When she was five weeks old she started to do this odd curling up thing with her body and she would hold her breath and get red, almost like she was having a BM. I thought it was kinda cute at first, I told my mom she looked like Chipmunk, I called her my little Chipmunk. My mother saw it and said she thought it might be a seizure, I said no right away, I didn't want to believe it. But my sister who is a nurse also saw it and said she thought it was a seizure too. It was so scary to think our sweet little baby was having seizures.
I scheduled an appointment with her PCP, Dr. Enghman who thought at first when I explained it to him that it was a re-flux spasm, but I was so thankful that she had one when we were in his office and he then confirmed they were seizures. I hated hearing that. Immediately he scheduled an EEG and a brain ultrasound @ Mercy Hospital in Rogers, AR. After the EEG it confirmed she was having seizures. We immediately were transferred to Children's Hospital in Little Rock Arkansas on December 11th. That night when we got there they hooked her up to an EEG and had her in a video room, they wanted to monitor her overnight. In the middle of the night a Dr. came in and said they were going to start her on medication for her seizures. We had some really great Dr.s and nurses while we were there. Dr.Sharp(Chief Neurologist), and Dr.Willis(fellow-she was amazing).
After 9 Days in Children s Hospital, and many Tests: Video EEG, MRI, Spinal Tap, Urine Test, numerous blood Tests, and lots of sticking our sweet baby girl, everything kept coming up negative. We were so thankful, but wanted to find out what was causing her seizures.
We also noticed she was having odd eye movements which we were told was called eye roving and indicated low vision. After meeting with Ophthalmology department, and having several doctors look at her eyes they discovered she had cataracts in both eyes. We were scheduled to come back to meet with a specialist after the holidays and schedule cataract surgery for each eye.
We were in the Neurology Unit and she was being video monitored and connected to EEG machine to try to study the seizures she was having. After trying two seizure medications, Keppra and Trileptal(Oxcarbazepine) she continued to have seizures, Dr.Sharp then added Phenobarbital, which he was hesitant about because it has a lot of side affects and can be addicting. With adding the Phenobarbital her seizures stopped for the first time! It was so amazing!
After 9 Days at Arkansas Children's we were released to go home two days before Christmas. We were so thankful she didn't have to spend her first Christmas in the hospital. She had been seizure free for 2 days and we felt comfortable to travel back to Woodward, OK for Christmas. As we got to Oklahoma City the day we were realeased, we went to a family dinner on the way to Woodward, and Naomi started having cluster seizures. We called the Neurologist who then raised her Phenobarbital. It seemed to help some but she was still having seizures.
Christmas night she had serious respiratory challenges, she was choking on phlem or something in the back of her throat, she was hardly breathing by the time we got to ER in Woodward. After she was stabilized in ER she was diagnosed with RSV, which turned out to be a wrong diagnosis, because she had no symptoms. We traveled back to Rogers, AR the next day, and while we were home she continued to have seizures, and had another night of respiratory problems where we had the car started and were about to take her to the ER when she started to breath normally again.
The next week we had her eye surgery scheduled. We drove to Little Rock the night before her surgery because we had to be there at 5am, after about an hour at the hotel, Naomi started to have respiratory challenges again. We didn't wait, we rushed her to Arkansas Children's ER. We were admitted, they did another RSV test because of her positive result that we got in Woodward(which was wrong), and they also did a chest X-ray. I pray no one has to have a chest X-ray on there baby, it was one of the hardest things to watch. So, thankful we weren't alone, the Lord was holding us. After a few days the doctors determined she was having re-flux to the Phenobarbital liquid so they switched her to a pill form that we have to crush and mix with water or formula, and then they started her zantac to help with the re-flux.
It was during the next few days we would find out that a Genetic test they ran several weeks before called a micro-ray would unveil she had a deletion of a x chromosome...xp. 23.13 to be exact. After meeting with Genetics doctors and not getting a whole lot of information, the region deleted could include up to 8 genes and 3 major developmental genes, the one that she has the most symptoms of is CDKL5. We have been seeing Dr. Tonya Balmakund in Lowell at the satellite office for Children's in Little Rock, she has not been able to get her seizures under control, but has been working very hard trying to find the right medication cocktail(some call it).
She had 2 cataract surgeries with Dr. DiMecelli @ Children s, which appear to be successful. Her eye tracking is greatly improved and she now wears contacts that we have to take out once a week and clean. We have a follow up appointment on March 2nd to make sure everything with her eyes are going good. She is still struggling with seizures ranging 1 to 10 a day. We are currently working with our Neurologist to find the right medication combination to stop her seizures. We are considering taking her to Mayo Clinic for 2nd opinion.
Through all of this the only thing that kept us going was much prayer from so many, and trusting in the Lord completely. He loves and cares for us so much. We are so thankful for his working in our lives. We know that He has amazing plans for Naomi Grace. The Lord has a perfect plan for Naomi. She has already taught us so much, and has touched so many with her story. What a blessing from the Lord she is to us! We continue to ask for prayers for Naomi's journey. We love you all!
