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Personal Stories For Sharing - Amir Hamzah

 

A. Profile

Name: Amir Hamzah bin Fadhil Hassan Ismail Yassin

D.O. B: Sept 24,1999

Disorder: Achondroplasia ; also known as Dwarfism

 

B. About the Disorder

  1. General
    • Change in the genetic information for fibroblast growth factor receptor 3 (FGFR3) [1,2]
    • The chance of occurrence is 1 in 15 000 births [1] to 1 in 26 000 births [4]
    • At least 75% -90% cases of achondroplasia occur in families in which both parents have average heights [1,2]
    • The disorder affects bone, skin and muscle
    • Normal intelligence , life span and productivity [1,2]
  2. Key Features [2]
    • Disproportionate short stature, with shortening of the proximal segment of the limbs
    • A prominent forehead
    • A flattened midface
    • An average size trunk
    • Trident fingers
  3. Key Challenges
    • Physical
    • Psycho-social
  4. Key Medical Conditions to watch for
  5. Infancy/Early childhood [2]

    • Hypotonic (low muscle tone) and often delayed motor milestones
    • Bowing of the knees
    • Otitis media (middle-ear infection)
    • Symptomatic airway obstruction
    • Development of thoracolumbar kyphosis
    • Symptomatic hydrocephalus
    • Symptomatic upper cord compression

    Adulthood [2]

    • Related to lumbosacral spinal stenosis with compression of the spinal cord or nerve roots
  6. Key Medical Treatment may include
    • Physiotheraphy to guide timely development of motor milestones
    • Corrective surgery to manage bowing of the knees
    • Corrective surgery to manage kyphosis
    • Surgical decompression

C. Personal History

  1. Initial Discovery
    • About 5 months in the womb from fetus imbalance size of limbs, head and upper torso
    • Informed by gynecologist from monthly ultra sound; terms used was ‘achondroplasia’. Limited discussion as the situation was yet to be confirmed and doctor felt that it was not necessary to be unduly worried.
    • On the same day, seeked second opinion from another gynecologist who confirmed and introduced the term ‘dwarfism’; a few comedians were used as examples to illustrate point. As-matter-of-factly informed.
  2. Family Initial Reaction
    • Upon discovery, surprised as there are no family history of genetic disorder of this kind. Mixed feelings of confused (no family history on dwarfism), sad (for the seemingly-imperfect baby) and anxious (for uncertainties ahead) for one day. Family members were quick to come around to provide emotional support and arrest the ‘feeling down’.
    • Upon birth and further confirmation by pediatrician, initial mixed emotions turned into concerns for Amir’s future. Angry for visitors who were quick to point out on ‘how different he looked’ and angry for visitors’ interpreted- facial expressions of ‘Thank God it’s not me’. First week was a soul-searching week i.e. What did I not do right and why us. Nevertheless, never cried and never ashamed.
    • Snapped out of feeling low when Amir’s father said, being different does not make Amir less a son and less a gift from God. Since then, it has been charging ahead.
  3. Current Activities to manage medical challenges
    • To build self-confidence and “I can do” attitude
      • Swimming since 3 years old . Also for health reasons i.e. to strengthen back muscle as dwarfs are expected to be prone to back problem. Could swim well only at age 8 + years after three swimming instructors.
      • Playing musical instrument. Started with cello at age 3 years old which only lasted for 3 months because of weak fingers; moved on to piano at age 6 years old. Also for health reason i.e. to strengthen finger muscles which resulted in faint hand writings.
      • Picking-up martial Arts Tae Kwan Do. Started at age 8 years old but temporarily stopped for spinal surgeries/recoveries.
    • To build social & living skills
      • Participating in activities by Persatuan Orang Kerdil Malaysia (PKOKM) since 4 years old; Amir responses positively and enjoys the peer support.
      • Getting involved in other organizations like Yayasan Anak Warisan Alam (YAWA) ~ youth environment group. Important for early integration with the majority. Attended environmental camps at age 8 years old.
      • Participating in public events like local walkathons since 3 years old to meet other physically challenged participants who thrives on sports.
    • To build academic and cognitive capabilities
      • Attend normal school systems i.e. nursery, play group, pre school, Agama School and primary school. Now in Primary 3.
      • Attend Kumon Classes (twice weekly) since age 8 to train early discipline
      • Home-tutored (twice weekly) for Quran reading and general moral & ethics; self-acceptance is emphasized
  4. Lessons Learned for Sharing
    • It’s ok for parents to be confused, sad or angry; get through the initial phase and embrace acceptance quickly because there’s a lot to be done!
    • Register your child with the Welfare Department; be aware of his benefits under the Persons With Disabilities Act 2008 (Act 685)
    • Work with a geneticist who will track the child overall development
    • Consult more than one doctor for every medical decision, especially major ones.
    • Identify an association or support group link to your child’s condition for peer support and general reference
    • Make adjustments accordingly – re prioritize daily routines, spending trend and your own career plans. Be ready to change general lifestyle and living conditions.
    • Keep minders, teachers informed of our child’s condition; get them involved
    • Parents to stay fit and healthy (mentally, physically and spiritually)
    • Parents to educate themselves about the disorder from various sources (family doctor, genetic expert, associations, medical journals, books and web references) so they could plan better
    • Parents to have a road map for the child (medical, financial, education, psycho-social and living skills)
    • Parents to be ahead (financially, emotionally) at all times for smooth embrace of unexpected situations.
    • Talk to your child about his condition and his feelings regularly
    • Keep inspiring stories (from magazines and others) of the seemingly disabled people for the child’s motivation
    • Discipline the child just like the other children
    • Do not abandon other normal children and maintain dedicated time with each one

  5. Moving Forward
    • Useful Web for reference
      • www.lpa.com
      • www.pkom.org.my
      • www.minds.org.my
    • Recommended books/literature/journals
      • J.Osteochondrodysplasias, page 346
      • American Academy of Pediatrics, PEDIATRICS Vol. 95 No.3 March 1995
      • Prospective Assessment of Risks for Cervicomedullary –Junction Compression in Infants with Achondroplasia; Richard M.Pauli, V.Kim Horton, Lisa P.Glinski and Catherine A Reiser; Department of Pediatrics and Medical Genetics, University of Wisconsin, Madison
      • Medical complications of achondroplasia: a multicenter patient review; AG W hunter, A Bankier, J G Rogers, D Sillence, C I Scott Jr; American Journal of Medical Genetics 1998; 35:705 – 712
      • Growth of Foramen Magnum in Achondroplasia ; JT Hecht, W A Horton, C S Reid, R E Pyeritz, R Chakraborty; American Journal of Medical Genetics 1989; 35:528 – 535
    • Available Support Group in Malaysia
      • Malaysian Rare Disease Association
      • Persatuan Orang Kerdil Malaysia
      • Minds

 

 

 

 

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