Guest post by Linda Morbin, about her daughter with TSC
Just imagine you’re a parent. Maybe that is not difficult to do, because maybe you are. Just imagine that this little beautiful bundle is the most precious, beautiful thing you have ever laid eyes on. Your heart swells with love and pride, and a complete need to protect and love this child forever. Then imagine that something is not right. You can’t put your finger on it but, you have a feeling that there might be a problem. It’s maybe the slight tensing of the body or a certain disconnection. You’re just not sure. Mile stones are not being reached. We don’t wave bye bye, we don’t clap hands for Daddy and there is silence. No sounds or words. You try to tell yourself that all children are different. Some just take longer, it will be fine. Deep down there is a nagging pain in the pit of your stomach. It won’t go away.
Just imagine that one day you find yourself sitting in a hospital waiting room with this beautiful child. She is distressed. She doesn’t like all the attention. She hates being touched and examined. She doesn’t like strangers, but you tell yourself it’s worth her discomfort because they are going to tell you that everything is ok. That the condition they thought she might have, isn’t there. They made a mistake, and the tests show she is well, and healthy and that she will catch up with all the others eventually. Just imagine they don’t. They tell you that your beautiful smiling little girl has a condition that will impact on every part of her life. It’s genetic. She will be mentally and physically affected it by it. She may never speak. Her behaviour will become challenging. She will need specialist schools. Her epilepsy may never go away or even be under control. Her kidneys may be affected. She will have tumours in every organ of her body. She will be likely to have Autism. Your legs start to shake and you can’t stop them. You feel your teeth clench, and you feel every muscle start to tighten in your body, as if you are bracing yourself for the blow that is being dealt to you. You look at your husband and see he too is bracing himself and struggling to process the words that are being said. You are not sure if the pain you are feeling is for you, or him, or your child. In an instant your life and the lives of all the people you love have been changed forever. They tell you not to go home and look it up on the internet. You do.
Just imagine that somehow you pick up the pieces. You work so hard to learn about everything you can in order to help your child. You study and study, and read everything you can get your hands on to learn and educate yourself about your child’s needs.. You learn how to become a different sort of parent. You have to, you have no choice, or you know you will fail your child. It’s not an option. Remember, you promised to protect her forever? Slowly little milestones are reached. They might not be the ones you dreamed of, but you celebrate them with a sense of pride and happiness that other people can only imagine. Life is different but not less, in fact you look at the world in a new way. You have learnt very quickly what is important. What matters most. You listen to other parents stressing about their children’s reading levels, or how awful it would be if they didn’t pass their ballet exam. You nod and sympathise with them, but you are not really feeling their concerns, as you have just come away from a hospital appointment where you have had to coax, bribe and wrestle with your child, so that a doctor can measure the tumours in her kidneys. As difficult as it is, there is part of you that feels quite smug about the fact that you really know the value of the gift of life. You are part of a privileged club who have been to life’s boot camp. You have learnt how to survive on little sleep, how to work hard to focus your time and attention between your other children and your poorly child. How to fight to protect your marriage and make sure everyone’s feelings are taken into account. Most of all you have learnt to survive when you did not think you could, and you have learnt to navigate an education and health care system that you didn’t even know was there. You wear your badge of “warrior mum” with pride. Still that pain in the pit of your stomach won’t go away. It still hurts years later, it’s every bit as painful even though my little girl is a teenager now.
Just imagine that one day a bunch of dedicated brilliant scientists discover that a fungus growing on the Easter Islands in the pacific, contains a drug that has an amazing ability to stop some of the tumours growing. They have discovered that it halts and shrinks the tumours in the kidneys. Its early days but it’s exciting news and you realise that one day in a worst case scenario, this drug could save your child’s life. You watch the results of the trials for the drug. Years earlier knowing there was no cure for your child, you made a conscious decision to never hang your hopes on looking for a cure. The internet is full of thousands of “miracle cures” and therapies but you decided that you would rather concentrate your energy on helping her now, instead of risking the crushing disappointment when yet another therapy failed. This time it’s different. The medical trials for the drug show amazing results. Just imagine it gets better. The scientists have discovered that while doing trials for shrinking the kidney tumours, the patients who also had Epilepsy discovered that at the same time their Epilepsy also improved. Now this is getting exciting. They conduct morel trials to use the drug for Epilepsy treatment. You realise that your child could also benefit from this drug for her Epilepsy too. Just imagine it gets better still. They have now discovered that the drug developed from a little fungus growing on an Island in the Pacific actually seems to stop the fault in the pathway of the gene which caused the condition in the first place, and more amazingly it seems to improve the cognitive functioning, the Epilepsy and the tumour growth, of the patients who have been placed on it. It’s very early to claim it’s a cure but you cannot help but be optimistic for the first time in years. What is known is that it is already established as a successful treatment for Kidney tumours and is already helping people improve their lives with control of their Epilepsy.
Just imagine then, that your child develops problems with her kidney’s. The growths are affecting the function and causing her pain. You are terrified. You ask the doctors for the drug you know can help. Just imagine they say you can’t have it. Why? The reason is that NHS England has a scorecard system for the drugs it has a prescribing programme for. If your child has a relatively rare or unusual condition, then it will not score highly enough and will not be prescribed by the NHS. You will not be able to get it to save your child. Just imagine that.
Just imagine if enough of us lobby MPs to request a change to this NHS England policy. At the moment it may not be reviewed until 2018. By then it will be too late for many children. The Tuberous Sclerosis Association and other charities have already gained the support of some MPs who are trying their hardest to get the drug Everolimus approved. Just imagine if you knew that your child had a real chance of a healthy, happy future. We can do it. It’s election time, and MPs everywhere are knocking on our doors, asking us to vote for them. While they are standing on our doorsteps, we can ask them for their support in getting this drug to the children who need it. We can share this issue on social media and sign petitions about it currently doing the rounds on the internet.
Just imagine if this was your child. What would you do to help them thrive?