Over the years I’ve written a lot about life as an autistic family. It’s no secret that it’s something I’m passionate about, but it’s also something I’ve acquired a lot of knowledge of over the years, both in a personal and (albeit voluntarily) professional capacity. Alpha-1, however, is incredibly new to us as a family, and we’re still in the dark about a lot of it due to NHS waiting lists (thanks austerity) and the fact that there is relatively so little known about the condition. However, November is Alpha-1 awareness month, so I’m going to take you on a little journey of what I know, and how it came into our lives in the first place.
Aaron has been a bit of a medical enigma since he was a baby. Compared to a lot of disabled folk, it’s pretty low-level, but nonetheless he has an amalgamation of different symptoms and conditions which has meant he’s been under paediatric care since he was small, and has had a whole host of specialists poke and prod him while they try and make sense of what’s going on. A quick run-down of the difficulties Aaron faces (or has faced in the past) include: no suck reflex when he was born, hypotonia, marked hypermobility, global developmental delay, and gastro-intestinal dysmotility (amongst other things, but these are the main points). He’s also a child who used to get very ill from simple viral infections, so we spent quite a bit of time going back and forth to the hospital spending days at a time on the wards on a semi-regular basis.
Due to his low muscle tone and lack of gross motor development, when Aaron was around 18 months old he had some blood tests to check his CK level to rule out muscular dystrophy, and at the same time a general blood screen was completed to see if there was anything else going on. His CK level was thankfully fine, but his liver function test was abnormal. As the numbers weren’t horrific, and as previously mentioned he was ill *a lot* at the time, it was put down to a likely recent infection and we all forgot about it.
Fast forward to 2017 and Aaron was hospitalised for severe faecal impaction. The x-ray of his bowel was completely white, and he was vomiting everything that tried to go down, including water. As he was so unwell the medics did a range of blood tests, again just to rule out anything sinister going on which could have been lurking in the background. His liver function tests came back abnormal. Again, it was put down to him being unwell at the time, and a follow-up appointment was made to have the bloods repeated so the medics could see them coming back down. They never did; not to within normal range, anyway.
At this point I’m going to digress slightly. When you or your children have illnesses or disabilities, you’re always told about how it could be worse. About how the worst won’t happen to you or your child. That you need to “think positively.” In today’s world you’re not allowed to do anything other than put on a brave face, and if you try to talk about possible outcomes (regardless if you’re doing it just to prepare, or if it’s for a pity-party) you get shut down. Usually with kindness, but shut down regardless. I prefer Seneca’s approach of thinking and talking about all the possible outcomes, including the negative ones, but it doesn’t seem to go down too well.
So, as Seneca would, I started talking to my friends and family about Aaron’s liver function and wondering what could be going on. Most told me it was probably his normal, and that of course there’d be nothing wrong with him and it doesn’t help anyone to think that there could be. I doubted myself, started panicking that I was a hypochondriac, and at one point seriously started asking those closest to me if I could possibly have Munchhausens. All I was doing was looking for an answer as to why his liver tests had never been within the normal range, but talking about it and the well-meaning dismissal of it being of any relevance just made me feel like I was insane.
Spring of 2018 was turning into Summer, and Aaron had started collecting paediatricians. The doctor who was overseeing his liver tests advised me she was going to do two more tests, just to rule them out. Once they came back negative she was happy to discharge us back to Aaron’s main paediatrician as it was probably just his normal. One test was for Wilson’s Disease, the other for Alpha-1 Antitrypsin Deficiency. As per my personality and thirst for knowledge, I started reading up on both conditions. Each was lifelong, had potentially horrible outcomes, and little treatment other than trying to minimise progression. Again, as I tried to talk to people about it, their overwhelming positivity made me feel like I was reading too much into things (literally) and I started doubting that voice inside my head that was convinced it was one or the other. We were told in a team around the child meeting in school during the summer term that his Wilson’s test came back negative, but that Aaron’s Alpha-1 levels were low and they had sent the sample off for genetic screening. Again I read as much as I could about the condition, all the while being told to think positively, and that he wouldn’t have it or even if he did, it wouldn’t be bad…
In July 2018 I was CC’d into a letter sent to a paediatric heptatologist in Kings College Hospital in London. Aaron’s phenotype was back: ZZ, with a serum level of 0.3 or less.
