Diagnosis – Part 2

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.

Flowers
Flowers

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.

surgery
surgery

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.

Neck control

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.

Diagnosis – Part 1

This post is the story of my daughter’s diagnosis, which we received when she was 4 years and 2 months old. Till then we were clueless. My daughter Peu, has CDKL5 disorder, a rare genetic disorder marked by early onset of seizures.
The objective of writing the story is to reiterate my belief that when you want something very badly, or have your goals clear in your mind, the whole world around you comes together and helps you to make it happen. In this story, I describe how we could meet our goals with every one’s kind support. The key takeaway from this post is ‘set a goal, do not get stressed out about the goal , think about it and work on it consistently. It has to happen’.

It was over three years, we had been trying to control Peu’s seizures. That was the only focus for us and all doctors we met in India. We thought, we could kick in some development in her if and only if her seizures stopped. We relentlessly strove to achieve freedom from seizures. No medicine seemed to help and as a last resort, we started ketogenic diet continued it, hoping one day it would stop her seizures. Amidst this chaos, we were intrigued by not being able to solve the mystery: “why does she have the seizures”. All possible tests ( metabolic screening, skin biopsy, MRI and hundreds of other blood tests) available in India, came back normal. There were many speculations and the reasons which seemed plausible were her dipping heart beat during labor and any trauma resulting from the the umbilical cord wrapped three times around her neck. However none of these were conclusive and most doctors agreed that the consequence could not be so devastating. We desperately wanted an answer but un-willingly accepted the diagnosis of ‘Cryptogenic Infantile Spasm’ and assumed the cause will remain a mystery for ever.

Her EEGs never showed any specific focus, yet I wrote to Dr Harry Chugani, who specializes in surgery for Infantile Spasm cases, asking for help. He immediately responded and asked us to do a PET scan. My heart skips a beat each time I see the video. The PET scan report, clearly read ‘ hypometabolism in the left temporal lobe’, which meant there could be one specific problem area in her brain . My hopes raised, maybe we could stop her seizures surgically and I imagined, how after surgery she would start doing things that we were desperate to see her do. I read a lot about pediatric neuro surgery. This was when Peu was 18 months old and I set a goal of vising Dr Harry Chugani in Detroit, USA. Seemed like next to impossible but there is no harm setting it in your mind. Meanwhile, Dr Chugani, recommended us to visit, ‘Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Kerala, India’ for surgical evaluation. After two days of EEG monitoring, the doctors at Sri Chitra Institute concluded that she was not a surgery case at present. All my imaginary scenes fell flat. We got back to our efforts to control her seizures.

When Peu was around 2.5 years in October 2012, I read about the Anat Baniel Method (ABM) from the Infantile Spasm Yahoo group,and how it was very effective for special needs children and that it was based on the principles of brain plasticity. I immediately bought her book ‘ Kids Beyond Limits  ‘ and got her DVD ‘Children With Special Needs ‘ . My dream to apply ABM on Peu got recorded in my brain. Her book fascinated me. I tried to follow her suggestions from the book. Meanwhile I worked actively to figure out if an ABM practitioner could travel to India. We found a practitioner, Robin Peter Zander who willingly agreed to travel to India and see a small group of children. He was flexible and ever willing to make this trip happen. ABM was unheard in India and it is expensive. Convincing other parents for an intensive ABM program was a tough task, due to the huge cost involved, and I gradually stopped working on it aggressively. However my wish to apply ABM on Peu grew stronger.

I joined facebook groups of parents whose children received ABM therapy. They are informative and the discussions are useful. When I had posted a query in one such group, regarding Cortical Visual Impairment (CVI) . Michelle Turner messaged me with various techniques and shared with me several videos for free. Michelle is a movement integration specialist and educator. I saw an instant effect on applying the techniques shown in her videos. Her detailed videos are extremely useful. The advantage was that her sessions are not as expensive as ABM and she was always available to answer your queries. Thoughts about having her travel to India came up in my mind and I shared the idea with other parents in India. Incidentally, she has started making trips to India and her second visit is scheduled in August 2015.

