What the previous post means…

I sent Dr. S. an email asking him what all that meant that I posted earlier this evening, and here was his response:

Dr. Futerman’s lab is doing the best scientific work on neuronopathic Gaucher disease and as you know much of it is supported by CGRF. What they say in this website is that they are working on the specific mechanism by which the accumulated glycolipid (fatty molecule) that in Gaucher disease causes problems in the brain. This work in critical in any case but may also lead to novel treatment approaches.

See THAT makes sense!   Thank you Dr. S.!  (We just love this man!)

Specific Gaucher’s Disease Type 2 and Type 3 Research

Disclaimer!  I have absolutely NO CLUE what this means, but this is the group that the Children’s Gaucher’s Research Fund is directly funding to work on GD2/3.   I will find out what this means and how it may affect Hannah!

Pathophysiology of sphingolipid storage diseases
We are attempting to delineate the molecular mechanisms by which sphingolipid accumulation in lysosomal storage diseases causes cell dysfunction, specifically in neuronal cells. We have shown that neuronal Ca²⁺-homeostasis is altered in models of Gaucher, Tay-Sachs (Sandhoff) and Niemann-Pick diseases, and we are currently attempting to determine the precise biochemical mechanisms by which sphingolipids alter Ca²⁺-homeostasis.  

Cultured hippocampal neurons that have accumulated GlcCer (right), using a chemical inhibitor of glucocerebrosidase, release more calcium from internal stores than their control counterparts (left).

Genzyme Oral Pill for Gaucher’s Succeeds in Trial

Genzyme Oral Pill for Gaucher’s Succeeds in Trial, Aims to Extend Key Revenue Stream

Genzyme (NASDAQ:GENZ) said this afternoon that its next-generation, oral drug for Gaucher disease passed a mid-stage clinical trial, providing a degree of assurance that the Cambridge, MA-based biotech powerhouse can sustain its franchise for treating the rare genetic disease.

The study, which included 26 patients, showed the oral drug was safe and effective. And the trial showed that the drug met its main goal in 91 percent of patients who took the drug over a year’s time. The results were presented today at the Lysosomal Disease Network World meeting in San Diego.

The trial represents an important test for the drug, although it will still have to clear another late-stage clinical trial expected to begin in mid-2009 before it can win FDA approval for sale in the U.S. This drug is strategically important to Genzyme. Imiglucerase (Cerezyme), the company’s current treatment for Gaucher, is its top-selling product that raked in $1.24 billion in 2008 sales, or more than a quarter of the firm’s total revenue of $4.6 billion. But two critical patents for the treatment expire in August 2010 and August 2013, according to regulatory filings.

“Given Cerezyme’s unique safety and efficacy profile, we set a high threshold for success, and the results were better than anticipated, indicating a potent, highly-specific and well-tolerated molecule,” said Geoff McDonough, a senior vice president with Genzyme, in a statement.

The oral Gaucher drug, tentatively called Genz-112638, would come with a longer patent life, and is also intended to be a more convenient option for people with Gaucher. About 10,000 patients worldwide have the disorder, and the current imiglucerase treatment is only available through intravenous injection.

The study of Genzymes’s oral Gaucher drug showed that the treatment decreased spleen and liver growth that is common among patients with the disease. The drug also proved effective in raising levels of hemoglobin, a protein that carries oxygen in the blood, and platelet cells, which help form clots, according to Genzyme. The study also showed lower levels of an antibody released in fatty tissues in patients who took the drug.

The company says that the there was a small number of patients who had mild adverse reactions to the drug early in the trial, but those adverse events did not require medical treatment. Of the 26 patients who enrolled in the trial, 22 completed the full year of treatment, and 20 chose to stick with the drug after the study ended, Genzyme says.

Becoming a Paranoid Parent

I never really considered myself a paranoid parent or even an overprotective parent before. 

But last night I realized that I have become totally paranoid when it comes to Hannah, especially when she is sleeping.  She is a noisy sleeper.  You can hear her breathing loudly at times, as she sometimes even wakes herself up from sleep.  She sleeps with her eyes open a little bit (like in this picture), which honestly, is a bit freaky (like she is doing now!). 

She woke up at 3:30 AM this morning with a little cough, just a little too much saliva or something in her throat.  It only lasted a couple of seconds.  But it freaked me out a bit, as swallowing difficulties is one of the big symptoms to look out for with her. 

She’s still sleeping in the pack’n'play in our bedroom.  I wake up a few times a night for whatever reason just to make sure I still hear her breathing.  As much as I know we need to move her to her crib, I’m just so paranoid that something might happen.  What is ridiculous is that her room is literally right next door to ours, and we do have the monitors. 

So why am I so afraid to let her go?  I got to get over this.

Evenflo, ExerSaucer® Triple Fun Recall

Yep, just got an email that Hannah’s FAVORITE activity, has just been recalled. 

They talk about the end caps falling off, but she uses it as a circle with the seat.  I’ll have to add calling Evenflo on my list of things to do today!

Daddy is going to blog!!

Yep, my husband is starting to get the blogging itch and feels that he wants to share his thoughts on things in our life on his own platform.  I’ll let you know when he starts posting! 

Can anyone think of a creative title for a dad posting a blog?  (He’s at a loss!)

Would you consider…

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