Highlighting Cystinosis & Being Honest.

A few weeks ago I recieved a message from a publishing company, interested in my girls story and available to get the story out there and highlight Cystinosis. Didnt think it would do much but any awareness is better than none, well to my surprise we where featured in The Sun newspaper and online via The Sun and Daily Mail. Lovely articles as well with some gorgeous pics of my girls together. Have also been told a few TV programmes might be interested but we are still waiting to hear back. While its nice they highlight the disease and get some awareness out there they never fully understand what Cystinosis is and what it entails 24/7. Most of the time no one even knows the girls are sick and that in itself can be a blessing, they can lead normal lives and be happy little girls. But sometimes, it all gets too much. For me, for them. Medicines every 6hrs including during the night. Near on impossible to do eye drops hourly during the day and preparing the machines/milk feeds over night, lots of nappy changes due to fluid intake. The trips to hospital, the blood tests, the x rays, the tears and tantrums. E getting so upset when retching from afternoon meds or saying her legs hurt or her eyes hurt or asking for the blinds to be closed as the sun is too bright at only 7/8am in the morning. PM always full of cold, sneezing, coughing, not sleeping well. No offence to anyone but until you live it day in/day out they have no idea of what goes on or seem to think these children are going to grow out of it all. If only it was that simple and easy! This disease has NO cure. It takes children away for their parents, loved ones away from families. It can make you blind. The medicine makes you even more sick, gives off funny smells and some children are bullied because of this which makes me very angry. Makes some children not want to take their life saving mediciation due to bullies. Some children have been home schooled due to this as well. I know some people with Cystinosis who are in there 30's and seen as miracles, told they wouldnt live passed their 10th birthdays but still fighting strong, still in some ways suffering from stuff like muslce wasting but healthy in their own little ways too. Some are mothers which again is a miracle, its very hard for anyone with Cystinosis to be a mother and so very dangerous for both mother and child during pregnancy. Its hard knowing your child is likely to be bullied, hard seeing them play with dolls and know deep down they might never get the chance to be a mother and you a Grandmother. Knowing there's a big chance you are going to outlive your child(ren). Know if your child doesnt keep taking medicines kidney failure comes much quicker. A transplant DOESNT cure these people. Cystinosis then affects other organs like the brain, liver etc. If only it was as simple as outgrowing it or getting a kidney transplant. There's simple things in life I cant enjoy like other mums, having your child climb into your bed when he/she is upset or scared or poorly. Mine cant do that due to being attached to milk feeds all night. I dont normally blog such personal stuff but feel like getting some of this out there today. I am so blessed to be a mother I know this, especially to 2 amazing little girls who make my life worth living. I wish Cystinosis didnt exist, I had never even heard of it until E was diagnosed and by then I was 7mths pregnant with PM. Ive lost count of the amount of times Ive had to literally pin them down for nasal tube passings or blood tests or G tube changes, lost count of all the hospital stays. The Drs and Nurses know us all, like a little family in a way. My girls are only young so I know there is so much more to come but we are also hopefull for new medicines, especially the delayed release Cystagon which will only need doing every 12hrs instead of 6 but there's the added worry of the NHS getting hold of it or wanting to. Cystinosis affects people differently. Some seem to have no other underlying issues whereas others do. So in some ways some suffer more than others. I dont like to use the word suffer but when your almost 4 year old cant even walk down the street without being in pain then its needed. E is getting a disablility pram in a few weeks as she's outgrown her normal one. Both girls are having hearing tests done soon as well and we are at hospital again on Thursday for Renal Clinic. Sometimes you feel like you live at the hospital or might as well do. It would be much easier!

Good few weeks.

Well the recent clinic appointment went pretty well. Both girls levels are looking excellent, G tube sites looking good and both had gained some weight and a little bit of height. E is now 13.5kg and 88.3cm while PM is 9.3kg and 77.6cm. PM had an eye test recently due to a squint, turns out she is actually very long sighted so she now wears glasses. First few days she wouldnt keep them on but now she normally only takes them off when she's tired or frustrated. We also mentioned about her walking as she tends to limp and stumbles a lot. Dr had a look and decided to send her for an x ray. We are just waiting for any news now really. E is still currentyl loving nursery and had adapted so well to the 3+ room, her speech is just amazing now. PM is due to start in September. She is currently seeing a portage worker who comes to the house to play with her, this has helped her confidence loads and she is also now trying to say words. We use a lot of Makaton which both girls have taken to, both superstars at it. Yes Mr Tumble is a firm favourite in our house, we all enjoy watching it and learning new signs. Both the girls due another eye test soon to see if the crystals in their eyes have improved, got worse or no chance. PM's had improved last time, unfortunately no change for E. She still hates the sun shining in her eyes so just had to stock up on sunglasses for her. PM is now in a big girls bed bless her, I didnt want her to at 1st as she's still so small but she loves it and sleeps loads better in her bed. She looks super comfy in it as well!

