This post is about my experiences during our stay at San Antonio, Texas. We moved from India to San Antonio with two goals in mind: facilitate some development in our four year old daughter and figure out the cause of her daily uncontrollable seizures. Each and every day in USA, was eventful for us. In this post, I describe those events briefly that have led me to believe that : Whether you are in a common yet challenging situation or in the deepest dungeon of despair, there always is a ray (or rays) of light. Remain calm to discover that ray and form a path of hope and possibilities.
A couple of my interpretations expressed in this post might appear silly or funny but my logical mind developed those to make me tread forward amidst the difficult times. I am sharing those thoughts because they have helped me and in turn helped Peu progress.
We had a good start in our new home away from home. Peu’s dad had set up the home optimally and beautifully. My brother and sister-in-law sent us a bouquet as a house warming gift. It was a sweet welcome gesture.
The second weekend after moving to San Antonio, we started our ABM sessions with Cyndi Manes, the only ABM practitioner in San Antonio. Cyndi accepted us with an open heart. She was excited to see us but at the same time found Peu to be a unique child based on her vast experience of working with special needs children. From the first day, Peu gelled with Cyndi. The calmness with which Peu accepted her touch, gentle moves and subtle lessons was my first ray of light. For the first time, Peu did not cry in a therapy session. Our hopes strengthened and we witnessed some immediate changes in Peu in terms of alertness and awareness.
We met Alisa Franklin at Cindy’s place and she inspired me with her energy and capacity to toil to get her son to reach his potential. She educated me about Dr Christine Roman Lantzy, a specialist in CVI and provided me the name of her book, Cortical Visual Impairment:An Approach to Assessment and Intervention that is a must read for every parent with a CVI affected child. Alisa connected me to a CVI parents group that has a tele-conference call every Tuesday and Dr Roman attends the call the last Tuesday of every month. Dr Roman answered several of my queries in such calls. Alisa was my ray of light in a foreign land. She was always there to answer my queries.
Meanwhile, we got the ball rolling to set appointments with Dr. Harry Chugani in Detroit for surgical evaluation and a Pediatric Neurologist in Austin for examination, review and monitoring as Peu was on the ketogenic diet for the last 1.5 years.We received a jolt as we gradually settled in the new place. Peu fractured and dislocated her left arm in such a way that she had to undergo surgery. The doctor had to insert rods and plates in her arm to keep the bone in position for proper healing. We were saddened with this pain. In-spite of the surgery she appeared content. I saw a ray of light in her smile.
Until then, Peu never used her right hand, no matter what. After the fracture, because her left arm was fixed, for the first time her brain recognized her right arm and she started using her right hand and rolling to the right side. A day after her arm surgery, her big tonic clonic episodes stopped completely and this period lasted for good eight months. The seizure control, gave us hope and we started seeing her development kick in. For the first time in four years, Peu understood what neck/head control was. She managed to hold her head straight for more than 10 minutes. This was another ray of light.
I thought of possibilities. Usually a child gains neck control at 3-4 months and Peu had it at 4 years. I did some simple math and hoped that she would sit on her own at 6 -7 years and walk un-assisted at 9-12 years. My path of possibilities was paved.
Post surgery, we visited Dr. Harry Chugani in Detroit. After examining her and listening to our 4 year long painful ordeal, he advised us to get a set of genetic tests for the Infantile Spasm category, done at Baylor university, Houston. He also mentioned that her symptoms matched with CDKL5 disorder.
Peu was reviewed by the Ketogenic diet doctor and during the stay in the hospital, he ordered for the genetic tests to be done at Baylor. He too guessed that Peu seemed like a case of CDKL5 genetic disorder. He, very patiently and calmly explained us the prognosis and what we should be prepared for and also provided us a contact to connect to a similar parent. It was the darkest day in our life. The results would be given after 4-6 weeks so we got back home not at all waiting for the results.
Peu underwent a second surgery to remove the plates and rods inserted in her arm.. Her left arm looked fine now. We restarted with ABM sessions during weekdays, which meant I would need to drive her to the therapy center. However, we had one car which her dad used for office commute. While working out different options, we saw our ray of light in an Ethiopian cab driver, Mr Benny. He willingly agreed for no additional charges, to do pick-up and drop-off from our home to the therapy center, three days a week at a specified time. He did this without fail, each and every week for several months.
It took 4 weeks for the genetic test’s result to come in. We were not eagerly waiting for the result but a phone call from the doctor’s office brought an end to our four years of frantic search for an answer. Peu was diagnosed with a de novo (new, first time in our family) genetic mutation in the CDKL5 gene. The puzzle of early onset of uncontrollable seizures, CVI, and global developmental delay had a name for us now. We recalled what the doctor had explained : most kids aren’t able to walk, talk or have any meaningful cognition and pass away due to an infection that the body cannot fight. Two of us wanted to hide our tears from each other trying to show our strength.
We had an appointment with a geneticist for counselling. During his explanation, he said that Mother Nature did the mutation by fluke. At work we were exposed to a stringent QA process at every stage of a product development till production. Hence naturally, I popped a question to the geneticist, ‘Does Mother Nature have a QA mechanism’? He replied, ‘Yes she does have but there are so many million things to test, this mutation might have been missed out’. I kept quiet but I had identified my ray of light. If Mother Nature did not detect this genetic mutation during its QA process, then Mother Nature knew that this life has the capability to survive in this world. I build my path of hope and thought of possibilities to help her thrive.
We got connected with several Facebook groups of CDKL5 groups and benefited with the care, love and knowledge sharing that happens in these groups. We also got connected with the international foundation of CDKL5 research (IFCR), founded by a group of CDKL5 parents. This foundation is dedicated to find a cure for this disorder besides doing invaluable work to support, educate, and help the parents and the CDKL5 kids.
I end this post with an assertion that a positive mind filled with love and affection can do wonders.