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!

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.