Week 6 PCL: Pauline gets clucky!
After much dismay, and www.dictionary.com refusing to acknowledge the word clucky (and ever so faithfully checking with the mja before google), google has once again saved us, and helped define clucky, using such fun phrases as 'baby-fever'. Natalfebrility? lol -- what Greek is that Vik?
Anyone have a fact sheet on CF from the last disability unit?
Questions about genetic testing, again?
I'll find some diagnostic stuff.
And for those doctors who know not just about anatomy, but also of the heart: how would we all feel if we learnt our child had CF?
Much love and sleep.
Tim
Part A
Over the past year Pauline had taken to looking at babies as they sat in their strollers in supermarkets. She even found herself reading articles in magazines on the advantages of breastfeeding and what were the current popular names for babies. She admitted to her partner Matthew that she was starting to feel quite ‘clucky’.
As soon as she had made this admission they both realized that having a baby was the next logical step. They had paid quite a large deposit on their new home and calculated they could easily manage on one salary for a year or so, even with the mortgage payments. They were young and very happy together. It seemed the right time to think about starting a family. There was, however, one problem.
Pauline’s brother Tim, and his wife Tracey, had a lovely six-month old baby. While the little girl, Sheridan, appeared alert and healthy, newborn screening had diagnosed her as having cystic fibrosis. Neither Pauline nor Matthew knew anything about this condition. They didn’t like to ask questions of Tim and Tracey because they both seemed reluctant to talk about it. The baby appeared so healthy it was as if the parents refused to believe there was anything wrong with her.
Pauline and Matthew decided to find out as much as they could about the condition and, most importantly, what the likelihood might be of any child of theirs being born with cystic fibrosis. They made an appointment to see their local doctor and, in the meantime, Pauline continued to take the contraceptive pill.
Pauline and Matthew arrived at Dr Clarke’s surgery armed with a list of questions. Pauline said that while she and Matthew were now very keen to start a family, they were seeking reassurance that any child they might have would not be born with the same condition as that suffered by their niece.
“First of all, what is cystic fibrosis?” said Matthew. “Sheridan looks perfectly healthy to us!”
Anyone have a fact sheet on CF from the last disability unit?
Questions about genetic testing, again?
I'll find some diagnostic stuff.
And for those doctors who know not just about anatomy, but also of the heart: how would we all feel if we learnt our child had CF?
Much love and sleep.
Tim
Part A
Over the past year Pauline had taken to looking at babies as they sat in their strollers in supermarkets. She even found herself reading articles in magazines on the advantages of breastfeeding and what were the current popular names for babies. She admitted to her partner Matthew that she was starting to feel quite ‘clucky’.
As soon as she had made this admission they both realized that having a baby was the next logical step. They had paid quite a large deposit on their new home and calculated they could easily manage on one salary for a year or so, even with the mortgage payments. They were young and very happy together. It seemed the right time to think about starting a family. There was, however, one problem.
Pauline’s brother Tim, and his wife Tracey, had a lovely six-month old baby. While the little girl, Sheridan, appeared alert and healthy, newborn screening had diagnosed her as having cystic fibrosis. Neither Pauline nor Matthew knew anything about this condition. They didn’t like to ask questions of Tim and Tracey because they both seemed reluctant to talk about it. The baby appeared so healthy it was as if the parents refused to believe there was anything wrong with her.
Pauline and Matthew decided to find out as much as they could about the condition and, most importantly, what the likelihood might be of any child of theirs being born with cystic fibrosis. They made an appointment to see their local doctor and, in the meantime, Pauline continued to take the contraceptive pill.
Pauline and Matthew arrived at Dr Clarke’s surgery armed with a list of questions. Pauline said that while she and Matthew were now very keen to start a family, they were seeking reassurance that any child they might have would not be born with the same condition as that suffered by their niece.
“First of all, what is cystic fibrosis?” said Matthew. “Sheridan looks perfectly healthy to us!”

1 Comments:
Diagnosis of Cystic Fibrosis
New Born Screening
All babies are tested with a hell-prick test for many serious but rare illnesses. These are generally not visible to even extremely well trained and experienced paediatricians.
It not compulsory, but is generally performed. Consent is required.
One in 2500 children are affected by CF, but the test tests for PKU (unable to break down phenylalanine, the fun stuff that makes diet coke sweet, and makes holes in babies’ brains), congenital hypothyroidism and other metabolic conditions.
The heel-prick test
The test is done between 48-72 hours, and involves a few drops of blood being placed on a card (sounds similar to testing blood sugar levels in diabetic patients), where it is then sent to the lab for studying. Testing positive to any CF markers will result in a DNA test (around 1.5% of all babies get a DNA test).
If any abnormalities are noticed, a second test is performed, and parents are counselled and await the results of an independent test.
The ‘Standard’ Symptoms
Persistent diarrhoea, foul-smelling bulky greasy stools, malnutrition, lack of appetite, vitamin deficiency, slow development/growth (‘failure to thrive’)
The sweat test
A special chemical is placed on the baby’s skin, causing the baby to sweat. Sweat is collected over a period of 30-60 mins and then analysed for raised sodium and chloride levels. 2 or more abnormal results are required for diagnosis.
Trypsin: the test
If a baby has persistent CF symptoms, a trypsin test may be ordered. Normal stool samples contain trypsin and chymotrypsin, but reduced pancreatic function, often as a result of CF, may cause the stool sample to test negative to trypsin.
Nasal Potential Difference
As CF affects transport of salts across membranes, measuring the potential difference between nostrils can be indicative of whether or not a patient has CF.
Genetic Testing
DNA from cheek cells can be used to identify mutations of CF causing genes.
http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html#diagnosissymptoms
http://www.genetichealthvic.net.au/pages/diagnosis/newbornscreen.html
http://cfcenter.stanford.edu/DiagnosticTesting.html
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timfazio, at 12:13 am
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