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Who am I? Well, first of all, this website and effort is only here because of the joy that Case has brought to our lives and the urgent need for...
Speaking

Who am I? Well, first of all, this website and effort is only here because of the joy that Case has brought to our lives and the urgent need for…

Witness first hand how geographically diverse our MPS community is! Within the last year, there were visitors to this site from every U.S. state and territory and from over 100...
Visitors

Witness first hand how geographically diverse our MPS community is! Within the last year, there were visitors to this site from every U.S. state and territory and from over 100…

Everyone has a story, that’s one of the things that MPS has taught us. There is also a story behind this blog. SavingCase – the idea Of course, we are...
Backstory

Everyone has a story, that’s one of the things that MPS has taught us. There is also a story behind this blog. SavingCase – the idea Of course, we are…

We tweet about rare disease (generally and MPS in particular), updates on medical research, new blog posts, special education, therapy issues, and other issues relevant to families affected by rare...
Tweets

We tweet about rare disease (generally and MPS in particular), updates on medical research, new blog posts, special education, therapy issues, and other issues relevant to families affected by rare…

T-shirts We have SavingCase T-shirts that we designed in 2010 as both a fundraiser and an awareness campaign. Funds go to pay hospital bills, purchase therapy items, and pay for...
Gear

T-shirts We have SavingCase T-shirts that we designed in 2010 as both a fundraiser and an awareness campaign. Funds go to pay hospital bills, purchase therapy items, and pay for…

There are many ways to help Case and other children suffering from MPS/ML. First, we would ask for your consistent prayers for their health and healing, and that families would...
Help

There are many ways to help Case and other children suffering from MPS/ML. First, we would ask for your consistent prayers for their health and healing, and that families would…

Important websites to the MPS II Community: National MPS Society – This is the main MPS organization for the United States and it does an incredible job of supporting families...
Sites

Important websites to the MPS II Community: National MPS Society – This is the main MPS organization for the United States and it does an incredible job of supporting families…

Contact
Original Work: Go Ahead and Stare, Positive Exposure (Spring 2013) Virtual zeal: rare disease caregivers carry a powerful voice in social media, PharmaPhorum.com (3/8/2013) How much is that cure in...
Media

Original Work: Go Ahead and Stare, Positive Exposure (Spring 2013) Virtual zeal: rare disease caregivers carry a powerful voice in social media, PharmaPhorum.com (3/8/2013) How much is that cure in…

Hunter Syndrome (or Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births, although it is estimated that the grouping of MPS conditions collectively...
Hunter Syndrome

Hunter Syndrome (or Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births, although it is estimated that the grouping of MPS conditions collectively…

Featured Stories
  • Case hit another milestone by claiming Jeeps0June 13, 2013

    Intrathecal Trial Update – “Jeep for me!”

    Case hit another milestone by claiming Jeeps

    Pin It
  • I’ve mentioned before the amazing work of Rick Guidotti and the Positive Exposure team. He was responsible for the Hunter in Focus exhibit that has now been shown in several...0June 10, 2013

    Rare Disease, Rick Guidotti, and Redefining Beauty

    I’ve mentioned before the amazing work of Rick Guidotti and the Positive Exposure team. He was responsible for the Hunter in Focus exhibit that has now been shown in several…

  • Happy MPS Awareness Day! Many rare diseases affect the heart – that muscle that powers our movement, our strength, our … love? In MPS, I have my priority list of...0May 15, 2013

    Celebrating Case’s Heart on MPS Awareness Day

    Happy MPS Awareness Day! Many rare diseases affect the heart – that muscle that powers our movement, our strength, our … love? In MPS, I have my priority list of…

  • My friends Jill Wood (an MPS IIIC mom), the Leider family (with two MPS II boys) and I were incredibly blessed to be involved in a project by Lisa Jarvis,...0May 13, 2013

    Media: Mucopolysaccharidosis and Other Rare Disease in the News

    My friends Jill Wood (an MPS IIIC mom), the Leider family (with two MPS II boys) and I were incredibly blessed to be involved in a project by Lisa Jarvis,…

  • In so many ways, our lives as parents revolves around the constant needs of a medically involved, special needs child. But what about their unaffected siblings? How do we protect...0May 6, 2013

    Silent Siblings: MPS and special needs can take their toll

    In so many ways, our lives as parents revolves around the constant needs of a medically involved, special needs child. But what about their unaffected siblings? How do we protect…

  • If you speak to most parents or siblings of a disabled child or adult, they will share how much they learned from them. Even friends or teachers or the checkout...0April 30, 2013

    Is a disability-free world a *perfect* world?

