Joanna was born October 16, 2022.
February 2023, Joanna was diagnosed with Alternating Hemeplegia of Childhood (AHC). Gene panels revealed a mutation in the ATP1A3 gene. 
AHC is a 1 in 1 million genetic disorder. This disorder consists of "episodes" that mirror, many different diseases and will cause developmental delays, learning disabilities, sleep disorders, movement disorders, etc. This is a horrific neurological disorder that will require lifelong care. 
This ATP1A3 gene is new in Joanna. 
Nicolas and I have been tested for this gene and we do not carry it. (There could always be a chance that we carry this gene in our reproductive organs, but it is impossible to test for this successfully at the time being)

Most doctors have never heard of this disease, and it can be very intimidating to the medical community. We received her diagnosis after we fought for referrals and genetic testing from the time she was 3 weeks until she was 4 months. We are extremely fortunate to have received such an early diagnosis. (Many families have gone years without a diagnosis/misdiagnosis)

Joanna is 17 months old now and she is the light of our lives. She is a beautiful, sassy, incredibly aware, smart little girl! She is fierce and full of strength! We work hard for milestones, and there is not a day where we will not fight for her. Our schedule is jampacked five days a week with physical therapy, occupational therapy, speech therapy, and feeding therapy/ doctors appointments. 

When Joanna goes into an “episode”, our lives pause. 
Joanna will usually cry in pain, and refuse to be put down. Joanna will experience, abnormal eye movements, painful dystonia (stiff muscles), and alternating hemeplegia. (One side of her body is temporarily paralyzed) Her right side of her body is weaker most of the time. She has difficulty swallowing, so it makes it hard for her to eat or drink comfortably/safely. These spells usually last anywhere from 7 to 10 days until she’s back to baseline. And time moves slow. Very slow.
Currently, there is no cure or one medication that can successfully treat all of these symptoms at once. (There are also side effects from medication) 
Most of the time sleep will relieve her from this pain, but when she wakes up, she goes right back into it. (Rescue medication’s and comfort are usually the only things that help patients like this.) When Joanna comes back to her baseline, we continue to work hard towards new milestones and try to enjoy every “good” day that we have with her. 

We have a wonderful care team here in Atlanta and followed by Duke University Neurology/AHC research clinic in North Carolina. 
We will visit Duke once a year. 

As I share this, I re-live the very beginning of her early diagnosis. It brings tears to my eyes and saddens us deeply as parents, family and a community. The last thing anyone wants to see is their child suffer from an uncurable illness. 
There is still ongoing research to find treatment/cure for this horrible disease and I pray that we will see one in our lifetime. 
In order for this to be successful and to continue, funding is key. 
The future is blurry and we don’t know what to expect for our baby girl. But we have hope and we are asking for your help to find a cure for our baby and all of the other AHC Warriors in our community. 

Please, donate to END AHC for Joanna and our community. 

We can't do this alone.

-Raquel, Nicolas, & Joanna

Through research, education, and family support, we have ONE MISSION: END AHC.

Through these three pillars of our mission, the AHC Foundation works to provide our community support and hope as we all move through this journey. Funding RESEARCH from small studies to gene discovery, to collaboration on landmark gene therapy that holds much potential; providing EDUCATIONAL resources to families through support groups, introductions to physicians, and our website; SUPPORTING FAMILIES through our support group, biennial family meetings, and availability of volunteers for crisis; are all ways the AHC Foundation works to END AHC. 

Join us in fundraising to continue to provide resources to families, fund research with high potential, and raise awareness of this rare disease.