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Not So Frequently Asked Questions.

Why didn’t anyone pick this up in pregnancy? NKH is so rare that no tests are done for it. It is not part of any newborn screening program and you wont find it in a blood or urine screen unless you are specifically looking for raised amino acids. Even then, those results will only suggest further tests are needed to rule out several possible conditions. Some kids are diagnosed within days of being born, some not until after they have died and others have gone over decades with no name for their symptoms.

Did you know something wasn’t right when you were pregnant? Hell yes, but I couldn’t say what as it was so non specific that I never even mentioned it to my husband or Mum. They knew I wasn’t feeling confident about this pregnancy but that as it. I just felt dread and doom from the minute I saw a positive line on the pee stick.

When did you think something was wrong? Apart from the awful nagging feeling that my baby wasn’t going to survive that I had all pregnancy it was before I had even been sewn up from my c-section. Alice came out of me asleep and stayed that way. She opened her eyes briefly and went back to sleep. I was asking the surgeon why she wasn’t crying as he was putting my uterus back in place. That was the first of many many times I was told she was fine and I had nothing to worry about.

Why doesn’t George have it? George may well be a carrier, we don’t know. But you have to get the “broken” gene from both parents to have the physical condition of NKH. As half my eggs carry it and half Gregs sperm carry it, there is a 50% chance any child we have will carry it and a 25% chance any child will have full blown NKH and a 25% chance they wont even carry either shitty gene. George will be tested when he is 16.

Did you and Greg know you carried this before you had kids?Nope absolutely not. Its so rare and almost all doctors have never even heard of it. If they have heard of it, they’ve never actually seen a real live case of it. In theory both my sisters could carry it and either my Mum or my Dad does. Everybody carries genetic defects. You could carry NKH, but unless you are unlucky enough to marry someone else who carries it and then have the 1 in 4 child of yours that has NKH then you would never know.

What happens if you want more kids? For us that decision is easy. I was 39 when I had Alice and they tied my tubes when they took her out. I only wanted 2 kids and regardless of how long Alice lives, Ive had my two children. However, if we were younger and wanted more they can now look for it in any future pregnancies. We have had Alices DNA tested and they found the exact mutations causing her condition, so they would them look for them in a new baby. Sadly that can only be done much like a Downs Syndrome test at approx. 11 to 14 weeks (sometimes later depending on if they get a good amount of fluid to test) and then you are left with the choices of terminating a pretty well formed baby or carrying to full term and either letting it pass by not intervening, or intervening with life support and having another severely disabled child. Amnio testing is also well documented to be a risk of terminating the pregnancy. Selective IVF is occasionally offered to NKH parents.

How did you feel about knowing your child might die?

Not how I expected. I knew Alice was desperately sick from the moment I saw her, so despite no one believing me, I had prepared myself for this for a long time. During the pregnancy I never felt she would stay with us long after she was born and these fears were compounded as soon as I held her. As such I formed absolutely no bond with Alice at all. Zero. I had heard all these stories about Mums who don’t bond and having experienced the text book rush of unconditional love on seeing my son for the first time, I was astounded that I could hold another child of mine and literally feel nothing other than “Oh it’s a baby, I guess I should look after it”. Not bonding is weird to say the least. Your baby could quite literally be anyones. You feed it, you wash it and you clean it but its just there. Note I say “it”. Even that resonates as to just how disconnected I was.

So you need to understand that when we were told Alice would not survive and her condition was terminal I was, horribly matter of fact about it all. Yes I screamed, yes I cried, yes I was numb and shell-shocked and all those things, but an inner voice told me it was OK because we knew this was going to happen. If anything I remember actually feeling some sort of relief because it confirmed I wasn’t paranoid or over reacting and I didn’t have Post Natal Depression as Id been told consistently for 3 months. I think I just felt, it was inevitable that she’d die and Id deal with it when it happened.

How did you feel about knowing, if she’d survive she’d be profoundly disabled?

Prior to Alice I had always pitied families with disabled kids. They were always angry and campaigning and shouting and demanding. They always looked so fucking miserable too, so I certainly didn’t want to be “that family”. But not so much because of the disability, I just didn’t want to be the moaning disability advocate. And yet here I am!!!

In terms of Alice being disabled, mine and Gregs views at this stage were extremely naive, which was probably a good thing. We just thought she’d be in a wheelchair and need a communication device and be a bit “different” but essentially she’d be happy and we’d learn to adapt. So based on that ridiculously rosy picture of disability, which is incidentally the one we are all fed by the media, we were pretty ok with it.

When if at all did you bond with Alice?

After Alice was diagnosed, she was started on the standard NKH medications. We were told they don’t always work so we should prepare for that as a possibility. Apparently, we could see improvement within 24 hours but if after 5 days there was no change then we had to accept nothing could be done and we needed to discuss End Of Life Care and DNRs (Do Not Resuscitate) protocol.

On the morning of day 5, Alice was still unconscious and unmoving. Her seizures had calmed considerably but she was showing no real signs of life. My Mum had arrived from the UK, so she agreed to sit with Alice for the day and myself and Greg would take George to the zoo and we’d discuss our options. Its really hard to explain how surreal these conversations are. One minute you are a smug happy family with two very young kids and next you’re chatting with your husband about whether you let your child die in front of you or if you will allow CPR or breathing tubes to be passed down your babies throat. All while at the zoo with a two year old, eating ice cream and trying to laugh at the monkeys throwing poo and explaining why Giraffes have long necks!

