Birth

 

I was born on the 11th of April 1997 by caesarean section.  My Mummy thought I was the perfect little baby as I was so quiet at first. Then on my third day of living in this big world thing, I found my lungs. The Paediatrician suggested that I have a genetic test done due to my receding chin as he thought that it is a common trait for a chromosomal disorder. Neither Mummy or Daddy were carriers of a translocated gene. All other tests that were done on all newborn babies showed that I was a healthy baby.

 

 

 

Diagnosis

 

When I was 7 months we went to this big place that had lots of lovely people called doctors. I think it was called a hospital. A man called a genetic counsellor spoke to Mummy and told her that they have figured out exactly what was different about me. The doctor explained that I have a very unique chromosomal disorder called Trisomy 9p. He drew the diagram below to explain what had happened to me at conception.

Each chromosome is divided into two sections called a "p" arm and a "q" arm. The "p" is the top arm and the "q" is the bottom arm. If you have a look on my number 9 chromosomes, I have a 'mirror' image of the "p" region and a little bit of the "q"' region on my right 9th chromosome. I also have the "q" section of my Y chromosome deleted completely.

The counsellor couldn't really say much with what my future would be like. He hadn't come across another patient with Trisomy 9p before. All she knew was that I did not have any internal defects. He did say that it could affect my mental abilities and I may be sterile because of the Y chromosome deletion.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

7 Months

 

Mummy breast fed me for seven months, though I was still very hungry after each feed. She went to see a speech therapist to help me with breastfeeding. During this time though I was an unhappy little boy and was not gaining weight very quickly. While I was awake, all I seemed to do was grizzle. I had no interest in using a bottle with expressed breast milk. One day my Mummy decided to try me with formula milk just in case I had to be babysat. To her and my surprise, I took to the baby bottle very easily and seemed to guzzle the formula quickly. From this point onwards I was fed formula and my weight increased dramatically. Mummy also said that I became a very happy boy.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

15 Months

 

In July 1998 I began to attempt crawling and I do it rather awkwardly but at least I can move around and get toys. It is called Commando crawling apparently. People now wave to me and I respond by lifting my arms. The doctor said a have a lot of fluid in my inner ear so grommets were put in both ears and they seemed to have improved my hearing. I have eyes that are a short sighted and an astigmatism so I now where some gorgeous Paddington Bear glasses. I also have a splint on my right leg to straighten up my foot, as I have feet opposite to club foot. Mummy says that I am a very happy boy and I have a cute laugh too. If my older brother Matthew is being tickled and laughing loudly, I will look over to see what the commotion is about and 'squeal' with delight, as I thinks it's quite funny too.

 

 

 

 

 

 

 

 

 

 

 

 

16 Months

 

Hey everyone!!!!.....I am starting to vocalize now that I can hear better. On the 11th of August I said "da", the next day "hay-oh" (about 3 times) after Mummy said 'hello. Then I was also saying "dada" and "mama". Mummy knows I am trying to speak to her, but most of the time it comes out as "ahhhhh", otherwise I blow raspberries and laugh a bit more.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

October 1998: Mandy and Bernie get their faces in the local rag ...

 

 

20 Months

 

Christmas is nearly here.. and the family are all getting Chicken pox. I am a very tough little boy as I hardly got any, just few spots, but I didn't complain once. Mummy heard that I may have a high tolerance to pain/itching. I did get it mildly compared to the rest of my family. I, Christopher Andrew, am so proud of myself as I am starting to stand up by myself and hold on to furniture. This Mummy tells me is called cruising. It is easy to balance myself, I just put out my arm if I am about to fall. This so called standing thing I cant do yet, due to my weak stomach muscles. No more new words have come out so far but I do understand sign language now. For example if Mummy signs 'eat' without saying anything I respond by saying 'more'.

 

 

 

 

 

22 Months

 

Gosh!!!! This is great fun, I now can stand at the edge of a queen size bed and can cruise from one side all the way around to the other side. I still fall over if no one is holding on to me but I can lift myself up as I have hyper tonic legs which support my own weight but my stomach muscles are still too weak right now. Hey, I have got into a proper crawling position a few times using my knees and even made a few steps forwards though my main method of movement right now is still the 'commando crawl'. I say a new 'word' .. 'yayayaya'. It's the 17th of February and I was playing with the Physiotherapist, dropping toys and laughing. The physio kept on saying 'uh-oh' ..I also said 'uh-oh' delighting Mummy in the process.

