Poop demons

Babies scare me, if I’m honest. There’s no way 10 billion neurons could genuinely be that cute and uncoordinated. I feel they’re hiding something. Kinda like how Jar Jar turns out to be a Sith Lord #spoileralert

However despite a wary respect for these tiny poop-demons (herein referred to as PD), as a medical student and doctor, people will shove their PD in front of you and ask whether it’s normal, and you’re expected to say something a little more informed than ‘ew no’.

literally every baby ever

Developmental milestones are something I found really tricky to learn, and so I wanted to devise a way of making the information more memorable. There are a lot of milestones and average ages of accomplishment, as well as ‘limit ages’, at which you’d start to pay attention if the child hasn’t started doing them yet. I reckon it’s not massively useful to learn each in isolation, since in reality you’re going to have to determine whether said PD is performing adequately in all departments. What I figured is most useful is to have a few ‘model babies’ at a few key ages, to keep in mind, and see if the kid in front of you is more or less skilful than the model. The best way to do this is to actually see real babies – I know, terrifying – to use as your comparison points. However if you don’t want to/are too scared/don’t like going outside, then the following descriptions might help anchor them in your mind a little better.

The story of the psychopath poop demons and their quest for world domination

Poop demon #1

PD1 is pretty useless to be honest. At a solid 6 weeks, he hasn’t exactly put much effort into doing much other than eating, pooping and screaming. He can’t do many evil things yet, so he spends his time trying to inconvenience you, and unsettle you with inappropriate eye contact.

  • He holds his head up – important for holding eye contact while pooping – it shows dominance
  • He follows objects visually – so he can continue to maintain this eye contact while you back away in fear
  • He smiles – to demonstrate his enjoyment of this socially awkward interaction

Please see this terrible video to get an idea of what I mean

Poop demon #2

PD2 is considerably more accomplished than baby number 1. At 6 months, he’s had some real experiences in life, and is now able to:

  • Sit upright, although a little slumped over – for vertical pooping
  • Grab things – to begin destroying the things you love
  • Put food in mouth – to fuel the pooping habit
  • Coo and babble – communicating to his overlord in demon-speak

Poop demon #3

PD3 has developed several new skills at the ripe old age of 12 months, including some murderous tendencies. This little horror story is what made her famous:

Baby number 3 unsteadily walks into the room, occasionally using pieces of furniture to keep her balance. In her pincer-like hands she’s gripping her trident, which she’s transferring from hand to hand while laughing like a maniac. She mutters a few words, but these are not the usual ‘mama’ and ‘dada’ that you’re used to hearing, these words sound evil…

She takes a menacing sip from her infamous sippy cup, and waves bye-bye before sending you to your doom.

These 12 month olds are infiltrating our society, ready to pounce. Do not trust them


Poop demon #4

PD4 is now 18 months old. He has grown out of his petty murdering phase and is now intent on world domination. He is massively aided by his ability to walk more steadily, and he has mastered the concept of making seemingly incoherent marks on a piece of paper with a crayon (actually demon writing). He can say a few more of your pitiful human words, and humours you by pointing at his nose when you ask him to, but ever since he gained the ability to feed himself with a spoon his need for power has become worryingly apparent, and he’s begun prepping his teddies for revolution.

Another laughably terrible video

The final Poop demon #5

At 2-3 years of age our PD is on the verge of taking over. However she’s realised she cannot do it alone, so she has begun collaborating with her fellow PDs, taking turns to act out their diabolical plans with dolls and bricks. Now that she can control when she poops during the day, she has much more time in the day for evil-doings, and is able to give commands using a few simple phrases. (usually ‘kneel to your overlord’). She’s been building towers out of six blocks and gleefully watching it crash to the ground.

Here is one of her evil co-conspirators in an elaborate distraction exercise, while she steals cookies from the cupboard:

Remember – they’re not as innocent as they look.

The milestones can be broken down into four main categories:

  1. Gross Motor
  2. Fine motor and Coordination
  3. Language and Verbal
  4. Socialising and Behaviour

Simple enough.

