HELP! My Baby Was Just Diagnosed with a Rare Disorder!

See if this scenario sounds familiar: A doctor tells new parents that some of their baby's tests have come back with abnormal results, and that their baby has been diagnosed with a rare disorder. The doctor is not familiar with this syndrome because of how rare it is, so gives the family the name of the disorder, maybe a little basic information from a medical website, then tells them to schedule with a genetic counselor/ geneticist, and leaves it at that.

So the parents leave the office, stare at their baby, and then burst into tears. They never expected that their sweet baby would have any medical struggles. What did all this mean? They need answers, and they need them NOW!

So they rush to ask dear Dr. Google all the questions. What is (fill in the blank Disorder)? Everything they read terrifies them, and the whole experience feels surreal. They find a tiny website dedicated to this syndrome, as well as a small facebook parent support group and join immediately, often before they even have told their own family. They ask the parents in that support group what to expect. They want to take a glimpse into the lives of other families living with the same condition and to get an idea for the prognosis for their child.

And then, something incredible happens. They become an instant member of a new family. The community surrounds them with love and support. The other parents tell stories about their own family member with the same diagnosis. They share encouraging stories of success, some ideas of what to expect, send "Welcome to Holland" to the new family, and the parents cry all over again. 

So then the parents research and research and research some more. They feel like they have to learn everything RIGHT NOW! Speech therapy, MRIs, g-tubes, physical therapy, DEXA scans... 

The family goes through wave after wave of emotion. They sometimes feel empowered and ready to change the world for their child. Other times, they feel like they can't even get out of bed. Some days, they get angry at the world and feel jealous of the other families who don't have endless doctor and therapy visits. 

All of that is normal. It is part of the Grief Cycle, and the parents will learn about it more and more over the years. They slowly learn that it isn't a process where there is a start at Denial and end at Acceptance, but a circle that goes around and around. Eventually, they will spend most of their time in Acceptance. But it takes time to get there. And that is okay. 

At first, the parents will feel overwhelmed. There is so much to learn! Their child has a team of doctors whose specialty the parents struggle to pronounce, there are medications and tests and labs to keep track of, they have no idea what IEP, EI, ADA, and IDEA mean, and they think an Occupational Therapist is someone who helps you with your career. Medicaid vs Medicare? What is the difference? What on earth are waiver wait lists for services?

But with the help of their newly discovered support community, the new family figures it out. They get used to therapy appointments, handle EEGs like a pro, and take a million pictures of their adorable baby. They look into that baby's eyes and realize that they would do anything for them. So yes, life looks a little different now, but that is okay. Grief still comes and goes at times, but the family learns to appreciate life in a way that never would have been possible otherwise.

That new community that accepted and helped them immediately? They are like family now. They cheer on each other's successes, and commiserate over struggles. As their baby grows and develops, they realize that they love this life they have been given. And one day, when they pop onto that support group, they see a new family asking "My baby was just diagnosed with this condition! What do we do?" and they realize they have the answers and are ready to help. 

A Couple Tips for Newly Diagnosed Families:

1. Look up your local Early Intervention program. They will have lots of resources in your area for you.

2. Contact your state's Parent to Parent (sometimes called Family to Family) network and get a mentor to help you. They can walk you through Medicaid waivers and insurance and finding specialists

3. Enjoy your baby! Every new life is to be celebrated, and I am sure you already know that. Your baby will bring you so much joy that you will not be able to imagine life without them.