Hello. Thought I'd give everyone an update as havent since August! Girls are doing well at the moment but I know this can change at any minute. E has gained some weight & finally has reached over 20lb!! I was so pleased, she hasn't been 20lbs since just after her 1st birthday so was a very massive milestone :) She now finally has her Mickey Button in to, that was done about 2 weeks ago now & it's going good. She doesn't have much of an appetite again and hardly eats anything but that also changes from time to time. She now is fully walking to, which I am so proud to see. It brings tears to my eyes, I know that probably sounds strange but with all the struggles she has been through with the rickets and what not it is truly amazing!
P hasn't really changed, she has gained some weight but really slowly and the Dr's aren't too happy with it. They have said there is a 99% she will also have the operation for the button like E did but not until she gets a bit bigger & gains more weight. She still has her nasal tube in, when she isn't pulling it out! She still gets dehydrated alot to and she is a very clingy baby lol.
P is on ranitidine & the Cystagon still and nothing else at the moment. E is on 8 meds still to, inc the eye drops. They will both be due there 6 monthly eye check ups soon, really hope P doesn't get the crystals early like E as she'll have to eye drops to!
Hopefully things will keep going well now, got all our fingers crossed :)

Sad News.

Feeling quite sad today as read some bad news. A man in the US died of Cystinosis recently, he was only 25. It was really heartbreaking to read as I started to think about my girls and how it would kill me so much if either of them died before me! I couldn't bare it and started to cry.
These girls are my everything!
I have good days & bad. Some days I don't let it bother me & just get on with it & others I can hardly function as my head is swarming with all sorts.
P's doing well with her Nasal tube though, seems to be feeding much better to since we changed the teats to a size 2. She's not due back to clinic for 3 weeks :) E went yesterday for her clinic appointment and they are really pleased as she is growing & gaining weight. She now weighs 20lb 1oz and is 76.2cm! Since her operation she has been eating more, she was 2 Weetabix in the morning and normally always eats it all. Then a stage 2 jar for lunch & dinner and sometimes a few yogurts or ice cream. I'm really proud of them both.
I am excited though that there could be a meeting soon (in 2011) in the UK for people to meet up with other people who have Cystinosis or their children do. It will be fab & I know it will benefit us loads!
We've been doing well recently with the meds, finally got ourselves into a better routine with the eye drops & Cystagon. Both girls having it every 6 hours now like they should and E's drops every 2 hours. E now has 5mls of Cystagon and we've to put it up an extra ml every week until she is on 10ml which is basically 1 tablet of Cystagon (50mg) every 6 hours. P is on 2mls, no plans to raise hers yet as she still a sicky baby, even on the Ranitidine. So thankful P doesn't need the eye drops yet to, doing 1 is bad enough!
E's been having her over-granulation sorted. Community Nurse came the other day and put some Silver Nitrate on it. It seems to have helped a bit but there's still a bit left so we're hoping the cream will keep helping rather than having to use the Silver Nitrate again. She's also been started on Sodium Bicarb, 5.6mls twice a day. Cant remember if I wrote it down last time I blogged.
Some days I feel so depressed but then I just think about what my 2 Princesses must be going through and then I realise I have no right to feel that way really, its them going through the constant change in medicines, the blood tests, the tubes, the sickness etc etc.
Luckily E hasn't been sick since her Fundo operation so that's a big improvement for her & us.
I know not many people follow this blog & I have no idea how many actually read it but if you could just spare a £1 (maybe more if you're feeling grateful & generous lol) and donate it to the Cystinosis Foundation (UK), Me & my daughters would be eternally grateful. They only have funding through donations and without donations they cannot fund research into new drugs and HOPEFULLY one day soon a cure ...
I don't want this horrible disease to claim anymore lives. I hate IT with a passion. Wish I could take it from my girls - they don't deserve all this. They haven't even had chance to experience life. No one deserves it in fact ... horrible, nasty thing :'(
R.I.P Preston Towriss & everyone else who has lost their life to Cystinosis. You are always in my thoughts as are your family ...

P's nasal tube.

