Nothing can prepare you for your child’s diagnosis. It doesn’t matter their age or if you saw it coming. It’s painful either way. My daughter, Ellie, was diagnosed at 15 months old, but I saw the red flags at 4 months. The day we heard Phelan McDermid Syndrome for the first time is forever etched in our minds and hearts. My husband and I felt a myriad of emotions. Oddly enough, it was a relief we felt first. I had spent months hardly eating, trying to get her doctor to take my concerns seriously, and falling down the rabbit hole Googling symptoms at all hours of the night. I didn’t know it then, but I was already becoming my daughter’s advocate, which has become my greatest passion. Fear, anger, guilt, anxiety, and all-consuming grief came after the relief of having answers. I felt as if someone had taken our idea of what we thought life was going to be like and shook it up before handing it back to us. I’m so thankful I saw the red flags and trusted my gut even though her pediatrician vehemently insisted that she was fine. You’ll find your fighting voice and learn you often times have to go with your gut on this journey.

The PMS community is like coming home. We were so lost before and immediately after diagnosis. We didn’t have any friends or family who knew what we were going through. When I requested to join the family support group on Facebook, I immediately unlocked friendships from all over the world! We had found our people, our village, our home. I’m eternally grateful for the PMS families who picked us up from the trenches in the early days. Everyone is so willing to help share their experiences, give advice, and answer questions no matter the time of day. This community of parents, caregivers, siblings, and other family members will take your burdens and carry them with you.

I used to obsess over milestones, it’s hard not to when your child isn’t meeting them. Some of the most exciting ones for us so far have been sitting up, self-feeding, and cruising. There were so many uncertainties in the early days it was hard to imagine these things ever happening. It’s indescribable witnessing your child meet big milestones. There’s so much to admire in our children. They work so hard to do things that come so easily to others. We learned while waiting for the big stuff to happen to also celebrate the “inch stones” that come in between. We love celebrating them with our families, friends, therapists, and PMS families.

I want you to know it’s okay to feel grief and joy at the same time. Read that again because it is SO important. I didn’t know that in the beginning. It’s okay to be human. You’ll love harder, cheer louder, and take nothing for granted. Your new “normal” will be beautiful.