The tricky bit is remembering the average ages at which each bit of the development is achieved:

Gross motor:

  • newborn – limbs flexed, lying supine, with marked head lag on pulling up
  • 6-8 weeks – can lift head to 45 degrees when prone
  • 6-8 months – sits without support (6m rounded back, 8m straight back)
  • 8-9 months – crawling
  • 10 months – cruising around furniture
  • 12 months – walks unsteadily with a broad gait
  • 15 months – walks steadily

Fine motor and coordination:

  • 6 weeks – turns head to follow moving object
  • 4 months – reaches for toys
  • 4-6 months – palmar grasp
  • 7 months – transfers toys from one hand to another
  • 10 months – mature pincer grip
  • 16-18 months – makes marks on paper with pen/crayon
  • 14m – 4 years – Building towers
    • 18 months – 3 blocks
    • 2 years – 6 blocks
    • 2.5 years – 8 blocks/makes a train shape
    • 3 years – copies bridge
    • 4 years – copies stairs
  • 2-5 years – drawing (6m earlier if allowed to copy)
    • 2 years – line
    • 3 years – circle
    • 3.5 years – cross
    • 4 years – square
    • 5 years – triangle

Language and Verbal:

  • newborn – startles to loud noises
  • 3-4 months – coos and laughs
  • 7 months – turns to soft sounds
  • 7-10 months – first words/sounds to indicate parents
  • 12 months – 2-3 words other than mama/dada
  • 18 months – 6-10 words, can demonstrate 2 body parts
  • 20-24 months – simple phrases
  • 2.5-3 years – consistent 3-4 word sentences

Socialising and Behaviour:

  • 6 weeks – smiles responsively
  • 6-8 months – puts food in mouth
  • 10-12 months – waves bye-bye, plays peek-a-boo
  • 12 months – drinks from cup with two hands
  • 18 months – holds spoon and gets food safely to mouth
  • 18-24 months – mimics feeding pets/symbolic play
  • 2 years – dry by day, pulls off some clothing
  • 2.5-3 years – plays with others, takes turns

Then we have the so-called ‘limit ages’, when children should have achieved the given milestone:

Gross motor:

  • Head control – 4 months
  • Sits unsupported – 9 months
  • Stands independently – 12 months
  • Walks independently – 18 months

Fine motor and coordination:

  • Fixes and follows visually – 3 months
  • Reaches for objects – 6 months
  • Transfers – 9 months
  • Pincer grip – 12 months

Language and verbal:

  • Babbles – 7 months
  • Consonants babble – 10 months
  • 6 words with meaning – 18 months
  • Joins words – 2 years
  • 3-word sentences – 2.5 years

Social behaviour:

  • Smiles – 8 weeks
  • Fear of strangers – 10 months
  • Feeds self – 18 months
  • Symbolic play – 2-2.5 years
  • Interactive play – 3-3.5 years

Well done on getting this far, you’ve earned this

Stabbing the demon child

It’s important to follow a general principle of… not stabbing your child. It makes a mess and isn’t hugely conducive to producing viable offspring. However once in a while it becomes socially acceptable to stab your child with a very small needle. In fact it’s encouraged by medicine people with many consonants after their name.

It is also a good idea to learn to defend yourself against demon-children

Follow the following instructions to know when to stab them, and what with, in order to get away alive.

sometimes acceptable

Opportunity #1 – at birth

The first opportunity presents itself at birth, but only sometimes. If your child is at risk of TB, or is in a TB-endemic area, probably good to vaccinate them against TB.

Opportunity #2 – 8 weeks

The way I remember this is it’s 8 o’clock in the morning, and an evil demon-child walks in with a terrible cough, because he’s got pneumonia. To resolve this issue, you throw a ninja star at his face. Strangely enough this serves only to exacerbate this issue, so you take him by the hand to men’s room, and pull out a rotary saw and lop off one of his legs.


