It was clear from the start that Cami would do things in her own time.  One week past her due date, I was induced.  Cami was born after only 5 hours of active labor at 9lb 5oz 21".

At 8 (rough!) weeks, we learned Cami had an upper lip tie and posterior tongue tie.  After her revisions, she quickly became the sweet happy baby we know today! Hands down one of the best things we ever did for her.  This is where I learned that doctors aren't always right and to TRUST YOUR INSTINCTS.

At her 4 month appointment, I expressed concerns of possible developmental delays.  Her pediatrician wasn't concerned, but she was worried that her eyes still weren't aligning well.  We saw an ophthalmologist who diagnosed her with exotropia - an eye misalignment in which one or both eyes turn outward.  We were told that at this age, it would unlikely correct itself and to prepare for surgery after her first birthday.

Our Path to Diagnosis Part I: Early Signs

Cami and our family moved across the country to Colorado!  Before her lip and tongue tie revision, Cami SCREAMED in a car seat.  Thank goodness for those revisions because she was the perfect road trip buddy!

At her 6 month appointment with her new pediatrician, I (again) expressed concerns that she was missing milestones - in particular, she couldn't hold onto toys well, was showing no sign of sitting or rolling, and wasn't babbling much.  This time, we were referred to an Early Intervention assessment.  On August 31, the result of that assessment confirmed gross motor, fine motor, and communication delays.

Our Path to Diagnosis Part 2: Therapists, and Specialists, and Tests, OH MY!

Cami begins weekly physical therapy and begins seeing a neurologist.  The neurologist diagnoses her with hypotonia, low muscle tone, and rules out concern for cerebral palsy, muscular dystrophy, or related disorders.  He reaffirms that she shows no physical signs of a syndrome and thinks she'll just develop a little slower than most but she'll be just fine.  We are so relieved!

A Year of Physical Therapy in GIFs

Unfortunately, Cami's physical therapy wasn't progressing as we had hoped.  She was holding her head up better, but progress was slow so we added an Occupational Therapist.  She also HATED belly time so much that we added a Rehab Specialist and did x-rays just to make sure there wasn't something causing her pain.  Luckily, all looked good and we were able to continue focusing on strengthening exercises.

The day after Christmas, Cami spiked her first fever.  I was worried she was having seizures and immediately took her to an urgent care where the doctor agreed with me.  He ordered an ambulance and we immediately went to the hospital.  By time we arrived, her fever had come down and she was no longer showing signs of seizures so they sent us home.

Epilepsy: 3 Lessons Learned

Cami's MRI shows "slightly thin white matter."  

Her first EEG shows no abnormalities.

We learned just how much this girl loves cake at her party!

After months of physical and occupational therapy, Cami (13 months) begins sitting independently!

Shortly after she started sitting, I noticed more activity that looked to me like seizures.  A second EEG didn't catch any seizures but did show "slowing" in the right side of her brain.

After an abnormal MRI and an abnormal EEG, Cami's neurologist ordered a microarray (a genetic test).  He fully expected it to come back normal.  On a Monday afternoon, my world crumbled around me when I learned that Cami was missing a section of her 15th chromosome.  For two weeks, every doctor expected to find it was a very mild form of Prader-Willi (a syndrome caused by a deletion on the paternal side of the 15th chromosome).  They said "she just doesn't look like an Angelman kid!"  I was prepared for Prader-Willi, I had accepted it.  Two weeks later, the results from her methylation (another genetic test) came back and I was crushed yet again to learn it was, in fact, the maternal side of that chromosome that was missing which meant she had Angelman Syndrome.

The Moment that Changed Everything

For months, I had been suspecting seizures.  Now that we had the diagnosis, I had science and research to help support my case.  Through the month of May, her seizure activity seemed to pick up dramatically.  Her new neurologist ordered a 24-hr EEG where we learned she was, in deed, having up to 14 myoclonic seizures every 30 minutes.  Shortly after, we began medications to try to control her seizures.

Now that we knew Cami was indeed having seizures, we began trying seizure-control medications.  She started with Keppra, a common and favorite among many seizure patients.  Unfortunately, Cami got very sick when we introduced it to her and every time we had to increase dosage.  Her hands and feet would turn purple and mottled and she'd vomit often.  We then transitioned to Onfi.  The side effects of this were MUCH better, it only seemed to control her seizures until the early afternoon.  We tried different dosing plans and finally added in a third medication, Zonisamide, to try for more control. Unfortunately, her seizures have continued to be difficult to control.

Cami's SMO's are designed for kids with hypotonia.  They compress the soft tissues of the foot, providing more stability while allowing for natural development.  They don't bother her at all, although finding cute shoes to go with these can be hard.

In an effort to get Cami upright, bearing weight in her legs, and eye level with her peers, her physical therapist brought her a stander to try out for a few months.  Cami loved when her sister or friends would push her around in this!  She got very good at clearly "communicating" whose turn it was to push her by scanning the room and making eye contact with whoever she wanted to push her next!

Momma and Cami take a weekend to visit family.  I was nervous about how flying would impact her seizures.  She did have many seizures, mostly because she didn't sleep well on the plane, but overall she was a wonderful traveler.  What was most interesting is that with so much one-on-one time, we saw a great improvement in intentional mimicking behavior!

