Our Story.....
In 1987 my family was given some heartbreaking, earth shattering news. My little brother who was 7 was Diagnosed with Duchenne Muscular Dystrophy – a condition none of us had heard of, a condition that was incurable, a condition they said would see my brother not live past his 25th birthday.
This news was life altering for our family! Then we were told that my mum most likely carried the defective gene – and there was a 50% chance my sister and I could also be carriers…. Wow this information was so much to take in, I was just 17 years old – this information blew me away. For me my first instinct was anger; there was tears, but anger was my coping mechanism for everything.
Weeks after the initially diagnosis our family went to Sydney to have blood drawn and my brother Paul had a muscle biopsy to get the confirmation the blood work was right! The weeks after these tests awaiting our results were excruciating to say the least…. weeks past and we tried to cope the best we could with this situation. I clearly can remember my father laying on the bed, crying – we had never seen dad cry in our lives, he was a tough man who rarely let his feeling show… this was heartbreaking to see our dad falling to pieces unable to cope at all! Mum was lost, she really didn’t know what to do, or how to get her head around this.
Around 6 weeks after our blood work we were given our results regarding our CK levels which were a great indicator or Duchenne, and at that stage the only way they could tell us if we were or were not carriers as Paul’s mutation was yet to be discovered…. As expected Paul’s muscle biopsy confirmed his diagnosis. Carrier status for us girls was Mum was definitely a carrier, I was definitely a carrier & My sister Jo was borderline for being a carrier…. it was hard to hear these words. I had always imagined since being a little girl, growing up getting married and having some kids, now they were telling me there was a 50% chance any children I had would have this disease or carry it! It was a heartbreaking revolution.
As the months past, we tried to deal the best with could with this new journey our family was now on. My Little brother asked a lot of questions and we answered them the best we could, it was all new to us – every aspect of the disease was eye opening and completely alien to us. I remember clearly being so angry at my mum (sounds horrible I know). I was angry she had passed this horrible thing onto me - looking back I know that was unfair, my mum didn’t even know she was a carrier until my brother’s diagnosis. It was my brother’s soccer coach that noticed my brother was walking different, running different etc. – he was a nurse and had seen this disease before…. He mentioned it to my mum and dad, who took my brother to see the GP, Paul had been having a lots of falls and seemed clumsy, he was walking on his tippy toes a lot and they just knew something wasn’t right – never in a million years though did they expect the words your son has a terminal disease.
Our family adapted to our new way of life, we just accepted it and moved forward, as heartbreaking and upsetting it was to see my little brother go through this journey, it also taught us a lot about ourselves, we realized we just had to take what was handed and get on with living. My Brother Paul was never treated differently by us, he had wheels we walked that was the only difference, he experienced more in his life than most 80 year olds can say they have. Paul was never excluded by us in any activities, he still went beach fishing, quad bike riding, abseiling, canoeing, swimming, paddock bashing, shooting and so much more, he was not afraid to try anything and inspired all who met him. He never complained or moaned about having Duchenne he just took it in his stride, so to speak.
In 1991 married my best friend and soul-mate Mark, I was 22 he was 19 and everyone was so worried we were making a mistake – I knew it was the right path from the start, from the moment we met I knew we were destined to be together. Getting married was wonderful, but with it came some worry – Mark knew I carried DMD, but it made no difference to him, we talked about kids, we both wanted them but were unsure if it would happen.
Eventually we made a joint decision to try for a baby, when we made this decision I had a call from my sister to say she thought she was pregnant; I was with her when she was given the news she was indeed having a little bubba – I was so excited for her, the Duchenne was not even given a thought at that moment at this stage our brother Paul was in a manual wheelchair, he could still stand but we knew it was only a matter of time and he was going to need a power chair.
My sister was given lots of options, the doctors said because she was unsure if she was a carrier or not it was best to have prenatal testing done. She was told a CVS was the best option, but wasn’t without it’s risks and that the test could cause limb deformation or lead to miscarriage. It was a horrible situation, the test was still in its leaning stages, it was painful and my sister was shaken up after it to say the least.
There was about a 6 week wait for the results, which came back that it was a boy, but because they did not know my brother’s mutation they could not say if he would or wouldn’t have DMD, so it was a decision there was a 50/50 chance he would have the disease, what horrible odds to be making this decision under, I know my sister and her partner struggled with this unthinkable decision. In the end they chose to just go ahead and give my beautiful nephew a chance at life. In January 1993 my Nephew Josh was born weighing just over 5 pounds, born 4 week earlier than planned. I was there for the birth and fell in love with this kid immediately he was just perfect…. I remember thinking to myself, he’s fine!
