This Time Next Week..

Well, what a long road we have been on. It seems like 5 minutes ago I gave birth to my tiny 5lb Amber. If only I knew at the time what her future would hold, I might have been able to prepare myself. The thing is I had no idea, and neither did she. We just go with the flow and that’s been Amber’s life for the past 5 years.  

The other day I met with a wonderful woman, a mummy, an advocate. And do you know what, her child had an extra chromosome too, just like Amber. And do you know what, her baby died. Her Baby, Rose, was just like Amber, medically classed as incompatible with life. 

The thing is, Rose could have lived longer, maybe not to a year old, or two, but longer than the 14 weeks she had. The reason she could have lived longer is because of people, mums like me, who blog, and cry, and emphasise, and share their life, and their children, and prove than they are worth more than the care they receive. 

Medically speaking, if you are expecting a child with Down’s syndrome we have moved forward. We don’t (as a country) offer you terminations as quick as we would have 50 years ago, we even (and rightly so) provide Down syndrome children operations that will save their lives. Why are we not doing that for children like Rose? 

Rose had an extra chromosome 18, which her parents knew about before birth. Her care and opportunities were limited, due to her early diagnosis. She had Edwards syndrome. 

Amber has Trisomy 13 (Patau syndrome) More rare than Trisomy 18 or 21, with a lower life expectancy.  We were not aware of this before birth as I declined genetic testing whilst she was in the womb, I declined the triple test and I declined the amniocentesis. I am completely sure that Amber would not be her now if I had accepted those tests. I do think that the medical profession would have declared my baby incompatible with life, and in a way that would be true. The only reason she is still here now is because she’s has surgery to repair her kidneys, medication to reduce her seizures, hormones to stimulate her growth, and now brain surgery to remove some of her brain damage, as well as multiple other procedures which have become the norm. I am so grateful that this will hopefully improve her quality of life, but I also think that if Amber had been diagnosed with Trisomy 13 (Patau syndrome) at birth, or before , and not at 2 and half years old, I do not think she would have been offered the same opportunities. I honestly believe that Amber would not be here.

Life with Amber is bloody tough, but she is still here (and very happy, but extremely naughty) with what is classified as a life limiting illness. 

Would I change her… oh god absolutely. Without a doubt. But only so that she didn’t have to go through all that she does.  

If I was to get pregnant again, would I take the blood test at 13 weeks which would highlight any abnormalities in the genes?    I have no idea? Probably not. What would be the point for me? I already have a child that medically speaking shouldn’t be alive so what does the test actually represent? 

Would I find out the sex of the baby at the anomaly scan? Absolutely not, I’d have a surprise, I’d just hope for good health, but each to their own. 

This time next week Amber will have just come out of surgery having spent a minimum of 6 hours in theatre removing some brain damaged area to try and reduce her seizures. 
Amber will be the first patient with Trisomy 13 to receive epilepsy surgery at Great Ormond Street, or in the world. I hope we can make it so that doctors are not so scared to treat these children, and for parents to not be scared to have them 💕 

This time next week Amber will be out of major brain surgery. She will be be 5 and a half years old. She will still be my daughter. She will still be my other daughters sister. She will still be developmentally delayed. She will still be amazing. She will still be Amber 💕

I’ll update as soon as we can, 

Jo xx 

We’re on the countdown…

So… here goes. What happened at Great Ormond Street. I’m sorry it’s taken me so long to post, I know many of you have been wondering what went on. Thank you for the support you have shown ❤ It’s taken us a while to get our heads around it all to be honest! 

It’s taken over a year of tests, lots of seizures, many tears, sleepless nights, days off school, lots of wine, never ending research, but Amber is now on the waiting list for Epilepsy Surgery at Great Ormond Street Hospital. 

We have spent many hours chatting with family, each other, the hospitals, school and friends, and decided to go forward in the hope it will improve Amber’s quality of life and improve seizures. 

Last week Great Ormond Street informed us that Amber has ‘Cortical Dysplasia’ (have a google – I’m still getting my head around it) as well as all her other diagnosis. Amber needs the operation to remove this abnormality in a procedure called a ‘Temporal Resection’. 

