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.