This has been such an emotional journey so far. Had a good cry with my husband the other night, and tried to explain to him again where I am coming from, and why I am so sad and angry. I don’t know about everyone else but I am so angry these days! I see people feeding their kids crap, ignoring their kids, not strapping them in seatbelts (and all of the above is common here in Singapore), and it makes me so angry because I have done EVERYTHING right by my kids and yet my son has this disease. It makes me angry knowing their kids will probably grow up and live long lives despite all the wrong things their parents have done! I just don’t understand why it happened to our sons. My mum says that God chooses special people to look after these wonderful kids whose lives are compromised. I no longer believe in god though – I can’t understand why god would do this to such perfect little human beings. And I’m not just talking about MD, I am talking about all those horrible diseases kids are stricken down with. I am sure that everyone in this boat has seen their fair share of this and I am sure it breaks your heart each time. I bet you never thought it would happen to you though, and never even thought how you would cope if it did. I know I didn’t. I still wake up and think it’s all a dream. My heart is broken and I don’t think it will ever be mended! But I need to keep going on and being optimistic for my son. Each night, we massage and stretch his legs and each night he tells us that it hurts, but he knows we have to keep doing it if he wants to be strong like Superman. Isn’t it ironic, that superman is his hero?? The man of steel! I hate the irony!
Anyway, some background history about James - James was born 3 days late after a torturous and long 34 hour back labour (born in Tokyo, and the Japanese don’t believe in epidurals – ouch!) He was perfect when he was born, though he had some meconium aspiration and stopped breathing 4 times in the next 24 hours due to the meconium clogging up his airways. In the end, we left hospital when he was two days old and thought nothing more of it. He achieved all his milestones at the normal times, although he hated tummy time and he never crawled. People told us he would catch up, but when he started walking just before 12 months, we forgot all about it. He could walk, but he kept falling for no reason. We never realised it at the time, and just thought all kids learning to walk fell constantly until they truly found their feet. It never bothered us that he couldn’t run (he tried but it was a kind of waddle). He had a permanent bump and bruise on his forehead where he kept hitting each time he fell! When we went to check out his new preschool, we were amazed that there were no padded mats or carpets on the floor as we were scared to death about James falling. We didn’t realise it wasn’t like this for other kids. He never moved on the change table, he never stood up in his cot, and he rolled everywhere!! It wasn’t until our daughter Charlyse (who is 12 months younger) started walking that we noticed the differences in progression. Suddenly, she was catching up fast! His speech was also delayed, and became more obvious as he started going to school (at 18 months, 3 hours a day for 2 days per week – purely a social interaction decision). On father’s day in 2006, I took him to the kids clinic at a nearby hospital, and informed the doctor of my concerns. I actually thought I was just being a paranoid mum, and that he would need nothing more than some PT and OT and ST. Imagine my surprise when the doctor told me he most likely had MD! I knew exactly what MD was, as I remember a young boy being in the news when I was a young girl – he was 8 and he was dying from it! I cried all the way home, and text messaged Julian on the way. When I got home, we just fell into each other’s arms in the car park and cried. And I think we have cried ever since! I know I stopped eating – I was full of too much grief. When the kids were around, we acted as if nothing was wrong, though I wonder if they noticed they were getting a lot more hugs than ever before? When they went to bed each night, we fell apart!
We have been very lucky with James’s treatment so far. We found a really nice doctor here and she put him straight on Prednisone. He went from 12.5kg to 16kg in two months! He was always a little underweight, but this was ridiculous. IT was at this time that Julian’s sister met a lady at a party who just happened to be best friends with one of the best DMD doctors/researchers in Australia. Her name was Kristi Jones and she is attached to the Institute of Neuro-Muscular Research at Westmead Children’s hospital in Sydney. We got in contact with her, and within a week Julian was flying down with James to meet her. She started James on the Deflazacort trial, and it has been fantastic. He is now running, jumping, climbing, almost hopping, swimming unaided like a fish, and racing up and down steps without any help. His weight has increased a little more to 22kg, but he isn’t fat. He looks like a little rugby player! His face is becoming a little round, but that’s about it. I have to say, his behaviour has changed quite a lot, but I am not sure if that is his age, the steroids or typical DMD brain (dystrophin is used in the brain for cognitive, communication, memory and speech skills). I find he gets irate easier, and sometimes cries for no reason, but the benefits have certainly outweighed the negatives. He is a seemingly normal little boy now, and his speech has pretty much caught up (thanks to some great advice from a speech therapist and some constant work at home). He goes to physio once a week for an hour, and that has also had some great results.
We had James’s genes tested and he is found to have a “single-point mutation leading to a premature stop codon”, or a non-sense mutation. I was also tested and found to not carry the mutation, so they assume it was a spontaneous mutation at conception. That was something of a relief (if it can be called that!), knowing that I probably didn’t give him this disease – I can’t imagine being faced with that knowledge! Still, when I found out I was pregnant with my 3rd child (and I had had 4 miscarriages in the 8 months leading up to it, probably because of all the grief I had inside) I had all the testing done, as there is a 10% chance your eggs might contain the mutation. I found out I was having a girl (had a CVS at 11 weeks), so we didn’t have to continue with the DMD testing. Thank God! I had moments during my pregnancy where I wasn't sure if I have done the right thing, but I also think that this baby’s cord blood may save James in the future (with stem cell treatment), so it is something we really needed to do as well as wanted to do! So we now have a gorgeous little girl called Saraya Grace, and she and James seem to share a special bond - if only they knew how special!!
I have chosen not to get involved with the MD camps or outings at this stage. I don’t think I would cope, and I don’t want to shatter Julian’s optimism. I see my little boy right now and he is seemingly normal, and I don’t want to see him in any other way. I have a hard enough time reading about older boys, and the difficulties they are facing. I just can’t confront them face to face at this stage. I read about it, to prepare myself mentally and emotionally, but I just can’t see it in person. I find my emotional wellbeing is still so fragile that something like this might tip me back into the deep depression I have been trying to avoid. I call it selective naivety!