Well P now has her nasal tube in to. She had to be in hospital for 3 days. She still doesn't drink much milk and we cant feed her too much by the tube as it makes her sick. She had her eye test on Tuesday and luckily there isn't any crystals forming yet so eye drops aren't needed, she has to go back in 6 months to be re-tested. The Drs thinking of starting her on Ranitidine soon as she vomits quite a lot.
E's also been started on another med recently, bringing the daily total to 8. Sodium Bicarb needed twice a day at 5.6mls. Her G tube is doing well except she has bad over-granulation on it so got some cream yesterday for that. If it hasn't helped in a few days they will probs freeze it off! The fundo has worked fab, she hasn't been sick since having it done so really pleased with that.
It's likely P will need a Gastrostomy to but it wont be until she is bigger & weighs maybe, maybe about 6-8 months if she puts on weight now and starts growing lol. She 12 weeks old :) Still in 0-3 months clothing bless her.
We might get some good news one day ... lol.
Before & after pics :)

Ugh.

Well today we took E & P to the hospital. It was an appt just for E to have some bloods taken but it turned into much more. We arrived a few minutes before 12 and E's usual Dr saw us waiting and we all got talking. We started to mention about P not gaining much weight and last 6-8 hours on just 2-4oz of milk and they agreed it wasn't right. They weighed her (10lb 8oz)and also noticed she hadn't gained much weight. After weighing she also had some bloods taken which she wasn't pleased about. Then the dietitian, us & the Dr agreed P having a nasal tube would benefit her and was needed :(
She goes in on Wednesday to have it put down and will have to be in for a few days to see of she tolerates it. Luckily we wont be in a week like we where with E's as we know how to work the pumps, unless she doesn't tolerate it.
I was so gutted but know it will be for the best before her weight starts to decline rapidly like E's did.

Meds etc.

Princess E's current meds are -
4ml of Cystagon every 6 hours.
Eye drops called Cysteamine every 2 hours while awake.
10 drops of Alfacalcidol in water once a day.
3 Phosphate Sandoz tablets 3 times a day diluted in water.
3mls of Ranitdine twice a day.
4mls of Potassium Chloride 3 times a day.
2mls of Potassium Citrate 3 times a day.

At night when E falls asleep she is then hooked up to a milk feed. Taking 500mls at a rate of 70mls an hour. During the night she also has 2-3 beakers of water in her cot which are refilled up to 3 times as she drinks loads. During the day the water intake is the same.

G-Tube.

Princess E has been in hospital over the past 9 days, she finally came home yesterday after having her nasal tube removed and a G tube fitted & a fundo put in place (means she can never vomit). She went down at 9am and didn't return until half 2,longest hours of my life. She was meant to only be in for 7 days but her tummy got quite swollen so feeding was delayed. The hospital stay wasn't too bad, daddy stayed most nights as I was looking after baby P but I stayed a few nights. She had bloods taken almost every day which broke my heart, within a few days of getting there she hated anyone who came near her and would throw a massive tantrum. Broke my heart. Many times I just wanted to take her home!
She is very happy to be home, she loved being back in her own cot last night & has enjoyed being back with lil sis and playing with all her toys & watching Playhouse Disney. The house hasn't been the same without her, far too quiet! Glad she is home now though.

Bad News.

I'm feeling so numb right now. My heart is aching, my eyes hurt from crying. Poppy-Mae has just been diagnosed with Cystinosis.
I'm devastated. Gutted. Heartbroken. Angry and a million other things.I've gone here to vent and whatever else comes out. After losing my placenta they took bloods from P last week. We received a call this afternoon to clarify she does have it. Her level is alot higher than what Emily's was but at least they have caught it early and they started her on the Cystagon today - 1ml once a day then slowly build it up over a few weeks.
I'm so angry with the World right now. I HATE it! I was hoping she wouldn't have it although her dad was convinced she did, he was right. They took bloods again today to check her Electrolyte levels and to start supplements if needed but they doubt she'll need any yet as she is only 7 & a half weeks old. They want her & E at clinic next week for more bloods again. I'll have to get braver now, I always go out the room when bloods are taken but I best get use to it as its going to be a regular occurrence for them both. I just .. I cant think about anything else right now! 1 in 4chance and she gets it. I swear our family has just been cursed since me & Darren got together. I keep thinking I'm going to wake anytime soon and realise the past 3 years have just been so extremely long bad dream.
I wouldn't change my girls for the World though. They are so special to me and this just makes them extra special. In a way at least they can find comfort in each other when they are older as they'll both know and understand how the other one is feeling. Health Visitor is giving us loads of support thankfully as are other people and luckily I have quite a few people on Facebook who know what we are going through.
I really am heartbroken. I feel so sick to.
But ... long as my girls keep smiling I'll smile with them!

Eye Test.

