Balanced and UNbalanced translocations in chromsomes

Balanced translocations in our chromosomes apparently are actually quite common. Not everybody has them but then again, alot of people do have them and they just don't know about it because it hasn't affected them.

A balance translocation is when 2 pairs of chromosomes are involved. When we look at the two chromosomes in a balanced translocation we see that all parts of the chromosomes are there. No part of it is missing neither added. Two things can happen in a balanced translocation. Such as:

What usually happens is that a piece of one chromosome is swapped with the other chromosome.

Or one part of the chromosome is attached to another part of the chromosome.

Either way, a person with a balanced translocation usually is never affected. What affects an individual with a chromosome disorder is that there is an imbalance. It's never any good to have too much of something or to little of something. It's like a scale. The scale always has to be even.

image: genetics home reference

NOTE: The information on this blog is just something I have learnt in my time as a mother of a child with a genetic disorder. I am not a qualified doctor or therapist, etc and do not claim that I have the knowledge to be. The information is merely for my family members, close friends and other parents with similar issues looking for other families and their experiences.

Moment of realisation

As the year 2014 sets in and my growing 34 week pregnancy belly continues to grow, the reality of how another beautiful soul will soon join our family and turn our world upside down (for the better ofcourse). Something like we never expected before. Because as much as I would like to admit that I am always prepared for everything, it somehow always turns out that Im not.

I realised this morning when I was feeding Mango a bottle of milk. His eyes were closed, half asleep but just awake enough to drink down some milk, that this. This moment. This quiet peaceful one-on-one moment that we had every morning for the past 19 months will soon be gone. It wouldn't be Mama Bear and Mango anymore. There would be three of us or four if you want to include Papa Bear (except I'm sure he wont mind because he would rather me do the morning feeds). My sweet little baby, who kinda actually still is a baby. It was a bitter-sweet moment. I need to cherish every moment that I have with him in the last few weeks. Am I wrong by doing this? Will I spoil him rotten and when his little brother comes along he will feel that i am giving him less time? I want to cry in agony and smile at the same time. I don't know how to react.

I hope one day that my Mango will have the ability to understand the love I have for him. I hope one day he will grow into a man of his own and know that everyday that passes/passed till my very last breath I loved him more than the moment before...

Mango's

Today my darling baby Mango ate a mango. Yes, like a round very sweet yellow mango. A milestone that hit me so hard I didn't even see it coming. I put a nice decent square piece of it in his mouth and he chewed it till it was all mush and then swallowed. He swallowed that piece of mango without choking and dying on me.

So today, I am an extremely proud Mama Bear and I use the word extremely because I am proud of him everyday but today I just happen to be extra proud. We pretty much thought that he would be on purees all his life and the rest of my days on this earth. Puree morning, afternoon and night. BUT today showed us that it won't always probably be like that. Today, I hope, is the day that we can start thicker foods that include more mouth movements.

Today is a good day. A milestone that not many parents take for granted because it is just what is expected and unfortunately have not seen the beauty in having the ability to have mouth control.

Outside there is a bright yellow sun, shining down on our green luscious grass. A bright yellow sun just like my little asian Mango who sits in his supported chair eating square pieces of Mango from my hand.

=)  

Chromsomes

I would say I know quite a bit about chromosomes but if you asked me to explain everything I know to you, I wouldn't know what to say. I would have a mind-blank. However, I know that I have asked a few family member and few friends to join me on this journey and follow us, as I slowly but surely update a little bit about our lives when ever I get the chance. So here I go... Im going to try and explain chromosomes in the most basic and simple form as I can before I explain Mango's chromosome anomaly (abnormality).

In every human body we have cells. Cells, are what make up our body. If we were to take one cell from our body and place it under a microscope, zoom in really close we would see that so much is happening in just ONE tiny cell. In each cell we have chromosomes. In each chromosomes we have genes. These genes tell our body what to do and how to do things. (So when our child either has a duplication or a deletion in the chromosome, the doctor's tell us how much of it is missing and added. When they tell us this - they are actually telling us which part of the gene in the chromosome that is missing). 

Every person has 23 pairs of chromosomes. One copy of each chromosome from the mother and one from the father.
Mother - In a mother's 'egg' she has one copy of chromosome 1 to chromosome 22, and the 23rd chromosome being the sex chromosome, which would be an 'x' chromosome. 
Father - In a father's 'sperm' there is also only one copy of chromosome 1 to chromosome 22, and the 23rd chromosome being the sex chromosome. The sex chromosome from the father can either be an 'x'(female) or 'y'(male) chromosome. In saying this, the sex of the baby is determined from the father.

This is what two pairs of chromosomes look like (in a cartoon kinda way): 

Example

Asking yourself what your looking at? I asked myself the same thing... 

Every copy of a chromosome has one short arm (p arm), a centromere and  one long arm (q arm). This means every pair of chromosomes have two short arms (p arm) and two long arms(q arm).

So, you see the dark shade of purple labeled 'P'? This is what scientist and everyone else call's the 'P arm' OR 'the short arm'. The lighter shade of purpler labeled 'q'  is either called the 'q arm' OR 'the long arm'. The yellow circle in the middle is called a 'centromere' which acts like the body part of the chromosomes holding the two arms (p arm and q arm) together. The centromere is the centre part of the chromosome but this doesn't mean it is always the centre of the chromosome when speaking about the length of it. Then there is an outline, outlining the entire chromosome which is called a 'telomere' and this keeps the entire chromosome together. 

The genes inside the chromosome are identified by using a special type of dye that defines their differences. Each part of the chromosome will be affected differently when the dye comes into contact with them. By this happening it identifies certain 'G-bands' within the chromosome which are labeled by numbers. The smallest number starting from the centromere to the largest number ending at the end of the arm furthest from the centromere. 

