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Aminisha Jasmin (Congenital Disorder of Glycosilation (CDG) Type 1b)

Congenital Disorder of Glycosilation (CDG) Type 1b

A. Profile

Name : Aminisha Jasmin binti Mohd Remei
DOB : 17 May 2004
Disorder : Congenital Disorder of Glycosilation (CDG) Type 1b

General

  • Metabolic disorder – in layman’s terms the body is unable to process protein.
  • Type 1b has no known cure; management of symptoms only
  • Life expectancy of approximately 7 months to 1 year
  • Aminisha’s case is the first known and diagnosed case in Malaysia.

Key Features

  • Physical (observed at delivery)
  • Elfin face
  • Low placement of ears
  • Fatty deposits at buttocks

Physiological Features

  • Low weight gain due to non absorption of protein
  • Bloating
  • Pericardial effusion – affecting the heart rate and beat strength
  • Anaemic
  • Hypothermic

Key Challenges

  • Management of symptoms i.e. frequent hospitalization and constant vigilance
  • Emotional stress at knowledge of imminent death

Key Medical Treatment

Management of symptoms only

    • Tube feeding
    • Plasma transfusion
    • Extraction of excess fluids

Initial Discovery

  • Discovery only at delivery when O&G noted physical features/symptoms and requested blood test to confirm condition; otherwise, birth weight and length were normal.
  • There was no indication of abnormalities prior to delivery, during ante-natal check ups.
  • Condition result of co-sanguination with each parent carrying a mutated gene. There were no (known) previous cases of the disorder in the family.

Family Initial Reaction

  • Actual condition and its implications were made known only to immediate family.
  • Feelings of shock, especially at the inevitability of premature death; disappointment, disbelief, sadness.

Current Activities to Manage Medical Challenge

  • Parents to undergo genetic counselling.
  • Future pregnancies recommended to carry out Chorionic Vilus Sampling (CVS) since there is a 25% chance of baby being afflicted.

Lessons Learned for Sharing

  • Acceptance of condition and implications. Make the most of the time that we have with our child.
  • Family emotional and practical support essential.
  • Important to carry out screening especially if there is a known genetic risk. This is will help better prepare us emotionally and psychologically for future and decision-making.

Moving Forward

  • CDG sites plenty but more medical research-based. Also, there are many types of the disorder with differing treatments, if at all applicable.

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