    If you speak to most parents or siblings of a disabled child or adult, they will share how much they learned from them. Even friends or teachers or the checkout…

  • I remember the PICU. A life of watching oxygen saturation, heart rate, pulse. Case was 2 1/2 or so when he spent 4 days in the PICU. Not a lot...1April 26, 2013

    PICU, pulses, and oxygen

    I remember the PICU. A life of watching oxygen saturation, heart rate, pulse. Case was 2 1/2 or so when he spent 4 days in the PICU. Not a lot…

  • For my friends who are currently worn. Whether it’s MPS or something else, maybe you’ve just lost your child, or he’s in the hospital, newly diagnosed, or losing the skills...0April 9, 2013

    The Struggle

    For my friends who are currently worn. Whether it’s MPS or something else, maybe you’ve just lost your child, or he’s in the hospital, newly diagnosed, or losing the skills…

  • Rare diseases may seem like solely a health care issue, but in fact, a newly released report finds that their impact is much more systemic, affecting the health care system...0April 9, 2013

    The Systemic Impact of Rare Disease: Medical, Emotional, Financial, Social

    Rare diseases may seem like solely a health care issue, but in fact, a newly released report finds that their impact is much more systemic, affecting the health care system…

  • Today is Case’s diagnosiversary. April 6. Four years ago today. It wasn’t the day that some doctor came in and told me Case had Hunter Syndrome. But it was the...0April 6, 2013

    The Difference 4 Years Can Make

    Today is Case’s diagnosiversary. April 6. Four years ago today. It wasn’t the day that some doctor came in and told me Case had Hunter Syndrome. But it was the…

  • Most little boys want to be a cowboy. Woody, from Disney’s Toy Story, is the ultimate hero. And so now it is with Case. In this way, as in so...1April 1, 2013

    A Boy and His Boots

    Most little boys want to be a cowboy. Woody, from Disney’s Toy Story, is the ultimate hero. And so now it is with Case. In this way, as in so…

  • For children with special needs, especially Mucopolysaccharidosis, oral and dental health can be one of the biggest challenges. Using Hunter Syndrome as an example, children not only have innate deficiencies...1March 28, 2013

    Therapy Thursday: 4 Tips for Oral Health with Children with Special Needs

    For children with special needs, especially Mucopolysaccharidosis, oral and dental health can be one of the biggest challenges. Using Hunter Syndrome as an example, children not only have innate deficiencies…

  • For those of us intimately involved in the future of Shire and its division Shire HGT, either because we or our kids already use a Shire product (us), because we’re...1March 23, 2013

    Shire HGT’s #RareDisease Developments

    For those of us intimately involved in the future of Shire and its division Shire HGT, either because we or our kids already use a Shire product (us), because we’re…

  • Today is Case’s 6th birthday and I could not let the day pass without acknowledging what a blessing he is in our life. I also want to note that not...1March 12, 2013

    Birthdays, Blessings, & Burdens

    Today is Case’s 6th birthday and I could not let the day pass without acknowledging what a blessing he is in our life. I also want to note that not…

  • What is the difference between parents and big pharma? Is it money? Bureaucracy? Cold heartedness? No. Well, okay, maybe money, and some bureaucracy to be sure. But a cold heart...0March 8, 2013

    The Difference: Parents vs. Big Pharma

    What is the difference between parents and big pharma? Is it money? Bureaucracy? Cold heartedness? No. Well, okay, maybe money, and some bureaucracy to be sure. But a cold heart…

  • Many fonts have been spilled in recent months about the popularity of orphan drugs for big and small pharma and biotechs. The titles of articles alone are enough to give...4February 22, 2013

    When Rare Just Isn’t Enough: The Case of Elmiron

    Many fonts have been spilled in recent months about the popularity of orphan drugs for big and small pharma and biotechs. The titles of articles alone are enough to give…

  • It is quite strange to see the last few years of your life boiled down to a few paragraphs of text and a line on a chart. It is even...0February 18, 2013

