Wednesday, February 19, 2014

We're # 2

 The medicine our boys receive weekly tops the charts as the #2 most expensive drug in America at about +/-$4,000 USD per vial.  We're actually lucky to make a list, and thankful to have a drug.


It is worth every penny

I take this very seriously and to heart because there are many MPS diseases that don't have a treatment. Like our disease, these parents watch their kids regress and many die.  At least we have a chance at disrupting the course of the disease.  I also know that many, many MPS II children died waiting for a drug to be developed.   It may cost a lot but the cost of a vial cannot be compared to the cost of the sacrifices made to bring something this life changing to fruition.

It also costs Pharma a lot to bring a drug to market, and rare diseases have small addressable markets. Many times the production process is very costly as well, which is the case with our drug, in which a purified human enzyme needs to be manufactured.  Sure, do they reap profit? Yes, they do.  They also provide patient programs, case managers, etc.  Without this medicine, I couldn't imagine how much more compounded our patient costs would be for more surgeries, more admissions, more procedures, more specialist visits, more medicines, etc.  I believe it would cost a great deal more than these vials.  

Every Sunday our sons receive Enzyme Replacement Therapy (ERT).  Our counter looks like this every week as we have two patients, double the medicine and double the supplies.

Elaprase attempts to provide the enzyme they are missing.  This medicine is effective but it's not as effective as if their bodies produced this enzyme naturally.  One major gap is that the ERT cannot effect the brain as it cannot pass through the blood brain barrier.  My basic understanding is that there is a protein in the medicine that is too large to pass through the blood brain barrier.

This drug was first approved for use in July of 2006 after clinical trials and clearing FDA approval.  Alex was diagnosed with MPS II in October of 2010.  Elaprase's purpose is to replace the enzyme that's missing from our sons bodies.  The enzyme isn't produced because they have a gene mutation that is carried on the x-chromosome.  This is why most patients are boys rather than girls, and frankly why I am alive at 40, because boys only have one x and girls have two.  If you receive the broken x then unfortunately your body produces little to no enzyme necessary to carry waste cells from your body.  If you receive the good x, like Jack did, or are a girl with a backup x you have no issues.  These waste cells impact your joints, your brain, your stature, your ability to breath, your life span, etc.  A medicine that can take over and do some or most of the job nature can't is a game changer.  The biggest benefit is that this medicine slows the effects and the progression of the disease.

Some of the negatives other than not being able to pass the blood brain barrier are, it cannot effect bone,  joints, and spinal issues.  It's also not a cure but a treatment.  It's administered weekly by IV through a medi-port in a hospital setting or by home health, and it's not a simple, easy administration such as just taking a pill.  Think of those blood draws you take your kids to or those shots they get that upset them, my kids get stuck with a needle in their chests every week.  Every patient starts with administration in a hospital setting and works up his way to having these treatments done at home. This drug has been administered at home now for about 2+ years with much success.  Gone, for good I hope, are the days of screaming grab him, the boy with the IV pole is making a break for it down the hospital hallway!!  Did I mention Alex started his treatments during the last trimester of my pregnancy?  Both Alex and Nick have implanted medi-ports that are accessed each week, and they receive a 2.5 hour infusion.  They wear backpacks with a pump and a medicine bag that administers the medicine at defined rates.  They never do headstands on their chairs while watching Barney with their backpacks on.  No NEVER, they'd never do that!  The nurses we've met along the way have some of the best stories and a special one or two really become part of our family.

Our boys have responded really well to this medicine. Their lungs, hearts, abdomens, and tendons have all improved.  Have a look at this picture of Alex.  He is adorable but looks bloated. I am carrying Nicholas the next MPS patient, we just didn't know it yet!  He had a 50% chance.


Here's Alex over a year later having lost some "baby fat", still looking cute, but having purged some of those waste cells out of his system.  We've seen many improvements in Alex's health due to this medicine.

Nicholas starting receiving this medicine at 3 months old.  He didn't have a port at that time.  So the poor Vein Access Team had to come in and access him every time.  This medicine has completely disrupted the course of the disease.  He talks in complete, fluid sentences.  Is excelling at pre-school.  Nicholas is happy, and engaging.  It's a wonderful joy to talk to him!

We're so thankful for this treatment!  It gives our sons a chance.  It's still not an easy road but a better one with this treatment.  We look forward to the intrathecal trial to effect their brains, spines and vital organs to give them a shot at living.  In our house, we call this medicine, Ela-PRAISE!

The Cherrstroms

Wednesday, February 5, 2014

Top 10 Interesting Situations, Advice & Funny Comments said to us as Parents Managing Hunter Syndrome

During our journey with diagnosis of MPS II, Hunter Syndrome, and dealing with the daily demands of this disease, we interact with a lot of doctors, therapists, nurses, billing departments, etc.  We've had some really interesting conversations!!

Here are our favorite Top 10 best, interesting and funniest situations and statements made to us of all time.

Coming in at Number 10...

10.) "Don't worry.  Just because we're looking at an MRI image (brain image) with enlarged perivascular spaces, doesn't mean your child has to go to state school.  I know someone who went to Harvard who has enlarged perivascular spaces, and he's really smart."  (whew, that relieves all of our worry, thanks!!  Note to self to contribute to our college savings fund.)

9.) "We're not calling your kids ugly or anything.  They just have coarse facial features, and a bossy (bossed) forehead.  You'll need to get used to us saying that..."  (um, OK.  Our children's facial features are mildly impacted by Hunter Syndrome but there are features that make Hunter Syndrome identifiable such as a broad nose, shorten neck, thickened tongue and lips, etc. Now we just ignore this when anyone says this to us.)

8.) "Are you available for hire?  We have residents here who can't fill a form out like, you're amazing."  (Learning medical terminology is part of our job as parents!)

7.) "I wasn't sure if I should tell you this or not, but you probably won't be able to potty train your son.  I wanted to see how you would do it...let's just give it a go and see what happens."

6.) "You will need to go ahead and pay this bill.  It's $120,000.  Would you like to pay with cash or with a credit card?"

5.) "Do not Google this, and here's my home number and cell phone number if you have questions."  (We Google'd Hunter Syndrome in the elevator.)

4.) "I know what Autism Speaks is because of Jenny McCarthy."  Response - "ugh that's nice but she should stick to MTV"

3.) Dr. finishes exam, says nothing, leaves the room.  We sit, waiting, waiting, crickets are chirping, more chirping.  Is it over?  Hello, is anyone out there?  Has the exam ended?  Has the staff gone home?  HELLO...

2.) "It's clear that you are well aware that nerds will run the world, and you know that if your kids are not nerds they will work for nerds.  Nerds who wear Merrells none the less.  Let's geek out together, I can tell you like to geek out.  You are my BFF."

1.) "You're his Mother!!  You have to have hope!!"  (Love, love, love this one!!!)

Whether you're a new parent or battling a rare disease, I am sure you can all relate to getting lots advice about your children.  We've had the greatest support from many professionals but we do like to look back and laugh at some things along the way.

The Cherrstroms