Macie
Owingsville, Kentucky
Macie Ann Steele was born in 1997 to John and Glenna Steele. She was born by C-section after a complicated delivery, but she had normal Apgar scores and all seemed fine for the first few months. At around her first birthday (about the same time she weaned from breastfeeding), we began to notice that Macie had episodes where her eyes would jerk upwards, and sometimes we would also feel or see slight jerking in her arms and legs at the same time. This always happened more frequently when she was tired or hungry, and they only lasted a couple of seconds. We mentioned these to her pediatrician, but he didn’t seem overly concerned, and the thought never occurred to us that these could be seizures. A few months later, Macie had a longer episode, more like a typical absence seizure. We took her back to the doctor, she had an EEg, and she was diagnosed with focal epilepsy at 22 months of age.
This seizure pattern continued, and Macie’s seizure count was in the hundreds daily. When she was 4, we decided that we wanted her to try the ketogenic diet, since the many medications we had tried were ineffective and the side effects unacceptable. We had to search out a neurologist just over 4 hours from our home to offer the diet to Macie, and he changed her diagnosis to idiopathic generalized epilepsy. She became seizure free as soon as she got into ketosis with an at-home induction, and medications were weaned within a couple of months. She took to the diet like a champ, and it was like a fog had been lifted and there was a new child underneath. We enjoyed this seizure-free period for almost 2 years, and then as we were beginning to talk about weaning the diet, the seizures returned. We tinkered with the diet for some time, and then ended up switching medical treatment centers again in hopes of being able to better fine tune the diet and regain control. Unfortunately, seizure freedom continued to elude us, and after another two years of adjustments and experiments, we weaned the diet completely when Macie was 8 years old.
The new neurology center diagnosed Macie with Doose Syndrome, or Myoclonic Astatic Epilepsy. Once we weaned the diet, we began the drug merry-go-round again, and Macie started having new seizure types. We found Diamox to be effective for the tonic and tonic-clonics, but nothing we tried seemed to help with the short absence/myoclonic seizures she continued to have. We were eventually told that the Vagus Nerve Stimulator was the only option left to try, so after getting second and third opinions we agreed to have the device implanted. It was turned off within a few weeks of her surgery because it seemed to aggravate her seizures. While undergoing video-EEg monitoring prior to the surgery, one of the attending neurologists diagnosed Macie with Lennox-Gastaut Syndrome. Macie’s younger sister, Maggie, has a history of complex febrile seizures, and we were also told that both of them could have GEFS+ (a familial epilepsy linked to the SCN1A gene - Maggie eventually had more genetic testing when her seizures returned at age 15 and was diagnosed with GRIN2A, a different rare genetic epilepsy).
This seizure pattern continued, and Macie’s seizure count was in the hundreds daily. When she was 4, we decided that we wanted her to try the ketogenic diet, since the many medications we had tried were ineffective and the side effects unacceptable. We had to search out a neurologist just over 4 hours from our home to offer the diet to Macie, and he changed her diagnosis to idiopathic generalized epilepsy. She became seizure free as soon as she got into ketosis with an at-home induction, and medications were weaned within a couple of months. She took to the diet like a champ, and it was like a fog had been lifted and there was a new child underneath. We enjoyed this seizure-free period for almost 2 years, and then as we were beginning to talk about weaning the diet, the seizures returned. We tinkered with the diet for some time, and then ended up switching medical treatment centers again in hopes of being able to better fine tune the diet and regain control. Unfortunately, seizure freedom continued to elude us, and after another two years of adjustments and experiments, we weaned the diet completely when Macie was 8 years old.
The new neurology center diagnosed Macie with Doose Syndrome, or Myoclonic Astatic Epilepsy. Once we weaned the diet, we began the drug merry-go-round again, and Macie started having new seizure types. We found Diamox to be effective for the tonic and tonic-clonics, but nothing we tried seemed to help with the short absence/myoclonic seizures she continued to have. We were eventually told that the Vagus Nerve Stimulator was the only option left to try, so after getting second and third opinions we agreed to have the device implanted. It was turned off within a few weeks of her surgery because it seemed to aggravate her seizures. While undergoing video-EEg monitoring prior to the surgery, one of the attending neurologists diagnosed Macie with Lennox-Gastaut Syndrome. Macie’s younger sister, Maggie, has a history of complex febrile seizures, and we were also told that both of them could have GEFS+ (a familial epilepsy linked to the SCN1A gene - Maggie eventually had more genetic testing when her seizures returned at age 15 and was diagnosed with GRIN2A, a different rare genetic epilepsy).
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We were never fully convinced that Macie had the proper diagnosis with Doose or Lennox-Gastaut, so we continued to search. I happened upon some information about Glut1 Deficiency, and the more I read about it, the more I thought she could have it. Her doctors were not willing to consider Glut1 Deficiency until her epilepsy center did some reshuffling and she was placed with a brand new neurologist. The testing process began with a spinal tap, then a fasting video-EEg, next a PET scan, and then DNA analysis for our whole family. All of her testing results were in a gray area for the diagnostic information for Glut1 Deficiency available at the time, so everyone was reluctant to make a diagnosis. Finally, in 2008 we visited Dr. Juan Pascual in Dallas and he immediately confirmed Glut1 Deficiency when she was 10 ½ years old. We started modified Atkins right away with a great deal of improvement for Macie, then later switched to a more classic version of keto with even better results.
Puberty proved to be a difficult time for Macie. She had more and worsening symptoms and we struggled to maintain ketones at levels high enough to be therapeutic. We tried fine tuning the diet with little success, so we eventually weaned keto and tried a carb-loading approach, including using corn starch. In 2014 we enrolled in the orignial C7 (triheptanoin) trial with Dr. Pascual at UT Southwestern. Despite our high hopes, it was not effective and we discontinued the C7 at the end of the 3 month study. We have revisited the diet a few times since, but we still have difficult time with achieving and maintaining ketones. |
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Currently, we manage her symptoms with frequent meals and snacks aimed at keeping her glucose levels stable. She continues to take Diamox and a few supplements that we think are helpful. Her seizures, stamina, and energy levels have very much improved in the last year or so (she is currently 20 years old), although we still see a few brief seizures in the morning before breakfast or when she is very tired or sick. Although we've never been able to recapture those two years of seizure freedom when she first started the diet, she is doing better now than any other time since. Her movement issues have always been on the milder side and more fine motor than gross, but we see a few more occasional muscle tremors or other signs of muscle fatigue as she has gotten older. She also complains occasionally of back and neck pain, which we can only attritube to some type of dystonia or spasticity flaring up. Macie received OT and speech therapy and intermittent physical therapy when she was younger, and has done physical therapy again to try to help with some of the back pain.
Macie is a happy, sweet, determined, and kind young lady, and she very much likes routine and predictability. She has moderate delays both cognitively and socially. She was home-schooled for many years but returned to public school in 8th grade. She has had a customized curriculum and the support of some great people at school and home, including her one-on-one aide in the classroom. Macie will receive her diploma this spring (2018) and is thinking about attending a secondary vocational rehabilitation program in our state. We look forward to opportunities she will have to meet other young people facing challenges and learning to adapt and flourish despite them. She especially enjoys and looks forward to our biennial Glut1 Deficiency conferences and being with dear friends she has made in the community.
The Glut1 Deficiency diagnosis has brought peace to our family with the explanation it gives for Macie’s symptoms, the difficulties in finding effective treatments, and the help it has given us towards acceptance of her special needs. It also gives us a place to focus our energy in trying to help her and a whole new family to share the journey. Macie has been such an inspiration and a blessing to our family and teaches many valuable lessons to all who know her.
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