Anyway, back to the question. We got back to the hospital that afternoon and still no change in Alice. Greg took George home to be with friends and I was left at the hospital with my Mum and an unconscious Alice. I lent over to give her a kiss and said the standard stuff that was always met with no response whatsoever, something like “Hey Beautiful, Mummys back” and the most amazing thing happened. Alice not only opened her eyes but she looked directly at me and did the biggest most shit eating grin you have ever seen. Now Alice had not once made eye contact in her life and she’d certainly never smiled. This was absolute confirmation that she knew me, she knew my voice, she knew my face and she was happy to see me. She smiled several more times, and not just with her mouth but her whole face. That was the moment I fell in love and bonded and it was just like the moment I first saw my son. I don’t really consider she was Alice before that point, she was just an empty shell that breathed and puked and shat. This was the point I met my daughter.

When will Alice Die?

We honestly have no idea.. Each year the immediate threat becomes less but we just don’t know what the future holds. Right now young adulthood certainly seems achievable and considering her life expectancy was two to five years at most, that’s pretty good.

What will she die from and what kills most NKH kids?

The statistics seem to change all the time but my understanding is that almost half (maybe more) will die within a month of birth. Glycine shuts down the respiratory centres in the brain and they just stop breathing. If they survive this period it is usually either seizures that just cannot be stopped. The stress of this causes heart attacks or multi organ failure. Or it will be respiratory issues caused by an illness. In NKH a cold will affect them like deadly flu and a flu will often turn to pneumonia quickly. With lack of movement, being unable to sit or roll, possibly not even being able to swallow saliva or cough, just the tiniest of illness is too much for most NKH kids. In the older more affected kids you often just see a slow deterioration over the years. The stress on their bodies each and every day is immense and at some point it just gets too much.

The milder kids, like Alice, seem to face the same threats into toddlerhood but after that it becomes less risky. Currently a big illness is still a major threat to her life and two major illnesses back to back could cause serious problems. Progressive digestive issues have taken the lives of two mildly affected NKH girls under the age of ten, so that is a concern for us as gut problems feature heavily for Alice. Whilst she doesn’t have regular seizures, the threat is always there and at some point we will inevitably see them again. Illness is incredibly hard for any NKH child and minor cold to you and I will still render Alice unable to walk or communicate for several days. She will revert back to being tube fed and sleep almost constantly.

Does Alice know she has NKH?

Kind of. She knows she has something that makes her different and she knows its called NKH. She understands that not everyone has a feeding tube and that she needs medicines to help with her “wobbling problem” but beyond that Im not too sure how deep her understanding goes.

How behind her chronological age is she?

This is a tricky one because it varies in all aspects of her life. Some of her fine motor skills are that of an 18 month old. She cant unscrew a lid or put a lid on anything, she can only just flick a light switch and cant turn a handle. Her mobility is probably like an early walker in that she can charge around like a lunatic but you put some steps in front of her and it might as well be a 6ft ravine. She cant get in an out of the car without assistance or she’d fall flat on her face. Her volume of vocabulary is vast so maybe at the level of a 4 or 5 year old but her sentence structure and pronunciation are way behind that age. Id say her strong points are her understanding of her world and sense of humour are her best assest at maybe age 5 (she is currently 8). Things like she can put away an entire load of washing and know exactly what belongs to who and what drawers each piece goes in. She understands holidays, birthdays, which family members sit where in the family tree, why we see doctors or dentists, why we wear sun screen or why we need water and food. And her comic timing and sense of humour is certainly en pointe. In fact it was when she first showed an understanding of comedy timing and humour that I knew she was way more intelligent than anyone realised.

Whats the hardest part of raising Alice?

Year one and two was just keeping her alive and out of hospital so it was all the medical stuff and the imminent threat of her dying but by the end of year two it was apparent that the behavours and kind of aggressive autistic part of her condition that would be our biggest challenges.

Other people ignorance is hard too. Yes you get stared at, yes people make stupid comments, yes you get judged.

Finally Id say medical professionals not listening to the parents and insisting they know better. You never expect that you have to fight beg and quite literally scream at so called professionals to get the care your kid needs.

Do you worry about the future?

Yep. Im absolutely shitting myself. I was 39 when I had Alice so technically I need to live well into my 100s and remain fit and healthy all that time. That’s before I even think about the fact that we are about 2 years away from Alice being able to take me in a physical fight.

Would you of aborted Alice had you known?

Honestly, yes I would. But the person I was pre Alice is not even close to the person I am now. Its like asking a teen if they want to try hard drugs at a party and then asking a 40 year old with a good job and family if they like to give a smoke of heroin a whirl. You cant compare the two.

But I have learnt that absolutely NO ONE is in any position to judge anyone else about their choices in this type of matter. Any decision like this where disability or shortened life spans is an issue, is totally personal and up to the individual. No one has any right to assume they know even 1% of what is going through the head of those directly involved. Please remember that.

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