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So, I’m back, probably getting into trouble today on the boards. LOL!
Us older members seem to have a knack for opening our mouths & letting it all come out! LOL!!! Anyway, a little birdie asked me to add my thoughts on something, so I did…and then some. Then I saw some familiar names around & figured I’d post here & update y’all.
Well, Emma is doing good. She is now walking (has a limp, but it’s not stopping her!), on her way to running!! She is saying some words & signing like crazy! Her personality is WELL DELELOPED!! LMBO! She keeps us on our toes & is one strong-willed little girl. Can’t imagine where she gets that from!
jOnto the hum-drum medical stuff… She began anti-seizure medicine last week b/c she had to spikes on her EEG. They have suspected seizures for some time (since she was about 4 mos), & they finally caught something strange on the EEG so we are trialing medicine. She was in the hospital in Jan for Rotavirus, Metabolic Acidosis, & RSV. Quite a tri-fecta! ARGH! She recovered & then some, weighing in at a whopping 23 lbs, 5 oz this week!! She gets 30 oz of Neocate via the feeding tube & samples food here & there, still working on that. She’s still in therapy–ST & OT 1 x per week, PT 2 x month.
After running some tests, the docs now feel Emma has a mitochondrial disorder. We now feel like we are in the ballpark as far as a diagnosis goes. Before, it was look at symptoms & basically draw straws to pick what disorder to test for…because they felt she had something genetic. However, this changed when her Acylcarnitine Profile came back abnormal & her SGOT Liver Enzymes were elevated. So, putting this puzzle together got easier–they finally had some answers from Emma. So, we head to Houston in June & she’ll most likely have a skin and/or muscle biopsy done, hopefully getting an answer before fall.
In the meantime, her geneticist put her on L-Carnitor (carnitine) & we’ve seen some great changes in her strength & stamina. We’re hoping that with a solid dx, there may be other supplements that can help Emma. She’s back on Prevacid b/c of wretching, it has helped. She goes next week for tube replacement, possible adenoidectomy, & then an ABR test (hearing). We’ll see an endocrinologist next month & the GI suggested doing some fasting studies on her (her sugars dropped very low in Jan).
We saw GI this week & he was happy with her growth, wants us to keep doing what we’re doing…AND, we don’t have to go back for 6 months!! That is AWESOME!
Wow, this was long, but now you know all you need to know about Emma. LOL! Big Sis Madi is doing good, we register her for kindegarten in a few weeks (OMG!), can’t believe it! Hope everyone is doing well! Take care!
Laurennnnnnnnnnnnnnnn
so glad to see you back!!!!!!!!!!!!!!!!!!!thanks for the update; I know Emma can help others as they struggle through this stuff…
Kindergarten, whoa…
~laura
Hi Lori,
I hope Hailey is not having seizures, and I am so glad they are doing an EEG. Emma started between 4 & 6 mos with episodes of head-drops (out of the blue, she’s lose neck control, one day even hitting the high chair tray), she’d also have staring episodes. The head-drops haven’t occurred since about 7 mos, but the staring episodes continue, she also freezes up at times, has giddy periods where she is weaker, leans her body back & looks up with a strange laugh, & a lot of twitching while she sleeps (eyes included).
Emma just had her 3rd EEG (her first was around 7 or so mos), & this was the first one that captured anything abnormal (other than a slower brain wave pattern, which we’ve seen on all 3). In combination with Emma’s other neurological issues, her neuro tends to be very cautious about symptoms (as being seizures) because she is at greater risk for developing seizures.
I imagine it is hard to decifer between Sandifer’s & seizures. They can both appear so similar. Again, it is great that your doc is being proactive about this. Chances are, the symptoms are related to Sandifer’s. I’ll be thinking about you guys!!
FYI for the EEG…Emma was around 8 months or so for her first EEG. It was actually our easiest! I’m not sure what age your older child had the EEG, but I know as Emma gets older, they get a little more difficult. So, hopefully it will be a breeze (well, as much as a medical procedure can be!) for y’all! If the episodes for Hailey continue, I would think about seeing a neurologist & getting his/her perspective.
