The things we do for the people we love

On some days, like today. I find it hard to come to terms with knowing that my little boy isn't just disabled. He is severely disabled. My little boy is severely disabled. He may never walk or talk and most likely, he will be wheelchair bound. He has the developmental age of a 6 month old. Mango will be 3 this June. He will be 3 years old and he is developmentally like a 6 month old. He was a 6 month old when he was 1 1/2 years old and when he was 2 year old and now when he is 3 years old. He hasn't moved. When he actually was 6 months old, he was developmentally still like a newborn baby. 

I just want to scream and pull my hair out. Not for myself but for Mango. For a boy who struggles everyday with things that we take for granted. Things that I take for granted everyday because I'm too consumed with taking care of all the things he has been disadvantaged of and things that come to us so naturally, like muscle movement or vision or hearing. 

I am also scared. I'm scared for me. I'm scared that my life will be too short or if I will get a terminal illness that takes away my ability to take care of my children. I'm scared of my heart breaking too many times, it decides to give up.

I'm scared for Mango. I'm scared for his future and what he will be in the next few years. I'm scared for when he turns 5 and he will have to go to school. I'm scared of him going to school. I'm scared of how he will be treated. I'm scared of how the world will treat him. I'm scared that his heart will hurt. I'm scared he will meet horrible and arrogant people that will leave a scar on his heart that I can't mend. I'm scared of losing him. I'm really scared of losing him. I am also scared that he will never know how much I love him. I'm scared that he will never know that I would give my heart to him if he ever needed it and I wouldn't think twice. I'm scared of a life without my heart because he is my heart.

I'm scared for plum and what his life will be like. I'm so scared of how his heart will break a little when he meets mean people that will give him a hard time about having a brother with a disability. I hurt for him knowing that he will have to face these things in life. I'm scared that he will know what it means to hurt everyday to see a loved one struggle with the things that we take for granted in life. I'm scared for his heart.

My dearest husband, who has been the strongest out of all of us. I'm scared that one day he will break and I wont be strong enough to hold him the way he holds me but I sure damn will give it everything I have. 

How do you protect the ones that you love from so much pain in your life. When all you want for the people you love is happiness. If the price I had to pay was my life to give my loved ones true happiness. I would do it. I want them to never know what pain and grief feels like. I want to protect them from all the evil hearts that are searching to break something. How though? How do I do it?

midnight giggles

I think one of the main reasons I sleep late at night is because of my endless 'to do' list. I have so many things to do, I just don't know when to stop. Prioritise my list from most important to least important you say? It's all just as important. My bedtime is usually after 12am in the morning but for good reason.

Every night, at 12 am on the dot. I wake my little Mango up to change his nappy. If I don't , then I will most likely have a lot of sheets to change in the morning when I wake up. I would rather loose a little sleep and have more time to sleep in.

It's one of the best moments Daddy and I look forward to at night. We get all excited like little kids giggling and smiling from ear to ear because seeing mango sleep and try to ignore all the movement that I make to change his nappy, just happens to be the cutest thing in the world. It really is. If Daddy goes to sleep early, I wake him up because he hates missing this moment with mango. It's one of the moments we truly get to appreciate how perfect he is. His perfect eyes. His perfect nose. His perfect way of sucking his favorite dummy. His perfect hands that can't stop clenching even if he tried. His perfect hair. Everything that makes him perfect without all the spasticity in it. He is wholely prefect.

So everyday, I give up a little bit of sleep to have 15 minutes of precious time with mango. While I get to cuddle him and he snuggles down into my chest. Just the thought if it is making my heart swell with love and giggle with excitement.

Chromosome 18 (Distal 18q-) - PART ONE

As by now, if you have been reading my previous posts, you will understand a little bit about chromosomes. If not, heres just a short summary of what we need to know for this post.

1. Chromosomes are named by numbers. Starting from No. 1 to No. 23
2. There are three parts to a chromosome. The 'p arm'/ 'short arm', the 'q arm'/ 'long arm' and the centromere which kind of acts like a body part holding the arms together. 
3. Each chromosome from starting from the centromere has a something called a 'g-band' that is identified by a given number. The smallest number starting with the g-band closest to the centromere.