In my response to a message to Anat Baniel, she wrote that the method would work best if her seizures are controlled. In September 2013, for the first time in three years of Peu’s life, her seizures stopped. This was the time when we had completely weaned her off all medicines and she was on ketogenic diet, for past one year. I realized it was the time to take action and apply ABM on Peu. This was when my goal became concrete and things started falling in place. We set a goal to move to US so that we could provide ABM sessions on Peu as soon as practically possible.

First and foremost, we needed a visa to move to USA and that would be possible if one of us got a job in USA. Peu’s father started his job search. It seemed like a coincidence or maybe because our goal had to be met. My husband got a job opportunity in San Antonio, Texas. It seemed our first pre-requisite was met. There were a series of tough interviews with his potential employer and Peu’s dad seamlessly cleared them and he had an offer to join in January 2014.

I found that San Antonio had an ABM practitioner, a physiotherapist named Cyndi Manes. I was overjoyed. She immediately responded to my email and helped me by hand holding me with the steps that needed to be completed beforehand, so that we could see her as soon as possible, after reaching San Antonio. She being a physiotherapist (PT) was an icing on the cake because medical insurance in US does not cover ABM sessions but it does cover PT sessions.

My husband had to travel earlier than us so that he could make all suitable arrangements before Peu landed in San Antonio. The next challenge was me travelling with Peu on a 30 hours flight. My brother, Dipangkar volunteered to come down to India and accompany me and Peu to San Antonio, while Peu’s father got things ready for us there. This issue also seemed to have got resolved.

My brother, mother and father in law (Bhowmik family), most willingly took up the responsibility of looking after our house and set up in Bangalore, India.

Our family friend, the Bharadwajs (Nishita and Shankar) unconditionally accepted to take care of my ailing father while I was away in another country for my daughter.

My school mate and dear friend Shyamlee, wholeheartedly agreed to visit and give company to my father.

My office colleagues and manager had always supported me for the last 3 years while I worked from home and then supported my decision to quit my job before traveling.

I conclude the first part of this post reinforcing my belief that when I have set a goal everyone around me will come together and support my efforts to make it happen.

In the second part of this post, I will describe how our goal of seeing some developments in Peu was met and how the mystery of her uncontrollable seizures was solved.

smile2

My Evolving Thought Process

This post is all about how I changed my notions. I share a few personal experiences of Peu, my daughter who is diagnosed with a rare genetic disorder (CDKL5). These simple experiences have helped me remove some of the misconceptions that had been with me for some time. Many parents will relate to the situations that I have described. However, you might have had a different approach or a different outcome of those real life events.