Six weeks after his birth Josh was tested to see if he did in fact have elevated CK levels, the results where within the normal range, the news was so fantastic to hear that he did not have Duchenne (not that it would have changed how we all felt about him anyway).
As my nephew flourished and grew it really became clear to me that being a mother was something I wasn’t ready to give up on. Soon after Josh was born, we discovered that we were going to have a baby, I remember being so excited and happy, I remember my brother being excited at the prospect of having a new nephew or niece to bond with and enjoy. Our joy was turned to upset when I had my first prenatal appointment. The midwife who saw us demanded I have testing down to ensure I did not bring a child into the world with DMD, when I refused testing she burst out of the room almost taking the door of its hinges, it was upsetting and left me suddenly questioning my decision to have a baby at all.
As time progressed and our little bubba grew we fell in love with our bundle of joy every day that passed, on January 8th, 1994 we welcomed a baby boy Alex weighing in at 5lb 13 oz., born 21 days ahead of schedule. He was just perfect. I remember the Doctor telling us it was a boy, and my mum looking a little sad at that moment, knowing there was a 50% chance he would have Duchenne too, something at that point in time we really didn’t think too much about, we were just elated to hold our little man for the first time. In those moment of becoming a parent, everything stops around you, the love and bond you feel for that child is amazing.
This joy was very overshadowed in the month and a half that followed Alex’s birth, our extended family was all given a real blow when my 15-year-old cousin Lisa lost her battle with cancer. Lisa a beautiful girl who was so vibrant and kind was lost to us forever, it was heartbreakingly overwhelming, and bought home the reality of my brother’s life. The morning or my cousin’s funeral we got a call revealing that Alex did not have DMD, his levels were normal… it was a blessing. I remember my Pop coming up to me at the funeral and saying the news we got was so good and that Lisa was shining down on us. It was how I felt, something amazing happened on a day our family wished never existed.
In March 1995, Mark and I got a big surprise… we were expecting another baby, we had planned to have more children but later on, once they had found Pauls mutation, but we embraced this pregnancy – it was life’s plan for us, we were just along for the ride.
On November 12th, 1995 our daughter Jadi-Lee entered the world, 14 days overdue weighing 8 pound 10 oz. I remember crying tears of joy when the doctor revealed it was a girl! Yay a girl I remember thinking yes a girl no Duchenne…. (yes she could have been a carrier, but there was options). Jadi was tested just after her 16th birthday, she is NOT a carrier, our family was just so over the moon to hear those words.
During the next six years it was wonderful to see the bond my brother Paul formed with his niece and nephews – they were inseparable, and got into plenty of mischief. Paul’s condition had deteriorated but he was till hanging onto his amazing attitude and just living his life… we were all involved in his care, he would spend a lot of time staying at either my house or my sisters place doing all the things he shouldn’t be doing, smoking, drinking and breaking all the rules by not using foot plates, refusing to take steroids etc.
In late 2001 I had been feeling really ill for around a month, we were not planning on any more children, we had the pigeon pair girl & boy and were content with life – fate had other plans. I took a pregnancy test and found out we were going to have another baby, I remember thinking how will I tell Mark, he was adamant he didn’t want any more children. When I broke the news to him, he just said oh well just another baby to love… he also said please get me another beer…. lol. I am blessed to have such an amazing partner, he is the best dad ever and does so much for us all.
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When I broke the news to my parents and my brother they were happy, but I sensed worry. Paul condition had further deteriorated, and I know my parents were concerned that our baby may have DMD. I opted this time to have prenatal testing down, not really for myself – rather to put my parents, and brother’s mind at ease. We meet with the genetics counsellor and discussed our options. `CVS testing was done much more efficiently since my sister’s test, it all sounded ok, only problem they would only be able to really tell us the sex of the baby, as they were still yet to pinpoint my brother mutation. It was so hard, abortion was something I felt strongly against, however also feel is a personal choice.
On the day of the CVS test I remember being so anxious, I had never had any medical procedures and was terrified of what they would do, we had been told they could do the test either vaginally or though the stomach but was up to the discretion of the technician performing the test. I was relieved when he said he was going to go through the stomach and assured me it would not hurt that much.
Well it did hurt, it was horrible watching on the ultrasound screen as they passed a needle into my womb and took a sample of my placenta. The baby moved around a lot and to me seemed distressed, it took them 20 minutes to get enough samples, which included re-inserting the needle, it was very uncomfortable and traumatic.
