What is Enzyme Replacement Therapy?

Enzyme replacement therapy (ERT) is a therapeutic approach in which the specific enzyme that is inactive or absent in affected individuals is replaced with functional enzyme molecule isolated or produced in the lab. ERT has been successful for the treatment of Gaucher Type 1, Fabry, MPS I and, most recently, has received approval for Pompe disease. ERT is effective in the non-neurological symptoms of Mucopolysaccharidosis Types I, II IV and VI, Pompe and Niemann-Pick B, but has not yet proven to be beneficial in storage diseases that primarily affect the central nervous system since the replacement enzymes do not efficiently cross the blood-brain barrier. To learn more on how enzyme replacement therapy works in Gaucher disease visit http://www.cerezyme.com/patient/treatment/cz_pt_treatment.asp 

from www.ntsad.org

Extraordinary Measures - Official® Trailer [HD]  

Mom's Review of Extraordinary Measures 

Sunday, January 24, 2010 9:45 PM, EST

Taken from Rachaeli's online journal.

Hi.  My mom and Abba saw Extraordinary Measures last night and wanted me to tell you about it.  Those of you in the NTSAD (National Tay-Sachs and Allied Diseases) Family know John Crowley and his amazing family.  He was the president of NTSAD when I was diagnosed with Tay-Sachs disease.  For those of you NOT in the immediate NTSAD family, Extraordinary Measures is a TRUE story about the Crowley family and how John saved the lives of his two children with Pompe disease. It was because of his and his wife's efforts that an Enzyme Replacement Therapy was created in a miraculously short amount of time, in enough time to save his two children's lives (YES, they are alive today!).  He encountered and overcame all of the financial and scientific obstacles that would have deterred even the most experienced in the pharmaceutical field.  Saying it is an amazing story is an understatement.

My mom has been overwhelmed by numerous stray thoughts and impressions since watching the movie last night, so her comments may seem quite random.

First, she wanted to give a thumbs up for the movie in general.  Making a movie like this, to be sold to the general population, is not an easy task (not that she has any experience). She imagines that if it were not done with a star studded cast, it could easily become another documentary.  The term, Lysosomal Storage Diseases, was only mentioned once, and they kept the focus on Pompe disease only.  Mom says this probably helped by keeping it simple and understandable. 

It was a heart-wrenching movie.  With the exception of Saving Private Ryan, my mom has never cried in the first 5 minutes of any movie.

Mommy thought that Keri Russell played a realistic mom in this situation. She looked like my mom under stress:  malnourished, premature wrinkling, bags under the eyes, stressed out... 



Brendan Frasier did a fine job.   My parents have not seen many of his goofy movies, so they still call him "David Greene", the character he played in the movie, School Ties, back in the early 90's.  In that movie he played a Jewish football player from Scranton who was recruited into a Christian prep school in New England in the 1950's; it was about the anti-semitism he encountered and how he handled it.  Many budding stars were in that movie.  Anyway, my parents have a soft spot in their hearts for David Greene, or Brendan Frasier, because of the hardships he encountered back in his pretend high school.

Okay.  Enough of that.  The role of John Crowley depicted the role many fathers in this situation are forced into.  They tend to be the parent who stays in the work force - because they have to.  They have less time to openly deal with the stress they are under.  They become depressed and their job performance suffers.  Many dads in real life lose their jobs for one reason or another.  In the movie, the dad has only one bout of 'psychosis' when leaves work in the middle of  giving an important presentation so he can track down the researcher critical to curing this disease.  His job is jeopardized, and he eventually leaves it to work on this other huge endeavor.

But most dads are not like John Crowley. In real life and in the movie, John is a spectacular human being with many talents and the drive to conquer anything, which he does.  One cannot help but be in complete awe of him, his wife, and his kids.  My mom does not know him personally, though she has met him at the NTSAD conferences.

Anyway, if you want to experience a little of what it is like to have a 'normal' life while raising a dying child, this movie will give you a glimpse.  You see the nurses come and go, the hospital beds, the pumps, tubes, suction machine and monitors.  They don't show the actual nursing care of the children (bathing, hoisting them into and out of bed, tube feedings) but that is fine.  It would be a distraction perhaps.