As you can imagine, this is a very stressful time, but we are positive that this is in Amber’s best interests. There are risks, as with any operation, and she will have a scar, and a very sore head for quite a while, and it will be a long recovery, but it’s now or never. 

I am going to blog my way through it all, and show what an amazing little fighter this girl of mine is! It’s going to be emotional, and upsetting, but as always it’s going to be real life and I hope you’ll support us through it all! 

Over and out for now… 

Jo x

Fed up of being brave…

This is no woe is me blog, no asking for sympathy or looking for ‘hugs’, it is simply a rant. 

I am often told how ‘brave’, ‘positive’ and ‘strong’ I am dealing with Amber in the way I do. Most of the time it is right, I do just get on with it, but do you know what? It’s because I have to, there is no other option. I can’t send her back, or swap her, or change her. Not that I’d want too mind, I’d like her not to have shitty Patau Syndrome and all that comes with it though. 

I’m sat here on the eve of her second of eight hospital appointments this month, trying to work out how I can juggle things logistically so that I’m in three places at once. It’s just a mine field. Entertaining Amber en route to these appointments is a task in itself, never mind having to do it on your own, whilst being directed by the sat nav, watching for seizures caused by travelling, singing baa baa frigin black sheep, blue sheep and red sheep, whilst thinking of what you need to ask at the appointment. Well it’s stressful. And I have to do it alone, because Mr. P has to work all hours god sends in the most obscure places in the UK to cover both our wages. Once upon a time I had a half decent job, I was in charge of staff and little people, had a role and a purpose. Now Amber is my purpose. And do you know what? At times it sucks. Really, really sucks. I can’t always give Megan the time she truely deserves, quite often they get fish fingers for tea, maybe even twice a week sometimes, but do you know what? I don’t care. I’m doing my best. My best won’t always be good enough, but my god I will try. 

So for tonight I’m not going to be brave. I’m going to be me, Jo. And I going to be terrified at the prospect of what the future holds, and I’m going to write down questions for the brain surgeon at Great Ormond Street, who we see at the end of the month, and I’m not going to be brave. I’m going to ask the questions you ask me, and somehow I will find an answer to them. 

Then, tomorrow morning, I’m going to wake up, paint that smile on, suck it up and get on with it, because for now, my kids are my job. My life. 

Ps. Positivity is key and will resume again soon. 

Jo x 

2016… Tribute to those we have lost, and let’s change NHS guidance on MT13

2016 was a year of acceptance and change for us. Most parents of children with Mosaic Trisomy 13 (Mosaic patau syndrome) get their child’s diagnosis either during pregnancy or not very long after birth. The reason we didn’t find out as early is primarily due to the fact that Amber has never given up, and secondly that I never had the triple test in early pregnancy. 

The triple test… the test that apparently screens your child for Downs Syndrome. They forget to tell you that it also tests for Patau Syndrome and Edwards Syndrome and probably a whole host of other things. I politely declined the blood test as I knew from the start I would never be able to terminate a pregnancy on the basis of Down syndrome, and being 24 years of age at the time of Amber’s pregnancy, I had a (false) sense of security that I was safe. 

Patau Syndrome… here’s the NHS link (below). Can you imagine finding out your child has this? ‘Over 90% born with Patau Syndrome die within the first year’ http://www.nhs.uk/conditions/pataus-syndrome/Pages/Introduction.aspx

So, as you can imagine, sat in the genetic doctors room back in 2015, hearing Amber’s diagnosis, with Amber then being 2 and a half years old we were in complete shock, disbelief, confusion, panic, and probably, looking back absolutely terrified for our families future. I’m thinking maybe the NHS need to amend their guidance? 

So going back to 2016. We have befriended many other Trisomy 13 families, and sadly many of them have lost their beloved warriors. I want to pay tribute to them. These children, for some unforeseen reason have been given to these precious families. I’m not an overly religious person, but I’d like to believe in the greater good, and with the thinking that ‘everything happens for a reason’. 