I don't remember much from the day that the geneticist invited us into his office to break the news to us about Mango's chromosomes disorder, just very brief flashbacks of the 2 hours and 30 minutes we spent in that office with him, while we tried to make sense of it all. We still walked out not knowing what to think. 

He started off by explaining chromosomes (previous post), then the numbers the order of the chromosome. Then he explained to us what balanced and unbalanced chromosomes are (previous post) and how common it is for people to have a balanced translocation in their chromosomes and never know about it their whole life because it never affected them in anyway. He then told us that there was a deletion in Mango's 18th chromosome and a duplication in his 14th chromosome.

In Mango's 18th chromosome, the deletion is closer toward the end of the chromosome which is why it is named 'distal' 18q-. If the deletion was closer to the centromere (the body) it would be called 'proximal'. 

A child with more than an distal 18q deletion (unbalanced translocation) can face different type of issues. Some could be 18q related and others could be symptoms from the other chromosome involved. 

Here, I will only be mentioning Mango's affects from the 18 chromosome and not all the symptoms related to distal 18q deletion. 

Just a note before you keep reading.
Chromosome abnormalities / disorders all have very similar symptoms.

Global Developmental Delay:
A diagnosis of global developmental delay is given when a child is slow in progression with things such as growth, weight gain, milestone reaching (head lifting, rolling, etc.), social interaction (e.g. making eye contact) and many other things. Keeping in mind that the word 'global' covers a whole range of things. 
Two children can both be diagnosed with global developmental delay but be delayed in  totally different things. 

Mango has sever development delay. Over the past two years, our paediatricians have never been able to tell us where on the charts of development our Mango is. The excuses given are always that they can't determine because we don't exactly know how much he sees or hears or understands. So basically they don't know. All that they know is that he is extremely delayed.

As a mother however, I can safely put him around the 4 - 6 month age. He rolls, laughs, babble a little and all these small things that I try not to miss during the day. Small progress is better than no progress.  

Vision and Hearing:
Vision and hearing problems are a common symptom to have with 18q-. The eyes may be misaligned which is called (strabismus) or move involuntarily (nystagmus) or a change in the optic nerve (the nerve that carries signals from the eye to the brain). 

Some individuals have hearing loss because their ear canals are narrow or end before they reach the ear drum. Cleft palates may also contribute to hearing loss. Other people have changes in the nerve that moves sound from the inner ear to the brain. Ear infections are also common.

A few weeks ago after Plum was born, Mango went under anaesthesia to have a hearing test. It was determined later on after the test that he has a mild to moderate hearing loss. This means that he would need hearing aids because he can't hear the softer sounds that we make in a sentence such as 'sh', 'ch' or 'th'. 

This was good news because somehow Pappa Bear and I were expecting him to have a severe hearing loss. Funny how the smaller things in life are the things that make us happy the most.


Heart:
Heart defect's are common with children who have any type of chromosomal abnormality. The may have a hole in their heart, changes in the heart valves as well as the major blood vessels that connect to the heart. 
As babies, Doctor's usually have an ultrasound of the heart done to look for any defects.

Mango currently has a heart murmur. This means that the valve that connects his lungs and his heart is a little bit narrow causing his heart to work a little bit harder than it should. This is not a big concern. His heart is coping very well!

Orthopaedic:
Foot abnormalities are actually quite common. Either from clubfoot or vertical talus (rocker bottom) feet. They may also have bow-leggedness also known as genu varum.

They may also develop scoliosos which is a curve in the spine. All of these problems can effect the way a person walked or stands.
Most of the time, these defects can be helped with splints, surgery, therapy. And lot and lots of hope and prayers!

Mango was born with vatical talus (rocker bottom feet). This is wear the feet turn outwards. It was quite severe and when the orthopaedic surgeon looked at Mango's feet, he told us that  we could try  physiotherapy (lots of stretching) and try casting but in the end we would need to operate to release the muscle. Months later and weeks before the appointment that we were going to meet with the surgeon to make a date if we needed for the surgery,  I started to take Mango to a chiropractor. I can't tell you if this worked or not but it seem to be the only thing that we did differently in our lives. We went back to the doctor, had x-rays done and we were told that his feet looked like they had never been rocker bottom in the first place. His ankle bones were a bit higher than usual but all was good. Our smiles and expressions of happiness couldn't have even live up to the joy that we were actually feeling at that moment. 

