Monday, April 8, 2019. It was a typical Monday – although to help you understand my state of mind on this particular day – I must add, it was following a horrible weekend. My husband had been gone the past three months for work, I attended a heartbreaking funeral, and a nasty stomach bug had taken me and the girls down. I was exhausted.
After a busy day at work, Cami had an appointment with one of her specialists and big sis had a ballet class. While waiting for the doctor, I remember feeling… focused. I was busy multi-tasking, feeding both girls peanut butter and jelly sandwiches and getting big sis in her leotard worried we’d be late for ballet. I do not remember feeling prepared for what was to come.
It was supposed to be an easy appointment. It was a rare appointment where I was coming with good news. Cami had recently began sitting independently so I was riding the wave of milestone achievement.
“So, I didn’t understand the results of her genetic tests – what did the neurologist say?” Everything stopped. I glanced at the doctor's computer screen as if I was going to see the results in big red letters flashing across the screen. What!? “I wasn’t aware the results were available.”
Cami had her blood drawn a few weeks prior. Despite an abnormal MRI and abnormal EEG, her neurologist was confident her genetic results would be normal. I had asked opinions from others and many agreed – she just didn’t look like she had a syndrome, so I wasn’t even thinking about the results. How long have these been available? Why hasn’t the neurologist called me?
She quickly backtracks as if she overstepped the invisible line drawn by fellow doctors that dictates who is supposed to share test results and who should not. I ask her for the results. She hesitates probably because she knows just how bad the Google search will be. She assures me the neurologist is likely reviewing the results and to expect his call soon. I promise her I won’t over-Google (yeah right!) and demand the results.
We head to ballet and the envelope with the results feels like fire burning in my pocket. Wait until the kids go to bed so you have time to focus on this. It’s probably nothing. It’ll be fine. In my gut, I know… this is serious. At a red light, I can’t help myself and I sneak a peek:
Type 2 4.9mB loss in 15q11.2-q13.1 chromosome consistent with Prader-Willi/Angelman syndromes.
What the hell does that mean?
My husband is across the country and didn’t have access to his phone often so I text him the results.
Act like nothing’s wrong during ballet. Drive home. Make dinner. Feed kids. I can’t eat. Open Google.
In my initial search, here is what I gather:
Prader-Willi Syndrome has many characteristics, but most significantly – an excessive appetite that can lead to serious health issues. People with this syndrome can’t tell they’ve eaten and feel they are starving their entire life. I cannot even imagine how horrible that would feel.
Angelman Syndrome is characterized by many developmental delays and disabilities, but what stood out to me the most – they can’t speak, not even much sign language.
Neither syndrome necessarily has a shortened life span – but there are risks. For example, Prader-Willi comes with risks of choking and food poisoning because they are desperate for food. The vast majority of those with Angelman syndrome have seizures, sleep disorders, and other issues that can pose safety risks.
Both require lifelong care. How can this be happening??!
My stomach is turning. Anxiety is rising through my chest. I’m holding back tears. Wait until the kids go sleep. Keep it together!
I share the news with a few friends and family members. One of my best friends calls me immediately but as soon as I begin saying the words out loud hot tears fill my eyes. I see worry in my three-year old’s sweet face. I can’t talk about this right now.
Bathtime. Bedtime.
I sit down on the sofa, take a deep breath, and start more research.
At one point, I hear my toddler coming down the stairs and scream, “GO TO BED NOW!” I know I scare her and feel so guilty, but I’m a mess and I can’t let her see me like this. With every article I read, photo I see, and video I watch, everything inside me is completely and utterly crushed. It was a heartbreak so awful I didn’t know the feeling existed.
How can this be? My baby – she doesn’t deserve this.
She’s just so sweet and happy – but, she’ll never get married, she’ll never have her own babies, she’ll never live on her own.
Her sister – OH DAMN, her sister – what am I going to tell her? They are supposed to be best friends and each other’s maid of honors. How can I possibly tell her that she may never be able to pick up the phone and call her sister? Oh God, what will she do when she sees kids make fun of her? Will she be embarrassed? Protective? Resentful? Please, God, help her face this. She doesn’t deserve this either.
I text my husband again. Where IS he? “Either way, I think this means she’ll never live independently – she will always need assistance.”
Hours later, my husband finally gets access to his phone. I can’t imagine what it was like on his end to suddenly see my many text messages take over his phone as soon as he turns it on. It’s nearly midnight when he FaceTimes me. The second I see his face on the screen, I lose it. I can hardly breath or speak through the tears as I try to tell him what I’ve been researching. “My sweet girl. Our baby. She doesn’t deserve this, she doesn’t deserve ANY of this. What the hell are we going to do?”
I can see it in his eyes that I’ve scared him too – he’s never seen me so broken and I imagine he’s trying to hold it together for me.
At 3:30 am, I woke to an incredibly vivid dream the helped me process what was happening and gave me the perspective I needed to begin moving forward.
THE DREAM: I was at a cabin with my mom and the girls. We were on the second story deck that had a staircase down to a large yard surrounded by woods. Our dog, Tex, was in a kennel in the yard (which is strange since we don’t kennel him).
A lion emerges from the treeline. He makes his way underneath the deck and begins attacking. He’s swiping at us from below – his claws slicing through the deck slats right where Cami is sitting.
We rush inside, slamming and locking a sliding glass door behind us. I’m watching this lion creep around the yard terrified he’s going to attack our dog who is defenseless in the kennel. Tex is whining, he wants out, he knows this is a dangerous situation.
Suddenly, the lion turns into a bear and storms up the stairs of the deck and attacks the glass door. The glass door is cracking under the weight of his giant paws.
I’m just standing there holding my babies… frozen… terrified.
I begin to wake. I’m in in one of those moments where you’re conscious enough to control the dream but not fully awake and I’m screaming to myself, GO FIND THE GUN! I suddenly realize, there’s a gun in the house so why am I standing still, doing nothing?
Immediately, I text my husband to tell him about the dream: “I understand now how I feel... frozen, defenseless, and terrified of this predator attacking our family. I have no idea how to protect us from this. But, the ‘guns’ are somewhere. I don’t know what the ‘guns’ are or where to find them – but, we will find a way to protect Cami and our family. WE ARE GOING TO FIGHT THIS.”
Kommentarer