  • 8 weeks
    • Pneumococcus (PCV)
    • 5 pointed ninja star – 5-in-1
      • diphtheria
      • tetanus
      • polio
      • pertussis
      • Haemophilus influenzae B
                • I remember this by death by powerpoint
                  • d – diphtheria
                  • b – HiB
                  • p – polio
                  • p – pertussis
                  • t – tetanus
    • Men’s – Meningitis B
    • Rotavirus

Opportunity #3 – 12 weeks

You come back home at midnight from work to find the evil demon-child is back. He’s sat on the living room floor, which is really freaking you out. So you try another 2 ninja stars to the face and lop another one of his clawed demon-limbs off with the rotary saw, just to really teach him a lesson.

  • 12 weeks
    • 5-in-1 second shot
    • Rotavirus second shot

Opportunity #4 – 16 weeks

A month has passed, and your one-armed-and-legged demon child has returned, but somehow he’s managed to contract pneumonia again, so 3 ninja stars to the face in the men’s room to sort him out.

  • 16 weeks
    • PCV second shot
    • 5-in-1 third shot
    • Men B second shot

Opportunity #5 – 1 year

A year has passed and the demon-child has somehow managed to secure himself into a booster seat in the car. He’s singing merrily on the way to the MRI scan that you’ve booked because despite another trip to the men’s room, his pneumonia just isn’t going away. And you’ve figured you’re just as interested in finding out why he’s got the pneumonia as you are wanting to destroy the evil ghoul.

  • 1 year
    • Booster
      • HiB fourth dose
      • Men C second dose
    • MMR – tenuous link…
    • Men B third dose
    • PCV third dose

Opportunity #6 – 2-6 years

At some point between the ages of 2 and 6 your child has the flu. You decide to give him the flu vaccine. This is the only part of this whole saga that makes sense.

Opportunity #7 – 3 years and 4 months

You’re sat in the living room, watching 40 year old virgin, when once again the demon-child hobbles in. He’s never been the same since that MRI scan… probably didn’t help that he’d got a fork stuck up his nose…

  • 40 months
    • MMR second dose
    • 4-in-1 booster
      • polio
      • tetanus
      • diphtheria
      • pertussis

These are the ones that I struggled to remember. The full list of vaccines is given below. If you have suggestions about other ways to remember these vaccines, please stick ’em in the comments!

NHS vaccine schedule:

  • At birth:
    • TB in at-risk children
  • 8 weeks
    • 5-in-1
      • diphtheria
      • tetanus
      • whooping cough (pertussis)
      • polio
      • HiB
    • Pneumococcal PCV
    • Rotavirus
    • Meningitis B vaccine
  • 12 weeks
    • 5-in-1
    • Meningitis C vaccine
    • Rotavirus
  • 16 weeks
    • 5-in-1
    • Pneumococcal PCV
    • Meningitis B vaccine
  • 1 year
    • Hib/Men C booster
    • MMR
    • Pneumococcal PCV
    • Meningitis B vaccine
  • 2-6
    • Flu vaccine annually
  • 3 years and 4 months
    • MMR
    • 4-in-1 preschool booster
      • diphtheria
      • tetanus
      • whooping cough (pertussis)
      • polio
  • 12-13 year old girls
    • HPV
  • 14 years
    • 3-in-1 teenage booster
    • Meningitis ACWY
  • 65 and over
    • Flu every year
    • PCV
  • 70
    • shingles

Special groups:

  • Pregnant women
    • whooping cough
    • flu vaccine
  • Long-term conditions
    • flu vaccine
  • Hepatitis B
  • TB
  • Chickenpox vaccination

Travel vaccines:

  • Typhoid
  • Hepatitis A
  • Cholera


  • yellow fever

Yellow Babies

Sometimes you have to talk to people about their problems. The incidence of this occurring rises dramatically if you become a doctor.

One of these problems is the finding that after giving birth to a child, it starts to turn yellow. This is rather unsettling for parents, and sometimes cats, and so they may ask you about (the parents) about why it’s happening. Given more than half of babies go yellow, this conversation tends to come up a lot.