Gastriontestinal changes:
Babies and children may suffer from reflux. This means that the barrier between the stomach and the oesophagus is still immature and cannot keep the acid/food from the stomach down, which brings the food back up. This can cause pain, being unsettled and vomiting and sometimes projectile vomits. It is also said that the feeling of reflux is like heart burn. (My poor Mango!)

Hernia are also common. A hernia is when some of the intestine push through the abdominal muscle. This can be corrected through surgery.

Mango suffered reflux since the day he was born. With all the feeding and weight problems that we were facing even a little bit of vomit was a big loss. Mango's projectile vomits would reach the other side of the wall and after every projectile vomit, he would go limp from exhaustion. We kept him upright most of the time and had a pillow underneath his cot mattress so he could be a little elevated while sleeping.

Mango also had an inguinal hernia and a belly button hernia. His inguinal hernia was fixed through surgery and his bully button fixed itself. 

To be continued....

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.

2015

Happy New Year!!! 

Who's ready for a new year? I know, I am. 

As we start off the new year with 6 days of fever and a trip to the hospital, I take this as a sign that alot of good will happen in the near future. I pray for many good things that I never saw in 2014. I hope for great achievements. But most of all, I hope for more easy days for my little boys. Days that are filled with having days off from appointments and getting to spend some time with them.

They're growing up so fast in front of my eyes. Some days it feels like a tape recorder playing on fast-forward and before I know it, I'm tucking them into their beds and kissing them goodnight. In 6 months Mango will be 3. THREE! That's incredible. I have been a mother for 3 years. 
Plum on the other hand has been on the run. Cruising along and crawling so fast he trips on his chubby face. He hasn't stop talking from the moment he said 'Mama'. I love hearing his sweet little voice, telling me stories of his oh-so-interesting life and next month, he will be 1. One year, since a gave birth to Plum, yet the birth is still fresh in my mind. I remember him in my arms and his cry that nearly made everybody's ears fall off. I can still remember, just like it was yesterday. 

So, Im glad that 2014 is over. It brought many great things to us as a family but we are ready to move on! 

I hope this year brings many good things your way. Thanks for reading. =)

I've got you darling

I practice standing with Mango, everyday. Every. Single. Day. Some days I doubt if he will ever make it there and some days, my belief is so strong, that I can't understand the days that I ever had a single doubt. On the days that we don't have any appointments, we spend alot of our time on the floor together. Plum and Mango have learned to love each other and enjoy each others company, screaming, scratches and everything else that comes with brotherly love . Plum has been a great help and motivation for our Mango. He just seems more willing to do things while his little brother is sitting in front of him doing the same thing, together. 

Just like brothers, Plum has his back. 

Always ready to sit or stand with Mango. When Mango is on his tummy, Plum bend his head to the side and goes 'hmm?', as if to ask Mango is everything is ok. 

So today, while we were practicing our standing, leaning on Mango's special cut out table that happens to be the right height for the both of them to stand and lean on. Mango tried to move his left leg, lost balance and fell... Fell into my arms that were waiting for him. Yes, I was sitting right behind him ready to catch him, if he fell. I wouldn't have been anywhere else. In a split second, just as he lost his balance and the moment before I caught him, I saw panic in his eyes and as I caught him, I reassured him 'I've got you sweetie'. Yes, I've got you. I will always catch you, pumkin. His face relaxed as he realise that his Mama was right behind him, ready to catch him when he fell. My heart melted and I suddenly felt like crying. It was the moment that I realised, he knew, that I would always catch him if he fell. It'll never be any other way. Ever.

My little boys. Gosh, I love nappy bottoms. 

Reminder - I am important too

This is a post for me. A written post, to myself. This, is also an attempt to salvage what ever is left of my sane mind before I completely loose the plot. 