  • Our repeated hospital and emergency room visits started just after two weeks of Peu’s birth. During the early days of our hospital visits, we were terrified and looked up to the doctor with a strong belief that he /she can cure everything. I thought, we just need to leave everything to him. This was a wrong notion. Doctors are highly qualified, skilled and have vast experience in their field. They always strive to provide us the best treatment option. However, what we forget is we know our child better that any body else. Doctors will  be able to support us better if we help them with our personal inputs & observations.
    During one of the hospital admissions, we were advised to go for a feeding tube for my daughter because seizure patients have a very high risk of aspiration pneumonia and it would be best to start with a NG tube and then move to G tube. I was dismayed with this advice. Peu has never had trouble to swallow, she loved her food and enjoyed her meal times. How could I rob her from the only thing that she enjoyed and make the whole process mechanical for her entire lifetime? I opted not to put a feeding tube for my daughter. It was huge risk on my part but I have no regrets. I was extra cautious during her meal times. Today she chews and uses her teeth and simply loves eating her food by mouth. During her recent swallow test, the speech therapist was amazed at her mouth skills despite the other issues. Trust your (mother) instinct, take charge and be the one to make decisions.
  • We tend to rely on medicines for each and every issue that our child faces. Until and unless it is an emergency situation, could we work harder to help our child to cure naturally? Every human body has an innate capacity to heal herself or himself . Our body constantly works to identify and fix health issues but it takes some time to see the results visually.
    As a side effect of ketogenic diet, after two plus years of being in the diet, she faced acute acid reflux and GERD symptoms. I was advised to start with a medicine and if that did not work in 15 days, try another and also to get a few tests done. Since it was not a life threatening issue, I decided, first to allow her body to heal by itself and aided her in that process. I did a thorough research on acid reflux and educated myself with all details and available routes of prevention, treatment of symptoms and cure. I made some dietary changes, used a few natural products to aid digestion and stomach acid secretion, reduced her food intake for a few days and constantly observed the effects. After three months, Peu was free from acid reflux, naturally. I follow the same route to fix her constipation issue. Trust the natural healing power of your child’s body.
  • We think seizure medications are our child’s rescue medicines and all our concerns are silenced by a single belief that the benefits of these medicines outweigh their side effects. How can we be so sure of this, when none of these medicines have been tested on children under four. Besides, where is the data to show the effect of these multiple drugs working together in a body? Our kids are having these from as early as one month!Here is a list of anti epileptic drugs that I gave my daughter and their effects:
    1>  Phenobarbital : Rashes after 10 days. Hence stopped after 10 days
    2> Valparin/Depakote: Started at 1 month and stopped abruptly at 3 years. Her platelet count had fallen to a dangerously low level.
    3> Keppra: Started at 1 month and weaned off at two years. Her eye balls used to tremble.
    4> Rivotril/Klonopin: Started at 6 months and weaned off at 3.5 years. I think her hypotonia worsened with this medication.
    5> Vigabatrin/Sabril: Started at 7 months and weaned off at 1.7 years. She was extremely drowsy always.
    6> Frisium: Started at 1.year and weaned off at 1.2 years. She was completely inactive and drowsy.
    7> ACTH: Gave her ACTH injections twice, once for a month and another for seven months. We had to suction her every few hours with a suction machine to remove the fluid accumulated in her throat, so as to maintain her oxygen level. Besides, there were numerous other effects of high blood pressure, repeated infections, sleeplessness, continuous screaming, constantly hungry.
    8> Prednisolone: I was told to use it as a weaning drug for ACTH. I am unaware of its benefits and effects.
    In the course of 3.5 years of giving Peu so many medicines, never did we see any prolonged period, free from seizures. On the other hand, she got into emergency situations because of the side effects, where we faced the risk of losing her. However, after stopping all medicines, we had two prolonged periods ( 1 month and eight months) of seizure free days and conspicuous development. During this time she was on ketogenic diet. We have also figured out that if she is in a relatively quieter environment, her seizure control is the best. Use a max of only two anti epileptic drugs at a time. Try the modified ketogenic diet and work hard to figure out a natural way to control the seizures.

These and several similar instances have been instrumental in changing my mindset/approach to handle the daily challenges and helped me to evolve into a sensitive care giver.

Before I finish my post, I want to bring forth a question that has been in my mind for some time. I do not claim that I am right but it is a food for thought for all parents. Do share your thoughts about this point.
Children born with CDKL5 genetic disorder, usually have no issues during and immediately after birth. The mother’s pregnancy is normal as well. This genetic disorder originally presents itself as early seizures, hypotonia, CVI, acute development & cognitive delay. However, we see several other issues cropping up as years pass by, such as scoliosis, feeding issues, sleeping issues, breathing issues, cardiac issues, motility issues, status epileptic-us, and immune compromise. My query is whether these additional issues are the consequences of adding so many drugs into the child’s body from as early as one month after birth?

query
I look forward to your inputs and comments.

Seizures

All CDKL5 parents eventually realize that seizures are a part and parcel of their child’s lives and it is indeed a fact. However, we parents spend majority of our time trying out various medical ways and means to control the seizures. In reality, we need to rethink this strategy.

I was also in the same band-wagon for the first four years. But we (Peu’s dad and I) took a decision of not using any medicines for seizure control and have stood by it since then. Our strategy is unconventional and many parents might not like it. Nevertheless, I will share our learning experience from Peu’s seizures and how we reached to the above decision.