What was completely unrealistic, in my mom's opinion, was the immaculately clean house.  They could have at least shown a few misplaced pillows or something.  Mom was also surprised that, in the movie, their 6am nurse had a key to the house...mom said she won't go into the details.

My mom thought the role played by the healthy brother was also sweet and realistic.  He had normal sibling quarrels with his precocious sister, but he was caring, loving, and understanding of his parents' roles. 

 

The movie also highlighted many of the comments made by medical professionals that most parents endure.  "Perhaps if she goes in her sleep tonight, it will be a blessing," or, "Just go home and spend time with your child while she is still here."  In the movie, the father had to endure other comments made in the business world, like, "How many deaths will be acceptable so we can still have a profitable rate of return'?" or something like that.

Also important was the reality of scientific researchers.  Their job is not glamorous and they are not well paid, but they are passionate about what they do and they take great pride in their discoveries.  How amazing would it be to be the one who discovered a cure to a fatal illness? On the flip side was the reality of pharmaceutical company researchers.  They, too, are passionate about their work, but they have the pressure from above of turning a profit, which sometimes means hiding their work from others in order to win and make the big bucks.  Also important to notice is the distance most researchers have from any aspects of clinical medicine. 

My mom says that one of the most important aspects of the annual NTSAD conferences, in her opinion,  is having the researchers present at the meeting, and having them meet the affected kids and families, and vice versa.

My mom had two nagging thoughts/feelings during the movie, and they persisted throughout the day today.  The first was an immense pride.  Even though she's never done anything herself, and even though she doesn't know the Crowley's personally, she just has an overwhelming sense of pride simply by having an association, albeit distant, with this incredible family and all that they have accomplished.  She has also had a renewed feeling of pride about me...having me, knowing me.  She said she wished I were with her at the movie so she could just parade me around and smile. 

The second intrusive thought she has had for over 24 hours now is, "Boy, I suck."  The words in the thought have varied but the message is the same:  "Not only do you suck because you haven't done anything like this for your daughter, but you suck because you couldn't if you wanted to."  "All you think about is how you're going to pay for college, when you should be thinking about finding a way to get this gene therapy moving faster.  You really do suck.  Where are your priorities?" 

Even when she tries to talk herself out of it by telling herself, "Okay.  This is not my station in life.  We can't all be John Crowleys or Ken Bihns.  G-d did not make me smart enough or resourceful enough to take on such grand endeavors.  My job on this earth is something completely different,"  the thought still persists - "You can't even identify what your dumb job is.   Yes, you definitely suck."

Mom says she hopes she hasn't offended anybody.   She could have replaced 'suck' with 'stink', but it wasn't the word used by her persistent, nagging thoughts, and it just wouldn't have the same effect.

During the movie, my mom also felt like she was watching the Bihn family in real time [She hopes she's not embarrassing you, Ken and Julie].  As most of you know, the Bihn's created the Cure Tay-Sachs Foundation and are responsible not only for raising over a million dollars for scientific research, but for the $3.5 million dollar NIH grant that was awarded as a result of the research they helped sponsor.  I imagine that the energy and spirit in that household is comparable to that in the Crowley's home.  Mom gets chills just thinking about it.



Mommy has also been thinking about a book she started reading a while ago called, The Tipping Point.  She didn't finish it because her attention span doesn't hold up so well when reading non-fiction.  As she remembers it, the Tipping Point describes all the factors that come into play at just the right moment to cause a tremendous change, whether it be the apparent resurgence in Hush Puppy popularity in the mid-90's (she said she missed that one), or the turnover of a decrepit neighborhood into a booming one. 

She thinks about the Cure Tay-Sachs Foundation when she thinks about the Tipping Point - the research was in the right place with respect to gene therapy and chaperone therapy, kids were living longer, stem cell transplants were working if you could survive the immunosuppression, and the Bihns arrived at the scene with their entourage of supportive friends and family.  And now we're going to have a cure for Tay-Sachs - SOON! 

As Mom has just learned, the Tipping Point for Pompe disease happened the same way not so long ago.  But for all the forces coming together at the same time, with the Crowleys turning on the heat and setting the timer, the cure may have taken years longer.  The Crowleys were the weight that tipped that scale.

That's all mom has to say for now.

Let's all pray that the Extraordinary Measures that have gone into the Cure Tay-Sachs foundation will produce a cure - and fast.

Love,
Rachaeli

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