We visit the renal clinic now every 6 weeks. Just routine stuff mainly and never really expect anything eventful to happen. Until our last appointment there!
All was going normal until they checked PM's blood pressure. High 2 times so they said come back after you've seen the Dr. Anyway. we're in seeing the Dr who now thinks E has asthma and was given an inhaler and they think PM might also develop it as well. Not the easiest thing at 1st trying to get a 3 year old to take her inhaler through a mask! E had to have another chest x ray and she's getting special insoles for her feet soon as her ankles are going in but her knock knees don't look any worse, bad thing is they don't look any better either.
Then they test PM's BP again and still high so we get sent up the ward for manual testing. Cut along story short it was done 8 times until they finally got a lower reading. They even used a Doppler twice on her little foot to listen for the heartbeat! We had to get her asleep before the last test but luckily that didn't take long as she was shattered bless her.
It was quite an eventful visit to say the least. Then the pharmacy didn't give us a mask for E's inhaler so we had to go through the GP and they are pretty useless most of the time but alas, they prescribed her one and gave us another tube with teddy bears on!
She's fine taking it during the day when wide awake but when she's coughing at night and half asleep she isn't keen at all. Think she panics at the thought of having a mask put over her face. I know I would!
PM been referred to eye clinic about her lazy eye. E's back at the bone clinic to get her insoles fitted soon then again in 6mths for another review. PM might be joining her as she walks with a limp and to say she's been walking for a few mths now she is still very unsteady and trips a lot.
E had lost some more weight and PM was about the same so growth hormones still in the pipeline for PM.

Hello!

Been quite a while since I last posted so thought I best get on with it! We had a lovely Christmas although there was a day or 2 when we thought we would be in hospital celebrating. Both girls where poorly week before and E was admitted, they tried with PM to but the ward was pretty full. Took them 6hrs to get E a bed!
Her potassium was low at 1st then when that was fixed her phosphate went low so she was on drips most of the time. They both where given anti biotics and after a few days where much better! They do not manage well with colds at all, it knocks them for 6.
Both of them have also lost a bit of weight and we where having problems with E's button hurting her, she wouldnt scream and cry if you went anywhere near her belly. It was a nightmare getting her on and off her milk and doing meds. The community nurses didnt want to change it 'cos of "its costly" but we couldnt leave her in agony so we decided to change it ourselves. Its been better since although still a little sore for her but bet its been rubbing and thats what has caused the pain.
Missed PM's endocrine (growth) appointment, we didnt even recieve a letter so was pretty pissed about that. Been waiting for months and now we have to go on the waiting list again! Also missed her Speech & Language appointment, another one we didnt know about until a letter came saying we had missed it! Really annoyed me as well.
E goes back to orthapedics in Feb to see if her knees have got any worse or better. She has to go every 6 months for that now. PM still hasnt really grown bless her, she's 20 mths old and still fits in 6-9mth clothes! Only thing growing on E is her bloated belly lol.
PM has lazy eye as well so we are awaiting an appointment to see her special optician. Hopefully it will correct it self or she might need a patch over it for a while. She might also be starting nursery in September! She's become a very cheeky madame and has started hitting E back if E hits her!
Apart from that everything has been pretty good. Looking forward to the warmer weather when we can get out more and do things! Oh and MrD has finally started his driving lessons, so hopefully maybe by Christmas we might be driving ourselves rather than relying on Grandad! Yaaay.

Still Going Well!

Girls had clinic again recently. E has gained yet another kilo in just 6 weeks, so proud of her. Dr/Dietitian suggested cutting down on her overnight feeds now to see if she gets more interest in food, doubt it will happen but we shall see. She was on 800mls overnight but slowly cutting it down, now on 750mls and soon will change it to 700mls. All her levels where pretty good, KCL has gone up an extra ml but her Cystine level was excellent, below 1 which is the lowest it has ever been! She still has quite a bloated stomach but they've investigated it enough and just think its full of air. She is 3 on Oct 22nd :D Cant believe how fast the time has gone.
PM is also doing good, her Cystine level was also below 1 which is fantastic. She's started on a new medicine called Carnitor, she isnt really growing much so they are seeing if that can help and she's been referred to Growth Clinic, she might be starting Growth Hormones a lot sooner than we all expected. She is currently 8kg and not much change in her height.
Both girls had eye clinic too a few weeks ago, E's crystals haven't gotten worse but they ha vent really gotten much better where as PM's have cleared up a little which is also excellent news! Back in 6mths for eye review and got a 6 week break again from clinic which is always a good sign.
We where all due Flu Jabs last week but we've all been full of cold so they had to be cancelled, hopefully get booked in next week for them. Last thing I want is girls in hospital again, last year they had a viral infection which put both of them into hospital at the same time. They got to share a room together (quarantine) for about a week haha. Drs recommend they have it and I got flu last year when they where poorly and don't want it again, it was awful!
We all had a fab time in Wales for our holiday, girls really enjoyed going to new places everyday and as usual E loved the beach.
E's speech is getting loads better, she can count to 20 now and loves to sing. She's a right little Drama Queen. No words from PM yet but she's trying to walk and she loves eating. She's on her new milk now and tolerated the change really well, she gets almost 700mls a night.
We have another appt in November for E to see the surgeon that did her Fundo/G tube op, think he's interested in her bloated belly and wants a look. Well that's about it for now!
Just glad to post some Good News.

