Letter from our President

Friends,

When our daughter, Eden, was born in 2008 my wife, Caroline,and I were elated that she was joining her brother in our growing family. We experienced her birth like any family — with joy and expectations, dreams for the future, and pure happiness for the blessings before us.

Very soon afterward, however, we began to realize that something was not quite right with Eden’s development. The doctors we consulted didn’t seem overly concerned initially, but Eden wasn’t meeting early milestones of turning over, of sitting, of grasping, and her vision seemed problematic, as well. In our hearts, we knew that there was something deeper at play.

At eighteen months old, when we received Eden’s diagnosis of Mucoplipidosis Type IV, we were confused, heartbroken, and scared. And we also knew that we needed to be involved in the only organization, the ML4 Foundation, which had ever been established to fight for treatments and a cure for this disease.

Shortly after Caroline and I joined the Board of Directors of the ML4 Foundation in 2011 we worked with the board to create and fund the position of Executive Director for the Foundation. With this new professional funded and hired, board members have worked tirelessly to increase the visibility of the Foundation so we can achieve our goals of treatments and, ultimately, to cure ML4 for my Eden, and for the all the other children with this horrible disease. I invite you to view our videos to learn about the disease and the researchers who are working on treatments, like us on Facebook to see frequent updates from our Foundation , and sign up to receive our e-newsletter. Amazing research on ML4 is taking place at top institutions around the world and we look forward to sharing the bright future with you.

Please join us in our journey of hope and discovery,


Randy S. Gold

President of the Board
The Mucolipidosis Type IV Foundation
rgold@ML4.org

Randy Gold,
President

Paula Kutner

Michael Friedman, Ph.D.

Caroline Gold

Janet Price

David Reich

Types of ML4

Typical “Classic” Mucolipidosis Type IV (ML4)

  • Psychomotor retardation, similar to cerebral palsy
  • Mental retardation
  • Children typically reach a maximum developmental age of 18 months in language and fine motor function.
  • Receptive language abilities are better than expressive abilities
  • Hypotonia (low muscle tone), but tendon reflexes are usually spastic
  • Corneal clouding
  • Pseudo-strabismus (false appearance of crossed eyes)
  • Progressive retinal degeneration, resulting in blindness by late teenage years
  • MRI of the brain typically shows a thin corpus collosum, and delayed growth in white matter of brain (myelination)
  • Achlorhydria (lack of acid in the stomach)
  • Elevated gastrin levels in stomach
  • Anemia (iron deficiency)
  • Individuals with ML4 typically survive to early adulthood.

Atypical and Mild Mucolipidosis Type IV (ML4)

  • Individuals with Atypical or Mild ML4 are less severely affected than others with Typical “Classic” ML4
  • Some individuals attain the ability to walk independently. They develop slowly progressive ataxia and may have mild eye abnormalities
  • Other individuals have presented with progressive visual impairment while having relatively normal psychomotor development

Diagnosis

  • Individuals with clinical findings (symptoms) for ML4 can have a simple blood test to check for elevated gastrin levels.
  • Molecular genetic testing will confirm the diagnosis in most individuals.
  • Two mutations of the gene account for 90% of mutations in individuals of Ashkenazi (Eastern European) heritage.

Treatment

  • There is no medical treatment available at the present time.
  • Intensive physical therapy for spasticity and ataxia is highly recommended for acquisition of speech, feeding, and motor skills, and prevention of secondary complications such as tightened ligaments and difficulties with balance.
  • Some individuals may develop the ability to sit independently or crawl. Many have learned to walk with the aid of ankle-foot orthotics (AFO’s) and gait trainers.
  • Occupational, speech, and vision therapies are also highly recommended to improve life skills.
  • Spoken language is limited to a few or no words. Many individuals use some sign language to communicate.
  • Some children have had success with the use of “auditory scanning” to make choices.
  • Iron supplements are important to prevent anemia.
  • Pureed foods and thickened liquids are necessary for many individuals, to prevent choking and aspirating while eating.

Types of ML4

Typical “Classic” Mucolipidosis Type IV (ML4)

  • Psychomotor retardation, similar to cerebral palsy
  • Mental retardation
  • Children typically reach a maximum developmental age of 18 months in language and fine motor function.
  • Receptive language abilities are better than expressive abilities
  • Hypotonia (low muscle tone), but tendon reflexes are usually spastic
  • Corneal clouding
  • Pseudo-strabismus (false appearance of crossed eyes)
  • Progressive retinal degeneration, resulting in blindness by late teenage years
  • MRI of the brain typically shows a thin corpus collosum, and delayed growth in white matter of brain (myelination)
  • Achlorhydria (lack of acid in the stomach)
  • Elevated gastrin levels in stomach
  • Anemia (iron deficiency)
  • Individuals with ML4 typically survive to early adulthood.

Atypical and Mild Mucolipidosis Type IV (ML4)

  • Individuals with Atypical or Mild ML4 are less severely affected than others with Typical “Classic” ML4
  • Some individuals attain the ability to walk independently. They develop slowly progressive ataxia and may have mild eye abnormalities
  • Other individuals have presented with progressive visual impairment while having relatively normal psychomotor development

Diagnosis

  • Individuals with clinical findings (symptoms) for ML4 can have a simple blood test to check for elevated gastrin levels.
  • Molecular genetic testing will confirm the diagnosis in most individuals.
  • Two mutations of the gene account for 90% of mutations in individuals of Ashkenazi (Eastern European) heritage.

Treatment

  • There is no medical treatment available at the present time.
  • Intensive physical therapy for spasticity and ataxia is highly recommended for acquisition of speech, feeding, and motor skills, and prevention of secondary complications such as tightened ligaments and difficulties with balance.
  • Some individuals may develop the ability to sit independently or crawl. Many have learned to walk with the aid of ankle-foot orthotics (AFO’s) and gait trainers.
  • Occupational, speech, and vision therapies are also highly recommended to improve life skills.
  • Spoken language is limited to a few or no words. Many individuals use some sign language to communicate.
  • Some children have had success with the use of “auditory scanning” to make choices.
  • Iron supplements are important to prevent anemia.
  • Pureed foods and thickened liquids are necessary for many individuals, to prevent choking and aspirating while eating.