Sam is doing great - his new drain is working well, but he hates me coming near it to empty, so lots of screaming and tantrums. At these times, I say I'll come back when he can be a good boy and let me help him.... sometimes it takes 3 or 4 attempts over an hour (I can get a lot done whilst he's sulking in his cot!) but as the days pass Sam is realising if he just gets it done he can get out of the cot!.... so now it's usually just 1 'time out' and then a little voice calling, 'ok, I'll be a good boy now Mummy' and I can drain his bladder and get on with life!
Tomorrow Sam has 2 appointments at Starship - respiratory review and then a kidney ultrasound. I'm not looking forward to the latter after his ultrasound 3 weeks ago, where it took 2 of us to hold him down as he was screaming and hitting me and begging me to make them stop.... it was the first time that I've sat there and sobbed with him as I had him in a vice like grip.... I thought it would get easier, but now he can speak and beg it's not! But it's harder on him than me, so I know I have to toughen up and just get on with it tomorrow. Hopefully the resulting ultrasound will show an improvement in his kidney since he's been draining better.
I've been doing some more reading and research and come upon a great website, from a charity that support families of rare diseases..... Below are some of their facts and they make for interesting reading - I was amazed and also not surprised by some of what I read... read on and then I'll let you in on why I've popped this info in here.
Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.
Did you know that:-
- There are approximately 7000 different types of rare diseases and disorders, with more being discovered each day.
- If all the people with rare diseases lived in one country, it would be the world's 3rd most populous country.
- In the United States, a condition is considered "rare" if it affects fewer than 200,000 people, in the United Kingdom a disease is considered rare if it affects fewer than 50,000 citizens per disease.
- 80% of rare diseases are genetic in origin and thus are present throughout a person's life even if the symptoms do not immediately appear.
- Approximately 50% of the people affected by rare diseases are children.
- 30% of children with a rare disease will not live to see their 5th Birthday.
- According to the Kakkis EveryLife Foundation, 95% of rare disease have not one single approved drug treatment.
- 350 million people globally are fighting rare diseases.
- Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.
I put the above blurb in, as it's the time of year to break out the running shoes and start preparing for the Auckland Marathon! This year is even more exciting as many in my amazing family have decided to join me - I figure they saw me do the half marathon last year and realised that as I am the biggest couch potato in the family, if I can do it so can they! So far my brother and sis'n'law from Australia; Sis'n'law from Invercargill; Sisters from Gore, Dunedin & Havelock and maybe a niece from Christchurch have registered! Some are doing the half and some the full. So the weekend of November 3 is going to be such fun up here in Auckland!
Last year I ran for Kids Foundation - the kids arm of IDFNZ (Immune Deficiency Foundation NZ). Sam doesn't have immunity issues, but as he is on TPN, his liver potentially is at high risk and IDFNZ deal with liver and kidney issues as part of their remit. For many families with a 'one in a million' rare gem, they fall between the gaps of mainstream charities. So, with great gratitude I/we (Team Sam) want to fundraise again for Kids Foundation, as a way of raising awareness of what they do and to support them, knowing that the funds will be well spent on advocacy and support. There are hundreds of great charities, but some of the smaller charities (eg Kids Foundation) don't have the same profile or celebrity endorsement of some of the bigger charities due to the fact they support 'rare diseases', yet as you see above, rare diseases affect millions of people..... So, watch this space and Team Sam will keep you posted.....