The 24 hours that followed the test I was so terrified of miscarriage as the test had a 1% chance of miscarriage – small odds but enough to scare me. The genetics team organized a fast fish result so we would have the sex result the following day… the wait for those results was a horribly anxious time full of what if’s…. When the phone rang the next afternoon I was almost scared to answer the phone. I was greeted with a Hi Louise are you ready for your results – no I wasn’t, yes I was…those moments were horrible, then she spoke “I’m pleased to tell you” I knew in those moments it was a girl (as I had suspected) … I cried tears of joy as did my mum and sister when I called them. Mark was over the moon but said not that it would have mattered to him, he would love his kids no matter what. I have to say it was wonderful news to get especially good news to tell my brother who I knew was worried. Mark and I decided to give him the news and also ask him to be our baby’s god dad, he cried he was so overjoyed by the news, that’s when I knew having the test was the right decision.
Chloe was born on August 2nd, 2002 weighing 7lb 13 oz. My brother Paul fell in love with her at first sight, Chloe and her uncle/godfather formed a beautiful bond, and Paul said to us all “Chloe was here for him” that she was send to be here to comfort him as his life drew to an end – And I absolutely agree.
In the last 18 months of my brother life he developed Peripheral Neuropathy which caused him excruciating pain, it affected his nerves in his fingers and toes etc. it was so hard to see him in such pain, he went onto morphine to help with his pain, and still didn’t let it get him down. Mark and I spend every weekend on my parent’s farm spending every single moment we could with Paul, and I am so glad we did.
In late January 2005 mark & I and my sister Jo and her husband went away for the weekend so our nephew Josh and our son Alex could go motocross riding. Our Daughter Jadi stayed with mum and dad & uncle Pugs (Paul’s nickname). Paul had been unwell with a cold, but seemed to still be alright. On the last day of our trip we got a call to say Paul had been taken to the hospital… we all headed home to get the news we really didn’t want to hear, Paul had Pneumonia. This was not good for someone with Duchenne, it was usually an irreversible condition without medical intervention that included a tracheotomy (breathing tube).
My brother Paul had made it clear on many occasion that we did not want any medical interventions, that when the time came he was going out on his own terms. On February 4th 2005 we were all called to the hospital as Pauls condition had worsened, his lungs were full of fluid and his heart was enlarged and floppy – it was only a matter of time. We visited with Paul till late in the evening. The doctors asked Paul what his wishes were, and it was hard to hear him tell them he did not want a medical intervention, and did not want to be resuscitated – as heartbreaking as it was, we respected his wishes. Paul was so brave he was calm and serene in his decision, a true hero. When I left the hospital that night Paul told me “I love you sis” and I said back to him “I love you too” ….
The next day we headed to the hospital, on the way I had a sense that something just wasn’t right…. We arrived and parked in the carpark then headed towards the hospital entrance…. At the door was my dad, on his knees calling us with his arm, telling us to hurry…. my heart sank, my legs ran as fast as they could to my father…. “he’s gone” he cried. Without a thought I raced into the foyer and headed for intensive care as fast as my legs would take me, in a dream like state. The office staff had alerted the nurses that I was on my way, I was greeted at the door by a beautiful nurse who took my hand and lead me through the curtains that surrounded my brothers bed, I walked in and there sat my mother by the bed, on the other side was a nurse holding my brothers wrist watching her watch, his heart rate was at 10 bpm, but he was clearly gone, it was like an empty shell, I walked over and looked on in horror till eventually there was a flat line and his heart has taken its last beat…. I can remember all of these moments, I can tell you exactly what that room looked like down to every detail, images I will never forget. I remember hugging my mum thinking what a brave woman to sit there and see that my brother’s wishes were met, it must have been so hard to not demand the nurses and doctors do something, she is the bravest women I know.
The hours and days that followed his passing were like a dream, even his funeral all seemed like an absolute dream. Chloe was only 3 years old and barely understood what was happening… our other kids and our nephew were hit so hard at the loss of their beloved uncle, us adults could barely cope we could only imagine how hard it was for these three kids who adored their uncle.
As the years pass I miss my brother Paul more and more every day, people say you get over it, you don’t! people say you learn to live with it, you don’t – you are forced to live without it. I remember the good times more than the bad, but those bad memories haunt me from time to time. My brother would never want us to just sit around crying – he wasn’t like that so I made a choice to not be like that; I have my moments we all do, but crying will not bring him back, we are thankful for the 26 years we had with Paul and wouldn’t change that.
KYE
In 2009 just after my 40th birthday I had an inkling that I would love another little baby – before it was too late… We discussed it and decided to try for another baby to even up the numbers…lol
Early in 2010 we had a positive pregnancy test, I would have been around 6-7 weeks pregnant – we were so thrilled and excited… the excitement was short lived when a week later I suffered a miscarriage, which was heartbreaking for us. I had never had any complication with pregnancy before or suffered a loss – it was a real blow to us! We named our little angel Klaudia-Rose. It was hard to try again, we thought maybe this was nature’s way of telling us we couldn’t have another baby, or shouldn’t have another baby.