Well today E had to have another eye test, every few months she needs them now. So she's due back in 2 months.
I stayed at home with Baby P while Darren took her, her appt was at 8:45 and we wouldn't have all been ready before 8am when his dad came to take her, she didn't even get chance to have any breakfast until she got home lol.
I thought they would have been ages as last time we where at the hospital for 3 hrs, they where so understaffed and missing equipment it was a joke! But they returned home just after half 9 :)
E still has the crystals in her eyes, they haven't got worse but it hasn't improved either unfortunately. The optician reminded us to keep up with her drops because if we don't she will go blind & he said at this age if she went blind they wouldn't be able to do anything about it :( We manage the drops at least once a day even though they should be done every few hrs, unfortunately it's still a bit hectic here with a 5 week old baby to look after to and it takes the 2 of us to do E's drops as she doesn't like them and fights it. Now the baby is sleeping more & more settled on her new milk we should be able to do them when they are needed.
The last I thing I want is my beautiful Princess going blind! She's been through far too much already.
Still no results on P yet either... E's due back at hospital at the end of July so if we haven't had any by then we'll ask her Doctor to do a test on P instead. I just hate waiting. I lie in bed every night worrying about it!
I'm meeting some fab people through Facebook though who also have been affected by Cystinosis and I find them a big help. They know EXACTLY what I'm going through and it's comforting :) I hope to meet some of them at some point, esp the ones with children so E can meet all the other special little boys & girls like her.

Things are going ok.

Well E was at hospital again recently for her check up and her levels to be checked. She has grown a little again & gained a bit more weight, her Dr is really pleased with her lately and so are we. She's coming along in leaps & bounds at times and its fab!
They have upped her Potassium now to 4mls instead of 3mls. Her phosphate has gone from tablets to 2 thankfully and her drops for her bones have increased from 4 to 8! She is getting loads stronger on her legs and will even walk now if you have hold of just one of her hands, she still cant stand for too long on her own and only a few mins if someone is holding on bless her. She still drinks loads of water during the day and can now say Ta really well. She is going through terrible 2's though I'm sure! The tantrums & screaming are amazing.
She loves her baby sister who is now 19 days old :) Still no results on whether she has Cystinosis but they did say it could take up to 6-8 weeks. Her dad thinks she does have it but I'm not sure, I don't even like to think about it and will cry either way.
E is back at hosp on the 22nd for more bloods just to check the change of dosages is working and if anything else needs changing. Hopefully not but we never know until the results are in.
Picture is E having her meds, thanks to Daddy!

A few steps backwards...

Just a small post to update really.
We had to take the Little Princess to hospital the other day. After a few days of being sick on literally everything she ate or drank her Dr told us to bring her in. So off we trundled. They weighed her, took her BP and took more blood. Everything came back fine. I wasn't pleased she had lost weight again, she's meant to be gaining now not losing. They didn't need to change any of her meds or give her anything else so after 3 hours of waiting around we where sent home and just told to let her drink plenty of water which we do anyway as it's the only thing she will drink.
I sat at home, wondering why she was being sick again all of a sudden after weeks of doing so well. Was it the rice pudding we tried? Was it the cows milk? It couldn't be the yogurts as she was never sick on them in the 1st place and she'd happily eat a million a day if she could.
Then it hit me. At her last appointment they had given her Sytron again, before she had Sodium Chloride (not sure if the dr wrote it on the prescription by accident or not) and it never bothered her. It wasn't until I noticed she was back on the Sytron that she had started to be sick again. I mentioned this to her Dad. He didnt think it was that, he thought it was the rice pudding that had given her a dodgy tummy or her Cystagon. I suggested we stop using the Sytron for a day to see how it went and low and behold she wasn't sick! She has been off it for 2 days now and today she hasn't been sick at all! When we go back to see her specialist I'll have to let them know and see if there is anything else she can have instead to replace it that wont make her sick. She's at the hospital this week so we can talk to the surgeon about the operation to have the button sorted for her tummy and an acid reflux thing that should help her when she is poorly to not be sick, the slightest cough makes her throw up!
I'm hoping we wont have to wait months for the operation date, Ive spoken to a few parents who have said their child has thrived after having the button inserted into the tummy and it really would do Princess some good. She's just a bag of bones lately and its heartbreaking. Seems some weeks she does fab and then others its back to square one. Its going to be a very long, uphill battle is this but I know she can do it. She's one brave, strong, amazing little girl and has coped so well. Better than me at times haha.
She's a super star ^_^

Some Good News!

