You will never forget the day a doctor tells you your child has a rare disease. They use medical terminology you’ve never heard before and in our case gave us the three academic papers published on the disease. They had never treated the disease before.
Our disease was only discovered in 2009, was genetic and it was obvious that as well as my son, my wife also had the disease. They told us that there were only 12 reported cases globally, and we were the only ones in our country. It was a bit of a relief getting the diagnosis as my wife had the symptoms all of her life and our son first showed symptoms at 10 months old. At this stage he was 7 years old.
Statistically, we had a better chance of winning the top prize in the lottery in three countries. Luckily, although our disease is life-limiting it is not life threatening.
Every experience is different, but here are a few practical things I’ve learned by being the husband of an adult and father of a child with an ultra-rare disease:
You are the expert when it comes to your child.
We are all conditioned to believe doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training and perhaps most important, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat you. However, when your child has ultra-disease, most have never heard of the disease never mind seen a patient like your child. An excellent doctor will acknowledge that the parents are the experts when it comes to their child’s rare disease and ask for your input.
Again, when the diagnosis is rare, parents may know more than the professionals. Parents have often lived with the child’s symptoms for years and if the illness is genetic, one of the parents may have lived their lives with the symptoms and they know the personality of their and their child’s aetiology.
Ask a friend or a family member to go to appointments with you to take notes (or record the appointment).
Medical terminology and genetic information gets confusing fast, especially when hearing it about your child. In time you will begin to understand it all, but in the beginning it will confound you.
Don’t be afraid to seek grief counseling.
This diagnosis will change your life in an instant and take you on a wild, emotional roller coaster ride. Your marriage, family, career, finances, emotional well-being and personal health will suffer from this diagnosis. Seek guidance.
Take care of yourself.
You hear it every time you fly on an airplane: Please secure your own oxygen mask first before you try to help others. Most parents constantly fail in this department, but it really is one of the best things you can do for your family.
If you don’t advocate for your child, nobody else will do it for you.
You can do as little or as much as you want, but it all begins and ends with you. That said, there are many individuals and organizations here to help you navigate your way. Some of my best resources are other parents farther along on this journey. Network with them via social media and ask for their guidance. Rare disease organizations, patients and parents are gaining a stronger presence each day.
Don’t rule out science.
Our child was diagnosed through whole exome sequencing after being undiagnosed for years. Advances in genetics are being made literally daily. Check out our blog.
Allow others to help you.
Your friends and family will feel helpless. Sometimes the best gift you can give others is allowing them to help you.
You will learn to live in the moment and enjoy your child even more.
There are tough days ahead, but there’s also an abundance of love, joy and precious moments with your child. Treasure them.