What is wrong with Lily?

I have had lots of experience of talking about Mast Cell Disease recently….from explaining it to the reporters who covered our fundraising event to lots of new Mums at the School she has recently joined.

When it comes to explaining MCAS, one thing always strikes me…its so hard to convey the total impact of the debilitating symptoms that Lily has.

When Lily has swimming lessons with School, I can be seen hovering next to the pool for the duration clasping a backpack containing epi pens, rescue meds and her heart rate monitor. Despite the fact that Lily hasn’t had anaphylaxis so far she is at a very high risk of having it and it is hard to relax when I know she is facing a trigger.

When we go for a walk in the cold I am constantly looking for flushed cheeks or swelling or waiting for her to refuse to walk as it has gotten to painful.

When we walk into shops I am sniffing to see what potential scented triggers there are and whisking Lily away from any I find – or telling her not to breathe in as we go past the scented candles section.

When she is running around I am keeping one eye to see if her getting too hot makes her react or if the other kids running around with her might have something scented on them that could cause a problem.

When Lily isn’t with me I make sure I have my mobile with me so I am available at all times for any potentially serious reactions that arise.

To many onlookers, I seem like an over protective Mum – but the reality is that I cannot protect Lily…at least in the outside World…and the best I can do the majority of the time is damage limitation. Having seen how poorly Lily can be – and to have sat with her for hours trying to help her through the bad days, having waited for hours in hospitals so she can be monitored and cared for and having seen her miss out on many things that she is just too poorly to do, I don’t want to see my baby suffer any more than she has to.

MCAS is confusing to understand and complicated to explain. There are so many variables, so many symptoms and triggers and each case is unique. I want Lily to grow up in a World where people understand why I am crushing pills for her to take during a carol service she’s in or why she is flushing bright red or itching all over like a crazed monkey. I want Lily to grow up in a World that accepts her and supports her. A World that nourishes her – and where people try to understand how not to make her ill.

Don’t waste time waiting for the storm to pass, learn to dance in the rain.

I recently bought a print with this quote for Lily’s bedroom. I sat on the end of her bed as I gave it to her and told her that MCAS is her rain.

Every single day we see some sort of evidence of MCAS….symptoms happen daily, her medication routine is completely full on and avoiding triggers is a consideration in everything we do!

We have a choice – we can give up with all of those potential triggers, we could home-school, not try new foods, avoid going anywhere with chemicals, shops with scented products, stop visiting friends houses and even avoid hospitals and Drs surgeries. But what sort of life would it be for Lily, living in a total bubble? While there are MCAS (and other illness) cases where people have no option but to live like this due to the severity of their reactions and the risk to their health, Lily (despite bring pretty unwell with triggers) has a safe bubble in our home and we can always bring her back into her bubble to recover.

Sadly this has meant we are unable to stay away anywhere really – as the cleaning and personal care products most people use make it impossible for us to have a ‘safe area’ in other homes. It is also pretty hard to source safe meat for Lily as we need to grill the butcher and try to establish that its safe before we can even consider serving it to her. Travelling is tough too – the vibration of being in a car can cause reactions as can traffic fumes. Services are a problem – all those scents and so much exposure! Really what many people would consider a ‘holiday’ would be such a risk for Lily that its not something we can consider for the forseeable future.

So while we are sensible – making measured and informed decisions to protect Lily as much as possible, we also want her life to have value. We want her to have happy memories and for her existence to have meaning. So we assess, prepare and where appropriate take a risk of taking her swimming, or to the Theatre – knowing we can hopefully use rescue meds and bring her back to our safe bubble when we need to.

I believe that part of my role in raising Lily is to educate her in the best way to care for herself. This means knowing when it is worth taking risks and knowing when it would be too detrimental. It also means allowing her to explore what is important to her – and therefore what she feels is worth the risk. But it also means learning to dance in the rain!

When the meds just don’t help

Sometimes despite throwing all the meds we have at it, we just can’t shake a flare. We have been in this position for the past 2 weeks now, Lily has had recurring urticaria we just can’t shift. It waxes and wanes but at times has been so unbearable she can’t tolerate wearing any clothing on the areas.

