What Parents Need to Know About Having a Child With a Rare Diagnosis

Hope is only lost when we give up hoping.

It may seem right now like there can be no hope. Maybe that is all you hear from the medical professionals around you, but remember: your child’s future is still in the making. There is so much still unknown; there will forever be so much unknown.

Charlotte’s son

Statistics are based only on what has happened previously – if we change our expectations, we change our actions and we could change children’s outcomes. Never be afraid to advocate, to promote, to share your story.

Having a diagnosis of a genetic condition no one else seems to have, a chromosome combination no one has seen or maybe not even that much of a “diagnosis” may seem lonely, but you will meet amazing parents, advocates and friends along the way. You may never meet them, but they will be there, on a group page, at a stupid o’clock of night just when you need them.

Your heart will soar when their babies succeed and break when they struggle. You will get strength and inspiration from their battles and achievements. There will be those who lose their battle along the way and your heart will break; the tears will be genuine. It doesn’t matter if others cannot understand that bond – it only matters that we are not on this journey alone.

There will be expectations for your child, which means some people will be expecting failure. Do not let them limit your child’s possibilities nor limit them yourself without first trying. Their future is unwritten and their potential is unknown, so help them to make the most, be their best and live their lives to the fullest.

author's son sitting in a stroller, wearing a red jacket and holding a green dinosaur stuffed animal
Charlotte’s son

Some days will be so hard you won’t know if you can carry on. You may feel broken by life, alone and defeated. You will survive, these times will pass, the wheel will turn and you will laugh again.

When people look at your amazing child with pity, be brave and strong. Look them in the eye, let them look your perfect child in the eye and change their opinions, challenge what society expects. Everyone deserves to know how awesome they are, and they will go away and spread that message of hope.

There is nothing “wrong” with our children. They just have bits that work differently, or bits missing, or extra bits! People will use this word – you have the right to correct them. You have a right to brag about your child.

We’re all different and that is why the world is so beautiful. Your child has made the world more beautiful simply by being in it.

They will teach those who meet them tolerance and patience; they will give you fear and heartache, sleepless nights and grey hairs; they will fill the world with laughter, joy and hope.

They are the children we were always meant to have.

My son is perfect. He is more than the number of chromosomes in his cells. He is more than a diagnosis. He is not a statistic. He is ours and nothing can take that away.

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