Rapid Responses to:
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Rapid Responses: Rapid Responses published:
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![[Read Rapid Response]](/icons/misc/sectionDOWN.gif)
touching
- aisha malick, Louise Locock (20 November 2005)
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Patau Syndrome
- Yousef Shahin (21 November 2005)
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Absolute Perfection
- Claudia A Linton (5 December 2005)
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The parent's journey:continuing a pregnancy after a diagnosis of Patau's syndrome.
- Brian Alderman (9 December 2005)
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Re: Brian Alderman's response
- Louise Locock (10 December 2005)
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Re: Absolute Perfection
- ThereseAnn Siegle (11 December 2005)
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Keeping the baby; Parents need good support and understanding clinicians in Trisomy 13 and other severe disabilities.
- Dr Josephine Venn-Treloar, Dr Adrian Treloar (16 December 2005)
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aisha malick, gp registrar M192AF, Louise Locock
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Thank you to the author and parents in this article for sharing this story which brought us to tears. It was an eye-opener to being more sensitive to our patients too. Competing interests: None declared |
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Yousef Shahin, Pre-Registration House Officer ,General Medicine High Wycombe Hospital,HP11 2TT
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Dear Editor, Thank you for an interesting story that touched me deeply. I feel sorry for the parents who lost their son due to this rare syndrome and I assure them that it can happen to anyone.I am glad they decided to go on with pregnancy so that at least they have a memory of their son. I was touched very deeply and decided to write something about Patau Syndrome so everyone will know more about this rare syndrome. Patau Syndrome is the least common and the most severe of the autosomal trisomies.Survival is less than 3 days. Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body.In the US Incidence of Patau syndrome is approximately 1 case per 8,000-12,000 live births.A well-known association exists between Patau syndrome and increased maternal age. Median survival age for children with Patau syndrome is 2.5 days, with only 1 child in 20 surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected. Newborns with Patau syndrome present in the neonatal period with low Apgar scores, and they may have the following conditions: Cleft lip,cleft palate ,polydactyly, microcephaly,rocker-bottom feet ,microphthalmia ,scalp defects (cutis aplasia) omphalocele and hernias. When Patau Syndrome is suspected trisomy 13 is best detected through cytogenic study of amniotic fluid,chorionic villi or fetal blood.If fluorescent in situ hybridization (FISH) on interphase cells is used to obtain a rapid diagnosis, confirm results with conventional cytogenetic methods. Do not make irreversible pregnancy management decisions based solely on FISH results. Multiple marker screening is not usually sensitive in detecting Patau Syndrome. Ultrasound finding may include: Cardiac anomalies,omphalocele,renal anomalies, pyloric stenosis, neural tube defects and facial clefting. Recurrence risks differ based on the details of the chromosome abnormality and the mother's age. In general, for freestanding trisomy 13, the recurrence risk for trisomy 13 or another clinically viable trisomy (ie, trisomy 21, trisomy 18) is approximately 0.5% above the mother's age- related risk for autosomal trisomies. Prognosis:Ouite poor ,median survival is only 2.5 days, 82% die within 1 month, and 95% die within 6 months. I hope I offered some good information about Patau Syndrome and to the parents may your son rest in peace. Yousef Shahin, Pre-Registration House Officer,High Wycombe
Hospital,HP11 2TT.
References: 1.emedicine website,Patau Syndrome,Robert G Best,James Stallworth,John V Dacus.November 21 2002. Competing interests: None declared |
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Claudia A Linton, Mother London, England SE13
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Hi there, just wanted to add to the article about the Patau's baby. Four years ago following my 23 week scan of our second child, my husband and I were informed that I was carrying a child with all the signs of Patau syndrome. This was confirmed the following week and we were also told that our child had a ZERO percent chance of survival! I was so cross, as my baby, (a girl,we later learnt) was extremely active and although we were both terrified, the option of killing her was never even considered. In May 2001, she was born, her name was Josephine and she was from the first moment, the light of our lives. Her sister Eden adored her and everyone who came in contact with her was positively affected. After 6 weeks in the hospital she came home and was not to have another emergency hospital visit for 2 years. After that she became prone to ear, urine and chest infections, on a regualr basis. I honestly cannot express in words the profound and everlasting perfection and beauty she radiated. Our beautiful daughter died just this year, 10 days short of her fourth birthday and 6 days after the birth of our 4th child. I must also say that 10 days before she passed, she also outshone the bride, as a bridesmaid at my sisters wedding. (my sister would agree). The place was in tears. Having a Pataus baby is hard work but it is the most rewarding and easiest hard work ever...if that makes sense. I can only say to those people who are informed that their child has Patau's, that having that child, will bring only the purest love. And dont be scared, and the doctors dont always get it right. Josies funeral was packed to the rafters and I will miss her beyond words. She was perfection personified, and as a family we will never be the same. We would do the whole thing a million times over; the selfishness in me wants her back, but I have to remind myself, she is so much happier now. I hope you publish this and let people realize the positive, so outweighs the negative. Kind regards. Mrs Claudia Linton Competing interests: None declared |
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Brian Alderman, Consultant Obstetrician & Gynaecologist Arrowe Park Hospital, Upton, Wirral, CH49 5PE
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The report by Louise Locock describing "The parents' journey: continuing a pregnancy after a diagnosis of Patau's syndrome" is both sad and illuminating. However, no mention was made of whether the parents have chosen to have any prenatal screening tests. The mother described having a 10 week dating scan but no reference was made to either a nuchal translucency scan or serum screening. This reader was left with the impression that the parents had a 20 weeks scan "as an opportunity to see my baby", which is so commonly the case. However, the scan performed at 20 weeks is a detailed anomaly scan which has only one purpose i.e. to look for anatomical anomalies. It is not performed "routinely" but only if the parents wish prenatal screening when it would normally be offered as part of a prenatal screening package. If the parents were not made aware that the 20 weeks scan has a serious purpose and was not simply to allow them to "see their baby", then this raises questions about the quality of the counselling they had received. Competing interests: None declared |
