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. 

8 things to never say to a special needs parent

As a parent of a special needs child, I always find myself in situations where people find it okay to comment on me about my children, faith, parenting and everything else they can think of. I know, I know, I know. They mean well. Blah blah blah blah. 

1 - "I'm Sorry''
While a statement like this seems like the only thing you can say sometimes. It actually is offensive to the person who your saying 'sorry' to. 
What happens next? What do we say? "don't worry", "He is okay", "Oh, it's nothing". There is no reply for this. I'm not sorry that my kid has a genetic disorder. He is my kid, after all. We don't need or want sympathy or pity. We really don't want it. So by saying 'sorry', you are apologising for us being in the situation we are in, feeling sorry for us. Again, I say this, we don't want pity.   

2 - "I hope he gets better soon (Shifa)" (not including when he is sick)
My son has a genetic disorder. A genetic disorder is not a sickness. It can cause his body to have a low immune system but the genetic disorder itself is not a sickness. His hearing impairment is not a sickness. His vision impairment is not a sickness. His lack of development is not a sickness. Nothing about him is sick. And because it is not a sickness, it can not be cured. It is, what it is. Just the way it is. I know alot of people find it hard to accept or understand that something like this is not a sickness. My family took it very hard always asking what it was that we could prevent this from happening again or getting this again (like it was a some virus that you could pass on) but it's not. It takes a while to accept the fact that it just happened. So please don't say this. Because he is not sick.


3 - "He looks fine, he doesn't look like he has anything"
Thanks for trying to make me feel better. It didn't work. So far, in our two and a half years of life, nobody (except my sister) has actually admitted that Mango looks 'different'. Than you sister. I love you.
We know he isn't 'typical looking'. That's how we found out about his genetic disorder in the first place. His facial features. We know his ten fingers and eleven toes look weird. Yes, That's right. I just said eleven (two bones in one toe). We know certain physical features gave the genetic disorder away. 

4 - "At least you have a normal kid too"
There are two parts of this common saying. 
1. The word 'normal' . Your meaning of normal could be very different from what my meaning of normal is. Your normal could mean, waking up in the morning, feeding the kids breakfast and going to meet friends on a play date, while my normal is waking up, feeding the kids as fast as I can and rushing out the door like a mad women to try and reach our hospital appointment in time. There is no normal. 

2. You are so very very wrong. Seeing your younger child doing all the things the older child may never do, is a constant reminder of the loss that you feel. It reminds you everyday that Mango may never get there. A daily reminder that Mango may never learn to solve his problems or learn the hand and mouth co-ordination skill or learn how to lift himself with his hands but only his elbows and do so much more that your 6 month old is already doing. A reminder that your darling Mango, is so different. It makes you sad everyday, reminding you that your 'nest' that is eventually supposed to be empty, will never be. It's a constant reminder, to you, every time, you look into the two most perfect faces who think the world of you, of how your hopes and dreams were once crushed by the reality of 'never happening'.

5 - "God only gives you what you can handle"
As much as I believe this line to be true. I feel as if, when someone says it. It just sounds so rude. Pretty much like 'Stop complaining'. For me, this line has always been brought out at the wrong time and wrong place for me. 
My husband and I actually spoke about this line over dinner once. We spoke about how, one simple sentence could mean so many things and none of them were nice. 
I know, I can handle things because we do. This doesn't mean that we aren't allowed to share our disappointments. This also shouldn't mean that we become too worried to say anything because we feel that someone is going to take our disappointment the wrong way and think that we are ungrateful for having Mango.  
Sometimes, I feel like putting my hand up to their face and saying 'Just shhh. Just. sshhh. ssssshhhhhhHHHHHHHH!! Don't say another word'. *High five in the face*

*I can feel my blood boiling and my heart starting to beat a little faster*


6 - "I know so-and-so and they know so-and-so's, sister has a child with a genetic disorder, so I get it."
You don't get it. You don't even get a small bit of it. The fact that you had the audacity to say such a thing, just proves that you don't get it. Unless you have walked in my shoes and been through what I have. You don't get it. 


7 - ''Maybe you need to pray more"
Ahhh... I have actually got this one before. It left me crying in the car for hours. I don't even have the word to explain this one. 
The first thing our geneticist told us after breaking the news about Mango to us was "There is nothing you did or didn't do. Should have or could have done, to prevent this. It just happened and there is nothing to explain why. It just happened."

8- Don't ever say "Retard" or "Retarded" 
The moment I became a special needs  mother. The word retard has suddenly become extremely offensive. The medical term for Mango's cognitive delay is 'mental retardation'. The word is tossed around so lightly and used for jokes, noone really knows it proper meaning anymore. Delay is obviously a better use of language. Especially when you are talking to me. Its a horrible feeling. The moment the word is said, I get this knot in my stomach and without even knowing it, I take a mental note that the friendship I have with this person is a little ruined, a little trust is lost and I plan on keep my distance to protect my heart from being hurt this way again. The word is so backward-living. People I love, tell me I shouldn't be offended when they use the term retard or retarded. But I am and I always will be. Why should I not be offended. Please explain to me this. If so many people in this world find this word offensive, but the parents of children with special needs are apparently being label 'too sensitive' when we get upset because of this. How is that fair. The word has been changed, they have changed it to 'delay'. Use it. 

While everything here is said from a nice place in everyones heart, Please understand that most of the time, they are actually offensive. How else would you know if we didn't tell you, right? You wouldn't know. Most of us parents understand that people always mean well,  so we don't say anything. Alot of the times we just nod and smile. But you just never know what type of mother, might be holding on to the last straw on the camels back with all her might, hoping she wont break. A small line like this could go a long way and just might be the thing that makes her break. Think before you speak.

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.