Due to the progress of genetics research in recent years, thousands of parents and children worldwide are receiving their genetic disorder diagnoses.
To many, it’s a shock - especially if the diagnosis comes when your child is still just a baby. How will his or her life be? What will your own life be like from now on and forever?
To others, getting the diagnosis is long awaited clarity. You finally know, what it was exactly that hadn't been right. You learn for the first time what health complications to test for, and you are looking for resources with your paediatrician and online to help you better navigate your care for your special child.
What are the first steps?
Don’t panic. Get the facts.
get the exact diagnosis, with the exact mutation and its type, all the letters and numbers
consider that each child may have more that one mutation, ask your paediatrician and your geneticist about your child’s exact genetic diagnosis
remember that every child is different and their development over time will be different too
search the net, including Google, Facebook, LinkedIn and Twitter. You will find parents groups and information resources, as well as people who work in the field of genetics on the latest methods of diagnosis and treatment.
2. Make a Plan for your Child
Which specialists do you need to see?
Ask your paediatrician for tests and referrals to any specialists you may need. Go through
the list of issues relating to your child’s mutation. Eye sight, hearing, nerve conductivity, heart, kidneys and bladder, autistic spectrum assessment are some of the issues or assessments you may need to look into for your child, to take action early, if needed.
Take a deep breath and tell yourself that you CAN make a difference to your child’s development, not just through medical care but also through nutrition (please see my article on PiCA and the supplements your child may benefit from here), and through therapies.
Physiotherapy doesn’t only develop the body’s strength and coordination, but it also develops the mind-body connection and contributes to speech and mental development!
Speach and Language therapy (SALT) is a must for most children with a genetic mutation. It will help them to express themselves, to communicate with others, to get understood.
Occupational Therapy (OT) will help your child develop their motor skills and become as independent as possible over time, including doing buttons and zippers (those can take a while!), getting dressed and undressed, writing!, using keys and key cards, using utensils to eat, etc.
The therapies can be provided by your local authority or your healthcare provider, and there are a lot of free resources. In the UK, your paediatrician refers you to a physio assessment, as well as a SALT and OT assessments. Once done, a programme is written up and communicated to you and to your child’s school.
Private therapies are expensive, but effective. You may want to consider creating a new spending category, which is a worthwhile investment, the earlier the better. Overtime you can manage your budget and see how many hours of therapy for your child you can afford, and how often.
3. Make a Plan for YOU
It is not going to be easy on you and your family. As they say when you fly on an airplane, "fasten your seatbelt before helping your child", or "put your oxygen mask on before helping your child". You are your child’s main resource, and you cannot fail. You must last a long while, and last well.
What can you do for yourself?
Ask for help from family members. You will need their time to help you.
You may need a carer or a nanny. In the UK, a child with special needs can apply to an organisation called Short Breaks, details of which are available through your local council's Special Educational Needs (SEN) Department. Short Breaks will assess your child’s needs and provide you with a budget for a part time carer, the idea being that you get your short break. Many boroughs also have organisations called Parents Active. Do join for support and advice on what local help is available to you.
Consider finding emotional support for yourself. This is of enormous value to your wellbeing longterm. Psycotherapy sessions can bring relief and wisdom. In the UK, there are several organisations and charities that provide free or low cost psychotherapy, including Community Living Well.
Antidepressants are a scary word for many, and are perceived by many to have a zombie like effect on people. That’s outdated by 50 years. If you are finding that you feel stressed and anxious all the time, please consider that over time you are damaging your body with excess cortisol, and are shortening your life, and are growing impatient with your loved ones, even with your special angel. A minimum dose prescribed by your doctor may be all you need to level out your stress.
Please think about spending time outdoors, doing sports, finding time to read, to relax, to see good friends, to get a massage, to live and enjoy your life. Your good physical and mental state are of crucial importance for your special child’s care.
The thing about special needs is that most people don’t have any. Genetic conditions are rare enough. Over the last centuries anyone with special needs was the odd one out, often alone in their village or in their entire area.
Today, we travel the world, communicate online across the globe, including on video, the world became smaller and it’s become easier for special people and their families to be together, to support each other.
The medical and genetic industry too has made a shift towards diagnosing, recognising and helping people with special needs.
In the UK certainly the society is very inclusive and very kind to people with special needs.
Being special is no longer a verdict for unhappiness and isolation, not for the special children or adults nor for their families.
As I write these words, I hope that you feel the support is there for you. And the unmentioned support is inside you. You aren’t even aware of the strength you have in you. You can do it. We can help.