    Intrathecal Trial Update – Words on a Page

    It is quite strange to see the last few years of your life boiled down to a few paragraphs of text and a line on a chart. It is even…

  • It is circled on our calendar. Valentine’s Day. We eagerly anticipate the possible cards and gifts and extra hugs that it will bring. We relish in giving surprises or even...0February 14, 2013

    When every day is Valentine’s Day

    It is circled on our calendar. Valentine’s Day. We eagerly anticipate the possible cards and gifts and extra hugs that it will bring. We relish in giving surprises or even…

  • We go by many names. Patient advocate -> advocating in health care. e-Patient -> using the internet to gather health information and cope with your condition. Parent Advocate -> advocating...0February 5, 2013

    Patient Strategist? Well, yes I am.

    We go by many names. Patient advocate -> advocating in health care. e-Patient -> using the internet to gather health information and cope with your condition. Parent Advocate -> advocating…

  • I recently wrote an article that was published today in the Positive Exposure newsletter about my experience visiting the Hunter in Focus exhibit this year in NYC.  Go Ahead and...0January 24, 2013

    Go Ahead and Stare

    I recently wrote an article that was published today in the Positive Exposure newsletter about my experience visiting the Hunter in Focus exhibit this year in NYC.  Go Ahead and…

  • For Part 1 of this series: Why I Fear the Bubble, Part 1: The Pricing of #RareDisease Drugs —————- One thing I took away from the World Orphan Drug Congress...0January 10, 2013

    Why I Fear the Bubble, Part 2: A Crash at the Intersection of Personalized Medicine and #RareDisease Research?

    For Part 1 of this series: Why I Fear the Bubble, Part 1: The Pricing of #RareDisease Drugs —————- One thing I took away from the World Orphan Drug Congress…

    Pin It
  • NPS Pharmaceuticals just this week priced their drug for short bowel syndrome, Gattex, at an annual cost of $295,000 per patient. This price may not raise too many eyebrows among...4January 5, 2013

    Why I Fear the Bubble, Part 1: The Pricing of #RareDisease Drugs

    NPS Pharmaceuticals just this week priced their drug for short bowel syndrome, Gattex, at an annual cost of $295,000 per patient. This price may not raise too many eyebrows among…

    Pin It
  •                   Enough said.0December 31, 2012

    New Year’s Resolution

                      Enough said.

  • I had a great conversation a few months ago with my friend Chris Dutcher, an adult with Hunter Syndrome. Now if you’re a friend who may only know Case’s “version”...0December 7, 2012

    Hunter Syndrome 2.0

    I had a great conversation a few months ago with my friend Chris Dutcher, an adult with Hunter Syndrome. Now if you’re a friend who may only know Case’s “version”…

  • We are pleased to announce the two winners of $50 gift certificates to ARKTherapeutic.com…. First of all, thank you to all who entered our first giveaway. Please spread the word...2November 26, 2012

    And the winners are…

    We are pleased to announce the two winners of $50 gift certificates to ARKTherapeutic.com…. First of all, thank you to all who entered our first giveaway. Please spread the word…

  • Are you interested in some of the fabulous products offered by ARK Therapeutic Services? I received a great response to my earlier post on chewies and thought we could do...24November 9, 2012

    Special Needs Giveaway! Two $50 credits to ARK Therapeutic!

    Are you interested in some of the fabulous products offered by ARK Therapeutic Services? I received a great response to my earlier post on chewies and thought we could do…

  • Success. The event was a success. Lives were touched, awareness was raised, and connections were made. Were Case there, he would have pointed at the tall picture of himself, danced...1October 30, 2012

    Live at “Hunter in Focus”

    Success. The event was a success. Lives were touched, awareness was raised, and connections were made. Were Case there, he would have pointed at the tall picture of himself, danced…

  • Perfection When you first hold that baby, he is perfect. Small and beautiful and perfect. And the first time that someone tells you he isn’t perfect is hard to swallow....2October 22, 2012

    Through His Eyes: Behind the scenes of “Hunter in Focus”

    Perfection When you first hold that baby, he is perfect. Small and beautiful and perfect. And the first time that someone tells you he isn’t perfect is hard to swallow….

