Seizures are an early warning sign of rare diseases
While generally uncommon, seizures are a symptom of worse to come, giving us time to assess the baby’s health. Both curable diseases like encephalitis and rare conditions like Dravet syndrome can cause different types of seizures, and it’s our duty as parents to learn to distinguish them. Rare diseases in India are still being overlooked, crucial red flags might be missed during diagnosis while addressing only the surface issues instead of digging deeper. To combat this, we’ve made a list of warning signs to focus on if spotted – it could be the difference between life and death!
What do we need from our doctors?
We need our caretakers to listen, know, and diagnose. Parental instincts are a superpower –we know when kids are sick before they even do!
Good practitioners trust these instincts, after all, our goals are the same. However, some hospitals across India lack the means to diagnose rare diseases. In the west, procedures like Newborn Screening are accessible, commonplace and often mandatory, but we aren’t there yet. The severity and frequency of rare diseases are only just being recognized, so preparing a case for our concerns can help practitioners immensely.
What should I be looking for?
A seizure is a type of spasm or shake caused by the brain trying to activate multiple muscles at once. Babies don’t know how to control their muscles yet, so infant seizures look very different from adult ones. Let’s look at the physical features of 10 different types of seizures and their possible causes:
1. Febrile seizures: “It’s too hot, let me make things worse!”
These are the most common. “Febrile” means “related to fever”, so this type of seizure happens when babies run a temperature of over 101°F. These commonly occur before 18 months, though 1 in every 25 children will have at least one febrile seizure in their lifetime.
Any disease from germs or genetics causing high fevers puts infants at risk of these. Contacting your paediatrician is very necessary, but look out for any other symptoms, like strange odours, odd coloured stool or vomit, etc.
2. Subtle seizures: “Gaslighting parents since 1768”
These are the hardest ones to spot. In adults, seizures can be spotted by a sudden pause in moving or talking and subsequent convulsing. Babies unfortunately can’t move or talk. Subtle seizures hence present very silently – the babies will lie still and look off into the distance. They may make sucking or smacking sounds, show jittery limb movements and have rapid eye motions. These seizures are quick, lasting only a few seconds, but they are painful and leave the babies confused.
Subtle seizures may not show up in a brainwave scan, but they are a definite sign of underlying neurological or brain problems. These may be physical problems such as brain trauma, a stroke or a clot, or they might be an indication of inborn issues like developmental difficulties, genetic disorders and metabolic disorders.
3. Tonic seizures: “Let’s tone those muscles – no not like that!”
We go to the gym to tone our muscles, giving them a rigid shape – this seizure gets its name from a similar stiffening effect. During such seizures, an infant’s muscles suddenly stiffen and lock up, their eyes roll back and their breathing becomes irregular. The arms and legs will jerkily assume a fixed position at either side of the baby.
These seizures are not normal and signify a metabolic deficiency. This means the muscles lack nutrients like calcium or sodium either due to a poor diet, or because the body can’t utilise the nutrients properly. If you’re sure your baby is eating enough salt, then it’s definitely an uptake issue and a rare disease panel is necessary.
4. Atonic seizure: “Now let’s relax our muscles – no not like that either!”
Just the opposite of tonic seizures, atonic seizures cause muscles to lose shape and go limp. This can affect either the whole body or be localized to the head or legs. This can cause babies to suddenly fall or their heads to slump, making them prone to accidents. These injuries can lead to further trauma.
The causes of atonic seizures are often unknown but they may be early indicators of chronic epilepsy. Staying vigilant for other strange symptoms can help pinpoint specific disorders.
5. Clonic seizures: “Now follow the rhythm – oh dear”
Clonic seizures in infants involve rhythmic, jerking movements of the muscles. The baby may mirror repetitive cycling or slapping movements on one or both sides of the body. These look like classic seizures and are the easiest to recognize. These can last for several minutes and tend to be painful.
These are often due to a missing neurotransmitter (the chemicals that help transport brain signals), or any substance that affects the nervous system, like drugs. Certain genetic disorders, such as Hypotonia or AADC, limit neurotransmitter production from birth. These conditions can be identified early if you know what to look for!
6. Myoclonic seizures “It’s like being tickled by your own muscles!”
Myoclonic seizures in infants involve sudden, brief jerks or twitches of the muscles. These movements are quick and localized to small clusters of muscles. These are usually due to vitamin deficiencies, but they can also result from a vitamin uptake disorder, which can be confirmed with a simple blood test. While quick and not very threatening, these seizures can be startling. Comforting your child after these is always a good idea, no matter the severity.
7. Infantile seizures or west syndrome
West syndrome, also known as infantile spasms, is a severe epilepsy disorder that is characterized by a “jackknife” pattern of sudden, brief muscle spasms in the head, neck and arms upon waking. This affects children between 3 to 12 months old. This is a very unique set of symptoms that also presents characteristically on a brainwave scan. Thankfully, therapies to improve quality of life are available for this disease.
8. Fifth day fits: “Oh, funny story”
Fifth day fits often occur within a family, passed down genetically to newborns and as a funny story to newlyweds. You might hear about your brother-in-law’s sudden seizure on his fifth day after birth, but then he was fine after burping.
While stories like this may seem shocking, fifth day fits are a recognized medical condition. These are a type of benign seizure that typically occur around the fifth day of life. They do not cause lasting harm, or even repeat beyond more than once, but it’s still best to consult a doctor to make sure it was a fit and not something else.
9. Low blood level seizures: “The muscles are hungry, let’s make things worse!”
These seizures are usually caused by metabolic imbalances, such as low blood sugar (hypoglycemia) or low calcium levels (hypocalcemia), which can affect newborns as their bodies adjust to life outside the womb. These often go away after babies get accustomed to feeding and sleeping, but prolonged seizures can cause lasting brain damage.
10. Tremors
These aren’t seizures exactly, but these are caused by various factors such as head injuries, early signs of Multiple Sclerosis, hunger, liver problems, stroke, thyroid problems, side effects or withdrawal effects from certain drugs, or genetic reasons. They might even be completely benign!
Being parents is difficult, but this is precisely the type of symptom we must trust our instincts on..
What happens after I find out?
Contact your doctor, and us!
We are doing our best to bring Newborn Screening and other neonatal technology to hospitals around India, starting with the Delhi-NCR area. If your paediatrician does not have access to the tools needed to check for rare diseases in your infant, put them in touch with us. It’s our mission, and we are glad to help.
Depending on the symptoms and the suspected disease, the doctor may order either a Newborn Screening Panel or an NGS test, within a few weeks of which you’ll have a sure answer about your child’s health.
Tell us in the comments what symptoms matched your child?
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