Here I’ve written my two cents on how to explain it to Mum, and then some of the sciencey stuff underneath.

The conversation

“Hi, my baby’s yellow, did I do something wrong?”

Hello, my name is medical student and I’m a medical student. I’ve been asked to come and sp….”

“..yeah but why’s my baby yellow?”

“Well, could you tell me what you know so far?”

“………the baby………..it’s yellow….”

1 – It’s probably fine

Drop in a statistic like 60% of babies go yellow after birth, and it’s absolutely normal, especially if they came along a little early. Even more so if you’re breast feeding them.

2 – Why do they go yellow

The yellow is called Jaundice and it’s caused by ‘bilirubin’. It’s a normal breakdown product of the blood that the baby uses while in the womb, which is broken down after it switches to what’s called ‘adult’ blood. Since baby’s liver isn’t quite warmed up yet, this bilirubin builds up in the body, giving the yellow tinge. If it gets really really high, it can cause damage to the brain, so it’s good to check the level and make sure it’s just normal baby jaundice.

3 – What if it’s really high

If the level is a bit high, we can use a special light that helps the liver to convert this bilirubin into the molecules that baby can then get rid of. Only 1 in 20 babies needs any treatment at all.

4 – When did it start?

If it started after a day or so, it’s much more likely to be this normal baby jaundice, however if it started much sooner, it may be that we need to give the liver a bit more help, and we’d like to check that there isn’t something else going on.

5 – What else could it be?

It could be that the baby’s making too much of this bilirubin, or that there’s something stopping it being broken down. Infection can do this, or if the baby is dehydrated. There are other rare things that it could be, which it is always good to rule out.

6 – How’s their poop?

If their poop is pale and the urine very dark, then it gives us an idea as to where the problem might be, and how to fix it. Also ask about any other symptoms (irritability, incessant crying, poor feeding)

7- Anything run in the family?

Family history may suggest a pattern that we can start treating early.

8 – Any other concerns?

“Is it cancer?/Did I do something wrong?/Is it going to go back to normal colour?” All of these you can knock out the park with all that rapport and clinical acumen that you have.

Key points:

When did it start?

– Are they breast feeding?

– Any other symptoms?

– How’s their poo?

– Urine?

– Any change in behaviour?

– Full term or premature?

– Was mum on any antibiotics?

– How was delivery?

– Any problems after birth?

– Mum’s blood group?

– Family history of jaundice, or metabolic conditions?

– Patient concerns?

– Summarise

– Offer a plan and a follow up? (Usually – We’ll test the blood and see if we need to help the liver out, which most likely we won’t need to, and then if it doesn’t go away after a few days come back and we can have another look…)

The science

Jaundice – or icterus – describes a yellowing of the skin caused by the build up of bilirubin.

Usually – <25 micromol/L

Bad – >50 micromol/L

Neonatal jaundice is normal after around 24 hours until around 2 weeks. This occurs for three reasons:

You can’t ignore neonatal jaundice, though, as it could be due to:

  • haemolytic anaemia
  • infection
  • liver disease
  • metabolic disease

and severe build up of unconjugated bilirubin in the brain can cause kernicterus, especially in the basal ganglia

Bilirubin is fat-soluble, so it can cross the BBB and lead to kernicterus (encephalopathy)

If the amount of bilirubin exceeds the ability of albumin to bind it, then it can build up in the basal ganglia and brainstem nuclei


  • lethargy
  • poor feeding
  • irritability
  • increased muscle tone – baby lies with arched back (opisthotonos)(67 points in scrabble)
  • seizures
  • coma

Kid’s that survive kernicterus can have

  • choreoathetoid cerebral palsy
  • sensorineural deafness
  • learning difficulties

An interesting aside: Kernicterus used to cause a lot of brain damage in kids with really bad rhesus haemolytic disease, but since the introduction of anti-D immunoglobulin for rhesus-negative mothers, there’s not a whole lot of it around…

So that’s why we care about it – but how do you go about investigating a yellow baby?