It breaks me a little bit every time we go through this – with Lily suffering but me being unable to help.

We have lots of ‘home remedy’ type things as well as her meds. We have a cooling mat to try and relieve the soreness/itching from urticaria, a doughnut cushion for when her bottom is so painful she can’t sit, relaxing/mindful cd’s to help her to relax through it, hot water bottles for pain, cool packs for pain/itching and more. But none of it really does the job – and sometimes, it seems, that we have to just wait for her body to try and sort itself out.

So today I took Lily to School in a panda onesie – not for a fundraiser for Children in Need or a wear your PJs to School day – but because she cannot tolerate anything tighter on her skin and I am so concerned about the amount of School she misses that I feel unjustified keeping her home because she is in pain, or itchy, or can’t wear clothes or sit. And then I walked out of School and cried. Because sometimes life just isn’t fair – and Lily seems to have more of those times than she should.

 

Explaining Mast Cell Activation Disorder to someone who has never heard of it

I have had a good amount of experience at attempting to break down the science behind MCAS to explain it briefly to those who wonder what’s up with Lily.

This is the most simple explanation I could come up with.

Mast Cell Activation Disorder is an immune disorder in which mast cells excessively and inappropriately release chemicals, resulting in a range of chronic symptoms.

Mast Cells are a type of white blood cell which are part of the immune system, they play a very important role in ensuring our bodies can protect and heal themselves. Mast cells are in all body tissues. When they sense a potential threat – such as a bee sting or an open cut which could be exposed to bacteria, they dispatch to the area to protect the body. They do this by releasing potent chemicals to attack the potential threat and heal the body. In Mast Cell Activation Disease, mast cells mistake innocent triggers as threats and release chemicals in an attempt to protect the body.

Unfortunately, these chemicals trigger reactions which are quite unpleasant, over 200 chemicals are released from mast cells and can cause the following range of often quite debilitating symptoms, frequently affecting multiple body systems at the same time:

Anaphylaxis, diarrhoea, nausea, vomiting, mouth ulcers, vulvodinia, hives, flushing, contact urticaria, headaches, bone pain, muscular pain, itchy skin, tinitus, pain, mucous discharge, fever, burning hot skin, ear pain, mood changes, malaise, anxiety, fatigue, nose bleeds, asthma, cystitis

Triggers can include foods, medications, exercise, chemicals, fragrances, stress, friction/pressure and heat. It is often difficult to recognise and identify individual triggers and many patients continue to discover new triggers for many years after diagnosis.

Treatment for mast cell disease involves stabilising mast cells as much as possible in an attempt to stop them from reacting to these innocent triggers and then treating any symptoms caused by the chemicals which are released. In the same way that we can treat the symptoms caused when our mast cells correctly attack a threat, ie antihistamines to reduce the histamine released due to a bee sting, we can also treat the symptoms caused when they inappropriately attack.

Elevated prostaglandins in 24hr urine methylhistamine test

When Lily’s 24hr urine test revealed elevated prostaglandins I needed to research what prostaglandins do and which of her symptoms were related to this chemical excess. It seemed like another piece of the puzzle we are putting together to understand the condition a little more.

So what are prostaglandins? Essentially they contribute to the inflammatory process in the body. They cause increased blood flow, chemotaxis (summoning white blood cells) and resulting dysfunction of tissues and organs.

Prostaglandins cause pain, inflammation, flushing and fever. This makes so much sense in Lily’s case….she has all of these symptoms regularly. When her mast cells are more stabilised, these symptoms occur less often and less severely and when she is in a flare they occur more often and to more of an extreme. Her body reacts to many different triggers with these symptoms – and more.

Prostaglandins can be created in nearly all of the organs of the body. They are created at the site of tissue damage or infection where the inflammation, pain and fever is caused during the healing process. If your body begins the inflammatory process, the production of prostaglandins in the central nervous system also causes fever.

Prostaglandins play a part in the contraction and relaxing of the muscles in the gut and airways. Does this explain why Lily often has such chronic tummy pain?

