Thursday 10th February - The condition of my condition

Mummy sometimes finds that having access to the internet is sometimes hard because there is lots of Zwellwegers Syndrome information reminding her that there is no cure for me. Even though I think sometimes she pretends that there might just be. But also there isn’t a standard course of treatment. It warns that infections should be guarded against to prevent such complications as pneumonia and respiratory distress and that the prognosis for individuals with Zellweger syndrome is poor. The fact that ‘Death usually occurs by 6 months of age’ is starting to haunt her and daddy a lot. I am 5 months and 1 week on Saturday.

Another quiet day, I am looking more like my usual self but the Doctors still came to check up on me. I’m now back on normal milk thankfully and keeping it down.

The Doctor had a good feel of my tummy, which for the first time in ages isn’t bloated but shows my enlarged liver and possibly my spleen. These things can be enlarged whilst still doing their job but it is my heart Mummy is concerned about. The doctor agreed to do an ultrasound scan just to understand what is happening, not that if there was a problem there could be anything done but Mummy and Daddy are hungry for information about my condition and need to understand exactly how it is manifesting so they can check that I am not in pain.

I’m a not just a ‘patient’ I am an ‘example’, that is almost what I have become, a statistic, a real live example of  Zellwegger’s, a once in a doctor's career example. I’m surprised they don’t take more photographs. I’m, unique here folks, look and see what’s happening to me, look at how I’m dying, me and other babies and children because of this disease. There doesn’t seem to be any answers just how to make us all more comfortable and that’s the rubbish bit about it all.

Another Zellwegger’s baby died this last week. This Little Chap was called Jonah. He has taken on a new job as an angel; Mummy sends love to his family, because she knows what they know. She knows their sadness because it is our sadness.

I guess some of you get uncomfortable with some of the heavy stuff, but Mummy says that it has to be said sometimes, she says a trouble shared is a trouble halved and by sharing with you that helps us.

So on a lighter note, Annie has brought some posters to launch Wear it Purple which has been set for the 1^st of March. (Thank you Dave for sorting the copy out so quickly) If any one would like to join in for ‘Wear it Purple’ we can send you a copy of the poster to print out.

She mentioned to Mummy and Daddy to watch a cooking campervan man on the tele. His van is like ours but it’s painted and shiny with a kitchen. I think Daddy needs to pop and see Gertie now to see how she is coping all left alone. Mummy said she is really sad I will never get to go for a ride in her and at this rate she wonders if even Daddy and she ever will either!

I am like the princess and the pea tonight, I’m up as high as a can be on my mattress to see if it helps me manage my milk and secretions. I’m sort of attached on a hammock shaped blanket to stop me sliding down the bed! I am sleeping well, but just waiting for Emma to help with my bath but the ward is very busy tonight. It started getting busy last night and Mummy and Daddy knew the family next door to me. Luckily they got a yellow smiley face on the big white board and got to go home. We blow kisses to their precious little boy, very tiny (half the size of big chunky me!) due to patient confidentiality I can’t say who it was but you know who, hope you have a peaceful night. ;-)