We, as a family have become to accept Amber for who she is, the eccentric, hilarious, funny little thing that both excites us and terrifies us on a daily basis. Yes, she has lots of issues, yes, it’s extremely tough, but ultimately I couldn’t be without her. 

2017 poses lots of challenges for us, mainly with Amber meeting Great Ormond Street Neurosurgeons in February to discuss her surgery. 

My New Years resolution for next year is to appreciate all the small things Amber CAN do for herself. At 5 years old she cannot dress or undress, climb stairs safely or run as fast as her peers, or tell us what she is thinking, but she does make us laugh, and happy and she can get across her needs to us in a very simplified way. 

I doubt Amber will ever be a fully independent adult, and I’m now cool with that. I’ll even let her carry on making imaginary ‘snow angels’ in Tesco’s, as long as she’s happy, who cares? 

Jo xx 

Yep. I’m so over babies…

I’ve just spent the past hour in the ‘child zoo’ AKA play gym. One place where in theory you can go to let your kids run of steam and meet new friends, while you sit, talk and drink tea. In reality, this doesn’t happen, you get coherced into going down the big blue slide, have your pockets raided for 50p’s for bouncy balls that go missing in no time (which then leads to tears and tantrums). Kids share germs, try and pop each other’s snot bubbles, cough in each other’s faces then go and share all them lovely germs with their extended family. 

What a play gym is also guaranteed to do is immediately quash any feelings of broodyness you may have had. Today I saw one woman being dragged literally in three directions. She was trying to push her 2 year old on a toy car, whilst her slightly older child was hanging off her skirt (fake crying) in a bid to get her to watch him do a roly-poly, whilst she simultaneously breast fed the baby in the sling. I mean hats of to her – firstly for even being able to get out of the house with three kids under 5, secondly, for successfully breastfeeding in that situation, and thirdly for not completely loosing her rag and telling them all they were going home! I looked at her with both awe and sympathy, and wondered why we do it to ourselves? Only last night Mr P. came home from the pub and laughed at how much our lives had changed since having the girls. I was bathing them both, house was in a small state of disaster and the tea was burning in the oven. He said we used to be ‘cool on a Friday night’. I wouldn’t change it though, I’m just not having any more!! 

Today however, I got my theoretical situation 😜 I suddenly realised that the girls are at an age where I can sit in the play gym, with a cup of tea, and a book, and have half an hours peace (as long as I supply slush puppies and smarties). Megan loves helping Amber around and I only need to keep glancing over to check A’s not going to have a seizure or attack another child. Maybe that’s why I’m actually not broody anymore?! 

Jo x 

Just a quick update…

It’s not often it happens that Amber has two appointments in one day, but when it does I really wish (afterwards) that I had rescheduled one of them. 

Just to get her to said appointments (and back and forth to school twice) I have driven just under one hundred miles. It’s no wonder really that at 3pm she gave up on me and fell asleep… I actually think it was my rendition of ‘Wind a Bobbin Up’ for the twelfth time that finally got to her! 

This mornings appointment was Occupational Therapy. Amber doesn’t seem to be using her left arm/hand as much as she possibly could. She can use it, but for some reason she chooses to use mainly her right, even for activities that require you to use both. This is preventing Amber from being able to physically do things like dressing/undressing/zips/buttons/toileting etc. Hopefully over time the therapy will improve her dexterity, meaning that in years to come she might actually be able to be more independent. 

The therapist also agreed with me that it seems Amber has some sensory issues. I’ve known she has for a LONG time, but it’s really difficult to get some Doctors etc. to take notice of you over this type of issue. Which is a shame really as sensory issues can have a massive impact on a child and the people around them.