We decided to try again, at 12 weeks testing revealed it was a little boy, we named him Ethan-Paul Richards on November 26th, 2010 our little man was born sleeping at just 14 weeks’ gestation due to complications related to coming into contact with the rubella virus and some genetic issues.
This was such a heartbreaking time for us, we were desperate to have another baby but it looked like this dream would not come to fruition. Yes, we had other children and many people pointed this out, however we were not mourning our living children we were mourning our lost angels who we never held. We said okay one more try, if it ends in tragedy then that was it, I was emotionally drained by the whole situation and totally heartbroken… I felt so bad for anyone who had suffered a loss, we had been lucky up until now to have no issues. About 3 months after Ethan was born we again discovered that I was pregnant, I didn’t get my hopes up this time even at the scan at 7 weeks that revealed the baby’s heartbeat I couldn’t allow myself to get my hopes up…. At 9 weeks I started to bleed and headed to the hospital, I hoped I was wrong but somehow knew I was miscarrying – it was the final blow that I could no longer take, our baby Jordan was born at 9 weeks, the next day we buried our baby on the farm, and that was when I closed my mind to having another baby and withdrew from the world for a bit.
After these three losses I went onto the contraceptive pill, unable to take another loss, not wanting to bring anymore heartache to our family. I was totally shocked to discover in 2011 that I was in fact pregnant while taking the pill, I hadn’t missed any, I had taken it as directed – somehow I was pregnant…… it was scary and exciting all at the same time. We were very hesitant in announcing the news till we had some testing down and got past that 12-week stage. It was a tough and at 11 weeks when I had a bleed I expected to miscarry but the scans showed that everything was ok and the bleeding couldn’t be explained, it stopped. Just after 12 weeks I had CVS testing done that revealed It was a boy… I remember saying to Mark I know it’s a boy with Duchenne, somehow I just knew it… we had always said we would probably terminate the pregnancy if it showed DMD, but boy it’s easy to say something when you are not in the situation, when faced with the reality of this statement it’s not so cut and dry. At around 15 weeks we got a call to let us know the baby did inherit the mutation, which they had now pinpointed from my brother’s DNA – it was a blow, I remember making the appointment to end the pregnancy, then being unable to go…Two day later our decision would be put on hold when our life was turned upside down. Our son Alex was involved in a serious car accident, they were unsure if he would live or die for 3 days, his injuries were severe, he was the sole survivor on his car, his three young friends lost their lives in this horror smash…A decision like DMD seemed so small at that point in time.
Mark and I made a joint decision to continue the pregnancy and give our little man a chance at life, Alex’s accident showed us that all our children’s lives are not certain, we made the decision, along with a pact to never look back or question our decision, to move forward and take whatever life throws our way. After nursing our eldest son back to health from injuries including a broken back, damage to his frontal lobe, reconstructed knee, metal plates in his wrist, skin grafts and the reattachment of his fingers to his other hand, not to mention the mental scars that he still carries, the pregnancy continued – it was hard is an understatement.
On March 28th, 2012 Kye was born not breathing, it was so scary and upsetting to see him lying there grey on the table, but within minutes the doctors had him breathing and he turned a beautiful pink colour, my heart stopped in those moments. I remember thinking, he’s already proving to be a little fighter, a warrior - look out Duchenne he won’t let you beat him!
Many people have judged us for knowingly bringing Kye into the world with Duchenne – and it has been hurtful, but everyone is entitled to an opinion, what is right for one person or family isn’t necessarily right for another. We gave our boy a chance a life and don’t regret that for one moment, we are making it our mission to give him the best possible life – let’s face it none of us know what is around the corner, and there is so much hope in the world or research, I believe they will find something in our son’s lifetime to help all those with Duchenne, without hope what is there! Duchenne will not define our family or who Kye is - it is just a reality of our lives.
On November 6th, 2013 fate bought into our world a little boy named Jack, who was an absolute surprise package…. After a hectic pregnancy with serve placenta Previa Kye got a little baby brother who I’m happy to say does not have DMD, he was sent here for Kye, a little play mate for Kye to grow up with – and they are best of mates. We had prenatal testing with Jack and at 9 weeks we discovered it was twins, however I miscarried Jack’s twin at around 11 weeks, at 13 weeks we got the news that Jack did not have DMD.
Kye is now 4 and everyday it’s clear that Duchenne is there, but we make it our mission to make it all a normal part of our lives, we incorporate his needs into our family without upheaval, we try to make this just part of our life without letting it get us down for too long, we do have our moments as everyone does, but for the most we are positive!
We have much more of our story to tell, please like our page on Facebook and sign up to our mailing list… take a look at our blog that has heaps of stories new and old about the Journey that is Duchenne.