Cami gets an adapted, motorized car to give her access to mobility, opportunities to socialize, developmental growth, and to just be a KID! Go, Baby, Go!

Mom and Dad are thrilled to attend our first Foundation for Angelman Syndrome Therapeutics Annual Summit and Gala where we meet hundreds of incredible Angelman Syndrome families, hear from the greatest researchers and experts in the field, and help raise $2.5M for a CURE! Give to Find a Cure

Days before Christmas, Cami gets sick and we notice her breathing seems more labored than usual. She was diagnosed with RSV and sent home with oxygen tanks.  She stayed on oxygen for 2-weeks and luckily never had to be hospitalized.

How a Special Needs Diagnosis has Changed Christmas

Cami is overwhelmed by groups, so this year we opted for a small party at home with the family.  She loved it!

Unfortunately, Cami's seizures still aren't under control.  With teething, illness, and a growth spurt, Cami was having more than 100 seizures a day some days. In January, we began shifting her diet to a low carb, low sugar, and high fat diet that has great improvements on many with seizures.  In February, we began changing her medications as well.  Fingers crossed we find seizure control soon!

International Angelman Day is February 15! A day to celebrate our beautiful angels and bring awareness to this rare syndrome! This was followed by Cami's first Rare Disease Day on February 29th.  Why Rare Disease Day Matters

What an incredible blessing came our way! On April 20, 2020, we had the privledge of being one of the very first patients seen at the brand new Angelman Syndrome Clinic at Children's Hospital Colorado! Clinics are an amazing resource for families because they consolidate so many appointments into ONE place.  Over a few hours, we met with genetics, neuro, rehab, PT, OT, and speech!  We're very grateful to have such BRILLIANT minds, PASSIONATE professionals, and CARING hearts joining Team Cami!  Click HERE for more info about AS Clincis.

It's been one year since Cami was diagnosed with Angelman Syndrome.  While the stress and worry of this special needs life will never go away. I'm happy to report that the weight we carried for months has lifted.  We all feel much more settled in our roles, confident in how to best care for Cami, hopeful for her future, and grateful that we can use this experience to connect with others.

5 Things To Do After Receiving Your Child's Rare Diagnosis

Our Story of Grief

After the weight of Cami's diagnosis lifted, we knew we wanted another baby for many reasons - one of which is that we wanted Cami to be a big sis! She has arrived!
SUPRISE: We had a baby!

Cami turned 3 and we have SO MUCH to celebrate including SEIZURE CONTROL for the first time since she was diagnosed!

Celebrating a Year of Growth

It isn't always easy to accept your child needs a wheelchair, but we are excited to give Cami a new way to access the world as we continue to work towards walking (and she sure is cute in it!).

It is still hard to believe that one small change in Cami's seizure medication has led to such incredible seizure control! She has been seizure free since December 2020 and we are seeing so many incredible gains including improved confidence, improved fine motor skills, and improved gross motor skills.  She has learned to scoot and is moving all over the house, she started clapping, is sitting with a more narrow base of support, and showing more readiness for a communication device!

Cami starts preschool!  Cami will now be getting physical therapy, occupational therapy, and speech therapy services in school to supplement her weekly therapies while learning, growing, and making friends at her new school!

Let's get walking!

Let's get talking! We opted for an iPad Via Pro with TouchChat and a key guard.

Cami's first ever therapy intensive program has happened!  For three weeks, Cami went to the NAPA Center in Denver, CO for 4 hours of therapy a day.  This included 2 hours of PT/OT in a neurosuit, 1 hour of Dynamic Movement Intervention (DMI), and 1 hour of speech therapy focusing on her new communication device.  She gained SO MUCH strength in this program.  Our two biggest celebrations included that Cami learned to walk in her gait trainer AND she began using her communication device more intentionally.  She ended her three week session by telling her speech therapist "I'm All Done. I love you. Bye bye!"  What an amazing success this was! 

I was so honored to be this year's Walk Coordinator for the 2022 ASF Walk in Colorado this year!  The day of the walk, in typical Colorado fashion, we got 12" of snow! But we pulled the event off indoors the next day and it was an amazing success with over 15 individuals with Angelman syndrome and over 185 people in attendance!  

Cami enjoyed an amazing summer!  She spent time at the pool -- one of her favorite places, visited Nashville where she got to use her first sparkler, go boating, and dance at honkeytonks, received an adaptive bike, visited the zoo, and so much more! 

We were so grateful to attend ASF's Family Conference in Austin, TX where we met many other AS families, learned a ton, met mermaids and BLIPPI, and enjoyed an incredible waterpark!  Cami was a bit "starstruck" by Blippi and was an excellent traveler.  What an experience!

Cami attended her 2nd NAPA intensive.  On the first day of the second week, she seemed unusually tired.  I had a feeling something was wrong so took her to urgent care where she had her first breakthrough seizures in over 18 months.  We realized she was getting sick, took a few days off therapy for rest, and she came back strong.  Despite struggling through her second week the program, she still gained so much strength and coordination that we saw the effects of weeks after the intensive ended.

Cami is taking 3-6 steps independently and has started walking across a pool with no support!!!!!!!