This moment right now. I can see the future going down hill from here. I feel like I'm trying to catch myself from drowning in an ocean of tears. I guess the thing is, that I knew this moment was coming and I just had to prepare myself for it to come. Except I'm starting to question myself, if this will be the cycle of my life. I take things on, not thinking how much it will weigh me down and then I sink. Is this what it means to take on one day at a time? Is it really what that means? Because if it is, then it's taken me two and half years to realised that somehow, as right as it seems, its so wrong. Except there is no other way.

The mother in me, the mother that I am, I can't allow myself to drown in my emotions when my babies need me. I think the past few months of Mango's appointments and hospital stays aren't only getting to me but to him as well. He has been so needy and cranky while Plum is teething crazy and extremely clingy. 

Today, I hit that brick wall, that I could see from a mile away. I hit it so hard, I couldn't take the impact of the crash. I put the kids down for a nap and the moment I stepped out of their room, it felt like my heart burst and I went crashing to the floor. I flooded the house today. I flooded the house with my grief, my guilt, my pain and mostly... my tears. I couldn't catch my breath, holding onto wall for support. What have I become? Where have I gone? Where am I?

I don't know what it was that got me back on my feet. I just somehow did. So much has happened in such a short period of time and I haven't even found time to allow myself to take it all in. I just kept going. So today, of all days, one of the busiest of all, my soul couldn't take it anymore and broke.

This is a reminder for me. That I come first too.
How? I have no idea. I can't even find time to go to the bathroom, how am I supposed to find time for myself. I don't even know how to take time to myself. How do you have alone time? What is it? What do I do, exactly?

I have, spoken to all those mother's out there who have a children with additional needs. So I can't say that I haven't been warned about the hard times that will get to me. I just have to keep reminding myself that it will get better. 

I want to take this moment to reflect on everything my family and I have been through. I want to soak it all in. Every joy and hurt that I have just pushed aside. Every bit of stressed that I ignored and told myself, it wasn't real. This is my moment to take it in so tomorrow I can stand tall again and be the best mother I can be. 

For all the mothers who have children with additional needs and myself, who are reading this. I want to tell you that you are Great. You are Strong. You are Wonderful and you have done so much great without even knowing it (because really, when do we have time to look back to see what we have done. We just keep moving forward). 

We are important too. 

We are our children's voices. And to make our voices heard, we need to hear our own first. That voice inside our head that keeps reminding ourselves to take a break, have a coffee, have a walk - because when we come back we will have stronger voices and with those voices we will move mountains. 

Most of all - this is a reminder for me. 

______________________________________________________

Dear Me,

Please read when you are feeling crap. Remember, we don't want this happening again. For everybody's sake.

From Me.

Chromosome 18 (Distal 18q-) - PART TWO

Please read "Chromosome 18 (Distal 18q-) - PART ONE" before reading this post if you haven't already done so....

Facial Features:
Facial features do not affect a person's health or development. People with chromosomal anomalies may look a little different from their family members and people with similar chromosomal anomalies may also look very similar to each other.
People with chromosome 18q- may look like they have a flat/squashed face. The space between their eyes might be a bit wide. They may have an extra fold of skin covering the corner of their eye. Their ears might be lower and look a little bit different from an 'average' persons ear. 
Just because someone has an 18q- deletion and they may present all these facial features, it is important to remember that they may also look very much alike to family members.

When Mango was born, I'm pretty sure what alerted the doctors in the beginning were his facial features. Thus, the beginning of our roller coaster ride. 
His faced looked very round and flat. His eyes were set wider apart than what I had seen on 'typical' babies and his ears were low. I noticed this because his ears were not in-line with his eyes. They were lower. 
We had originally thought that he looked very much like his dad. I think Papa Bear and I both felt in our hearts that something was a little bit off but we just couldn't put our fingers on it. Until ofcourse the geneticist came to see us in our hospital room. Even he didn't think anything was wrong but still a doubtful feeling lingered in the air urging us to look deeper. So we did. Thank God. 

Immunology:
It isn't that common to have low levels of IgA but some people with distal 18q- may have this. IgA is a protein that helps fight off infections. People who have a low level os IgA are more likely to get infections and colds. This can be managed by treating the infection, allergy or asthma early.