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Louise Locock, Senior Qualitatie Researcher DIPEx Research Group, Dept Primary Care, University of Oxford, OX3 7LF
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Thank you for raising this topic. These parents had in fact taken an explicit decision that they did not want the triple test when it was offered. They knew this would screen for Down's syndrome, and did not regard this condition as sufficient reason (for them) to terminate, so decided they would prefer not to find out. However, as the mother said, at the time they had never heard of Patau's or Edwards' syndromes. The question of whether people can be effectively counselled about the full range of rare conditions screening may pick up is a difficult one. In saying they went along to the 20-week scan to see the baby, they were reflecting on the fact that, like so many other parents, they never expected anything to go wrong. In the analysis of the full dataset, this was a common theme - even people who did know at one level what the scan was for often still did not quite believe it could ever be relevant to them. Scans may not be performed routinely in staff eyes, but as Mr Alderman points out they are often perceived as routine by recipients. The scan as joyful event is a powerful cultural perception, and even high quality counselling and information may make little impression. This common gap between professional and personal understandings of the scan was described succinctly by another mother whose interview appears on the website as AN36 (www.dipex.org/antenatalscreening). After a low risk nuchal scan result, Edwards' syndrome was picked up at her 20- week scan and she decided to end the pregnancy. She said: 'My expectation was to be told that everything was fine, and the sex of my baby. And that was all I thought was going to happen, because there couldn't have been anything wrong, because everything so far had told me everything was OK. And even though I read the leaflet that said "this condition and that condition", none of it really sunk in....And I can look back and think how stupid I was that I didn't actually stop and think, why is the NHS investing this money in me if everything's going to be alright? They're doing it for a reason, and the reason is the negative reason rather than the positive one, but I just didn't, neither or us thought that. We just didn't think that at all.' Competing interests: Co-author of article |
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ThereseAnn Siegle, Raising 4 kids, youngest 5 yrs with Full Trisomy 13. 92649
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Dear Claudia, Thank you for sharing your story. I"m so happy that you were able to have so much time with your son. The prognosis for these kids is poor, It takes courage and hope to bring a child diagnosed prenatally to term. I am so happy for you that you felt you could embrace this life with the "inappropriate to treat" sign that hovers over this diagnosis. It is clear to see this child was a positive in your life and you are better for having traveled this journey. Please visit our site and meet some other families who have had and some who are presently raising a Trisomy 13 - Patau Syndrome child. http://www.livingwithtrisomy13.org Blessings, ThereseAnn Siegle mom to Natalia 5 yrs, Full Trisomy 13 Competing interests: We have a trisomy 13 support site. Does this qualify as competing? http://www.livingwithtris omy13.org |
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Dr Josephine Venn-Treloar, General Practitioner Welling, Kent DA16 2JZ, Dr Adrian Treloar
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Louise Locock and her co-authors have made a huge and welcome contribution to the debate around the care of children with severe disability diagnosed before birth. Two years ago, after a complex pregnancy, our daughter with Patau’s died, aged one week. We know of many couples who brought to birth babies who were known to have severe disability;- some died just before birth, others survived a short while. Even with medical predictions that babies would die before birth, we have seen beautiful children live for up to several years. In these cases the experience of bringing to birth, and cherishing as fully as possible the life if such little ones has been positive for both parents and siblings. It is a vastly better outcome than the routinely offered option of abortion. Although experiencing bereavement, they were spared the regret and trauma experienced by some of those we have met who had the baby aborted. Many of the couples we know experienced considerable pressure to abort. Even after making their wishes to continue the pregnancy clear, they report feeling the continued need to justify and argue for their decision. Being based upon a single case, perhaps Locock et al’s article could not describe the adequately the pressure put upon couples when clinical teams are reluctant to offer a positive option in such pregnancies. Antenatal screening is, as Brian Alderman suggests, "an opportunity to see the baby" and is, at times, done without proper consent. But early scans are funded to enable destruction of trisomic babies [1] and we find that parents often undergo these tests without knowing their real purpose. While the care we received was excellent, we must agree with the authors that clinical teams are unsure of how to approach couples who wish to keep their babies. Come what may, bringing such a child to birth and cherishing it until death, (though terribly sad), has been seen as a far better option by many of us who have had that experience. To witness, as we have, hundreds of people at the funerals of such children is a testament to the worth and joy of these short lives. As one consultant said to the mother of such a child "She's very beautiful-You taught me more than you'll ever know". Another couple have described seeing the their child laugh;- they had simply been told, "She won't recognise us or ever laugh" Bringing children to birth, when they are likely to die soon after, is a challenging journey. Good clinical care, support and understanding clinicians are absolutely vital. We sincerely hope that this article will help clinical staff to walk with couples along that journey. We will always be grateful to the care of a midwife who we met at a poignant point after delivery who said, among other things, "different lives have different lengths and their value is not determined by their length”. For us, the week that we spent with our little girl was priceless. [1] Josephine Venn-Treloar, Screening for Down’s syndrome BMJ, Jan 2002; 324: 110 Competing interests: None declared |
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