1 – when did it start?

General rule – after 24 hours = fine, before = bad

Bad is the technical term

90% of the time it’s totes fine

yeah your liver should probably pick up its game a little

If jaundice has kicked in within 24 hours, it’s likely there’s a haemolytic process afoot. This is important to spot as it can get a lot worse very quickly:

  • Rhesus haemolytic disease – usually picked up antenatally
    • may have anaemia, hydrops and hepatosplenomegaly
  • ABO incompatibility – more common that RHD, most ABO antibodies are IgM and don’t cross the placenta, but some women that are group O have IgG anti-A antibodies, than can react with the babies cells.
    • do Coombs’ test to check
  • G6PD deficiency – mainly in people from the Middle-east and Mediterranean (also Africans and Far East)
    • important to give parents information on drugs to avoid
  • Spherocytosis – much less common, usually a family history
    • Check the blood film
  • Congenital infection – usually have other signs such as
    • hepatosplenomegaly
    • thrombocytopenic purpura
    • growth restriction
    • remember it’s a conjugated hyperbilirubinaemia

If the jaundice is after 24 hours and up to 2 weeks, then this is most likely the physiological jaundice described above. The way I remember these ones is the noise the minion makes when it’s got that stupid light on it’s head in Despicable Me 2 “BIIDOOO BIIDOO”

  • Breast milk jaundice – thought to be protective as an antioxidant
  • Infection – unconjugated due to haemolysis and poor fluid intake – think UTI
  • Dehydration – may need IV fluids
  • Other – Bruising, polycythaemia and rare stuff like Crigler-Najjar 

2 – how bad is it?

Testing the jaundice is a logical next step – you can do it:

  • clinically
    • how much yellow are we talking?
  • blood test

3 – how fast is it building?

Like a sinking yellow ship it’s nice to know how bad the situation is, and how quickly it’s getting worse. Usually the level rises in a linear fashion, so keep these plotted on a chart somewhere so you’re not caught by surprise.

4 – what drugs are they on?

If you’ve given a newborn a sulphonamide or diazepam then these can displace bilirubin from albumin and make the jaundice worse. Don’t give these to a newborn. It’s silly.

So what to do?

There are 3 key things to do with a yellow child, after you’ve checked it isn’t an unfortunate highlighter incident:

  • Keep the kid hydrated and fed
  • Phototherapy
  • Exchange transfusion

The mainly used one is phototherapy, where 450nm light is used to convert bilirubin into different isomeric configurations that are water soluble. In exchange transfusion the baby’s blood is swapped bit-by-bit with donor blood. We don’t know at what level kernicterus becomes inevitable, so basically keep it as low as possible.

It won’t stop! – jaundice beyond 2 weeks

Persistent/prolonged jaundice might be due to biliary atresia, which is the main concern, but it is usually an unconjugated hyperbilirubinaemia due to:

  • Breast milk jaundice (may last up to 5 weeks)
  • Infection
  • Congenital hypothyroidism – should be picked up on the Guthrie test.

How do I know it’s conjugated?

Dark pee, pale poo.

Also hepatomegaly and poor weight gain.

Christmas Chunderbaby

Today we hear the tale of Christmas Chunderbaby and his quest for the magic Oasis of Death.

Christmas Chunderbaby is a few weeks old, but because he is magic he can already walk and make calculated decisions for himself.

Christmas Chunderbaby is in search of the magical Oasis of Death, in the hope that drinking from it will give the imbiber eternal life, despite its name. He has with him but a solitary sledge, that trails devotedly in his wake, upon which sits an enormous, pulsating pile of glistening purple flesh – for Chunderbaby’s liver and spleen are simply too large to carry around within his delicate frame.

On the way through the desert to the Oasis, Christmas Chunderbaby stops for a moment, as he feels the need to cough violently, after which he is compelled to perform his characteristic party-trick of projectile vomiting green and red streamers all over the sand.

As he vomits, he notices his belly beginning to swell, and becoming ever so painful to touch. He believes it is just a need to go to the toilet, and so he poops on the floor, surprised by the fact that it, too is bright red.

