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Welcome to Inspire!

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MMA skin biopsy

malachismom
  • By malachismom · Posted September 11, 2009
  • Discussion in Pre-natal and newborn screening and diagnosis · 1 reply
  • My son was flagged at his newborn screening for high MMA levels. He also has low B12 which corrected after starting injections, so it appears he may have B12 responsive MMA. We just did a skin biopsy ...

Where Does Time Go?

psjaquith
  • By psjaquith · Posted August 31, 2009
  • Journal · 2 replies
  • I didn't know how long it had been since I've been on here. I don't know how time gets away the way it does when it is such a precious commodity. I suppose part of it is just the busy part of life. I ...

The first and only known patient alive who suffers from congenital glutamin

ammarajool
  • By ammarajool · Posted August 12, 2009
  • Journal · 0 replies
  • The first and only known patient alive who suffers from congenital glutamine synthetase (GS) deficiency: a journey for finding a diagnosis. This patient is of low glutamine and elevated ammonia as in ...

measure the enzyme (glutamine synthetase) in the blood of your children

ammarajool
  • By ammarajool · Posted August 12, 2009
  • Discussion in Symptoms and treatment · 0 replies
  • Hallow My son is the only one alive patient who is diagnosed with (glutamine synthetase deficiency) . but he shared, with the propionic acidemia and methylmalonic academia , the biochemical abnormalities ...

Scheduled maintenance this evening

TeamInspire
  • By TeamInspire · Posted August 10, 2009
  • Journal · 13 replies
  • All, Inspire will be performing database updates this evening starting at 8:00 Eastern. We expect the updates to take no more than 2 hours and the site will be unavailable at this time. We thank you for ...

no place like home

Jesana
  • By Jesana · Posted August 9, 2009
  • Journal · 5 replies
  • so I went on Monday and had the baclofen pump replaced. they had a difficult time placeing the iv at least they put numbing medicine . finally the surgeon came he was able to put one in my foot. I liked ...

Here I Go Again!

psjaquith
  • By psjaquith · Posted July 25, 2009
  • Journal · 1 reply
  • I get a needle biopsy in right side thyroid (isthmus and left side already removed) in the two tumors there. The small and large look like they are trying to merge. I would so much rather it removed anyways ...

New to this!

kate63
  • By kate63 · Posted July 11, 2009
  • Journal · 4 replies
  • What a great idea this is. I hope to find answers regarding insurance and doctors, and also for pain management; and in return to provide inspiration with my own experiences. The best medicine, in my ...

newborn just diagnosed with mut 0

gus2009
  • By gus2009 · Posted June 20, 2009
  • Discussion in Raising a child with an organic acid disorder · 3 replies
  • Hello, I am new to this. My 3 month old daughter was diagnosed with MMA a 5 days old and we finaly recieved the results of her skin biopsy and she is mut 0. I am having a hard time finding encouraging ...

Share your story via video!

TeamInspire
  • By TeamInspire · Posted June 15, 2009
  • Journal · 28 replies
  • Sometimes the most powerful message each of us can share is our personal story -- our own experience. With upcoming healthcare legislation pending, one way we can be advocates is to share these stories ...

Follow Inspire on Twitter and Facebook!

TeamInspire
  • By TeamInspire · Posted June 10, 2009
  • Journal · 32 replies
  • We're happy to announce that you can now stay in touch with what's happening at Inspire by following us on both Twitter and Facebook. While Inspire communities are still the best places to connect with ...

Guestbooks are now live!

TeamInspire
  • By TeamInspire · Posted May 26, 2009
  • Journal · 6 replies
  • Hello everyone, Last week we mentioned that we'd be adding guestbooks to Inspire in the near future, and they are now live! We're very excited about this feature and hope you enjoy it. To check out your ...

Guestbooks - An exciting addition to Inspire

TeamInspire
  • By TeamInspire · Posted May 20, 2009
  • Journal · 35 replies
  • Hello everyone, We're writing to let you know about a great new feature we'll be adding to Inspire in the very near future: guestbooks. This is a feature that many of you have requested, and we're very ...

Moms, you rock!

TeamInspire
  • By TeamInspire · Posted May 1, 2009
  • Journal · 0 replies
  • Looking for a unique and extraordinary way to say "thank you" to your mom? In honor of Mother's Day, good friend of Inspire Dr. Gwenn (of http://www.PediatricsNow.com and http://www.DrGwennIsIn.com) will ...

blind from not processing it correctly in the brain?

keerasmom
  • By keerasmom · Posted March 20, 2009
  • Discussion in Raising a child with an organic acid disorder · 2 replies
  • Keera hasn't ever stopped moving her eyes or acted like she could see since she was born, they used to go side to side quickly and then plung deeply down to where you could just barely see any of her ...

Keep on Moving

psjaquith
  • By psjaquith · Posted March 5, 2009
  • Journal · 0 replies
  • On Tuesday, I had an orthoscope on both shoulders, on Weds. we were in ER with my daughter Sherry (d-2-hydroxyglutaric aciduria w/mixed disabilities), today I am working on getting those arms and shoulders ...

Bone Marrow Transplant for Organic Acidemia?

Kristinna
  • By Kristinna · Posted February 3, 2009
  • Discussion in News and research · 3 replies
  • Has anyone had any experiece with this? My infant has Beta-KetoThiolase Disorder and I asked her Doc about this and he said it may be an option. I am looking to see if anyone out there has ever done this ...

I Suppose I should start

psjaquith
  • By psjaquith · Posted January 12, 2009
  • Journal · 0 replies
  • My last post read more like a journal entry. My frustration with physical limitations, my frustration with lack of understanding, some bouts of depression some neuro related from brain injury. I feel ...

Oral Fixation

boulder50
  • By boulder50 · Posted December 17, 2008
  • Discussion in Raising a child with an organic acid disorder · 1 reply
  • Is the oral fixation my grandson has: 1. always having something in the mouth 2. tasting the floor,walls, toys, everything in sight more with him because of the acidemia or is it just the normal growing ...

Cambrooke Foods - Product Recall Notice!

oaanews
  • By oaanews · Posted December 15, 2008
  • Discussion in Nutrition and recipes · 0 replies
  • Product Recall Information URGENT: FOOD RECALL NOTICE Dear Valued Cambrooke Customer, Cambrooke Foods® is announcing a voluntary recall on its Imitation Cream Cheese and a market withdrawal of its Peanot ...

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