Something like this:

Chromo 18.org

I'm pretty sure I haven't covered all of the facts about chromosomes but I think it's most of the things that you need to know about Mango's chromosome anomaly.

Fact: In saying all that I have said. I would like to add one last thing to this short post. I found particularly interesting even though it meant nothing. Each chromosome is a certain size. The largest of the chromosome being chromosome no.1 to the smallest chromosome being chromosome no.22. 

Thanks,
xx


NOTE: The information on this blog is just something I have learnt in my time as a mother of a child with a genetic disorder. I am not a qualified doctor or therapist, etc and do not claim that I have the knowledge to be. The information is merely for my family members, close friends and other parents with similar issues looking for other families and their experiences.

Chromosome 14 and Chromosome 18

Chromosome 14 and Chromosome 18 are Mango's affected chromosomes.

There.

I said it.

Finally.

I'm not sure why I kept the chromosome numbers a secret the past year. I was mostly worried about me telling people the chromosomes involved and they would search it up on the internet the same way I did. Find all the information that I found and freak out. Like I did. I also had a small hole in my heart worried about how people would look at Mango after they knew what they did. So many other small reasons, like I was trying to protect him from the worst. I think now, I was trying to protect myself. Protect myself from opening up the wounds that haven't really healed. The wounds that probably will never really heal but only close with a thin layer of skin.

When we received the diagnosis for Mango, the geneticist couldn't have stressed more, that we should not search online. Ofcourse, that's exactly what I did as soon as we got home. I can't say exactly that it was a bad thing or a very good thing but it was definitely more good than bad. I shocked myself with all the pictures I saw and all the things I read but in time I came to accept that, that could be the worst and I would have to live with it somehow or another. Everything I read or learnt something that had something to do with Mango's chromosomes, I would share with my husband. I feel like I was trying to peel our hearts open layer by layer just to torture myself so my husband and I would stop feeling emotions. The more it hurt to read, the more times I would reread and reread what I didn't want to read anymore. In time we came to accept it all somehow, ready for everything we had learnt.

I would also like to share with you, everything I have learnt about Mango's unbalanced translocation.



P.S. Thank you from the bottom of my heart for sharing this milestone with me in opening up about Mango's chromosome numbers. It's taken more than a while to come this far and I am very glad that I have finally gotten this off my chest. Most of all, thanks for putting up with all the ranting...

Keep in touch!

Sydney has been HOT. Like extremely hot. From bushfires to strong winds blowing down trees and sweat raining from your body. Pregnancy isn't helping much when hot weather plus hot body come together, it turns out to be a disaster, my clothes have patches everywhere before I even step out of my house. I used to say I really enjoy the hot weather but now I'm starting to think that maybe, I dont like the hot so much after all.

Apart from the heat, we have been on the go non-stop. We bought a new family car (Kia sportage) and I new double pram (bugaboo donkey), which we will be getting a specialised insert for Mango to help support him. Our round of '6 month follow up appointments' have come and gone, thank god. Our paediatrician was very happy to see Mango making more noises and now weight bearing, although she thinks he may never be able to walk or talk. It has taken a while for us to get used to the fact that mango may always be non-verbal and never physically active. All is well now though. Ortho Doc gave us an all good with his feet, even though he did think that his ankle bone was a bit high still but nonetheless very nicely shaped and bones all in the right place.

Mango is growing up slowly. I feel extremely proud to be his mother and I feel the need to show him off to the world every minute of the day. He makes things so much easier to deal with because of his cheeriness and his ability to make you smile and remind you that everything isn't as bad as it always seems. There have been tough days these past few months, struggling to be ontop of everything and getting rounder everyday but mango's ability 'nothing' as the doctors like to put it, has the ability to make everything better. I have no doubt that he will conquer mountain pathways and climb hills during his journey whether it be in a wheelchair that he is being pushed around in or his on his two feet.

Everywhere we go, people fall inlove with the solider that he is. His changing people and the way they see things without even doing anything except being himself.


Sorry, I haven't been around. I hope to be back real soon!

What car now?

So on our journey to become a family of four.. now still a family of 2 and half + ofcourse the one meatball that is in my belly rolling around. We felt the need to look for a new car. What car? One with a big boot.

See the problem is, we have a pram (a VERY. BIG. BEAUTIFUL. BLACK. pram) that can just fit in our boot. (We have a hatchback by the way). Which means no room for shopping or another seat. We also have coming our way, very soon, a stroller. A specialised stroller to fit Mango's needs. Things like head support, back support, leg support and all the other types of support you need when your 14 month old cant even roll around yet. So yeah. What I thought was a 15kg stroller turned out to be a 20kg stroller. My tail bone and back muscles are already aching just as the thought races through my mind. Our current pram is about 11 - 12 kg according to size, folds quite compact. I think. hehehe

So the conclusion was that if we are going to have two babies in a stroller, there is absolutely no way that it will fit in our car unless its on the roof (and that is not an option so don't even start to think why I can't do it myself).

It kinda sad though... you know. It was my first car... well one that I called my own that actually belonged to my husband which I claimed as my own.. uuummm no judging.

This car has been through it all with us.

Speaking of double prams. We need to start looking for a double pram that we can customise one of the seats. The stress that has come along with it, is just about as much stress as wondering if buying a new car is really worth it or not.

So I think an SUV is an option now. An SUV with a BIG boot space. 

I think it's time for me to get off the laptop. I can feel the little meatball kicking at the laptop. Probably a sign that I should be eating or something....

This is me.. the next 10 minutes...