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Aminisha Jasmin - 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

 

B. About the Disorder

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

 

C. Personal History

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.

Amir Hamzah - Achondroplasia (Dwarfism)

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

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]

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

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Key Challenges

  • Physical
  • Psycho-social

Key Medical Conditions to watch for

  • 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

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

  • 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.
  • 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.

  • 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

  • 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
  • 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

Hui-Yin - Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC Syndrome)

A. Profile

Name: Pang Hui-Yin

D.O. B: Mar 25,2004

Disorder: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC Syndrome)

 

B. Hui-Yin’s Story

Before Hui-Yin was born, my husband and I had no inkling at all of what was to come. The gynecologist only mentioned that she would be a small baby. The delivery did not take very long, unlike my previous two children. Immediately after the delivery, the gynecologist told me that baby had some problems with her mouth and hand. Within an hour, the pediatrician came to me and said that he believes she has a condition called trisomy 13. He said trisomy babies generally do not live long. I can still remember his words that this baby may have “3 days, 3 weeks, 3 months”- he didn’t know. He did say his preliminary diagnosis was subject to a blood test.

We were shocked. For the next few days we could only cry and grieve. We did not know whether she would live or die. And then, the blood test results came back. It was negative. She did not have trisomy 13. We were referred to a geneticist. He ordered another blood test. It came back negative too. He then diagnosed her condition as Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome or EEC Syndrome. As the long term prognosis for this syndrome was good, he advised us to proceed with her care and to repair her birth defects. Her immediate problems were a hole in the heart and a cleft lip and palate. She also has a shortened right hand that is missing 3 fingers.

The geneticist was very kind. During the appointment she was having a fever. As there was a bed available, the doctor immediately admitted her. After 3 weeks in the general ward, I was exhausted taking care of her. One night she vomited and did not stop crying. The doctor decided to transfer her to the intensive care unit. My heart sank.

In the ICU because of her heart condition, she was placed on a bi-pap machine to help her breathe. The doctor told me that this particular hospital was the only hospital in the Klang Valley or maybe West Malaysia to use that kind of machine on children (at that time). During Hui-Yin’s stay in the ICU for 1 month, surprisingly she had no infection, no vomiting and no fever. She increased in weight and was ready for the heart operation in a shorter time than if I had her at home. At every turn, when I thought things were getting worse, instead it turned out for the better. She had a successful heart operation after that.

In the early hours of 31 August, I watched the fireworks going off at Taman Jaya from the hospital window. It was truly merdeka for me. Hui-Yin was discharged from hospital that day.

At home, I still needed to feed her by tube every 3 hours. The plastic surgeon said I had to get her used to feeding with a bottle. It would help in her food intake and speech later on. I experimented with all types of bottles bought from the pharmacy. Finally through the Cleft Lip and Palate Association of Malaysia, I was able to obtain a softplas bottle. She could suck when I squeezed the bottle and I could see how much she was drinking. It was still hard work as she could only take in 1 ounce of milk each feeding.

At 6 months old, I look back in amazement at her. She was breathing normally, she was not dependant on oxygen and there was no feeding tube sticking out from her nose. She was alert and responsive. I remembered my first glimmer of hope given by the geneticist. He said that these children may surprise you. In 2 years’ time, they come through your door and say “Hello, Doctor!”.

Hui-Yin underwent surgery to repair her cleft lip at 1 year old and her cleft palate at 2 years old. The delayed time for the surgeries was due to her low weight. After her cleft palate surgery, she was able to eat more and gained weight. She started walking. When she turned 3, she started talking. Maybe about 10 words but very precious. Although she did not say “Hello” to the doctor at 2 years of age but she could say those words eventually.

She is now 5 years old. She loves going to kindergarten. She can write ABC’s using her left hand and read her storybooks. She plays with her sister and bullies her elder brother. There’s still speech therapy and monthly dental appointments. The road behind us has been long and winding but the road ahead seems straighter. The sun is shining as we tread forward.

It’s my 7th birthday and Mummy baked the cake. I want my next birthday to be in KFC and I want an Angry Bird cake!

PS: Hui-Yin is now in Year 2 in a nearby Chinese school (2012). She find Maths and Chinese tough but she integrates well in school and is independent. She likes to play the piano and here is a short piece for you to enjoy. Click on the link below. So watch out Hee Ah Lee (the four fingered pianist from Korea), here comes Hui-Yin.