  • Mayo Clinic Social Media Residency – Day 1 Recap —————————————- A chasm. That is what I see. A giant chasm between you and me. We write, we speak, we fight...0October 16, 2012

    A Social Media Chasm Between Providers and Patients

    Mayo Clinic Social Media Residency – Day 1 Recap —————————————- A chasm. That is what I see. A giant chasm between you and me. We write, we speak, we fight…

  • Yesterday I arrived in Rochester, Minnesota, preparing to participate in the Social Media week events, including the Social Media Residency, Social Media Summit, and meeting of the Social Media Health...1October 15, 2012

    Why social media?

    Yesterday I arrived in Rochester, Minnesota, preparing to participate in the Social Media week events, including the Social Media Residency, Social Media Summit, and meeting of the Social Media Health…

  • Doctors/therapists Case sees

    Audiology (UNC & Vanderbilt)
    Cardiology
    Genetics (UNC & Vanderbilt)
    Neurologic Music Therapy
    Neurology
    Neuropsychology (UNC & Colorado)
    Occupational therapy
    Ophthalmology
    Orthopaedics
    Otolaryngology (ENT)
    Pediatrics
    Physical Therapy
    Pulmonology
    Speech and Language Pathology
    Urology

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  • Archives
    • ▼ 2013 (22)
      • ▼ June (2)
        • Intrathecal Trial Update - "Jeep for me!"
        • Rare Disease, Rick Guidotti, and Redefining Beauty
      • ► May (3)
        • Celebrating Case's Heart on MPS Awareness Day
        • Media: Mucopolysaccharidosis and Other Rare Disease in the News
        • Silent Siblings: MPS and special needs can take their toll
      • ► April (6)
        • Is a disability-free world a *perfect* world?
        • PICU, pulses, and oxygen
        • The Struggle
        • The Systemic Impact of Rare Disease: Medical, Emotional, Financial, Social
        • The Difference 4 Years Can Make
        • A Boy and His Boots
      • ► March (4)
        • Therapy Thursday: 4 Tips for Oral Health with Children with Special Needs
        • Shire HGT's #RareDisease Developments
        • Birthdays, Blessings, & Burdens
        • The Difference: Parents vs. Big Pharma
      • ► February (4)
        • When Rare Just Isn't Enough: The Case of Elmiron
        • Intrathecal Trial Update - Words on a Page
        • When every day is Valentine's Day
        • Patient Strategist? Well, yes I am.
      • ► January (3)
        • Go Ahead and Stare
        • Why I Fear the Bubble, Part 2: A Crash at the Intersection of Personalized Medicine and #RareDisease Research?
        • Why I Fear the Bubble, Part 1: The Pricing of #RareDisease Drugs
    • ► 2012 (51)
      • ► December (2)
        • New Year's Resolution
        • Hunter Syndrome 2.0
      • ► November (2)
        • And the winners are...
        • Special Needs Giveaway! Two $50 credits to ARK Therapeutic!
      • ► October (5)
        • Live at "Hunter in Focus"
        • Through His Eyes: Behind the scenes of "Hunter in Focus"
        • A Social Media Chasm Between Providers and Patients
        • Why social media?
        • Seeing the Future
      • ► September (4)
        • Dragon Moms
        • Boys with Bigger Hearts
        • IEPs for degenerative diseases
        • Personal care services to the rescue
      • ► August (7)
        • Equipment Series - Part 3: Making the best arguments for insurance coverage
        • Equipment Series - Part 2: Evaluating and comparing special needs strollers and wheelchairs
        • Equipment Series - Part 1: Before, during, and after the equipment evaluation
        • Equipment Series - Introduction: Special needs strollers and wheelchairs
        • Standing up for "invisible" illnesses
        • Therapy Thursday: Chewies, Chewelry & More
        • What would you do?
      • ► July (3)
        • Just a little vote please!
        • Letting Go
        • Orphan Drug Development Requires Unique Strategies
      • ► June (4)
        • Intrathecal Trial Update - New port (hopefully)
        • A Reckless Love
        • Better Apple Accessibility
        • Intrathecal Trial Update - Highs and Lows
      • ► May (4)
        • He's got skills
        • Anticipation ... and flying
        • MPS/ML Bookshelf
        • Monitoring Ultra Rare (MPS/ML) Pharma
      • ► April (7)
        • Sometimes we run, when we don't want to
        • Can I run too?
        • What we want from (big) pharma
