January 4, 2010

Edward’s Syndrome: What if He Survives?


By: Muhamad Na’im B. Ab Razak

4th Year Medical Student, Universiti Sains Malaysia


Five and half years old Malay boy with known cases of Edward Syndrome with global developmental delay is the last out of three siblings from non-consangious marriage presented to Paediatric Clinic for regular follow up. He comes from a family with low socio-economic status. His eldest brother was diagnosed with vesicourethral reflux with renal scarring and his maternal uncle has Down’s syndrome. Both of the parents were 33 years old at the time of his birth and he was delivered via emergency LSCS at full term due to respiratory distress. He was subsequently admitted to NICU for 11 days due to respiratory distress, however did not require any ventilation. At the time of birth, he was noted to have frontal bossing with hypoplastic maxilla, microcephaly, low set ears, prominent beaked nose, broad great toes and broad thumbs with abnormal hand simian creases (zigzag line). His chromosomal study shows karyotype 46, XY, t(18:18). There is Isochromosome of 18q with accompanying deletion of the p arm of chromosome 18. Previously, patient was recurrently admitted for left inguinal hernia, laryngomalacia and bronchopneumonia. Patient also has cortical blindness but no skeletal and cardiac abnormality. His mother insists on active resuscitation if anything goes wrong with him. Currently, patient still unable to sit but can roll over, can respond to call and sound by turning heads and able to babbling.


Discussion


Trisomy 18 was described by Edwards et al and Smith et al in the year of 1960 and it is the second most common autosomal trisomy in live born children after Down's syndrome. It is most commonly a result from total trisomy with small fraction of it is due to Mosaicism and Translocation.


The syndrome impacts severely upon intellectual and physical development and is three to four times more common in female with total incidence is about 1 in 5000 to 1 in 7000 live births.


According to Harold Chen, it is being estimated that 95% of conceptuses with trisomy 18 die as embryo or fetus and 5-10% of affected children survive beyond first year of life. The life born infants with trisomy has estimated probability of survival to age one month with 38.6% and 8.4% to age one year and median survival time was 14.5 days. The longest long term survival that has been reported till today is up to age 27 years old. High mortality rate is usually due to the presence of cardiac and renal malformations, feeding difficulties, sepsis, and apnea caused by CNS defects. Severe psychomotor and growth retardation are invariably present in those who survive beyond infancy


Zilfalil et al wrote that the pathognomic segment responsible for Edward's phenotype is thought to be located in the q arm. Hence Isochromosome 18q (complete triplication of q arm) is diagnosed as Edwards Syndrome. Triplication of various segment of the q arm does not produce the same phenotype. Individuals with partial trisomy 18 such as 18q2 trisomy, 18p and q1 trisomy have been reported in literature with range of severity from relatively mild phenotype with no internal organ malformation to classic characteristic of Edward's Syndrome.


Even though the risk factor for trisomy 18 is known to increase with high maternal and paternal age, the risk association of Isochromosome 18q with maternal and paternal ages has not been studied.


For those who have survived, there is no cure for Edward’s syndrome. Treatment usually more oriented to presenting symptoms and surgical correction of organ abnormality.


Patient with Edward’s usually died mostly due to congenital cardiac complication. Cardiac surgery has shown to be effective in prolonging the life of the patient.


However, in this case, patient has no cardiac abnormality which suggests that he might have a longer life. However, risk of death still high especially in term of sepsis. Therefore, the right for resuscitation should be discussed properly with the parents.


