Josiah’s Story
Josiah is a beautiful 3-year-old loving and happy boy from Illinois. He is very personable and just makes everyone around him happier. He is a people person. His understanding blows us away. He seems to be very aware of everything that is going on around him. He is also a loving big brother and is very good at helping with his little sister.
Variant: p.V1393M c.4177 G>A
History
At birth, the doctors told us Josiah had low tone and tremors. They thought that there was something else going on and wanted to get additional tests. However, I didn't want to admit that there was something wrong until he was about three months old and still not meeting milestones. Josiah has actually always met his milestones, just late. His doctors are optimistic that he will continue to meet milestones on his own time. Josiah has problems controlling his muscles, has tremors, low tone in his chest and stiff hips. As a result, he has trouble walking and talking and has poor fine motor skills. But, he continues to make progress. Josiah can use a medical walker and is starting to use sign language.
Josiah was born at home. It was a difficult labor. He had shoulder dystocia and we immediately knew something was wrong. After birth, he was shaking and did not turn pink quickly enough. We took him to the emergency room, where he was admitted to the NICU for three days. They did an MRI, EEG, EKG, blood tests and other evaluations to figure out what was going on with him before sending him home. For the first nine months of his life, his only symptoms were low tone, stiff hips, and tremors. (He also had crossed eyes, but this might be unrelated because it runs in the family.)
The day Josiah had his first seizure, his symptoms went from concerning to terrifying. When Josiah has seizures, he turns his head, goes stiff in his neck, limp in the limbs and stops breathing (not completely, but extremely poorly). Because his seizures don't present typically, it took his doctor three episodes to even figure out that he was having seizures. For the next 16 months, he had an average of one seizure a month. His seizures are always severe. They are hard to stop and cause difficulty breathing; he often has to be intubated. After his first episode, our neurologist ordered genetic testing, and when it came back with nothing, he ordered Whole Exome sequencing. It took until Josiah was 18 months old to discover that he had a CACNA1A genetic mutation. Since September 2019, he has only had three seizures (it’s been almost a year), so we are making progress. I think we may have found seizure control, at least for the time being. He also has had two surgeries to fix his crossed eyes.
Josiah struggles with communication and muscle control. His tremors make fine motor skills difficult. He hasn't started walking on his own yet but can easily keep up with his two big brothers in his walker. His expressive language is also improving and he is learning sign language. Josiah is a little daredevil and likes to take risks...we are proud of his accomplishments but terrified of him getting hurt, as bumping his head is a seizure trigger.
Education & Therapies
Josiah has received occupational, physical, speech, and developmental therapies through Early Intervention. He just aged out and is now getting his therapies in the hospital. We homeschool our children and are taking care of his educational needs at home at this time. He's only three, so I'm sure we will be utilizing tutors and taking classes to help us traverse the difficulties that will arise.
Newly Diagnosed
I would advise you to accept your lot. This child was given to you to take care of, raise, love, cherish, and advocate for. You will experience almost every emotion you can think of. Surround yourself with loving family and friends for support. God has helped me the most through this. Utilize all of your resources. Listen to your doctors, but remember you are your child's biggest advocate. Don't be afraid to speak up for your child and put your foot down when needed with the doctors, teachers, and therapists. While difficult, this journey will be rewarding, amazing, humbling, and totally worth it when you see how much joy your little one has brought to your life.
