Our beautiful niece Rebekah turned 15 on Friday. I cannot believe she is 15. Rebekah was the first of the grandkids to be born and I still remember exactly where I was when she was born. She has grown up to be a lovely young woman and I am so proud of her. Of course when I close my eyes, I still picture her just like this. Bek is the eldest little girl - the one with all the blonde hair. Adorable isn't she!
Bek's life isn't as easy as many other 15 year olds. Rebekah was diagnosed with the genetic disease cystic fibrosis when she was around 4 weeks old. It got picked up in the heel prick test all babies have. Cystic fibrosis is the most common fatal recessive genetic disease that there is. In Australia, 70 children every year are born with CF (just under 1 in 2500 births). Approximately 1 in 25 people carry the gene for cystic fibrosis, many of whom are unaware that they are carriers. It is more common in caucasians, and in some countries, like Ireland, around 1 in 13 people are carriers of CF. CF is an autosomal recessive disease, which means you have to get a faulty gene from both parents to have the disease. If you have one good gene, and one faulty gene, you are a carrier. My sister Amie and her husband Eldon are both carriers of CF. They had no idea until Rebekah was born and diagnosed with CF.
People with CF have a defect in a gene that produces a protein that transports chloride ions in and out of cells. This causes many problems with the normal functioning of cells - but it is predominately the lungs and the pancreas that bear the brunt of the disease. Bek has had to have physio every day of her life on her lungs to try and prevent damage. Everytime she gets a cold, she pretty much needs antibiotics, as her respiratory system is the perfect environment for bacteria to grow. Bacteria that are harmless to people without CF can cause severe lung infections that could lead to serious problems in lung function to those like Bek. Bek's mum Amie knows more about the myocin family of antibiotics than I think most GPs would! Beks lungs are still pretty good, thanks in a large degree to Amie. Most CF patients eventually need a lung transplant and lungs suitable for transplants are even more rare than hearts. Makes you think twice about your organ donor status, doesn't it.
Bek also can't digest fats. While most of us would love to have this problem, you have to remember that this means she can't digest all those essential fatty acids that our bodies really need, and she also can't digest fat soluble vitamins like A,D and E (I am sure there is more of them, I just can't remember them off the top of my head).
As if all of this isn't enough, Bek was diagnosed recently with juvenile diabetes, which means she now has to have needles and insulin everyday. And it causes some really complicated dietary issues having both diseases. That is alot for one 15 year old to deal with.
Bek is a wonderfully optimistic young lady. She faces many challenges everyday that no one else knows about and greets them cheerfully. She rarely complains about the limitations her body provides her. Bek is an incredibly bright young woman, with a wonderful capacity to think about and care for others (kind of reminds me of her Mum). She can crochet like a pro (leaves me for dead I have to admit) and is very interested in learning to sew. So for her birthday, I made her a few dresses.
This one is an oldie but a goodie from an out of print Simplicity pattern. I love this pattern. I made it for Bek a couple of years ago and was recently informed by her sister Hannah (with alot of eye rolling) that she ears it all the time and could use another!
I love the pintucks at the front. I also wanted to give her a sewing pattern that would be easy for her to sew. This Modkid one looked perfect - designed for tweens and with no tricky necklines or zippers. It is from the new line of patterns and is called Hailey. I wanted her to see what it looked like all sewn up, so I made this for her as well.
All in all, a good little bundle I think.
And seeing as I know she is one of the few people who reads this blog, Happy Birthday Bek. You have brought lots of joy into our lives and we are so proud of you. Stay happy and positive about the future and remember that we live in a day of medical miracles. All it is going to take is one seemingly tiny discovery by some clever white coated research scientist to improve your quality of life dramatically and I know that discovery will come!
We love you lots Bek!
Marnie
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