        • Case enjoyed the World Orphan Drug Congress (& so did I)
        • Reversal of Fortune? Where Profits and Patients Collide
        • Doing our Part in the Rare Disease World
        • Ebook Calmer is now available!
      • ► March (2)
        • Upcoming e-book release!
        • What's in a [burth-dey] anyway?
      • ► February (6)
        • Hope ... and Chaos: Rare Disease Day
        • As we watch the bridge...
        • And his name was Flower...
        • Newly Diagnosed Families: Airport Advice
        • Special needs means ... special gifts
        • Intrathecal Trial Update - Of Ports and Prayers
      • ► January (5)
        • The Cure Theorem: a rare disease proposition
        • This is for all the Calebs
        • Making a UNC Visit?
        • Reading and Influencing Research
        • 30 seconds worth...of hope
    • ► 2011 (53)
      • ► December (4)
        • Newly Diagnosed Families: Handling the Stares and Comments
        • A Christmas Lullaby
        • And for the rest of the story...
        • Reflections on a Clinical Trial: after 12 months
      • ► November (4)
        • What I wish I'd known about home infusions
        • Newly Diagnosed Families: Helpful Supplies
        • Resource highlight: HunterPatients.com
        • Normal isn't necessary
      • ► October (8)
        • Anatomy of an Intrathecal Clinical Trial Visit
        • Advocacy Series: Advocacy in 4 Steps
        • Once Upon a Cure: Part II of our interview with Deb Purcell
        • Fundraising, gala style: Once Upon a Cure, part I of our interview with Deb Purcell
        • Therapy Thursday: Sensory Integration and Sensory Diets
        • Just keep swimming...
        • And still lives there with his family...
        • Intrathecal Trial Update - Trial structure
      • ► September (3)
        • Intrathecal Trial Update - 10 down, forever to go
        • Got Diapers? Diaper coverage by insurance
        • Therapy Thursday: Sequencing steps to help your child
      • ► August (3)
        • Newborn Screening for MPS
        • My 99: Reviews of iPad Apps for Kids
        • MPS Family Conference 2011
      • ► July (4)
        • Rare Disease Leadership Summit
        • Therapy Thursday: Puzzles
        • Milestones
        • Why we have (MPS) friends
      • ► June (6)
        • We are the world
        • An MPS Cardiology Visit
        • iPad2 - Gumdrops, Jailbreaks, Garages, and Apps
        • MPS II Intrathecal Trial on Hold
        • The changed lives of MPS siblings
        • Intrathecal Trial Update - after 6 doses
      • ► May (4)
        • Therapy Thursday: Weighted Garments and Blankets
        • Top 10 Tuesday: UNC Ink
        • Reflections on MPS Awareness Day
        • Elaprase and Growth Predictions
      • ► April (7)
        • Be Still My Beating Heart
        • Games and Puzzles
        • Therapy Thursday: Making Weighted Toys
        • Top 10 Tuesday: Top 10 Signs Your Son is in a Clinical Trial
        • Therapy Thursday: Neurologic Music Therapy
        • Intrathecal Trial Update - after 4 doses
        • Case's Elaprase Treatment
      • ► March (4)
        • Recreation Therapy, Case style
        • One Port, Two Port, Red Port, Blue Port
        • The Reality of Hunter Syndrome
        • Our Hunter Boys
      • ► February (5)
        • Case singing Barney's theme song
        • Advocating for a special needs child
        • Passing the time...
        • What in the world is a lysosome?
        • Our buddy Easton
      • ► January (1)
        • Welcome to our world!
  • RSS My (un)Planned Son
    • A Re-imagined Christmas List December 11, 2012
      I'm kind of at my wits' end with Christmas lists. Are there things we'd like? Sure. Are there things we need? Not so much. But still we go through the process every year of looking through catalogs, daydreaming, and scrolling to find just those additional things to fill our house to (over)capacity. So why then do we make Christmas lists? Certa […]
    • Who you are October 14, 2012
      I heard a song recently and one line particularly stuck with me. It said, "sometimes pain's the only way that we can learn." Maybe that's true. I found my true self on April 6, 2009, lying flat on the floor sobbing for the life of my child. But what if that hadn't happened? What if Hunter Syndrome were never part of our lives? Would […]
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