Finally he has a seizure as his head begins to swell up and he perishes, just moments from reaching the thirst-quenching Oasis.

Red Flag features of vomiting in a child

  • Bile stained vomit
        • intestinal obstruction
  • Haematemesis
        • peptic ulcer, oesophagitis, oral/nasal bleeding
  • Projectile vomiting in first few weeks of life
        • pyloric stenosis
  • Vomiting after coughing
        • pertussis (whooping cough)
  • Tenderness
        • surgical abdomen
  • Distension
        • obstruction/hernia
  • Hepatosplenomegaly
        • chronic liver disease
  • Blood in the stool
        • intussusception, gastroenteritis
  • Dehydration/shock
        • severe gastroenteritis, systemic infection, DKA
  • Bulging fontanelle/seizures
        • raised intracranial pressure
  • Failure to thrive
        • GORD, coeliac disease, chronic gastrointestinal condition

Cerebral Palsy

“A group of permanent disorders of the development of movement and posture causing activity limitation that are attributed to non-progressive disturbances of the foetal or infant brain”

Here I’ve mocked up a fake case history for the ‘typical’ cerebral palsy patient, which is how I remember the key features:

Charlie Babinski and his twin brother were born on the 2nd of November 2000 at 28 weeks gestation. He weighed 1499g, and his brother was a much bigger 2300g.

  • Babinski – often have persistent primitive reflexes
  • More common in multiple births
  • 2.11/1000 live births affected
  • Much higher incidence below 28 weeks
  • Much higher incidence below 1500g
  • Associated with IUGR, and CP patients usually small as their bones aren’t able to grow to their full potential

During the pregnancy, he’d suffered many infections, including toxoplasmosis and rubella. His mother had also been ill, and had very high blood pressure, for which she took ACE inhibitors. During the pregnancy she was involved in a plane crash, which she survived, but at the reassurance scan they noticed congenital abnormalities.

  • Antenatal causes of cerebral palsy:
    • infection
      • toxoplasmosis
      • rubella
    • maternal illness
    • teratogenic insult
    • abdominal trauma
    • plane – flight – DVT risk – coagulopathy
    • congenital malformations

At the time of his birth, he had got stuck during the delivery for several minutes, and suffered severe hypoxia as a result. He was then delivered forcefully with forceps and was very floppy when he was delivered. Because he was bright yellow, they did a scan and found he had significant intraventricular haemorrhage and periventricular leukomalacia.

  • Intrapartum/neonatal causes:
    • hypoxia
    • trauma
    • hyperbilirubinaemia – kernicterus
    • intraventricular haemorrhage
    • periventricular leukomalacia
  • children with CP may be hypo or hypertonic depending on the severity and location of the insult

Charlie is now a very happy child, and whizzes around at high speed in his four-wheeled electronic wheelchair. His eyesight isn’t very good and his joints are stiff so he regularly crashes into things. Sometimes these crashes trigger him to have a seizure, but his muscles are very short and stiff so he doesn’t move much when they occur, and he doesn’t ever talk about them. He gets very upset when his brother tip-toes past him with a pair of scissors and snips his homework into little pieces.

  • Mobilises with electronic wheelchair – Gross Motor Function Classification System (GMFCS)
    • level 4 impairment
  • Associated impairments:
    • emotional disturbances
    • poor vision
    • seizures
    • poor communication
  • Secondary motor impairments:
    • muscle shortening
    • arthritis
  • Tip-toes – toe walking seen in CP patients as they have very short calves
  • Scissors – ‘scissor legs’ seen due to shortened adductors
  • Learning difficulties

Charlie comes to see you for help. You decide to manage his condition in two stages; Temporarily, and Permanently.

Permanent management requires you to call the neurosurgeons, and in the meantime, you’d like to control his seizures, reduce his urinary incontinence and relax his stiff muscles. To do so you give him some oral medications and then tell him to take off his shoes and lie down on his front. You then give him a massage from his head, down his spine, to his toes, and insert a needle into his spine, which gets him all in a tizz.

