Saturday 14 June 2014

Where We are Now

I cannot believe it has been a year since I last posted. It has been unbelievably busy for us. I will start with Miss S, because, believe it or not, her story is shorter.
Miss S started nursery school this year and just blossomed. We enrolled her in dance class (twice) and now soccer, and she is a totally different kid.
She has changed so much. Suddenly she is her own little (and very opinionated) person. She loves her friends and her teachers, and she is beyond excited to go to kindergarten in the fall.
She can read easy books, write her name, and can write many other words (with prompts). She knows her numbers, shapes and colours...she is so bright. I am so proud of her.
Except for her new found attitude. That I could do without.
People talked about the "terrible twos" and I laughed. I had a lovely two year old! She was so easy!
Once 3 1/2 hit, she became a different child. Opinionated (stubborn) is being kind. She can be a royal pain sometimes. I can only hope that as we get closer to four, that these "trying threes" (they should be the tequila threes, as in you need tequila to deal).
She loves her family and friends. She is all about spending time outdoors and keeping busy. She LOVES Frozen, anything Princess, Doc McStuffins and Sherif Callie.
She loves to read and write and learn about the world.
When she is not driving me up the wall, she is amazing me. She is a fabulous big sister (and a bit of a pain for a little sister) and I cannot wait to see what kindergarten has in store for her.

Mr M is the reason my posts have been few and far between.
For one, he has only been sleeping through the night for about a week. And he isn't really sleeping through most nights, but only having a brief waking where I do not have to nurse or rock him (but do have to sit in the room), is WAY better than the 14m prior to this breakthrough. He is not happy about it. Too bad for him.
He and I have also been diagnosed with Neurofibromatosis type 1(NF), which is a genetic and neurological disorder which causes tumours to grow on the nerves. It can be very serious, or so mild you go undiagnosed. It can be a sporadic mutation, which happened to me, or it can be genetically passed down via a parent, which happened to M.
I had no idea I had this condition until M was sent to a paediatrician for the bowing in his left tibia. I had requested a second opinion for our family doctor, was sent to a paediatrician, who took one look at him and sent us to Sick Kids.
3 weeks later we went to Sick Kids. They took one look and said, "Yes, we have to be concerned about this leg, and yes, you need the NF clinic."
2 weeks later (on the evening of S' nursery school Christmas Concert which I have yet to receive photos or videos of), my mom, M and I found ourselves back at Sick Kids in the NF Clinic where we found that M did indeed have NF, and I should get myself into an adult clinic ASAP. ASAP for adults means just last week.
SO, M has had special eye exams, countless doctor's appointments, and finally, physio/occupational therapy, who rushed his leg braces. I am forever grateful for his physiotherapist for getting the ball rolling for us, because Sick Kids had a loong wait time and he has been wonderful with M.
He isn't quite walking yet, but he is getting there. It was hard for him to adjust to socks, braces and shoes all at once, but Mr M is a determined little (big) fellow, and he will get there. He is thisclose. So close. Another month and I will be wondering why I was ever worried about it.
Except that I am always worried. NF can be linked to pseudarthritis, scoliosis and a whole whack of other things, but with his bowed little legs, I worry about what a break could mean for him; and we were warned that a break will likely happen at some point, and he will need surgery let's hope it happens later rather than sooner. OR, we could just hope it doesn't happen at all.
It is not all bad. We are trying to remain optimistic, because we can't raise our son to live in fear or be embarrassed by something out of his control. We tell anyone who asks, regardless of age, why he wears the braces and what they do. Note to parents, it is absolutely OK if your child asks about his legs and braces. It is not something we are ashamed of, and we hope M wont be ashamed of them either. Let your child ask questions, feel free to ask them yourself. Just be prepared for an education about NF and what it causes, because we have even met people in the healthcare profession not familiar with NF and that is not right.
1 in 3,500 babies will be born with NF. It doesn't matter gender or race, NF isn't discriminatory.
Up to 50% of children with NF will have some sort of learning disability or be on the ASD spectrum.
Signs of NF include cafe au lait spots, neurofibromas (little raised tumours/bumps), bowing of the tibia (leg).
It can cause scoliosis, pseudoarthritis, tumours on the eyes.
Parents with NF have a 50% chance of passing it on. S does not have it, M does.
Just a little education. And to be clear, I went 31 years without knowing I had NF. M has the cafe au laits and a bowed tibia (though he wears braces on both legs for a variety of reasons- minor bowing of the right tibia and to better stabilize him as he learns to walk to be the main ones). We can hope that he, like me, will live a normal, healthy life. We are getting genetic testing done so we have as much information as we can, because, quite frankly, there is not enough information out there.
Well, it's late, and I have to curl up with a cup of tea. It feels good writing this out. We've been so busy that I just need to sit and think at the computer sometimes.
No worries, I have posts on our African Adventure and the many milestones of the kiddos to share after we get through Nursery School Graduation, Grade Eight Graduation and a whole slew of parties, weddings and general summer business.

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