Going Well!

Not to jinx anything but the girls where at clinic recently and the results where fab! E has gained another kilo in 4 weeks and now weighs 26lb 10oz, she's also grown a few cms. PM's results weren't the best, weighs 17lb 9oz so hasn't gained much and has apparently shrunk. Bloods where good, PM's KCL needed reducing by 1ml so thats good an no chances for E except being started on the Domperidone again for her bloating.
PM has done fab with her G tube, it recently got changed into a mic Key button and is doing good. It was really badly over granulated at 1st but the Community Nurses have been coming by every few days and using Silver Nitrate on it, its cleared up so much and looks good now. When changing her over to the button PM was fast asleep and only woke once to see what was going on! I was very impressed she slept through it all, she's one brave sweetheart that's for sure.
We're off on our 1st ever family holiday next month, I'm dreading it in some ways as I'm scared I'll forget meds or their machines or milk. Don't fancy getting all the way there and realising, that wouldn't be good haha.
PM is crawling and standing up unaided, also walks if you hold her hands. She got her 1st pair of shoes a few weeks ago and they are super cute, know she had grown a little because she finally could wear shoes!
E's growth spurt is fab news though, this time last year she had just reached 20lb so gaining 6lb in 12 mths is pretty good for her, I think anyway. PM loves her food unlike her sister, she eats baby food and finger foods so I'm quite surprised she hasn't gained more weight but next month they are changing her onto a milk with more calories in to see if that helps. Dr said if not much improvement in 12 mths with her growth they are going to consider Growth Hormones.
Next appt isn't for 6 weeks now which is also a plus and a good sign. Keep gaining weight and growing my gorgeous girls, mummy is super proud of you both :)

Brave Girl.

Well PM has finally had her fundoplication/G tube operation. She was in hospital for exactly 7 days and coped so well with it! She was amazing. Even when placed into isolation as she had diarrhea, she just seem to bounce back so well after such a big op. I'm so proud of her!
There was no complications and the operation took about 3 and a half hours. Very pleased with how it went and she had the same surgeon that did E's which was even better. Cant say I didn't cry when they put her to sleep using the gas because I did! She fought so hard bless her and even when half asleep was still fighting against it. She's been home since Monday and is loving baby food, even E seems to have finally developed an appetite after another few mths of not eating anything.
E is currently on the waiting list to see an orthopaedic Dr as she has knock knees and at her next clinic appt we think she might get an x ray as her tummy looks quite swollen and they want to make sure everything is ok with it. They had clinic last mth and E had gained a whole kilo in 1 mth! Was very surprised as she hadn't been eating but very pleased and even PM had gained a bit of weight :D
E is still loving nursery, she loves it even more as grandad normally takes her and brings her home. I'm sure she loves grandad more than she loves mummy & daddy haha. We went to the beach a few weeks ago for the day, the girls had a fab time and got spoiled rotten. Hoping to go again next week before the Summer holidays kick in! Then we want to go to the sea life centre at some point, the girls would totally be fascinated with that. They both love animals.
PM had a fantastic 1st birthday and was spoiled rotten, her cake was so beautiful to, mmmmm. Cake :p Its almost been a year now since PM herself was diagnosed! She's now crawling, standing up with help and trying to say words. She's a clever little munchkin. E's speech is also coming along amazingly, she can now count to 20, copy many animal sounds and probably say about 50 words if not more. She went on the donkey ride at the beach and LOVED it, she didn't want to come off even after 2 go's. She must have gone on every kid ride possibly and even went in the sea with mummy. PM loved playing in the sand. It was a really nice day out, cant wait to go again :)
So think that's it really, no meds have been changed recently which is fab news but we have clinic next week so that might change yet but hopefully not. In 6-8 weeks PM will have her tube changed into a mic Key button like E's which is so much easier and better and wont get in the way when she's trying to crawl. Next week she has some stitches out and another blood test, she had one every day while in the hospital poor baby. Her hands are so bruised its horrible. The nurses and Dr's loved her, everyone kept saying how beautiful she was :D We knew most of them from when E was in as she was on the same ward so was quite nice to see them again and we gave them a card and 2 boxes of chocolates when leaving as a Thank You as they where fab. So lucky to get such nice renal Dr's and nurses.