It was only recently that I started to wonder if Mango had an immune problem. He was always getting sick and if he is near someone who is even the slightest sick, he usually gets a worse case and it stays with him for a good few weeks to month. The blood test result that we had done, came back normal. So I'm still floating around in the air wondering what I should do now. There has to be an explanation for him getting sick all the time.

Lifespan:
When someone is diagnosed with 18q-, the family's first question is often 'What does this mean for my child's lifespan?". Speaking generally if the person is in good health, there is no reason that they shouldn't live till adulthood. 


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.

Bitter - sweet

We all have those times and moments in our lives that we call a bitter-sweet moment. Just lately it happens to be surrounding me constantly. My heart feels joy and pain at the same time causing myself to be confused about my emotions. 

Like the sweet moment when I held Plum in my arms for the first time and the bitter moment I realised that it would never be Mango and I ever again. Bitter-sweet.

The sweet feeling of finally being able to get results from a vision assessment we have been waiting so long for and then the bitter moment that we found out Mango was 'legally blind'.

The sweet moment I saw Mango closed his eyes after breathing in the gas that would put him to sleep knowing how long we had been waiting to find out what his hearing was like and then the bitter moment that our thoughts were confirmed that Mango had a hearing loss and would need hearing aids.

The wonderfully sweet moment when Plum first lifted his head on the second day of life and the bitter moment of realisation that it took Mango 5 months to lift his head for 5 seconds. 

The sweet moment when I look at Plum sleeping in his cot knowing that every second he is growing and learning something new but then I am crushed by a bitter feeling of knowing that one day Plum will out grow his big brother, while Mango struggles to put on a few inches and gain a few grams. 

I wake everyday to the morning sun shinning on my face and wonder what the day has in store for me and my family. How we will all cope and deal with the things that are brought to us. Everyday I tell myself that things will always be ok as long as our family stick together. Except today.
Today I feel hopeless and overwhelmed with guilt. Hopeless for Mango, who struggles and fights so much. Yet he is so naive to understand what is going on around him. Not realising that everything is a struggle and everything will always be 100 times harder for him, now, later and forever. He will never know the feeling of easiness to hold a spoon, point a finger or control his body.
The guilt that tries to pick at my heart strings everyday reminding me that Plum will never have a proper childhood just like his brother. Bringing him along to every therapy appointment and hospital stays. Being brought up knowing that his normal will always be with a brother that has a disability and will always require extra help. Just like his brother, his first friends may be his brothers therapist and doctors. Not because he needs it but because he hasn't had a choice to be able to choose friends because he hasn't been open to that type of environment. Where is the time? The guilt of not having enough time for the both of them to show love and affection like they deserve every minute of their lives. 

I feel as a mother/ full time carer, I want the best for my children. The best anyone in this world could ever have. I'm told all the time that I shouldn't be too hard on myself because what I give them is everything I have. Yes, this is true. But what I give is still less than what a 'normal' family can give. What I can give are only a few minutes or hours in between appointments and feeding and changing nappies is a small amount of play time and love. Reminding them constantly that I love them and that I am giving my all. My all may not be enough but it's everything I have to give. I would give anything to see smiles on their faces. 

While they crave to want the best, I also crave to give them the best. 

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.

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...

Dear Shopper

Someone shared this with me... It's so sad but so true. Once upon a time I was the shopped (sad to say) but now I'm in different shoes too. 

It is written by a mother who has an autistic son. April is the month of Autism Awareness. Please support them by clicking on the link below. Bringing 'typical' children together with children who have special needs teaches our children to be aware. Involve them in helping. Teach them. Don't be afraid of the unknown. 

http://www.autismawareness.com.au/get_involved

It is these lessons that will define who our children will be in life. To have an open mind and most probably have more knowledge than many other people will. It's lessons of kindness, love, affection and so much more by getting them involved in something so simple. We just have to reach out towards it.

