On January 26th, 2021 I entered the Maternal & Fetal Medicine office for what I thought was a routine ultrasound. Spoiler alert: it wasn’t.
During my 20 week anatomy scan, the technician informed me that she was unable to get a clear view of Amelia’s right hand and I would need to come back in 2 weeks to have another scan. 2 weeks later I was told they still couldn’t see her right hand and I would need to consult with my OB. My OB told me she was going to send me to a high risk office, which was Maternal & Fetal Medicine, because they had a better chance of getting the images we needed in order to complete Amelia’s anatomy scan.
I wasn’t worried at all as both technicians had informed me that Amelia’s hand was behind her head and that was the reason they couldn’t get an accurate scan. I even laughed because it seemed SO typical she would be hiding her hand as Ethan was notorious for not cooperating during his ultrasounds.
When they took me back to the exam room, I hopped up on the table and excitedly waited for the scan to begin so I could get another look at my sweet girl. The technician came in, introduced herself and got straight to work. She FLEW through that scan. She quickly pointed out the kidneys, the blood flow to the cord, the eye sockets…on and on until she abruptly shut the machine off and turned to me. “Dang, she must be in a hurry” I thought as she looked at me. I was a little disappointed because I felt like I didn’t get a good look at Amelia or have anything explained to me as they typically did during the scans.
“Sara, do you know why they sent you here?” she asked me hesitantly.
“They weren’t able to get a good look at her right hand” I answered, starting to feel like something was off.
“Well, there’s more to it than that. We need to bring the doctor in”.
My heart stopped.
As it turns out, Amelia’s hand hadn’t been hidden, they had seen it clear as day. The issue was, they hadn’t seen any fingers. Amelia was then officially diagnosed with Symbrachydactyly.
Symbrachydactyly is a rare hand defect in which the fingers are webbed, conjoined, not fully developed (presenting as “stumps”) or completely missing. This defect is found in approximately 1 out of every 32,000 babies and, in most cases, has no known cause. Some children with genetic conditions, such as Poland Syndrome, can present with Symbrachydactyly but the majority of cases are thought to be caused by an unexplainable lack of blood flow to the developing digits. It cannot be prevented & it cannot be inherited – it’s simply a fluke.
In Ameila’s case, at her initial diagnosis we were told to expect for her to have a fully formed thumb, fully formed pinky finger & possibly one other partially formed digit. I spoke with a genetic counselor to rule out any underlying causes or issues and then was referred to yet another office at yet another hospital to speak with their team of specialists.
Two weeks later I had my appointment with the high-risk pregnancy team at Johns Hopkins hospital and at that appointment, we received the news that she in fact has no fingers on her right hand – only a partially formed thumb.
Our lives have been a whirlwind these past few weeks and our stress levels have been at an all-time high. There have been so many appointments, phone calls, video chats – all with different doctors from different departments – and of course, due to COVID, my husband has not been allowed to join me at any of these appointments. I consider myself to be a fairly strong individual, but it’s been so hard to go through all of this without Stephen by my side. Sure, he can drive up with me and wait in the car and I can relay the information to him afterwards – but it’s not the same. He’s not getting all of the details, asking his questions, hearing it firsthand. As for me, I’m getting this life-changing diagnosis and I’m alone. Someone is telling me that my child won’t have a hand and I’m trying to keep it together while simultaneously getting all of the information, making all of the appointments, doing everything they need me to do and there’s no one there to help carry any of the weight.
We have a meeting with an orthopaedic surgeon at Johns Hopkins next week, to discuss what care Amelia will need following birth, if any, and get an idea for what her future will look like. We’ll then go back the following week to do another ultrasound and try to get updated images of her hand. From there? We really don’t know what the plan is yet.
What we do know is life is going to be hard for her. There’s no point denying it. She’ll have to learn how to do everything one-handed and she’s going to have to deal with people staring and asking questions and because we live in a cruel world – being unkind to her at times. There’s nothing we can do about that, but what we can do is make sure that we do everything in our power to help her. If she needs adaptive devices, such as special utensils for eating, she’ll have them. If she needs someone to talk to, such as a therapist, we’ll get her one. Nothing will be off limits to her – she’ll be supported and encouraged to do whatever it is her heart desires and we’ll be there to cheer her on and help her every step of the way.
It’s important to us that she grows up knowing that there is absolutely nothing wrong with her. She was born different, but that doesn’t mean she is any less than anyone else. She is perfectly imperfect and loved beyond measure.
If you’re interested in learning more about symbrachydactyly, I encourage you to check out “The Lucky Fin Project” (https://luckyfinproject.org/) – it has been a great source of information and support for us over these last 3 weeks.