  • Managment:
    • Temporary
      • Oral
        • Anticonvulsants
        • Antimuscarinics
        • Muscle relaxants
          • central – benzodiazepines
          • spinal – baclofen/tizamidine
          • peripheral – dantrolene
      • Intrathecal
        • baclofen
      • Orthotics
    • Permanent
      • Neurosurgery
      • Selective dorzal rhizotomy
      • Deep brain stimulation
      • Orthopaedic surgery

Explaining Cystic Fibrosis

Cystic Fibrosis is a common explaining station in OSCEs, so I’ve put together some things to say about it to parents/lay people/bus drivers who may be interested.

1. Introduction

As always:

  • Wash hands
  • Introduce yourself
  • Explain why you’re there
  • Check you’ve got the right patient
  • Check they’re happy to talk to you

2. What do they know?   (See OSCE communication checklist top 5 post)

  • Ask what they understand so far
  • Ask what particular concerns they have
  • Make sure you know what they want from the consultation

3. Answering specific questions:

  • What is it?

Cystic Fibrosis or CF is a genetic condition, where the body isn’t able to make the secretions it makes watery enough. This means that any body part that makes these secretions, such as the lungs, the pancreas and the intestines can run into trouble with thick, sticky mucus. This is why people with CF often have recurrent chest infections, and tummy problems.

  • How common is it?

In short, not very. Around 1 in 2500 people are affected. Because you receive a copy of DNA from your mum, and a copy from your dad, both of these copies have to be defective for CF to occur. This means your parents are both ‘carriers’ – they have one defective gene, but they don’t have symptoms because the other copy is working fine. Approximately 1 in every 25 people is one of these ‘carriers’ of the defective gene.

*Here I would draw a diagram about recessive inheritence*

When two people conceive a child, that child receives one of the mother’s genes, at random, and one of the father’s. This means that there are four possible combinations for this gene – Fine/Fine, Fine/defective, defective/Fine, and defective/defective. CF occurs when both are defective, so there is a 25% chance that two carrier parents will have a child with CF.

  • What are the symptoms?

Usually CF is picked up quite early on, as the baby will have recurrent chest infections, and they may struggle to put on weight as well. They may also be wheezy or short of breath, and have diarrhoea. It is usually detected as part of a screening programme for all babies, though, called the heel prick test. We also have a ‘sweat test’ and genetic tests available to diagnose the condition in older children.

  • Could I have prevented it?

There was no way without both you and your partner being specifically genetically tested that you could have known you had the genes, and even then there was only a 25% that your child was affected. There was nothing that you could have done to make it more or less likely.

  • Is there a cure?

Currently there is no cure for the condition, so the main focus is on dealing with the problems that may arise. This includes using antibiotics to prevent chest infections, medicines to help open up the airways and shift the sticky mucus, and providing dietary advice and nutritional supplements to help their growth and development.

  • Is it going to kill my child?

The problem with the sticky mucus and the repeated infections is that it takes its toll on the lungs, and they become progressively more damaged over time, making CF a progressive condition. Currently the only treatment for this that we have is a lung transplant. Currently the life expectancy for people with CF is that over half will live beyond 40, however we anticipate that those children born with it now will live longer than this.

  • What can I do to help?

Ensuring your child eats well and does regular exercise is the best thing you can do, as they will need more calories and the exercise will help shift the mucus. Making sure nobody in the home is smoking, and generally reducing exposure to pollution and smoke will help reduce infections, as will making sure people at home are washing their hands regularly.

  • How can I prevent another child from having it?

Since you have had one child with CF, we know both you and your partner are carriers. This means any future child also has a 1/4 chance of the condition, however new techniques such as IVF allow us to select embryos that are not affected. Clearly that’s another conversation to have on another day, but there are certainly options.

  • Where can I get more information?

