Rian
When Rian was 6 months old we believed she had a seizure. Doctors at the time said that it was reflux. We were in disbelief and that was not a good enough answer. Her Pediatrician had ordered an EEG and the results came back normal. Then 2 weeks later she went cross eyed for about 3 minutes. That raised a huge red flag, but what could this be. We then went to see a neurologist who ordered a MRI which then also came back normal. Rian would go through these periods of time to where she could hardly sit up. Rian was a happy baby but at the same time not reaching milestones like her peers. We were concerned parents and like any parents, we wanted answers.
Rian didn’t start pulling herself up till she was about 14 months old and did not fully walk until after her 2nd Birthday. She had tubes put in around this same time and we were hoping this would help but no improvements were made. When she did walk, it was with a wide unsteady gait, as if she was drunk. By this time Rian’s left eye started going lazy so we took her to an Ophthalmologist who prescribed glasses. We were hoping this would possibly help with her balance. During this period of time we started Earlysteps to try and help Rian with her milestones and reach goals. We then saw a developmental delay specialist who could not put his finger on what was going on with our daughter and a Geneticist who ran every possible test. All tests that the doctors were running were all coming back normal and this did not sit well with us.
We decided to take her to a Neuroethology who ran several vestibular tests on Rian and ordered a CT scan of her inner ear. When these test came back they were normal as well. We still didn’t understand what was going on with our baby. There were days to where she would be okay and others it would make you want to cry, scratch your head, and fight for whatever was going on.
We then saw a 4th neurologist for another opinion hoping that there would be something the other doctors may have missed. At the time he could not put his finger on what was going on. Rian started having involuntary movements in her body along with her unsteady gait and she would go through a period of time during the day to where she could hardly stand up and function. Finally, we were at our wits end and decided the only thing we could do at this point was to get the whole exome sequencing test done.
We are beyond happy to say we finally have a a diagnosis on Rian. It had been a Journey. For everyone who donated we cannot thank you enough. Without this test we may have never been able to get a diagnosis for our sweet girl. She has been a trooper through all her testing and doctor appointments. We were able to send the whole exome sequencing genetic test in November 2015. At the time we believed it would take three to five months to get the results back. On Friday, February 5, 2016 we received a call that has now changed our life. Rian has finally been diagnosed with GLUT1. This is the answer we have been wanting since she was 6 months old.
Rian didn’t start pulling herself up till she was about 14 months old and did not fully walk until after her 2nd Birthday. She had tubes put in around this same time and we were hoping this would help but no improvements were made. When she did walk, it was with a wide unsteady gait, as if she was drunk. By this time Rian’s left eye started going lazy so we took her to an Ophthalmologist who prescribed glasses. We were hoping this would possibly help with her balance. During this period of time we started Earlysteps to try and help Rian with her milestones and reach goals. We then saw a developmental delay specialist who could not put his finger on what was going on with our daughter and a Geneticist who ran every possible test. All tests that the doctors were running were all coming back normal and this did not sit well with us.
We decided to take her to a Neuroethology who ran several vestibular tests on Rian and ordered a CT scan of her inner ear. When these test came back they were normal as well. We still didn’t understand what was going on with our baby. There were days to where she would be okay and others it would make you want to cry, scratch your head, and fight for whatever was going on.
We then saw a 4th neurologist for another opinion hoping that there would be something the other doctors may have missed. At the time he could not put his finger on what was going on. Rian started having involuntary movements in her body along with her unsteady gait and she would go through a period of time during the day to where she could hardly stand up and function. Finally, we were at our wits end and decided the only thing we could do at this point was to get the whole exome sequencing test done.
We are beyond happy to say we finally have a a diagnosis on Rian. It had been a Journey. For everyone who donated we cannot thank you enough. Without this test we may have never been able to get a diagnosis for our sweet girl. She has been a trooper through all her testing and doctor appointments. We were able to send the whole exome sequencing genetic test in November 2015. At the time we believed it would take three to five months to get the results back. On Friday, February 5, 2016 we received a call that has now changed our life. Rian has finally been diagnosed with GLUT1. This is the answer we have been wanting since she was 6 months old.
Since her Diagnosis
Rian is on a modified Atkins diet, which limits her carbohydrate intake to 20grams per day. Her neurologist does not recommend using the ketogenic diet unless her symptoms worsen. So far, the modified Atkins diet has helped her improve in many aspects. Her speech has drastically improved and she is now able to walk without falling over multiple times. Within two weeks after starting the diet, she began to pedal her tricycle and just recently she began jumping. She still receives physical therapy, occupational therapy, and speech therapy. She is the most fun- loving and happy little girl; we are so blessed to have her and even more blessed for everyone that donated and prayed for her.