Dear Shopper,
Yes, I know. I’m well aware that my child is screaming. Not just a regular scream, but an ear-piercing, sanity-shattering screech. Even if I wasn’t seeing and hearing it, I would know by the expression on your face.
Clearly, you have raised your children better than me.
That is what you were wanting to say, right? There certainly can’t be any other purpose to you stopping in your tracks to stare or elbow your companion or better yet — give knowing looks to other shoppers passing by.
I have no doubt that you have wonderful, well-behaved children. Grown, tax-paying, law-abiding citizens who would never have dreamed of screaming like this in public when they were children. Judging by your expression and utter exasperation, you’ve never hesitated to let them know who was boss.
And I know that you did your best with your children, that you loved them, and want all children to have a solid upbringing in which to start their lives. You are, in all probability, a good person. You probably don’t mean any harm.
This is what complicates what I want to say to you. Because, despite my anger towards you, I happen to have been raised well too. I don’t want to be ugly, even though right now I feel like it.
Because I know some of that anger is misdirected. It is misdirected because I, too, have stood in judgment of someone like me. I, along with almost everyone, have stood in public and watched a scene like this one play out and thought to myself, “Clearly she has no control over her children. When I have children, mine will never behave like that.” I, like most people, wasn’t quite as obvious about it as you. I didn’t stare or make comments that could be heard. But I was every bit as decided. So, some of my anger is really directed toward Human Nature, who refuses to be put in its place.
The nice thing about human nature, however, is that it can be overridden. And all it takes is but a single experience, a single human interaction, to the contrary of your own strongly held convictions. Then presto whammo — you are a new and hopefully improved person.
Let me introduce you to my child. Like you, I marveled at the miracle of life upon becoming his mother. Like you, I rocked, burped, and inhaled his sweet baby scent and thanked God over and over for the gift of him. Like you, I had certain dreams for my child. There your path and my path diverged somewhat.
My precious child is autistic. Yes, I’ve seen Rain Man, and, no, my son is not likely going to be a great card counter. The truth about autism is that it encompasses a wide spectrum of abilities. And, like you and me, every autistic child who has it is different from the next. Yet they do often share some similar traits – sensory overload and meltdowns are one of them.
Every person on the planet has what I think of as an internal alarm system. Most of us have ours in good working order. But some people with autism have what I like to call a hair-trigger alarm system. Theirs can go off with what seems to average folks like little to no provocation. There IS always provocation. Non-autistic people simply aren’t as sensitive to seeing and hearing the triggers, and that’s when the alarm goes off. And when it does, it’s loud. Everyone in the vicinity wants nothing more than to have it turned off, including the people who love them. When you see me “placating” my child and “giving in” to his tantrum, I’m really just desperately looking around for the alarm key or trying to remember the right code to turn off that blaring alarm. It isn’t his fault. And, no matter how upsetting it is for you, let me assure you it is that much more upsetting for him.
I’m sorry that you haven’t had quite as pleasant of a shopping trip as you had anticipated. It hasn’t been so pleasant for me either. Problem is — I have to feed my family, pick up prescriptions, etc. just like you do. And, unfortunately, no one arrived at my house today to watch my child so that his autistic behavior wouldn’t upset anyone in public. I have to leave the house and so does my child. Because I have to teach him about the world. I have to let him practice controlling his alarm system. So that he, too, can possibly be a productive citizen making come true all those dreams I had for him when he was so small.
With so many advances in early detection and therapy, many of us will be able to see most of those dreams come true for our unique children. And for some of us, our dreams will have to change for our children. We may need to re-define happiness and success. For life is like that. We constantly have to reevaluate our expectations of ourselves, others –and, sometimes, even the grocery store.
I’m hoping that your single human interaction with me has given you an opportunity to be a better person. For, with 1 in 91 children being diagnosed with autism now, you are going to have a lot more opportunities to make a positive impact in the life of someone like me. All it would take would be a smile, a pat on the back, or a “Bless your heart, honey, hang in there” to refill a stressed out parent’s reserve of patience and calm. You could be the bright spot in our day. And, then, if you want, you are welcome to ask all the questions you want. Your curiosity doesn’t offend me in the least. Most of us aren’t the least bit upset to talk about our kids – any more than you are. If anything, it is an opportunity to educate and dispel myths.
And, maybe, just maybe, you will be standing there when the alarm gets turned off. Maybe you will get to see what every mother wants the world to see – the wonderful personality of her child, in our case hidden behind a mask of fear, anger and frustration.
Who knows? Maybe I’ll get to see the one hidden behind yours. ♥

By Flappiness Is