High concentrations of prostaglandins can cause direct pain to nerve endings, they also increase sensitivity to pain and play a role in the central nervous system in pain perception. (I.E things which may normally be painless may be painful).

In a normal functioning person, prostaglandins are created to protect the body. But when there is an excess of them created in error, the symptoms they cause can be debilitating and painful. Anti-inflammatory medication can be used to reduce the impact of these symptoms and mast cell stabilisers attempt to prevent the degranulation of mast cells which causes their release in the first place.

It has been helpful to me to understand that Lily has elevated prostaglandins and how this accounts for some of her symptoms. So much of mast cell disease is not understood or doesn’t make sense – but to me this makes sense, the symptoms are a direct result of these chemicals. I can then start to understand how the other chemicals released by mast cells are causing havoc in their own way!

The realisation that this is not going away

I have spent so long fighting for treatment for Lily, for a diagnosis, to see specialists who can help and trying to find ways to reduce her symptoms.

We have tried medications, food elimination and making her environment as chemical free as possible.

There has been so much to fight for, but when Lily’s 24 HR urine results showed elevated prosteglandins last week, I just couldn’t reconcile my thoughts. Why was I so bothered by this? Why did it make such an impact compared to her elevated n methylhistamine levels?

And then I realised. This isn’t going away. Not that I had thought it would…just that I’d never really thought about it. I’ve been fighting in the moment for so long that I hadn’t considered the fact that this will most likely be life long. We move from battle to battle, addressing each individual incident of urticaria, flushing, diarrhea, pain etc with each battle being about overcoming that specific flare. 

There are bigger battles….like medications, medical teams or trying to keep her well enough for School. But it didn’t occur to me until last week that these battles make up a war which she is likely to be fighting for life.

This war where her body attacks itself and she suffers awful symptoms which nobody should have to endure. The war where every time we find some sort of treatment for a symptom another rears its ugly head! And the war where the best treatment we can hope for is to try and prevent flares using mast cell stabilisers and treating the symptoms resulting from flares. 

Currently we are fighting this war from the back end…dealing with whatever her mast cells decide to cause havoc with after it has happened. Hopefully in the future we will manage to gain enough control to prevent more symptoms than we treat!

24 urine methylhistamine test

Lily’s Haematologist wanted us to carry out a 24 hour urine collection to look for mast cell mediators.

I did as much research as possible in order to ensure the test was not invalidated by mishandling (mast cell mediators are pretty fickle and disappear very quickly).

The collection bottle must be refrigerated prior to beginning the collection.

The jug used to collect urine must also be refrigerated.

The 24 hour period should commence on the second wee of the day, check the time as this will be the exact time to finish collection the following day.

Collect any urine in the refridgerated jug and immediately return to fridge. Only tip into collection bottle once it is cold so as not to warm up any other urine in the bottle.

At the end of the 24 hours, at the exact time you started, pass any urine you can and then, once cold, add to the bottle.

To travel with the bottle to the hospital – we purchased 3 large bags of ice and a cool bag. We packed it tightly around the bottle to keep it cold and to avoid any possibility of it warming up during transport. Hand it directly to the lab (or nurse/Dr) explaining that if it is not kept cold, the sample will be void.

I have read reports that n methyhistamine can disappear as quickly as 40 seconds from leaving the body.

It is worth remembering that the mediators that are being searched for in the sample are a direct result of a mast cell response – so if you are totally stable with no symptoms, you are unlikely to have elevated levels. There is a correlation between severity of response and levels of n methylhistamine.

We stopped Lilys medication for the 24 hour period of testing as well as allowing her to choose some foods we knew would trigger reactions. We also took her swimming – which is another typical trigger.

Lily had elevated n methylhistamine from this test, which is the 3rd diagnostic criteria for MCAS as defined by the World Health Organisation.

 

Making washing liquid from scratch

A while ago I shared my liquid soap recipe with you. I use this soap as a base for many things – including washing liquid.

Its quite simple to make and can be made in large quantities for ease.

The ingredients are liquid soap, bicarbonate of soda, soda crystals and water.

Firstly, add 1/2 a cup of bicarbonate of soda and 1/2 a cup of soda crystals to your container.

Cover with a little warm water to dissolve. Stir until fully dissolved.

 

Add 3/4 cup of liquid soap.

Add 4.5 litres of room temperature water.

Stir and then decant into your storage containers.

Apart from the obvious benefits – of not making my Daughter poorly, this washing liquid doesn’t leave a nasty scummy film in your washing machine drawer and you don’t get the mould build up to clean that I have experienced with traditional washing liquids.

If it suits you, you could scent this washing liquid with essential oils – lavender would be nice, or anything else you fancy. This won’t work for Lily as she can’t tolerate the fragrances but feel free to use this recipe as a base and build your perfect washing liquid from there.

The wonders of Intal (Sodium cromoglicate inhaler)

I originally didn’t think an inhaler would be worth considering for Lily as she doesn’t have breathing difficulties in terms of asthma, wheezing etc as a symptom. One of her Consultants suggested that we use it as more sodium cromoglicate can be absorbed through the lining of the lungs than other available methods. I was a little sceptical – but desperate, so we gave it a go. Well I was so surprised!

I am so impressed with Lily’s intal inhaler. It has been incredible. Within 3 weeks of starting it she stabilised enough to do some food trials. Whilst taking it, her reactions have lessened, and her symptoms don’t last anywhere near as long and are not as severe. So if she does have a reaction is passes much more quickly…I have literally seen hives come and go in a matter of minutes, although not all reactions pass this quickly.

We have now been given the go ahead to increase doses further to try and stabilise her further- she was on 2 pumps 4 times a day, but now we use 2 pumps 6 times a day. This has made even more difference already!! We have been able to get another 3 safe foods this week, increasing her diet by 1/3 of her previous safe foods!

The difference I have seen in Lily is incredible. Not only is she more stable, less reactive and therefore in (at least slightly) better health, but her mood has lightened, she is having more fun – giggling more, more playful..its as if she was depressed and is coming out of it. I hadn’t realised that my happy, beautiful little lady had become so quiet and consumed by this disease. It is like she has some hope now…the freedom, stability and hope that intal has given us is beyond anything I had dreamed of. I know we still have a long and bumpy road ahead but right now I am counting the wins!!!

The tryptase question – high or low – how relevant is it? MCAS vs Mastocytosis.

Tryptase levels are thought to correlate with the quantity of mast cells. So if your tryptase levels are high, it suggests a larger quantity of mast cells.

Much of the great tryptase debate stems from the fact that it is quite common in MCAS for patients to have low tryptase levels. Some Drs then believe that mast cell disease is not the cause of symptoms. Which then can lead to an alternative diagnosis – Chronic idiopathic uriticaria, chronic fatigue syndrome, IBS etc.

However, in MCAS it is suggested that the cause of symptoms is misbehaving mast cells rather than an abundance of them, which would therefore not reveal increased tryptase levels.

Interestingly it seems that one can have high tryptase levels with a distinct lack of symptoms, or low tryptase levels with extreme ongoing life inhibiting symptoms. It would appear that there isn’t a correlation between tryptase levels and severity of symptoms.

Importantly, you can have Mastocytosis with a low tryptase level or MCAS with a high tryptase level!

Lily has only had one tryptase level taken – it was 2.6, which is very low and certainly not an indicator of excess mast cells. So far, Lily fits 2 out of the 3 criteria for diagnosing MCAS – multi systemic symptoms, with no other explanation, that require treatment and a positive response to drugs that inhibit mast cell mediators (histamine, etc). So we now need to look for a rise in tryptase level immediately post reaction or other mediator testing.

There is often discussion about the difference between mastocytosis and MCAS and whether tryptase level helps to distinguish between the two.

One of the criteria for mastocytosis is total serum tryptase persistently greater than 20ng/ml.

Alternatively, part of the criteria for MCAS is a rise of (min) 20% plus 2ng/ml from baseline taken 1-2 hours after a symptomatic epsiode. However if this rise does not occur, other mediator tests would be sufficient.

So how to determine if you have mastocytosis or MCAS?

I found the following video from Nancy Gould which explained Mastocytosis vs MCAS in a way that’s really easy to get your head around.