One year ago, I couldn’t have told you what a myoclonic seizure looked like, I had never heard of the word hypotonia, and I certainly had no idea how much our life was changing.
Cami was 7 months old and we were at an appointment to determine if she qualified for Early Intervention. We were there because I was worried she was missing milestones.
The Result: Gross Motor Delays. Fine Motor Delays. Communication Delays.
I spent Labor Day weekend in what I now refer to as a “Google Spiral of Disaster.” Tuesday morning at 8 am – the moment offices opened – I demanded a consult with a neurologist with fears of Cerebral Palsy. This launched months of investigation, theories, therapies, specialists, and tests – So. Many. Appointments. One day, I’ll share more on all of this, but for the sake of time, I can say it has been an emotional (and exhausting) roller coaster of fear, stress, frustration, sadness, and utter devastation, and yet - comfort, gratefulness, and hope.
Long Story Short: Cami's Diagnoses
Cami (now 19 months) has been diagnosed with exotropia (eye alignment issue), hypotonia (low muscle tone), GERD (acid reflux), and genetic epilepsy.
A few months ago, we received the diagnosis that connected the dots, but was entirely unexpected. It was the diagnosis that shattered the dreams we originally had for our sweet, beautiful baby girl and the diagnosis that has completely changed our lives.
Cami is missing part of her 15th chromosome and has Angelman Syndrome.
My guess is you may have never heard of Angelman Syndrome (AS). We hadn’t either. AS is a rare neuro-genetic disorder that occurs in about 1 in every 15,000 live births. It can be misdiagnosed as cerebral palsy or autism. AS is characterized by developmental delays, motor and balance issues, seizures for most, and the kicker (for me) – nonverbal. Cami will require life-long care.
The upside - AS is also characterized by a generally happy demeanor. From what I can tell, these kids love hard, smile a lot, and laugh often. Their smile is infectious, and I’ve heard AS children described as bright lights that people are drawn to. This certainly seems to be true with Cami! There is also incredible progress happening in AS research right now, so I am hopeful that treatments will be discovered in her lifetime and maybe – just maybe – we’ll find out she has a lot to say.
We welcome you to follow along in our journey by following us on Facebook @theCAMIproject and Instagram @theCAMIproject_! Questions? Ask away and I'll try to address them in a later post!
Great questions @rbbugbjte! I’ll be addressing all these in more detail in future posts but the short version (also see our Meet Our Angel page linked off the home page!) 1) Her development just seemed much slower than it should be - it took months before she could really hold toys in her hands well, for example. And at 6 months she still wasn’t trying to roll or sit. 2) Still trying to figure that out but we know she has more when she’s tired, sick, or hungry. As far as we know, they are myoclonic but I wouldn’t be surprised to find out other types have also evolved. 3) She is on seizure control meds and in weekly physical, occupational, and spe…
1. What was your first clue that something was wrong?
2. What sparks a seizure? Grand Mal or petite mal?
3. Can any of the individual problems be helped by anything? Surgery (eyes), meds to control seizures. I would let her watch PBS or the cds that are colorful. Take it as easy as you can, Mom, and be thankful for military med care! Love and prayers✝️🙏