Last thought: I have found that doctors deal with science (even the best bed-side mannered ones!). They are not treating their own children. So, they will simply speak in black & white terms when referring to your child & a possible medical condition. They can scare the you know what out of you!! We’ve heard from doctors that Emma’s condition could be progressive, we’ve heard she may have had a minor stroke, the list goes on. It is very difficult to be a parent & try to ‘stay cool’ hearing all of that. Dh & I now take a day to be upset (our own private pity party!) & then look at our Emma and see how she seems to love proving the experts wrong. Every child is different, & regardless of the diagnosis, they will amaze you. The benefit of a diagnosis, especially an early one, is for treatment & hopefully to avoid complications.
Take care! (((HUGS)))Now…another, another update on Emma…LOL!
First, she is doing really good on the seizure med. She is sleeping better at night, taking a nap even. She is not zoning out as much & all in all, doing really good!
We gained some new insight into things yesterday with her neurologist & speech therapist. The neurologist told us that her lack of hunger/thirst is a neurological disorder (another part of Emma’s encephalopathy). So, we are not to do any aggressive feeding therapy. He said to continue what we are doing, offer foods, etc. but be gentle. Anything else will be harmful to her. That is good to know. As much as it stinks, not being able to do much to help this, it also takes some stress off as far as eating goes. And, she has the gtube, so she’s getting all she needs. And, BOY, is she!! I need to post a new picture of my BIG Emma! She is getting heavy & chubby–it is GREAT!!
Emma also has “Developmental Apraxia of Speech” which is why she is inconsistent with her speech. We’ll hear a word once & then never again. She does great with signs & gestures, but being verbal is a big challenge. Some days, she is totally silent. So, at least we know what is going on, her brain is having trouble with the motor-planning of speech. We can now do the right therapy to help her (flash card drills for one).
I also asked the question I’ve really needed/wanted to, but was always afraid of. I feared it would come out sounding like “When will Emma be like everyone else?” That’s never what I’d ask…as Josh & I try to plan our future & we look down the road, it’s hard not really knowing what’s in store for our Emma. So, I asked: What is Emma’s prognosis, as far as her development goes? He said at this point, it is really too early. He is very pleased with how far she’s come. He said when we first brought Emma to him, she did not have the appropriate reflexes, her eyes were not tracking, things looked very bleak. They thought at that point she had a progressive brain disorder, that meant she would not develop further & most likely not live long. I never really knew it was that bad…or, I didn’t want to know it was that bad. So, he said the fact that she is doing so well, is great (a miracle to me!). He said, based on all her tests, etc. that she will always be delayed. We won’t know until 5 or 6 what we can expect for down the road.
She amazes me everyday. I can’t believe she’ll be 2 in a month. What a long, strange trip it’s been…lol…in her two short years, she has taught me SO much. I have learned patience (REAL patience), I have learned what having faith really is, I have learned to take life slower, make better memories, I have learned that hugs & kisses are way more important than getting all your chores done! I have never had my heart ache so much than mine has for Emma while on this journey, yet at the same time, Emma makes me smile down to my soul each & every day. Some days I will look at her, & I’m overcome with so much joy, it’s hard to not cry. She is a gift. I don’t ask “why me??” I say THANK YOU because I am such a better person today than I was 2 years ago. I look at the world & the people in it so differently. I’ve also learned that no matter what the doctors might think or the experts might say, anything is possible. It’s a GOOD thing Emma doesn’t have very good listening skills (lol!), or she might have given up at some point!
Okay, I’m rambling on & on…. I’m so excited about this–for her birthday, we are having our family & friends give us money in lieu of gifts. We are purchasing at least 1 wagon & some DVD’s to Emma’s hospital. Emma has plenty of toys (most that she barely touches!) & we will get her gifts, of course! Thanks to Josh’s new job, we are no longer living week to week (did I mention we are BLESSED?), AND, as of now, Emma’s Neocate is being supplied by her home healthcare company (WOO HOO!), so we are in a position to give. As the saying goes…”If you can’t pay it back, pay it forward…”
(((HUGS))) all around!!!
Lauren,
Thank you!!! I don’t know what to thank you for exactly, lol, but I guess I want you to know that I truly appreciate your candor and you write beautifully
…I love reading your posts, as i am sure they help (have helped and will continue to help!) others…
~laura
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