From the19th to the 28th of February, Mummy went away for child free holiday. While she was away I discovered another use for my building blocks. Rather than just putting them in my mouth, I found out that you can actually join them together. Matthew had been showing m4 Yearse how the pieces go together. Now I will happily spend about 15 minutes standing against the coffee table playing with my Lego blocks.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

23 Months

 

There is a lot of things I am discovering lately. Now I am beginning to sign back to Mummy when she asks me if I want some food. She says I am also getting much heavier .. 12 kg. Lately I have been able to get off the sofa by myself without falling on my face anymore. I now turn around and lower my feet to the floor over the edge of the sofa. Mummy said since I keep on getting ear infections, we have been told that it would be best if my adenoids were removed. The grommets are working according to the ENT but there is just a little too much fluid for them to cope. I can now sit upright on the sofa without falling over, and am very proud of myself too. If Mummy puts me in a lying position on the sofa I will turn around and get into a sitting position all on my own. I will also laugh and acknowledge that I have been a 'clever boy'.

 

 

24 Months

 

On the 13th of April 1999, I got so excited as I started holding a spoon with my left hand and eating breakfast all by myself. Mummy understands that I need a little assistance with scooping the food out of the bowl. For some reason, my Mummy holds onto my right hand rather then letting me put it into my food.

 

 

26 Months

 

Now I am able to eat on my own with a spoon. Mummy has stopped holding my right hand too. At the end of my meal I love sticking the bowl on my head and grinning to make a show of myself. This crawling thing is great, I am doing it all the time now and very rarely do I 'commando crawl'. This transition has taken about four months to complete.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

I'm getting dressed ready for the formal dinner at Rochester SOFT Conference USA

 

29 Months

 

Well, Mummy and myself have just come back from the SOFT conference, over in the USA. I met lots of people who have other special children just like me. All those people adored me.....naturally, and I didn't mind being the centre of attraction with coming from the other side of the world. In the 4 weeks of being away, my crawling sped up and I learnt how to climb staircases, as every bloody American house has one. My poor Mummy fell down her friends stairs the first week we were there. I also started pronouncing "nananana" and kissed my Mummy for the first time. Now Mummy and I are back home I am adjusting well and am glad to be back with my brother, Matthew. Mummy said I am a little terror as with learning to climb staircases, I can now climb onto the coffee table, and up onto the video cabinet to look out of the lounge room window. She says that she is just waiting for me to climb onto the toilet next.... what ever that is.

 

 

 

 

 

 

 

 

 

34 Months 

 

Apparently I have been progressing so well over the last few months. I know 12 signs and acknowledges 62 that Mummy does. My Physiotherapist says that I may possibly be having a walking frame soon which will assist me in getting around more. That sounds great fun... I can chase Matthew around the house and run Mummy's feet over too. It is great to be able to communicate with everyone and know that they understand me. Matthew and I are big buddies and are very affectionate with each other. We are going to grow up to be good friends, I am sure. Mummy mentioned something about going to a day-care centre soon which will help give her a brake. I wonder what that is, as I have never been to one of those before. I am sure whatever it is I will enjoy having a rest from Mummy anyway. Matthew, Mummy and I have moved houses and I have a new bedroom...It is wonderful as there is plenty of room to play in. Soon I will be doing more hydrotherapy which I enjoy because I love the water so much.

 

 

38 Months

 

Well.... I have been told that I am now officially a "typical 2 year old". Well that is what Mummy says anyway. She says that developmentally I am about 18 months old, so that means I heading to the 2 year old tantrums. I don't know what she is on about as I am a sweet little angel...... I think??? I can do over 25 signs and understand about 70 now.... wow... I must be getting clever. Grandma saw me take my first steps the other week. I took 3 steps towards her without the walking frame which I have had for a couple of months now. Every day now I let go of the coffee table and walk sometimes up to 6 steps. Before I know it I will be walking like Matthew. Twice a week I go to day-care which is fun. I have a teacher that looks after me every where that I go. I have learnt to paint and play with other children. I am also in a bed now... Mummy was worried about putting me in one, thinking I might fall out. I have a bed barrier and have not fallen out since. I am a big boy having a bed.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

