Louise’s

Story 

Louise is a sassy, sweet, and FUNNY toddler, who is currently 18 months old. Her communication skills and cognition are areas of strength. She is not afraid to let you know what she wants and will show you how to get it! According to Louise’s mom, Brittany, Louise is really great at remembering words and phrases, so she is able to express what she needs, when something hurts, etc. Their family is in awe of Louise’s ability to understand. Louise said her first word at 11 months, and her language has skyrocketed from there. She loves loves loves to read books and sing. She also likes to play with dogs, be outside, and look at the cars and people that pass by their house. She is so silly and wonderful, and everyone is so proud of her:)))))

Variant: c.2314A>T (p.Lys772*)
Loss of Function, De Novo

History 

Louise started to exhibit Paroxysmal Tonic Upgaze (PTU) at around seven months old. At about eight months old, she started developing what we believe was Cyclical Vomiting Syndrome (CVS). Her grandmother ("Gigi") is a pediatric physical therapist and observed delays in her gross motor skills, specifically sitting and crawling. Louise also showed delays in her fine motor development as well.

After many visits to specialists and conversations with her doctors, we were at a loss. When her neurologist diagnosed her with PTU and CVS and told us that both were rare, we knew something wasn't right. My husband googled both of those symptoms together, and we found the CACNA1A Foundation website! We brought our findings to her neurologist, and he agreed to run a DNA test. I think all of us were shocked when we got the results!

Therapies 

As mentioned, Louise was late to crawl and struggled with sitting. She would often fall over, almost like she was losing her balance. She was a master crawler by twelve months, but she still wasn't really trying to walk. At that time, we received her diagnosis of a CACNA1A variant, and her Gigi (her physical therapist and grandmother) helped us enroll in an early childhood intervention program. 

So far, with the help of our team of therapists and doctors, sweet Louise has met all of her milestones!

We are in PT once a week, OT three times a month, and baby yoga for kiddos with special needs once a week. Louise will be starting swim lessons soon, and we have also begun looking into dance classes for children with special needs. Daily, we play on a therapy ball, are out in the yard walking, playing with play-dough and drawing, reading, and singing. The connection of children's songs and song chants to movement and reading is huge. Many of her exercises also include hand-eye coordination activities and activities working her proprioception.

From a gross motor standpoint, Louise started walking at around 16 months, although her stance is still a bit wobbly. In physical therapy, Louise works on her balance and gross motor skills as she is a bit uneasy in her footing and falls a lot. In OT, Louise works on wrist manipulation although she can draw and color very well. She also works on manipulating objects in her hand to fit them into a hole (such as a shape shorter), pushing things together, and pulling them apart. She has made huge strides in these areas! She is regularly assessed by a speech pathologist, and currently, her language and cognition are considered age-appropriate. 

Diagnoses

We are unaware of any other diagnoses at this time. Lou's medical history suggests that all of her symptoms correlate with a CACNA1A genetic mutation. 

In addition to her therapists, Louise sees a neurologist specializing in genetics, a neuro-ophthalmologist, and a GI specialist.

Louise experiences PTU, ataxia (intermittently), and CVS. Over time, we have noticed that the PTU is more pronounced when tired or sick and will go away after a nap. She gets weak when she has an ataxia episode, and her coordination seems worse. The CVS is also much better since beginning medication. She used to have vomiting episodes about once a week. Now, she has gone nearly two months (and counting) without an attack. She takes Magnesium, B2, and Cyproheptadine. At this time, she has not experienced seizures, and we are hopeful that this will continue.

For those newly diagnosed

This can feel overwhelming. It's hard to know what to ask, say, and think. It's also hard to remember to take care of yourself. It's not a sprint; it's a marathon. Lean on friends and family around you for help. We could not have walked this path alone and still frequently rely on grandparents and friends to help with Lou. In our case, we are lucky that Louise's Gigi is a Pediatric Physical Therapist with connections and a bank of knowledge. We rely on grandparents and friends to come to watch Lou so we can focus on a doctor's visit or simply rest. Truly, our group of people has been our saving grace.

Finally, don't be afraid to ask your doctors questions. We have been so blessed with a team of doctors and specialists who came to the table with a community attitude. If something doesn't feel right, ask about it.