Genetic Test Results: My Story

It's gonna be a long story, so make yourself comfortable....

I've been wanting to blog about something for a long time but haven't because I didn't know exactly what it was. I'm not sharing this with you because I want you to think I'm amazing or some miracle person. I'm sharing it because it helps me to accept who I am, answers some of my questions, and may answer some of yours if you've had any.
It also helps me to understand why for the past 29 years I've looked the way I do. It also helps me to realise that there are another hundred years or so that I will continue to live like this, and to be grateful for the life that I've had so far, and will continue to have.

I am 'different' and I have always known I am and you can quite plainly tell that I'm different. But to me this was just who I am and so I got on with my life as best as I knew how.

You see, I have this condition, and doctors and specialists have never quite known what it was. They thought that I had bits of two different conditions, so came to the conclusion that's what I had. I was told that I would never walk and that I would be in a wheelchair for my entire life. I was told that I would feel tired quite a lot, as the muscles in my body were not very strong. I was told that I may not even have children because they were not sure how my body would cope with the weight of being pregnant. I was also told that there was a chance that if by some miracle I did have any children that they had a chance of having the same condition as me so I would need to "consider my options". I was also told that I should probably not work, let alone ever work a full time job, as the stress on my body would not be good.

So the two conditions doctor's thought that I had were

- Marfan's Syndrome
- Beals Syndrome

The two conditions are similar and have only recently been recognised as two seperate conditions from each other.

So the characteristics that I have are the scoliosis, and long thin fingers and toes,(known as Arachnodactyly) with limited movement in my fingers - I can't straighten my fingers.
A lot of people don't even notice unless I'm pointing at something... they often just ask if I have arthritis, or if I have a sore back, or if I am a little bit pigeon toed. I just told people that this is the way I am, I was born like this and this is all I know.

Yes there were times when I was growing up that I wished I didn't look the way that I do, and there were the questions from everyone - friends, other family members, the stares from people in the streets etc. But I was determined that I would not let these conditions stand in my way - I wanted to prove those doctors wrong and show them that I could be just like everyone else.
It's been a lot of hard work but I am here today - the person that I am because I didn't want to live my life in a way that was planned out for me by doctors before I even got a chance to try.

Now I want to tell you about someone very important in all of this... My Nana... you see my Nana raised me from a little girl, and if it weren't for her taking me to my various clinic and physio appointments EVERYDAY I would not be walking today - I would be in that wheelchair! I pretty much owe my entire life to her!
I walked on my knees until I was close to 5 years old, and from there I walked all hunched over, but with all these appointments I began to straighten out. I attended schools like a normal child, and lived a normal life. I even went to Teacher's College and got a degree in Early Childhood Education (probably the most physically demanding job for someone with a condition like mine). I then went on to work FULL TIME for a few years, and now look at me - I have 3 beautiful children, that by doctor's diagnosis I should never have had.

Anyway, as the story goes I got married .... After I got married we kind of talked about when was the right time to have children. Always in the back of my mind was that thing that I had been told.... "you may pass this condition onto your children". I thought about it so much - what would life be like for them? Would they have it worse than I did? When I got pregnant I was told to think about 'my options' again if the baby showed signs of having these conditions. Matthew and I talked about this and came to the conclusion that there would be no 'options' - we would have this baby normal or not. After a lot of hard work I lived a normal life so why would we not do the same for our child?

I had my first baby in 2009 - I saw numerous people who kept an eye on me to see how my body was coping with the pregnancy - I had numerous scans to check the baby's bone structure - particularly fingers, and also had an echo to check my heart as one of the conditions of Marfan's syndrome is problems with the heart. The echo showed no problems but I was given an antibiotic during labour just incase something was to go wrong with my heart.
The baby showed no signs of having anything wrong during the scans and I gave birth to a 'normal' baby girl. After having this baby I was told that just because she was normal there was still a possibility I could pass on my condition to any other children born. Why do they always need to remind me of this? I didn't care - I would still love those babies and try my hardest to give them a normal life.

Anyway.... I got pregnant again in 2011 - due in 2012. This time I developed gestational diabetes. There were regular scans again to check the baby's bone structure and also another echo. I was seeing a great diabetes doctor: she looked at my notes and the results of my echo and questioned: "Do you really have Marfan's syndrome because you have nothing wrong with your heart - if you had Marfan's you would have heart issues". I just told her that no one really knew what it was so I just carried on with life. But that great doctor was not satisfied with that answer - she sent me to a neurologist. (In the meantime I gave birth to a normal baby boy in April 2012). After my baby boy was born I went to visit the neurologist and he had some genetic tests ordered for me. I got those tests done in September 2012.

In the meantime I got pregnant again (yip I was about to have my 3rd baby - remember I was told I probably shouldn't have had any!) I tried and tried to find out the results of those tests but was told the forms hadn't been filled out properly, then the bloods were still in Auckland waiting for the forms to be completed, then they were sent to the states etc etc. I kind of just gave up. Anyway I gave birth to another beautiful (normal) baby girl.
Last week I got a call from my GP telling me she had been trying to chase up my results and that they were back but they would not release them to her because she didn't order them. So I called the neurologist and left a message.

Yesterday I got a letter...

I have Beals Syndrome - Not Marfan's which explains why I have no problems with my heart.
Last night I did some research of my own and found out some interesting things...

Marfan's syndrome can be passed onto your children - this explains why I have 3 perfectly normal children - because I don't have Marfan's.

Beals syndrome is caused by a mutation in the gene which helps tissue to form - this means that because of the mutation in the gene my tissue didn't develop properly, and are short which cause my fingers to not straighten.

So now that I have a diagnosis I can finally understand why this happened to me and what caused it.
I still get tired - I don't walk very far, sometimes I need to sit down a lot.
Pregnancy was a hard time for me because of the extra weight - my body did get tired and sore, but I was so grateful that I was getting a chance to grow a life inside of me that i just pushed through the pain.
Sometimes working was very hard with the amount of bending and lifting - but this was my career - that I had chosen, and I was grateful that I got to experience having a job.

I don't consider myself different anymore - this is my 'normal', this is who I am.

I can tell you these things though....

I feel VERY grateful to a Nana who took the time to help me walk and live a normal life
I'm grateful that I had the determination to not let this stand in my way growing up
I'm grateful that I had the opportunity to get a job, and that I could work full time
I'm grateful that I was able to get married and for a husband who saw past my 'differentness' and loved me for who I am
I'm grateful for a husband who still wanted to have kids with me even though there was a chance that they would need a lot of help to be 'normal' or live a 'normal' life

But most of all I'm grateful for the 3 little blessings in my life - My children - the blessings that I grew up thinking I may never have the chance to raise.
What a great life I have - I am so blessed.

Thanks for reading my story :-)