47 Months

 

I am slowly heading up to 4 years old now. I walk around all by myself now without the frame. The walking frame was handed in to the physio in December when I would have been just over three and a half. Over the last few months I have gone from walking around on my own to attempting to run. My muscles have strengthened as I can pull myself up to a standing position withouth using the wall or a chair. My speech is going really well too. I can attempt to say many words, though there are still only about ten that I pronounce properly. I sound the words the best possibly. For example, when I say flower it comes out "fow".  This year I started Kindergarten and I am in the mainstream. The other children talk and play with me. I have an aid called Mrs Wright who helps me do all the same things as the other kids. After three and a half years, I finally have taken an interest in television though I am very picky in what I want to watch.

 

 

4 Years

 

I have had a very busy and stressful last 6 months. Back in July 01, I went in for an operation to have my foot fixed. The Doctor said that if he was to cut and rearrange some of my tendons in my right leg then maybe my foot will turn in where it should be. I went in for the operation and I was surprised when Mummy brought in this big red wheelchair that was the perfect size for me. For the next three months I had to stay in the wheelchair as the doctor said I am not allowed to walk on the foot for a long time. I thought it was great being wheeled around everywhere and having everything brought to my when requested. Mum was quite tired by the end of the three months with all the work she had to do. Just before coming out of the wheelchair I had some AFO's (splints) made up for me and I had to wear them all the time. As soon as I got the AFO's the physio and Mummy took me to the shoe shop to buy some shoes that would fit over the AFO's. Not cheap either Mummy said. As soon as they were on Mummy said I could walk again and I slowly stood up then wobbled a bit and as soon as I got my balance I began walking again. Before you knew it I was doing laps around the shoe shop and Mummy was nearly in tears of joy to see me on my feet again. She said that once the shoes were on my feet suddenly looked so straight for the first time in my life. I was very demanding over the next week, insisting to walk everywhere I went. We went back to see the doctor just yesterday (October 26th) and he said that my operation on my right foot has been a success and is better then he expected. Anyway I am not only walking now, but I am talking too. I said my first verbalized sentence this week too. I am a very clever boy now!!! : )

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

5 Years

 

I am now 5 years old and I am full of energy, sometimes too much for Mum to handle. I am in a main stream Pre-Primary School with my aid Mrs Wright. I have found lots of friends who except me for who I am. Just back in May I was invited to my first birthday party and Mummy was more thrilled then I was. I am now able to write a letter "C", "H", "I" & "S", and sometimes I actually get them in the right order. I am seeing a private speech therapist and she has been using a certain method which is working to help me talk. I can now put me "t"s at the beginning and end of each sentence. I can quite clearly say "I love you Mummy" and each time I do for some reason my Mummy goes all mushy. I now have a trike which was specially made for me back at Christmas. I went from not being able to ride anything to riding my special trike in a day. It has special straps that keep my feet on the peddles and a handle so my Mummy can grab me when I try riding of. She sometime uses the back basket as her shopping trolley. So far the teachers have been happy to have me at the school and I hope that next year in year one I will still be able to go there. I have tried toilet training though it seems like I have trouble holding my bladder still. I know the other children at school don't wear nappies though never do I. I wear pull-ups so that means I am a big boy now.   

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

6 Years

 