At this point that would make no sense to anyone without a knowledge of the condition. Heck, you probably don’t know what Alpha-1 even is! So here’s a quick run-down:
Alpha-1 Antitrypsin (A1A) is made by your liver which releases it into your bloodstream to coat your lungs to protect them against neutrophil elastase (NE). NE is released by your white blood cells to help fight infection, but they’re not particularly fine tuned and will attack healthy lung tissue if not kept in check. It’s the A1A that keeps the NE in check, so when you have a deficiency healthy lung tissue is attacked each time your body fights an infection or breathes in smoke and other fumes.
Image produced by the Alpha-1 Foundation
Most people have a phenotype of MM. This means you don’t have Alpha-1 Antitrypsin Deficiency and your body works as it should (in this area anyway). I’d still advise you to stop smoking if you do though, that’s not good for anyone.
Carriers (which myself and my ex-husband both are at the very least) have a phenotype of MZ. This means we have one healthy gene and one faulty one. It’s unlikely that we’d have issues relating to this, however as A1A is a co-dominant gene type (i.e. you get 50% of your function from each gene), it is possible. We definitely shouldn’t smoke (Mike, I’m looking at you) and we have a 50/50 chance of passing on our faulty copy of the gene on to our children.
Full-blown Alphas have a phenotype of ZZ. Both copies of the gene are faulty and as such, their deficiency in A1A is marked. Your body requires a serum level of at least 0.8 to provide any protection at all to your lungs, as mentioned earlier Aaron’s is 0.3 or less. This places the person at very high-risk of COPD early in life – like, at age 30 early. With the Z mutation, the A1A that *is* produced often gets trapped in the liver as it’s misshapen causing liver issues, potential chirrosis, and liver failure. Many are dependent on oxygen early in life and the worst-case scenario for a ZZ Alpha is double lung and liver transplants.
Table produced by Think Alpha-1
(Note – there are other phenotypes including another common faulty type of S, but I’m being deliberately simplistic in the hopes that someone with no connection to the condition will have a read.)
We’ve been advised to keep Aaron as healthy as possible, which is good advice anyway, but we need to pay a bit more attention to his health, and need to take more preventative steps than you would for a typical child. This in itself is hard. As the lung and liver damage caused by the condition is cumulative, it’s proving incredibly difficult to get people to understand *why* I’m having to do this. Yes, him getting a chest infection now isn’t going to mean he needs a transplant, but each cold, infection, second-hand smoke inhalation etc adds just that little bit of damage to his lungs. Each particle of A1A that gets stuck in his liver is one more that could contribute to scarring. I need to think about the preventative protection a bit like a pension plan. You don’t see the benefit now, it’s much later.
There is absolutely no way of knowing which Alphas will be the ones who get really sick. None at all. We are incredibly lucky that he’s very well, and that he was diagnosed as a bit of a red herring while the doctors were looking into his other medical problems, but I want to keep him healthy and to do so there are some things we as a family need to do. I need to make sure our home doesn’t get damp. I need to ensure nobody smokes around Aaron, and that he never smokes when he’s older. It’s not advisable that he drink alcohol, and there are certain cleaning products and other chemicals that he needs to avoid as they’re absorbed through the skin and can affect the liver. There are jobs he shouldn’t do (working on a building site for one – an Alpha I’ve chatted to online is in his 30s waiting for a double lung transplant from working as a builder) and he really *really* needs to be prevented from getting chest infections, so colds, flu and other coughs are to be avoided as much as possible too. But me talking about this, or preparing myself for possible outcomes, gets me labelled as “negative” yet again. I promise I am not being negative. I’m using the information I have to get the best possible outcome for Aaron, and actually in cases like this, thinking positively that he wouldn’t be the person who gets really sick means that you become lazy in your protection. You let people smoke around him, you don’t go to the doctor when he’s coughing up green. Then years later you ignore the yellow tinge to his eyes and the swollen belly, the struggling for breath when he walks up a flight of stairs, and the thing you were told to stop being so negative about has happened.
For now we’re just concentrating on trying to get Aaron-centric information, which should be available once we get to see the specialist. Until then, his GP has advised we err on the side of caution, so my aplogies to the positive thinkers if I appear to be too negative or overprotective at the moment 😉 . Myself, Aaron’s dad, and his brother also need to be tested to see what our phenotypes are. It’s possible that the wider family will too, but we’ll cross that bridge when we come to it.
If you’d like to read more about Alpha-1, here’s a list of sites that I’ve found helpful: