.... Five years down the line... Rare disease day Feb 28th 2018

So here we are 5 years post diagnosis.
So what has changed ? How have you coped daily with rare disease in this time?

Here is the transcript of an interview for rare disease day.

Q1 So Lets  go back to the beginning.

How did you feel when your child was first diagnosed?

A. In the first few days I was confused. I did not know the seriousness of her illness at this point, although a phone call from a consultant should have been a give away. But to be honest It was not fully explained to me. The condition or the importance of her medication. It was not until I started researching and spoke to a friend with the same condition that I actually realised my child was in fact now life long and life dependent on 4 small tablets a day. Without them she would live no longer than 3 or 4 days.

How did this make you feel?
A. As the enormity of it all hit me I was of course relieved that finally she was safe.

It may not seem safe to you or anyone else but to me I knew I could now save her if she ever collapsed or started to feel very unwell. Prior to diagnosis literally no one would have known that the only thing which could have saved her would have been 100ml of cortisol, intramuscularly injected in to her thigh.  Nothing else in the world would have done. It shocked me to the core
Would her play school leader have known this ? the teacher at her school ? Would the gp have known? The paramedics? The drs at the hospital? These questions span around in my mind thinking about the 14 years she was basically at risk from death every day.

The answer to this question of course is most definitely no. If anything had happened. A trauma for instance NO ONE including myself would have known she needed  that specific  emergency treatment within 30 minutes to prevent brain damage and ultimately death through an adrenal crisis.

Wow! That's hideous! so how does one process something like that?

A. So I basically went in to a deep hole. For  3 months I was in utter shock. I felt quite numb thinking about the times she showed very clear signs that she was getting very low and probably slowly descending in to adrenal crisis / coma.

How did this present itself ?

A. For one example Molly had an appendicitis. The miracle that she survived this and the surgery was that a shot of 100ml of cortisol was given to her to protect her lungs as she has chronic asthma.

So that is the emergency life saving treatment you spoke of ?
Given by accident ? Well correction, for another ailment?

Yes and also the exact dose you would give an adrenal patient going through surgery.

So you could have lost her that day?

Yes.
she was also hallucinating when we finally got her home. She slept in a toddler bed in my room for a month, (she was 9  she was tiny because non diagnosis also meant she had not been given growth hormone she needed for her whole life)
It took over a month for her to fully recover because she does not make cortisol which aids us to repair ourselves.

Molly did not have the ability to get better from a simple cold, hence the reason for her being so poorly all of the time.

So the whole recovery system is absent?
Yes basically, we need cortisol (our stress hormone) to live, to repair, to fight, we produce even more if we are poorly or in trauma to enable our bodies to fight illness/ infection etc.
So is cortisol like adrenaline?
Cortisol is produced by the adrenal gland it is what diffuses adrenaline. If you keep producing adrenaline over and over with no cortisol to bring you back down you will probably go in to cardiac arrest.

So how did Molly survive for 14 years?

The answer to that is we do not really know.
The drs have said she was progressively getting worse, possibly only ticking over every day because of the high in cortisol(steriod) asthma medication she was taking.
So she was taking a low dose of steriod every day?
Yes ... lucky for us she was.
But it was not enough. Molly used to go in to deep deep sleeps when she was unwell, she would be un wakeable and didn't even know if she needed to pee at night because she slept so deeply . 
We were told retrespectfully  she was probably going in to a semi coma every night. And when she was ill.


This is frightening stuff. So how can this happen it seems almost victorian!
?
Molly has a 1 in 100,000 pituitary condition. It is very rare although adrenal insufficiency the life threatening part of it is more common in other conditions like Addisons disease. In fact there are over 80 conditions which cause this life threatening illness.
 Molly produces no growth hormone either and also has an under active thyroid. Hypothyroidism. To be honest with you we have recently discovered her thyroid was flagged up at 4 months old as being abnormal. Nobody told us about this we found it in her notes. I am still to get to the bottom of it.

So you went in to this depressive hole?

Yes I did for about three months, I cared about nothing but Molly's new found illness. Everyone elses problems seemed ridiculous. I felt that no one else in the world existed apart from me and my family and this massive thing we now had to deal with. Literally anyone elses problems were in my head ridiculous. I started getting angry with people moaning about the weather, the fact that their little Jonny was not picked for the school play or the fact someone had got a parking ticket. I was so angry with these people for not feeling real pain and serious earth shattering news revolving around the life if their child. If only they knew they'd shut up about stupid little things and feel grateful they didn't have this to deal with.

Quite i can see what you mean. ln fact I feel a little foolish now about shouting about no milk in the fridge this morning.

So then what happened? Did you get out of this hole?

I did after this time things started annoying me. The fact that there was no emergency injection pen for her condition like an epi pen. Just a glass vial a needle and syringe which someone slipping in to unconsciousness is supposed to put together draw up medication and save their own life.
I then looked at what she would have to put up with for the rest of her life. The fact she would have to take 4 tablets a day to stay alive, with no way of measuring how much she needed. No way of checking her levels if she was low.
My anger started to focus on this.

Seriously so there are no level checkers?     For this life threatening condition?

No nothing.

I can see why you were angry and the emergency injection ?? Surely this is a medieval way to manage a condition??

Yes well I'm glad you agree. I started up a group for people with Molly's condition we are now 3 and a half  thousand  strong and decided to put a petition together to petition the government to get a quick pen developed.

Wow

So within 6 months I had 10,000 signatures and so many reasons listed of appalling stories about people dying because of this and the fact that people are still to this day being refused thier emergency injection by medical professionals who are not aware of the condition.

So did you get any results?

Yes within 3 months of the petition a dr who has a daughter with the same condition from up north came on board and not long after a pharmaceutical company who make quick intramuscular pens said they would develop it. This was a few years ago. As far as I know they are going through the process of getting funding through an orphan disease application. 

So they have the product?
Yes they have done since the beginning its just a case of red tape laws and suppliers.

Well that is quite amazing.

Well Let's not   celebrate until we have it in every emergency kit.

And So how is Molly now five years down the line?

Molly is unfortunately still quite poorly. Although she has been replaced with the correct hormones for the last 5 years I'm afraid  14 years without diagnosis has taken its toll.
Molly has also developed myalgic encephalitis (ME or cfs)
She is in a wheelchair now having twice weekly oxygen therapy. This is helping but she is still in a lot of pain, it is going to take some time to rehabilitate her. Her body is very tired.

So what is this book i hear you have been doodling?

Well I've slowly and reluctantly  come to realise that molly will probably never be truly independent or able to have a full time career. She sadly left school at 14 because she was too unwell to continue.
So instead of going down the. usual route of sueing the Nhs for her future and past damages I decided to do something about it myself. (They have also saved her life many times) and that sits with me deeply.
I spent 9 months putting together a colouring book, I'm an illustrator and have been drawing colouring in pages for molly for 18 years mostly when we were in hospital on our frequent stays when Molly was poorly.
Molly has chosen her what we call ' sofa heros ' people she looks up to. I decidded  to ask them if they would also do a doodle. Some of these guys are well known others are not.

So who are her heros?

People who have inspired her in her life(from the sofa), people she looks up to.

Want to name a few we might recognise? 

Well we have people like Warwick Davis, Nick Knowles, Julia Donaldson, Eddie the Eagle, Dom Littlewood, Jilly cooper...

Wow that's amazing and what have all of those people got in common?

Well one thing they have in common now  is Molly! And another thing is that they are all very kind.


You'll have to read the book to find out #grins

So we can read it and colour it?

Yes its basically Molly's life story in colouring in pages.  from birth until now.

Well that sounds amazing and what are you doing with the proceeds ?.

Moll has a fix me fund with registered childrens charity The tree of hope.

Every single penny goes straight in to that. We privately funded the printing costs so we don't have to worry about paying anyone back. 100% of the proceeds go straight to Molly. The tree of hope sanction every purchase made as the charity solely supply's medical treatment and equipment. Our first purchase will be a motorised wheelchair for well days to give Molly a bit of independence. We would also like to raise  enough for an adrenal pump as this would be far better than taking those 4 tablets a day.
Then we would like to see if we could get her a hydrotherapy pool for pain relief. Also just to provide her with everything she could need for the future. We will not be around forever.

Wow that's a lot of book sales!!!

I know.... its a gamble but hey so was everything Molly did for 14 years. The odds should be in our favour.

Ok well thank you Rachel for giving us an insight to what it is like to live with rare disease.

Just one family of many doing what they can to survive the battles of chronic illness. Thank you for sharing your story with us and good luck in providing  Molly with everything  she needs for a comfortable  and enriched life.

If  you would like to purchase  a doodle for molly please visit

The tree of hope page 

https://www.justgiving.com/fundraising/doodleformoll

and to join Rachels awareness group click here.

https://m.facebook.com/rachelpeglersavinglivesforsterioddependants/

Rare disease day 28th of February 2018