I’ll get you a leaflet with all the things we’ve discussed, and it also has some useful websites and contact information should you like more information. There are huge amounts of information online, as well as support groups including the Cystic Fibrosis Trust so it’s definitely worth looking it up, and if you have any other questions do feel free to get in contact with us again and we’d be happy to help. 

4. Wrap it up

Make sure you end by checking the person’s understanding:

“Before we finish, can I just check that I’ve explained it properly? Could you tell me the main points of what we’ve discussed?”

“Have I answered your questions? Please feel free to ask more”

5. Thank your patient and wash your hands


Here’s a story to help remember some of the details of intussusception. Remember to try and really picture this event, in your garden. If you can use children that you’ve seen or know, it will help make the story stick better. If you can make it even more ridiculous than I have, then go for it – the weirder the better!

Two boys and a girl are playing in the garden at a family barbecue. The boys are 6 months and 18 months old, and the girl is 12 months old.

  • Typically affects children between 6 and 18 months
  • Boys are twice as affected as girls

They’re all dancing, and doing a special dance where they have to jump as high as they can, and bring their knees up to their chest. As they’re doing this, they all turn completely white and start rolling around on the floor complaining of pain in their abdomen.

  • Child complains of abdominal pain
  • Often characteristically draws knees up to chest
  • Pale
  • Characteristic ‘Dance’s Sign’

One of the boys then does a poo. Unfortunately all he’s been eating is jelly, so he blasts jelly all over the other two. They both vomit, but since they’ve just been eating sausages from the barbecue, there’s now jelly and sausages all over the garden.

  • Vomiting
  • Blood-stained faeces (like jelly)
  • Sausage like mass palpable in the lower right quadrant

The children then all start screaming, but they’re screaming at such a high pitch that it’s causing all the windows to smash, so you then have to go on a trip to Target to buy replacements.

  • Ultrasound is the primary imaging modality
  • Characteristic ‘target’ sign seen

The Background

Intussusception is a medical emergency in which part of the bowel collapses into the adjacent part like a telescope (or extendable selfie-stick for those born after 1994). It can lead to obstruction and perforation, and then sepsis and shock.

The reason it’s dangerous is because the segment of bowel that is drawn in can have its blood supply cut off, and become necrotic and then perforate. The ischaemic bowel loses its mucosa into the bowel lumen, and this forms the characteristic ‘red jelly’. In reality, any type of blood in the stool should have intussusception on the differential diagnosis, especially if the child is between 6 and 18 months.


A variety of things can cause intussusception, although how it is that they do it isn’t well understood. It is thought that enlarged lymphoid tissue after an infection may play a role, and this would also explain why intussusception is relatively rare in the first three months of life, while the infant is still protected by passive immunity.

The different types include:

  • ileocolic (90%)
  • ileoileocolic (less common)
  • ileoileal (rare)
  • colocolic (rare)


The diagnosis is made based on:

  • clinical examination
    • PR exam can be very helpful in children
  • history
  • Dance’s sign
    • emptiness in the lower right quadrant
    • sausage shape in right upper quadrant
  • Ultra-sound Scan
    • diagnostic imaging modality of choice
    • gives a characteristic target shape

If you google intussusception you get some awesome radiographs

I can’t put any on here because I don’t own them

sad face

Neonatal Hypoglycaemia risk

Some babies are at risk of hypoglycaemia. The following story should help you to remember the relevant risk factors!

It’s really early in the morning, and two babies wake up to find their mum collapsed on the floor. 

One baby is really small and the other is fecking massive. 

The mother has collapsed because she’s in DKA. 

She’s banged her head on the way down and there’s a lot of blood on the floor. 

Big baby thinks to slow the heart down to stop the bleeding and gives her beta blockers. 

The little baby doesn’t respond for 5 mins, and even then is hardly speaking. 

In fact all he does is pull a silly face and poo all over the floor.

  • preterm
  • low birthweight
  • large birthweight
  • diabetic mother
  • polycythaemia
  • mother on beta-blockers
  • APGAR <7 in first 5 mins
  • dismorphic face – suspected inborn error of metabolism