This afternoon we saw Amber’s Neuropsychiatrist – who is actually amazing. He is involved with Amber as part of her epilepsy surgery assessments to determine how her behaviour is affected by the epilepsy and damage. The appointment was, erm, interesting. After her little nap in the car, Amber woke up and was on true Amber form. I had taken a little bag of snacks and toys to entertain her, but that just wasn’t going to hit the spot today. During the appointment we had to actually lock the door to stop her from escaping, she drew on walls, she broke a stethoscope, she poured the hand alcohol rub all over the floor and was generally just a little s**t, sorry, madam. Oh and half the consultation was done in the dark as she kept on turning the lights off. Not surprisingly the psychiatrist sent me on my way with an autism questionnaire to fill in, and repeatedly told me that she has lots of ADHD tendencies that could be medicated in the future. The poor bloke looked like he was going to have a break down when he finally ushered us out an hour later 😂 

So all in all it’s been an odd day, but as Amber’s Headteacher said to me today, “that’s Being Amber’s Mum” or something along those lines! 

Have a good evening 

Jo x 

Is it a seizure? …

Is it a seizure? Is she just tired? Is she being daft? Is she having me on? That’s what I was asking myself at 3:30am this morning in my sleep deprived state when I found Amber up for the gazillionth time in a eye-rolling heap on the landing floor. Only an hour before had I tucked her back in bed, then collapsed into my own in an attempt to get some sleep. So, when I found her at 3:30 I took her in with me, cautiously watching her with one eye, the other on the clock just incase I needed to give her rescue medication. 

We must have fallen asleep, a deep  huddled together postictal sleep (Amber – not me – I was just exhausted), because it was quite a shock when I woke to the hubby ringing repeatedly at 7am. Most of you will be aware that Amber is usually up by 5am most days, so being up at 7am means we’re late. Very, very, very late. Cue mad panic, grabbing the nearest items of clothing whether they matched or not and attempting to get ready for the day before I’ve even had any caffeine. Meanwhile, Amber’s still laid in my bed saying “I need to stick it sellotape”, not because she had any sellotape, but just simple because… well I don’t even know? Why does she do anything she does? 

The following hour consisted of making packed lunches (I’m pretty sure I did that – if I didn’t they came home today with yesterday’s empty lunch boxes and the dinner ladies took pity on my disheveled children and fed them anyway) attempting and failing to administer Amber with her morning medication, giving the girls a rushed breakfast whilst simultaneously trying to make myself look presentable and listening to Megan reading a book that she absolutely HAD to change today. 

I then loaded two kids, a shed load of paper recycling, and a hundred book bags into the car and laughed. Like proper laughed. I was laughing because by some miracle I had pulled it off, I had two happy, clean, fed children sat in the car (on time, may I add) ready to go to school. That in itself, for any parent, is pretty spectacular because mornings are hard work.

We got to school, and guess what?!? One other parent said I looked “super organised today”. Now, she was either taking the piss or I do ACTUALLY have Super Mum powers. I’ll take that though!! The special needs mum can actually appear calm and collected 😂 even if I was feeling uber anxious about Amber and had eye bags down to my knees. 

So now I’m laid here in bed, at 11pm, after I’ve finally had chance to eat, clean the house, do the washing and drink a glass of wine. I’m ready to see what adventures tomorrow can bring. 

Please someone, let it be peaceful 😂😂

I’ll let you know how it goes. 

Jo x 

One full week (almost)…

So Amber has done her first full week at school! Well, nearly. On Monday she had an appointment at the LGI with the neuropsychologist (one of the specialists assessing her before they make a final decision about epilepsy surgery), he seems to think Amber has regressed in a couple of areas, with her ‘receptive language’ and ‘life skills’ being that of a child aged 1 years 10 months 😫. Amber is 4 and a half. He is however supporting surgery and is sending his report to Great Ormond Street. 

Anyway, back to the school stuff… Amber has full time 1-1, with a different member of staff in the afternoon to the morning. She is very demanding so I think this is an excellent idea. I love the fact that they seem to be giving her some independence and letting her get on with what she can, while they observe her from a distance. One of my biggest concerns was that Amber’s social development would be further impaired if she had an adult constantly stuck to her, but they seem to have found a good compromise. 