Howdy!!! I am such a big boy now. This year (2003) I am in year 1 and still in the main stream school. Mum went through such a battle at the beginning of this year and even said that threatening word "Media" to the principle until they realized Mummy wanted me in a school just like my big brother and wasn't going to have it any other way. The trick to getting your kid into main stream is being stubborn and polite at the same time. I have two teacher aides which work with me and take turns each day. Their names are Mrs Hooper and Mrs Webber and I think they are wonderful. Mum managed to push the school to having me in with an aide full-time, though by the end of term one I was getting very tired and was having many seizures. After seizures I get very "zonked out" and I am not able to concentrate. It seemed like I was wasting my time going to school as I just could not concentrate and learn anything. Just for this reason Mum was not prepared to have me put into a education support unit/centre as academically I was having no problem. The principle and Mummy spoke together to try and find a solution and they both agreed that if I have Wednesdays off school and had a midday sleep it would recuperate me ready for the next day back. This system worked and still today I have Wednesdays off. Now I am learning heaps and do not have too many seizures. My teacher, Mrs Johnston gave Mummy a shock not long ago when she told Mummy that I am ahead of my group in reading. I can spell my name and some other kids that are my friends and I am learning how to use a computer. I am such a clever boy and Mummy is very proud of me. My speech is coming on really well and people are able to understand me more now. I am able to go to the toilet on my own though I still wear pull-ups at night. Mummy tried night training me and I went two consecutive nights dry though during the day I had quite a few accidents. Mummy then worked out that I was able to hold on at night though by morning my muscles were so tired I couldn't hold on at day. So she decided to not worry about night training yet. My life has changed a lot over the last year as Mummy is seeing a wonderful man called Arthur and he also is a single parent of four. He has twins Matthew and Scott, (12) and the have a disability like me. It is called Hartnups and Autism. The other two are girls Helen (10) and Jacqueline (8) so now I have three brothers and two sisters. They are getting married next year and then we will have a family of 8. My best friend is called Connie and here is a picture of us. 

       

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

I am now 6 and 1/2 and my doctor ( Orthopedic Surgeon ) just confirmed that I do not need to wear my splints anymore for the rest of my life. I had a party at school to celebrate and all my friends are so happy for me. The operation that I had when I was 4 was definitely successful and now I just have to wear inner soles!!!!!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 8 Years

 

Hi everyone!! Well it has been a while since I have added to my journal. I am now 8 and a half and I could swear I am now 18 (I like to think so anyway). I am in year 3, still in a main stream school with my aides and I am doing brilliant. Over the last 18 months I have learned to read and write, and Mum is so proud of me. I even got an honour certificate from the principle for neat writing. I know I can write neater then Mum thats for sure. Mummy got married to that lovely man I mentioned to you before, Arthur and I now am part of a family of 8. My two older twin brothers (14), have also got a disability though they can not read or write so I think I am smarter then them. I know that I am becoming a bit of a trouble maker now as I want to do as I like, though Mummy keeps telling mo off when I do. I hear her say regularly that I am very stubborn and tenacious and no matter what anyone says I will do what I want. I still wear pullups at night time and Mum has tried to get me to have dry nights though the doctor says that my muscles are weak and thats why I have problems still. During the day I am dry and Mum is happy with that. I still have choking problems like I did as a baby though now a days it doesn't happen to often and most of the time I get in trouble for putting to much in my mouth at once which caused me to choke. Oh well will write again in the next year or so and now I got to get back to chasing those girls at school. Seeya. P.S. Dont I look just absolutely adorable!!!!!! I know it too!!!!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

10 Years

 

Well Hi all!!! I am nearly 10 in April and I think I am the bees knees. I still love reading and writing and refuse to clean my room. I am in year 5 this year and learning running writing. Wow that's the last thing Mum ever saw me doing. In March I succeeded in completing my level one swimming certificate that involved me gliding, floating and picking things of the floor. I have been trying to complete that certificate for 5 years now. Mum and Grandma were so proud of me. In the last year my main progress is I now know how to swear thanks to my brother. I don't know why though Mum doesn't like it.  I still wear pull-ups at night and have trouble if I dont. The doctor has been keeping an eye on my Scoliosis and says its still only very mild. he said that Mum was wise giving me calcium tablets all my life for the osteoporosis as I would definitely have had it by now according to the results. Any way will speak again soon. By for now.

 

 

 

11 Years

 

Well here I am, 11 years old and I'm in year six at school. This last year has been a bit hectic for me. I had surgery earlier in April ( two days before my birthday at that). My right foot needed the second surgery which Mum was warned about when I was 4 and had my first one. The doctor reconstrusted my foot by cutting my heel bone and inserting a screw on my foot.  I had to stay in a wheelchair for a week and keep a plaster cast on my leg for 6 weeks. After that I had a special boot made to keep my foot in the same position.

 

 

 

 

 

I hope my journal gives many families an idea of what possibilities, hopes and miracles can happen with us amazing kids.

 

[More to be added as time goes by]

My email address in case you didn't know ...softwa@arach.net.au