Birth

The baby may be born incredibly lethargic, and hypotonic (floppy, like a rag doll). They may have difficulty breathing and be difficult to wake/feed.

Day 2 – 3

Severe babies will find it difficult to breathe and may be placed on a ventilator.

Some parents will make the very difficult, courageous decision to withdraw care at this point. If your child is extubated more towards the 10-day mark, there is a chance your child may survive.

Day 10 – 14

Babies will typically go one of two ways.

1. They will begin to breathe over and above the ventilator, eventually being able to self-ventilate.
2. They may not come off the ventilator.

This is very difficult to time, we send you love.

After Two Weeks

Babies will be the best they possibly can be. Typically you will have a diagnosis at this point and should have started Sodium Benzoate + Dextromethorphan.

Your baby will eventually learn to suck and may be able to take some feeds orally. They may even be able to have the NG tube removed.

Two month vaccinations

Vaccinations can have an odd effect on our children. They can also be a catalyst for the Two Month Curse. If you can, delay vaccinations until your child is a bit older and stronger. There is no harm in delaying vaccinations.

Please note: some vaccinations use gelatine in live vaccines as a stabiliser to protect live viruses against the effects of temperature. Gelatine is high in glycine, and is likely to cause an adverse reaction. Additionally, some vaccines are noted to be adverse for those with encephalopathy (like NKH – also known as glycine encephalopathy).

We would recommend you research vaccinations and read the information pamphlet in detail before giving any vaccinations.

The start of Infantile Spasms
/The Two Month Curse

Around two months (sometimes earlier, sometimes later) the infantile spasms will start. Infantile spasms are seizures in infants, and 75% will show hypsarrhythmia. Hypsarrhythmia is a pattern shown via EEG that shows random or chaotic high-amplitude slow waves with intermixed multifocal spikes – this shows seizures, and shows abnormal brain function.

Often these kinds of seizures aren’t responsive to medication.  Please familiarise yourself with the no list (specifically: your child should not be given phenytoin or sodium valporate).

Occasionally a child will go into a seizure coma, and be on seizure medication infusions. You will be told there is nothing they can do for your child, and you may be referred to hospice. It’s a horrible time. Stay strong.

Things to note:

• If your child’s head isn’t repositioned regularly, they will develop a flat spot. This will become a problem later, so rotate your childs head every 15 – 20 minutes to stop plagiocephaly forming.

Two Month Curse Recovery

Despite all the doom and gloom of the doctors, there is a chance your child will recover from the Two Month Curse.

Seizures will be a regular thing, but can be managed. Hopefully, your child will recover from the seizure coma, wake up, and be able to go home.

At this point, if possible:

• Get regular physio sessions in (ideally weekly)
• Start neuroprotectant vitamins, if you haven’t already.
• Invest in a pulse oximeter that has alarms, that you can use as a seizure monitor overnight.
• Encourage your child to spend a lot of time on their belly – this will help prevent a flat spot from forming. Else, be sure to reposition their head regularly.

Five Months

If your child does have a flat spot, now is the time to get it checked out and sorted. Do not let your doctor tell you it is just cosmetic, as plagiocephaly (a flat spot) has quite simple to fix with a helmet if you need to. It’s important if your child does have a flat spot to get it taken care of, as it may impede head turning/rolling later down the line.

Six Months

Teething will become a thing relatively soon. Pain often brings on seizures, so be prepared with paracetamol and bonjela.

Around this time you will be inundated with therapy referrals. You should expect to be referred to services like: physio, occupational therapy, speech and language and dieticians/nutrionists.

Other things to start thinking about

• Your child may not be fixing or following (visually). If possible start patterning high contrast vision activities and vision patterning. You may also want to get an opthamologist to confirm Cortical Vision Impairment.
• You might want to start looking at scoliosis prevention. You could look at a sleep system, hipp helpers, a DMO Suit and/or happy straps to ensure proper hip positioning.
• Now might be a good time to start introducing objects of reference – these are objects that make a noise or have a particular shape/texture and are used to indicate a specific activity is about to start (for example, placing an object in the childs hand to indicate a nappy change is coming). Helpful for transitions and to build anticipation.