In view of low economic status, the patient’s condition might be impaired in term of inadequate nutritional support, emotional support and tiredness of parent to strictly monitor the patient. Therefore, this factor might lessen the patient’s life. In this case, parents still insist on active resuscitation, presumably due to tight bonding between the mother and son. However, some of the parents might already give up and ready to let the patient go. Even so, they might need a day or two before fully mentally prepared to accept the loss of the child. Thus, temporary ventilation might help the parents. Therefore, agreement should be made between physician and the parents in regards the best option for the patient’ sake.



download pdf [here]


Reference


1) Harold Chen, "Trisomy 18", eMedicine, 2009

http://emedicine.medscape.com/article/943463-overview

2) Marilyn J. field & Richard E. Behrman, “ When Children Die: Improving palliative and End of Life Care for children and Their Families”, The National Academic Press, Washington, 2003

3) Pal S, Siti M I, Ankathil R & Zilfalil B A, " Two cases of Isochromosome 18q syndrome", Singapore Medical Journal 2007; 48(5) : e146

4) TRISOMY 18 – Edwards syndrome, Centre for Genetics Education

http://www.genetics.edu.au

22 comments:

  1. Finally a local info on trisomy18. when my daughter was born 12 years ago info like this was hard to get. even the local general hospital was ill-informed. she was placed in scn (special care nursery) soon after birth for 2 weeks. cromosomal studies done, confirmed.

    the doc wasn't tactful at all. my wife broke down and cried. i managed to stay sober. but one comment i will never forget. cruel remark made by the paed. "child like this normally will die within one month. none survived more than a year in malaysia. we can't do anything to her. we recommend you to bring her back (to die) with her family."

    we didnt say a thing. brought her back and vowed to prove the doctor wrong. we did. it was a tough fight. we fought illness after illness. all without doctors. credit to this incredibly strong child.

    after 7 years again we had to bring her for a checkup to enable her to be registered with social service dept. again the doctor let her down. upon asking what can be done to improve the child's quality of life, the doc replied that she doesnt have a clue and asked me back what she needed.

    it has been 12 years. the child written-off by the paed is still alive and well. alhamdulillah. although she is a total dependent, we love her so much. she cant talk, sit or walk. but she can cry and has the sweetest smile that is priceless that no doctors in the world can take away.

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    1. salam dear anonymos, i read ur comment wth much interest. i was kind of excited that there r indeed a local case near to home which i hope i can refer to for help n guidance. my wife n i r expecting our 2nd child, wth a cfmed prognosis of an edward syndrome. due this coming 2nd of mar 2014. appreciate greatly if you could drop me a line @ 0142639141. drs hv been saying that e baby cant last e pregnancy but here we r, at e tail end of pregnancy. sesungguhnya Allah knows best. appreciate ur call. salam

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    2. Be strong. We have better medical awareness and facitilies now.

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    3. yes.. keep on fighting. there's still a chance eventhough it is only 0.1%.. be prepared physically and mentally.

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    4. Assalamualaikum. My son is already 7 months now. I received the same cruel remark by the paed at SCN in Seremban Hospital. ".... to bring him back (to die)..." I am still hoping for a miracle and will never stop searching for info and remedy for him although non of the doctors I met were care to help. Application for OKU card was also put aside as KIV by the MOH officer.

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    5. w'salam.. i wrote the 1st comment on 14th oct. I understand your situation. quite a coincidence that the uncaring attitude of sban SCN hasnt changed. the doctors have no interest in attending these children without future. they are forgetting that they are morally obligated to ensure that lives can be extended even for a minute. like i said.. you are on your own. gather info.. learn.. in sya allah.. life is in the hands of Allah not doctors. have faith in that. i prayed that she will accompany us for many years. she did faithfully. we brought her on flights to langkawi, sabah and sarawak like her other siblings. finally exactly 44days after i returned from hajj, she was too ill. i told her that night that i understand she was in pain and i understand if she had to go. that next morning she pass in her sleep.

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  2. to anonymous.

    Dear sir,

    Thank you for your sharing. it truly enlighten me regarding this issue from the perspective of patient relative.. I hope that you will still strong and be patient in undergone this test..

    For your information, the article that I wrote is based on the case of trisomy 18 that I see when I’m attached to one of the pediatrician specialize in genetic in our hospital, HUSM.

    The case actually was published by his team few years back and I quote some info from their publication as well.

    Reading your comment reminds me regarding my way of thinking before joining that professor's clinic.

