Pompe Disease

Medical Alert Page

My Name is Julie Garfield and I have a rare metabolic condition called Pompe Disease, it is a form of Muscular Dystrophy.

Please read the following before treating me as it may save my life.

Personal Information

Next of Kin: Simon Garfield – Husband – Tel: 07903 661 326

Date of birth: 30/05/1968

Home address: 9, Harlston Road, Oscott, Birmingham, B44 8RP

Medical Contact details:

NHS No: 6086 334 064

Queen Elizabeth Hospital – IMD Consultant – Tel: 0121 627 2000

Please follow the instruction below to make life safer for me.

  • IMPORTANT
    • Do not lay flat or recline too far as this will affect my ability to breathe.
    • I use a BiPAP ventilator to breath when reclined.
    • My BiPAP/Ventilator Settings:
      • Inspiratory 14 cm H20 –
      • Expiratory cm H20
    • Do not give hi-flow oxygen. !!! Please read Oxygen Caution below !!!

Oxygen Caution

Respiratory Care Information

  1. Normal Partial Pressure of Carbon Dioxide (PC02) and
  2. End Tidal Carbon Dioxide (CO2): 35-45 mmHg
  3. Normal Oxygen Saturation (Sa02): 95 – 100%

Important: High Flow Oxygen may shut down my breathing

Do not give me oxygen before checking end tidal or blood C02 levels. A low oxyhaemoglobin saturation may indicate C02 retention and need positive pressure ventilation.

If supplemental oxygen is given continuously monitor C02 levels. Non-invasive bi-level ventilation will be required.

Mechanical cough assist may be needed to clear mucus.

I will need help:

  • Rising from the floor or a seat
  • I use a wheelchair

The symptoms of Late Onset Pompe Disease (LOPD) are listed below.

People with LOPD may have some or all of the symptoms below.

Head and Shoulders

  • Muscle weakness in eyes
  • Dropped eye lids
  • Morning headaches
  • Sleep apnoea
  • Uses a BiPAP to breathe
  • Difficulty swallowing
  • Difficulty clearing airway after eating
  • Weak cough
  • Difficulty clearing throat
  • Speaking voice changed, volume, texture
  • Impaired alertness

Arms and hands

  • Weak grip
  • Struggling to hold items
  • Arms feeling heavy
  • Difficulty lifting arms above shoulders

Body/Torso

  • Protruding stomach
  • Bowel issues
  • Bladder frequency/leakage
  • Respiratory insufficiency/failure
  • Muscle weakness in mid section
  • Difficulty bending and straightening
  • Continence Issues

Hips and Legs

  • Difficulty getting up from a seated position
  • Difficulty bending and straightening Difficulty climbing stairs
  • Weaker front thigh muscles Unsteady when standing for longer periods
  • Waddling gait
  • Unable to stand alone
  • Muscle cramps
  • Struggling to walk
  • Thicker calf muscles
  • Tightness in calf muscles
  • Pain when standing for short/long periods
  • Unsteadiness when turning round
  • Difficulty lifting foot
  • Dropped foot, sometimes feels heavy/sags

I am reliant on a wheelchair

General Well Being

  • Feeling tired
  • Temperature regulation – feeling hot/cold
  • Tremors – feeling shaky
  • Limbs feeling heavy
  • Feeling totally exhausted
  • Mental health – depression/anxiety

Test Results (may show anomalies in the following)

  • Low oxygen levels
  • Raised CO2 levels
  • Raised Creatine kinase (CK) levels

I am on Enzyme Replacement Therapy (ERT) – home infusions.

Addition Support and Therapies

This person will also have a metabolic consultant that should be consulted prior to treatment and/or therapies.

  • Enzyme Replacement Therapy
  • Dietitian  – High protein, low carb, low sugar
  • Physiotherapist – 70% sub maximal
  • Counselling – Mental Health
  • Respiratory Consultant 
Symptoms list julie garfield in wheelchairDownload