One Year

At this point a neurotypical child is beginning to stand and cruise. If your child doesn’t start weight bearing their hip sockets will not form and they will be at risk of hip dysplasia (which can be quite painful).

So, invest in a stander and have your child spend a lot of time in it (working up in 5 minute intervals to at least an hour a day). You may also want to look at investing in AFOs (ankle/foot orthotics) to help with ankle strength, which will stop your childs ankles from collapsing in as they weight bear.

Around this time (in the UK, a lot earlier the US) your child might be fitted with a gastrostomy to help with feeding and meds. If you have the capacity, it might be helpful to start exploring a blended diet. Some parents have had positive results with the Failsafe Diet – some NKH kids have quite severe reactions to colourings, msg, preservatives and antioxidants, amongst other things and removing these ingredients can be beneficial.

Two Years

You may begin to see signs of dystonia (where muscles contract uncontrollably, or twist involuntarily, causing odd repetitive movements or postures) or chorea (involuntary movements, that are very brief, abrupt and irregular).

You may also begin to see signs of additional salivation (drool) or notice your child sometimes has difficultly clearly secretions. This is a progression of the hypotonia. You may want to discuss with your nursing time about sourcing a suction machine.

If you notice that occasionally your child is having difficultly breathing (particularly when they have a cold, or have more mucus than usual) you might want to ask for a respiratory referral. A respiratory physio will work with you to build a plan to help manage. This might include daily nebulisers, chest percussion and suction. If you notice your child colour change while having a seizure, the respiratory team will also be able to help prescribe in home oxygen to help with recovery.

At this time you’ve probably settled into a therapy routine. If you are able, you might want to include additional therapies, such as hydrotherapy, hippotherapy, ABM/Movement therapy and/or CME.

Three Years

Without regular weight bearing, now is around the time you’ll see the beginnings of hip dysplasia and/or sublaxation. Dislocated hips can be incredibly painful, and the only treatment options are significant pain medication or surgery.

In the UK, around 3/4, your child is likely to be put forward for a special needs school/early years class. If you’re interested in this, start the ECHP process early.

Depending on how heavy your child is and how much support you need, now is typically the time you’d start looking at requesting:

• Hoists for your home, to help you move your child safely without damaging your back.
• A special bed, similar to a hospital bed, that allows the child to be propped up. It should also have lifted/lowering adjustments for carers.
• Optional: a bath changing table that can be lifted/lowered, as a safe space for incontinence and bath changing needs.

Life expectancy

Because there are so many different mutations and the spectrum is wide – there is no clear answer as to how long our children might live. Here are some difficult, very not firm, estimates from the literature:

• 80% of babies with NKH will not survive the neonatal phase.
• Most children with severe NKH are not expected to live past their fifth birthday.
• Most children with mild NKH are not expected to live to adulthood.
• There are a handful of people living with NKH who are over 21. They often have very very mild NKH and their particular experiences are very very rare.

Death

It’s likely you’ve never heard the phrase ‘quality of death’, but when you enter the world of palliative care, it’s something we strive for.  Most NKH children who have survived their neonatal period will have end of life care plans to help manage either a slow deterioration or an acute event.

A death by slow deterioration is likely to be respiratory in nature, after repeated chest infections which can take a toll on their health (especially considering their low tone). Children with NKH are likely to have immune vulnerabilities which mean infections are a risk.

NKH children are also at risk of SUDEP (Sudden Unexpected Death in Epilepsy). They’re also at risk of oxygen deprivation during a seizure.

This is very grim to read, but have hope. The doctors are not always right and repeatedly our children surprise us. Additionally, we are much closer to a cure than we’ve ever been before. Please donate towards NKH Research – the current bottleneck to our children’s health is funding.