    I used to think that Edward syndrome patient wont survive and their prognosis is very bad. I also used to down grading the role of resuscitation in this kind of patient

    But he truly changes my way of thinking. I can say that he fight very hard for the right of Syndromic patient. for him, every child has the right to live even just for a moment. we, as a doctor need to be there and fight together with the patient.

    However, when the prognosis is really bad, therefore a good discussion needs to be conducted between physician and relative so that both party will understand the benefit and harm behind any decision.

    Thanks again for the sharing. may her smile continue to shine the life of both you and your wife. May Allah bless you always sir.

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    1. Thank you for the kind remark. it had been a while since i last visited this page. I sincerely hope that you have been a better doctor than we had ever encountered. i do not wish to question the balance between prognosis and ethics. but i my case, the doctors was quick to write off our child as no attempt was made to see our child again or for any referral to any other clinics. they simply thought no point wasting their time. she was too weak to feed, had a hole in her heart and not fully formed skull. when asked whether there was anything we could do to improve it, we were told that she is a child with no future and it was medically unfit for such surgery. we were not even taught to address such situations. we were literally thrown out of SCN. we were on our own.. we had to find out ourself how to force feed her. we had to find out ourself how to handle her when she turned blue when her heart failed. and to be careful with her skull. THERE WERE NO DOCTORS INVOLVED! we turned to Allah. the ultimate guardian. sleepless efforts.. lots of doa.. and faith..
      To the 1998 doctors of SCN seremban hospital.. i wish i had remembered you as the doctors that assisted us. but instead i remembered you all as the ones who dropped the axe. alhamdulillah, our daughter is now 16. she has curious eyes. smart in her own ways.

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    2. thanks.. i wish i can have the oppurtunity to see your wonderful child

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  3. Thanks for the info..I have just delivered a beautiful daughter Khayla with Edward Syndrome, I was so sad at first because she is my first child..the docs said "blame it on the perubatan because there's nothing we can do now" and asked us to bring her home..what a heartbroken news.

    Today it has been 16 days Khayla struggled to breathe, it is so sad to see her condition, but both me & husband try to cherish every second, minutes and day with Khayla.

    Hopefully all family with Edward Syndrome child will be patient..you are not alone, and thanks to this blog for the info about Edward Syndrome.

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    1. it had been 3 years. i hope khayla is doing well. surprisingly we received almost the same remark from the docs. come on docs. you can do better than that. take out the appointment cards and schedule us for the next visit. you'll never know.. surely there's something you can do to improve the quality of life of these tiny patients.

      to those searching for more info:
      http://trisomy.org/

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  4. my wife delivered at 7pm today. surprising that my baby got edwards syndrom. may anybody call me to share their experience ? im azlan 012-3732079

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    Replies
    1. this response is 3 years late. hope it will benefit someone in future. i pray that your baby is a survivor. from our experience, the main problem we encountered was common illness. a flu that catches us for 3 days can take up to 3 months for our child to heal. so we avoided unnecessary public contact. the general public can sometimes be insulting.

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  5. Hi sir,
    I need some info. My first baby having this Edwards Sydrome and she also have a heart problem. She only manage to survive for 10days. Now I'm pragnent again. Is there any possiblity its will happen again? I'm Esther.

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    1. i know my response is 2 years late. but it may help those seeking similar answers in future. we hav another child after our T18. alhamdulillah he is normal. you can request amniocentesis to be done to ensure that the baby is free from the condition.

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  6. It is possible but the percentage of probability of having another child with this syndrome varies from person to person.

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  7. as-salam, dr. just an update. our beloved daughter passed away in her sleep at the age of 16 years 8 months. she had phlegm for 2 weeks. i believe she succumbed to pneumonia. i somehow knew she was leaving and watched her in her sleep for quite some time on her final day. i thank Allah for lending us this girl from heaven and for having the opportunity to share our life with her for 16 years. she remained a baby for 16 years and will always remain so in our heart. may we meet again in the next world, my child. In sya Allah.

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