Well E had her Renal appointment on Tuesday. We weren't expecting much to be honest, just to make sure blood levels where still ok and that her meds where working and that they didn't need adjusting.
They weighed her ... 18lb 10oz! A whole 1lb gain in just 2 weeks!! I couldn't believe it. I think letting her have her yogurts again might be helping that, she loves yogurt. Then they measured her ... 74cms! She had grown 2cms in a fortnight. Someone had stuck her in a grow bag for sure.
Mummy & Daddy where VERY pleased. Dietitian was happy and Dr was happy. Everyone was happy! Even E who usually gets so restless and clingy at these appointments was quite happily playing on the floor and crawling around and smiling. Someone surely had switched my daughter heehee. We missed the call from the Speech Therapist unfortunately so called her back today to arrange an appointment, I'm really hoping it does help with her eating more solid food as she really wants to. She steals it off your plate now lol.
The Dr doesn't want her back for another 4 weeks, which I was surprised at but she was really pleased with E's progress and said unless the bloods she had taken come back with low levels of something she doesn't really need to see her :) By the time she goes back she'll be a big sister & I'll be a mummy to 2 beautiful Princesses!
She's back at hospital though May 26th to see a different Dr about having the Mickey Button in her tummy rather than the nasal tube, have heard it makes a huge difference and alot easier to manage so will be loads better as her nasal tube keeps coming out what with all the cough/colds she gets bless her. Community Nurses are fab though and usually turn up in 2/3 hrs to put her in a new one, which she absolutely hates but I always give her MILLIONS of hugs & kisses afterwards and sometimes she falls asleep on me.
She's been through so much in the past 9ish months and she's so brave. I'm so proud she's my daughter! Glad she is finally gaining some weight after losing so much, she'll be my Little Chunky Monkey again in no time if she carries on gaining 1lb every fortnight :p Here's a recent piccie of her without her tube and with a cheeky look on her face as usual lol.

The Story So Far.

A lot of you know that my 18 month old daughter has recently been diagnosed with a rare disease known as Cystinosis. So Ive decided to create a new blog just on Cystinosis, IE how we're coping, whats happening with meds etc etc.
It was 100% confirmed after an eye test that she does have it after they found the crystals forming behind her eyes. They started her eye drops straight away. Let me tell you, it is NOT easy giving an 18 month old eye drops every 2 hours 6 times a day and I'm just so glad her dad is at home to help, he has to hold her down while I drop in the drops. She hates them bless her. Soon as she sees the bottle she knows whats coming and starts to get upset. Hopefully soon though when she gets a bit more used to it she wont be so bad, she has to be on these for life so the sooner she gets used to them the better really and the easier it will be for her when she gets older.
She is on 7 medicines a day now. Most of them she has to have 3 times a day but they are fairly easily as they go down her feeding tube. She still hasn't gained any weight but I blame her recent bad cold and cough for that as she couldn't keep much of anything down due to coughing so much. The dietitians have now taken her off the milk/soya free diet so she has been enjoying yogurts again, she loves them and I think she really missed eating them. Just going slowly with that though at the moment, in a few days we'll see how she manages with cows milk on her weetabix instead of the Pepti Junior.
She will be 18 months old tomorrow. She seems like a "normal" toddler and is a very happy little girl. She cant yet walk or speak though or eat properly. We're waiting for her speech therapy appointment to come through, the doctors have said this can help with her eating solids. I really hope it does as she is so desperate to eat stuff like that, she now comes over to your plates and steals things off it to try even though she knows if she bites anything off it she will more than likely choke so we're extra careful now.
It cant be easy for her. My heart breaks everyday when we're pumping drugs into her all the time or she's had a really bad messy nappy due to the phosphate medicine or if she's just not happy or when she wakes drenched in wee no matter how often we change her nappies due to the amount of water she has to drink.
If I had just 1 wish it would be to take all this away from her. She's bound to be in pain due to the rickets this disease has caused and the medicines working to get her bones stronger. I often dream about her 1st proper outing with us when she is walking, I will be so excited!
She has a hospital appointment tomorrow, we have to go weekly at the moment, so no doubt they will take more bloods which she also hates. Sometimes she comes home covered in little bruises on her feet/hands/arms as they aren't always able to get a good vain on her. It's horrible.
She was started on a new medicine last week along with the eye drops and it makes her smell a little funny, she will probably hate that when she is older. Me & her dad have sent off forms to join the Cystinosis Research Foundation(UK)so we can be kept updated on new medicines or even if a possible cure has been discovered.
We live in hope - along with the 2000 or so people in the World who have this disease - that something is discovered soon.