It’s everywhere at the moment! I hesitate to post specifics about my theory at the risk of ridicule from other CDKL5 familes following Harper. However, I will disclose my information anyway stating that Harper is in fact at the moment 1 of 1, not 1 of 300 as she is at this time the only documented case with an insertion in her gene rather than a deletion or mutation which could make the difference with the patterns I am seeing.
Over 21 months I’ve collected data on Harper. Over the last 10 months I’ve been convinced, based on my data gathered along with information obtained from others in our CDKL5 support group, that Harper’s condition hinders her ability to appropriately breakdown carbohydrates/sugar causing a reaction with that reaction being a seizure. Do to lack of research on her disorder and lack of research that suggests the CDKL5 gene serves a function in the processing of carbohydrates metabolic specialist’s hesitate to address her case. Texas Children’s Hospital’s neurological department was willing to entertain this theory and get me a visit from the metabolics team while admitting us to the hospital and re starting her on a very low ratio of the keto diet.
I have asked metabolics to evaluate in Harper only the enzymes used in carbohydrate digestion through a fasting and non fasting test in an effort to possibly help move Harper’s diet and/or medication regime in a more productive direction of reducing her seizures. They are in discussion on whether or not they feel the information provided would be interpretable and useful in such a manner despite the fact that the tests can be performed. Thus far they are hesitant to move forward but they have not given a final decision at this time.
I am more than appreciative of their time and willingness to discuss Harper’s case with me and have asked for at the very least a list of the specific clinically testable enzymes used in carbohydrate digestion. We remain positive about this opportunity regardless of the outcome as it is one of many Harper will receive in her lifetime.