Talia's Journey

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Talia's Journey

This page is about Talia's struggle with a rare genetic disorder -SPTAN1 mutation. Seizures have been an everyday part of her life since she was 1 day old.

Talia was born a healthy 8lb 1oz baby girl on October 10, 2012. Just 24 hours after birth Talia began having seizures...first her small body would just jerk a few times throughout the day. The nurses passed it off as an undeveloped nervous system...but our family didn't agree. She was discharged from the hospital with instructions to bring her to the pediatrician that day. After being seen by her doctor we were told to bring her directly to All Children's Hospital for further testing. This was just the beginning of what would be a very long 4 months before a diagnosis would be made. Talia was admitted to the neonatal unit for observation, blood tests, cat scans, eeg's etc. She was started on the beginning of what would be many many seizure medications which would never seem to fully control the seizures. These meds would make her very sleepy....she would sleep day and night. The hospitalizations would be off and on throughout the next few months....with the final big hospitalization being when she was about 4 months old. The seizures at this time could not be stopped. This is called Status epilepticus. The neurologist was even stumped. Talia ended up in the pediatric ICU on a breathing tube. They had to stop her brain from misfiring. She spent over a month in the hospital. When Talia returned home she was on massive amounts of seizure medications. She was no longer the same baby. It seemed like she no longer looked at you, she no longer smiled. Results of the genetic testing finally came in at about this time. It showed SPTAN1 mutation. A very rare condition. Only about 4-5 other cases, therefore very little is known about it, except that the others all experienced seizures and that it affected the connections in the brain. With the seizures still not controlled...and on multiple medications we started Talia on a Ketogenic diet. She remained on this diet for many months...seizures still not in control...
At about 1 year old we decided to stop the Ketogenic diet...She is now on a toddler formula.. Talia attends physical therapy, occupational therapy and speech therapy three days a week. She does not sit alone, crawl or stand. They are unsure if Talia can see - possibly due to the massive number of seizures causing damage to that area of her brain which controls sight. We can only wait to see where Talia's journey will bring us...and hope that by sharing her story that people will become more aware of this rare genetic disorder. Who knows, with more awareness possibly a cure will come one day...

11/10/2023

And today this sleeping beauty turned 11 💗… Happy Birthday Princess 👑

26/09/2021

National Daughter Day 👧🏻 Talia Marie 💖 She is half of my heart and is loved by more than she knows💞

14/02/2021

Watching “Sing”, one of her favorites💗💗

10/10/2020

20/10/2018

Happy 6th Birthday!

18/07/2018

24 hour EEG for this princess... She isn't happy but at least we get to come home w it this time and not have to sleep in the hospital ❤️😘👸👑

28/05/2018

A little late but look who graduated VPK 💓

28/05/2018

My perfect little princess 💓

21/05/2018

Did you ever wonder how mothers of disabled children were chosen?
Somehow I visualize God hovering over the earth selecting his instruments of propagation with great care and deliberation. As He observes, He instructs His angels to make notes in a giant ledger.
"This one gets a daughter. The Patron saint will be Cecelia" "This one gets twins. The Patron saint will be Matthew" "This one gets a son. The Patron saint.....give her Gerard. He's used to profanity"
Finally He passes a name to an angel and smiles. "Give her a disabled child".
The angel is curious. "Why this one God? She's so happy"
"Exactly," smiles God. "Could I give a disabled child to a mother who does not know laughter? That would be cruel!"
"But has she patience?" asks the angel.
"I don't want her to have too much patience or she will drown in a sea of sorrow and despair. Once the shock and resentment wears off, she'll handle it. I watched her today, she has that feeling of self and independence that is so necessary in a mother. You see, the child I'm going to give her has her own world. She has to make her live in her world and that's not going to be easy."
"But Lord, I don't think she even believes in you" God smiles, "No matter, I can fix that. This one is perfect - she has just enough selfishness"
The angel gasps - "Selfishness? is that a virtue?"
God nods. "If she can't separate herself from the child occasionally she won't survive. Yes here is a woman whom I will bless with a child less than perfect. She doesn't realize it yet, but she is to be envied. She will never take for granted a 'spoken word'. She will never consider any 'step' ordinary. When her child says "Momma" for the first time she will be present at a miracle and will know it. I will permit her to see clearly the things I see...ignorance, cruelty and prejudice...and allow her to rise
above them. She will never be alone. I will be at her side every minute of every day of her life because she is doing my work as surely as if she is here by my side" "And what about her Patron saint?" asks the angel, his pen poised in midair. God smiles ……………"A mirror will suffice.

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11/10/2023

26/09/2021

14/02/2021

10/10/2020

20/10/2018

18/07/2018

28/05/2018

28/05/2018

21/05/2018

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