I do not intend to explain what a seizure is and what are the different types of seizures. We parents have seen it all, tonic, clonic, partial, complex, absence, infantile spasm and so on and for Peu it was from the second week of her life and still goes on. Many of us have maintained 5-6 log books with gory details, captured videos, discussed the episodes with our doctors  but now if you look back, was that needed at all?

Imagine the plight of the mother, see her child seize and then log all the details in a notebook: the timing, the type, the focus, the movements breathing patterns, after effects and so on and not just once in a day, each and every time. Are those log books ever revisited by any one? a big NO!!! The videos are all there in YouTube. Enter the child ‘s name and you will see all the types of seizures at different times. But usually if I revisit those videos, it is painful to watch them. Believe me it is torturous!!

How happy a mother is when she sees her child smile.

Peusmiling
Peu smiling

But could you imagine our misfortune, this smile is a precursor to a seizure.If we observe her eyes closely, we can identify mild jerks. So every-time Peu flashes a smile, we get alert and saddened!

I can describe more about her seizures, but I need to get back to the reason behind our decision.

My experience says, there are three types of seizures:

  1. Controlled by medicines
  2. Controlled by surgery
  3. Not controlled by medicine also known as refractory seizures.

Peu’s seizures fall in the third category. Mostly all doctors say, if a child does not respond to two anti epileptic drugs, it is most likely, the child will not respond to any other. However, they also ask if we want to try a few more. We parents, still hopeful, keep on trying different meds. For Peu we tried eight anti epileptic drugs including ACTH steroid, twice. At one point of time, we pumped her with 5 meds at a time besides injecting high dose ACTH. This is what you get when you inject ACTH to your child and there are more deadly issues related to it.

Peu on high dose ACTH
Peu on high dose ACTH

We finally had to wean off ACTH as her BP had shot up too high. We still had not tried two other meds,  Zonegram and Topomax. I plan to write another post on her medicines and their effects. Hence will not write any more about it here and will focus on seizures only.

While on ketogenic diet to control her seizures, we took a decision based on a single valid point: If she gets seizures despite having medicines then she might  as well have them without the meds and without the dangerous side effects of the meds. Henceforth, after 3.5 years of continuous medication, with support from her neurologist, we could finally wean her off all medicines. That is the best decision we have taken and still stick to it. No more anti epileptic drugs for Peu.

We also do not intend to try Cannabidiol (CBD)  or Charlotte’s Web (cannabis) or Hemp oil. We have not come across a single CDKL5 parent who claims that his or her child is 100% seizure free from CBD. Hence we do not want to go into another try, wait and watch activity, because we have accepted the harsh reality that seizures are a part of her life.

Meanwhile, we constantly thought about how we could minimize the seizures naturally. All doctors say that stress acts as a trigger for seizures. No one other than mom & dad can understand their child, the best. We discovered, that for Peu, loud voice and loud noise was the stress factor. Nothing more, nothing less unless if there is an infection in her body. A striking fact: While she was in NICU at one month of age, for seizure observation, not a single odd movement, tick, jerk or spasm was observed. The primary reason, she was kept in a completely silent room with no noise or loud voice at all. Back at home after discharge from NICU, her tonics started, because there was noise everywhere and always. We have seen this behavior multiple times at multiple occasions. We are confident of our discovery.

Currently, our strategy to control her seizures is to keep her in a silent environment as much as possible. There were times, when we used to literally whisper among ourselves. Is it feasible always? No, I agree but that has worked as a 100% solution for us. Besides we also have been working on her auditory sensitivity and auditory processing issues.If we keep Peu in a soundproof room, she will be seizure free. But this is ideal not practical.
We saw some development in her, only after reducing the noises and stopping all meds.

To reiterate my point, we as parents need to identify the stress factor for our child. It could be different for each child. Once identified, nullify it,  you will be surprised with the results.

I am sure, parents will have lots of different opinion, questions and apprehensions about this post. This is completely my perspective and might not be appropriate for another child. However, I look forward to some advice, queries, recommendations and comments from parents.

Note: For detecting, if your child’s seizures can be controlled via surgery, as per my experience, Dr Harry Chugani from Detroit, Michigan would be the best to consult with. He is very responsive to emails as well.

Look forward to comments and feedback from parents.