Megan has told me lots of stories about Amber throwing bananas across the dinner hall, being bossy, painting her arms and trying to lay on the floor instead of walking. At least she is staying true to form and being ‘Amber’ 😳

Amber is very proud to be at school like her big sister, which is great, but I feel redundant! Especially on a Wednesday, I don’t have a little swimming buddy anymore, and I’m sure the staff in Sainsbury’s Cafe will wonder where we are every week at 1pm 😂

One upside to school (which I had forgotten about since Megan was in reception) is that they get absolutely shattered! Amber has actually been sleeping longer than a few hours at a time. She was that tired yesterday evening, we had to abandon a bath and have a wash with a cloth on the sofa instead.

We’ve started a new chapter, which is scary and exciting. For once this journey is happening at the same time as thousands of other families over the country. I hope all your little ones have settled into school well! 

Tomorrow I’m going to explain Amber’s referral to GOSH in more detail and my feelings on it. 

Until then… 

Jo x 

So… Why are we so ‘weight’ obsessed?

This is not really Amber related at all, but I fancied a rant. 

Quite soon we are off on holiday and I really wanted to lose half a stone before we went, but actually, why does that even matter? As my good friend, Sarah from https://lifeandliftingblog.wordpress.com/ pointed out to me, I probably won’t even look any different. I go to the gym 3 or 4 times a week, and eat relatively well and generally I’m happy with my lifestyle. Yes, I drink more wine than I should, and I love good food and cooking… But hey, I’m a stay at home parent and a carer for Amber who has complex needs, I am not superwoman. No one can be that perfect. 

Her words actually made sense. Who cares? I will still be checking out the other women round the pool, comparing them to me and feeling shit regardless of what weight I am. I will still wear a bikini and try to hide the tummy roll every time I try to get off the sun lounger, but so what? Who is actually bothered? No paparazzi to follow me! 

We all need to lighten up and start setting a good, healthy example to our children and respecting ‘real women’ instead of idolising stick thin celebrities that have personal trainers/chefs/nannies and the rest. 

There is nothing wrong with me. Yes, I’m a bit curvy, I probably drink more wine than I should, but I’m happy – and my girls are happy, and my husband is happy. My fitness is better than it ever has been, and I really wish I took measurements instead of using scales. 

Life is for living… And we need to live it well and be happy and healthy. 

So… Bring on the All inclusive! 

Happy summer everyone

👙☀️🍸💪 

Jo x 

Is it her bedtime yet?!

I absolutely love my children, but my god, this week I’ve had enough. I want to hang up my ‘Mum’ hat and drink ALL the wine. 

 You may remember that Amber spent a week in Leeds hospital at the beginning of April to record her seizures. Well, the result of that was that Amber was having nearly constant epileptiform activity (which we knew) and a whole range of different seizures. Further examination of her last MRI showed she had some mild damage to the brain called ‘hippo-campal sclerosis’. Anyway, because of this we have been weaning her off one of her meds and onto another (sodium valproate) and she has turned into the DEVIL. She is pure naughty and testing every boundary going, both at home and at Pre-School. 

So far today she has broken the TV, DVD, and blown up the BT box – she poured milk over them all, oh and pushed ten DVD’s into the hole where one should go. 

Oh, and the other new thing she likes to do is to make herself vomit, then smear it over the windows. She also thinks it’s hilarious to throw her shoes at you whilst your driving the car. Everything in sight is thrown/poured/destroyed.

Apparently this behaviour is a side effect of the new drug and should settle down – in a few months 😳 I’m not going to lie and pretend Amber is usually an angel, she totally isn’t, but this behaviour is driving me bonkers. So, next weekend Auntie Louise and Uncle Andrew are in charge(I just hope they don’t read this particular blog and change their minds) me and Mr. P are off to to enjoy some ‘us’ time and I’m going to pretend I’m a care free 29 year old and not ‘beingambersmum’ for 24 hours. Relaxing weekend you say? Nah… Not us, just a spot of abseiling, plunge diving into pools and gorge walking! 

I’m also sorry that I haven’t posted for a while – things have been crazy busy here, but I will make it my July resolution to be a more active blogger! 

Enjoy your weekend – and your delightful children 😘 

I’m off to find a corkscrew…. 

Jo x