost weight at her last metabolic appointment and they weren't very happy about it. So I was reaaaaaaal nervous to have her weighed at her GI appointment this week. Thank heavens she was back to her normal weight!!! That means that she's doing fine on the baby food diet after all.

We have set some goals for her, I am hoping they are not too lofty. We are going to try weaning her off two medications she has been taking for her stomach. She takes Nortriptalyine for retching and Neurontin for gut hypersensitivity. Since we took her off the Beneprotein and started giving her real food and no soy/dairy, she rarely retches. So we are going to try her off these two meds (of course, trying one at a time) to see how she does. I would love love LOVE to get her off some medications, she takes too many!

Secondly, we have a goal that by the end of summer, we will have her completely on a blended baby food diet, and no formula! This is so exciting to me. Even if it's all going through her g-tube, it makes me so happy to feed her food. Fruits, veggies, meat, baby cereal. It's just so much more "normal"! If we can get her on an all food diet through the day, then she would only need one bolus of pedialyte in the middle of the night for hydration. How amazing would that be?? The GI and the dietician want to start working on this at the beginning of summer. That way if we have some rough nights, we won't worry about her and her brother, The Monkey, being too tired for school. Smart thinking, huh!

So it was a great appointment this week. It's nice to leave an appointment happy and hopeful!

I ordered Peanut a new MedicAlert bracelet today. Her account needed to be renewed, and (blushing in shame) she hasn't had a bracelet for two and a half years. Yes, I've paid all that time. Convinced I would call "next week" and order a new bracelet. Silly me! So today I did it. Can you believe that her wrist measures under 4.5" around?? SO TEENY! Anyway, all the information on her bracelet needed to be changed from the last one (no broviac or TPN thank goodness!). So in 7-10 days, we should have a new bracelet for her. And of course, it's purple. :)

Does anyone else have MedicAlert for their kiddos? It was so hard to figure out what to have engraved. I wanted every important thing on it, but obviously you can't fit it all. The nurse at MedicAlert told me what she thought was most important, and then I disagreed a bit, and we comprimised. LOL Her metabolic disorder needs to be on there, no doubt. She thought that developmental delay should be instead. I told them "They'll see that she can't walk, but they won't see that she's quickly becoming acidotic and going into a metabolic crisis". In the end, I won. It was tough to decide what to list as most important! Of course a latex allergy is at the top of the list. I hope I'm not crazy, and this is hard for other moms too. Sometimes I feel really overwhelmed.

All in all, things are going great. We just got our Little Heroes pictures back, so I will upload them here soon. I can't wait to share them, some of them are SO great!!

Wednesday, March 11, 2009

Stupid insurance people!

Okay, wouldn't common sense tell you that if you have a child with a neurogenic bladder (which I forgot to list on my last message) and she is catheterized all night, every night ... that you MIGHT want disposable gloves? Okay, let's say that the urologist told you that you as the mom don't need to be gloved and sterile, just "clean cath'ing". But home health nurses catheterize her 5 times a week. They are mandated that they have to wear gloves!

Yet our insurance company says that unless the patient is a quadraplegic, paraplegic, or has encopesis, you do not get disposable gloves.

HUH!?!?!?!?! Sure, they're not THAT expensive. But the little things that aren't covered, add up!

Stupid insurance company. I need non-latex gloves, in bulk.

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??

Thursday, March 5, 2009

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!!

Tuesday, March 3, 2009

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!!