Ketogenic Diet and After – Part 2

ketodIn this part, I describe our experience with doing the Ketogenic diet on Peu, who has a rare genetic disorder known as CDKL5 disorder. Our experience might be informative/beneficial to parents who are planning to start the diet for their child.

In India, a neurologist, Dr Janak Nathan, from Mumbai pioneered ketogenic diet as an alternative treatment for epilepsy in India. The best part of his treatment plan is that he does not need hospitalization to start the diet. Instead he conducts a four day out-patient consultation. He also provides a recipe book that he has himself written keeping in mind the ingredients of Indian meals. He and his dietician team provides orientation and hands on training to all parents and caregivers. After the first consultation, he performs a monthly review for three months and thereafter tri- monthly reviews. His team is always available over email or phone.

Ideally ketogenic diet treatment requires a ratio of 4:1 for fat: (carbohydrate + protein) content in a meal. Dr Nathan has modified that and he starts with 2:1 ratio and then gradually increases if there is a need based on each child’s response. Several blood tests were done to ensure she is eligible to get started with this diet. The first step is called carbohydrate washout where all trace of carbohydrate is removed from the child’s body completely.

dietWe as parents had to get familiar with a weighing scale, measuring utensils and best practices to stick to the accurate measurements provided by the dieticians. The idea was to have a fixed calorie intake in a day based on her weight, and then divide the calorie equally between 4 meals in a day. Each recipe would have metrics like total energy in calories divided further into energy from fat and energy from carbohydrate + protein. While preparing a meal, we needed to measure each ingredient as per the recipe provided to us by the dietician. For an example, in a meal of 250 kCal, to acheive a ratio of 2.7:1, we gave 44 gms of a specific type of vegetable (carbohydrate), 24 gms of fish (protein) and 20 gms of oil (fat). We gradually developed a routine to prepare 4 meals a day based on the measurements provided in each recipe.

In our case, we started with 2:1, then went to 2.5:1, 3:1, 3.5:1 and then finally settled with 2.7:1 as anything above 3:1 was causing her to vomit incessantly. This fine tuning was done probably in a month’s time. Within a month we also discovered that Peu had egg allergy, could not tolerate cheese and considering the food ratio, we could give very minimal amount of fruits. We had also restricted intake of Gluten (wheat), Casein (milk), Soy and Corn because of their relatively high glutamate and asparatate content known to cause neuro-excitement. However this restriction was never a part of the ketogenic diet rules but we applied it based on some studies that we had read. Besides the diet, we started multivitamins, multi-minerals and calcium supplements as recommended by the neurologist.

Snap3One very important aspect of maintaining ketogenic diet was ensuring her ketone levels were high through out the day. We did this through keto-stix, which is measured from urine sample (a few drops). Our attempt was to obtain the highest level (4++) at each of the four times we measured through out the day. Now besides the seizure log, we maintained urine ketone levels log on a daily basis. After several fine tuning measures, we attained 4++ level all times a day but missed the early morning reading as there was a gap of 9 hrs between dinner and breakfast. We even tried to feed her at 2:00 AM, in order to achieve the ideal ketone levels. We tried very hard to be accurate as much as possible. As per doctor’s advice we altered the last meal ( dinner) to be at 3:1 ratio but due to her intolerance, we had to discontinue. However, in a span of a few months with observation and experience we could nearly attain 4++ all four times of a day.

All this and more had to be done on a daily basis and there were no holidays or gaps during a trip or festival. All meals had to be accurately measured and last bit had to be fed ensuring no spillage or wastage.

We put in so much effort with just one objective of getting her seizures under control. We read several stories of parents, for some seizures stopped after the second day, for some in 15 days  and for some in a month. Our doctor said it might take 1-3 months for the effect to get started. We were ready to wait. The first effect we saw was increase in seizures. We self consoled, maybe since the metabolism of her body is changing from glucose as a source of energy to ketones as a source of energy, her body might be reacting with seizures. Well we were not wrong. Any small little change that occurs in her body or her environment her body reacts with seizures. This is true till date.

We waited for 6 months, following the diet diligently with precision but saw no sign of seizures stopping. Her blood work during our monthly visits to the doctor, turned out to be fine. As per the doctor, the EEG showed improvements. We remained hopeful. The effort we put in were:

  1. Ensure there was never a break in her measured meals.
  2. Ensure we prepared each meal that was palatable and tasty.
  3. Travel with a special needs child who is very sensitive to noise to meet the doctor on a regular basis.
  4. Discipline ourselves and curb our urge to feed her when we were having a dessert or any normal food.
  5. Create a customized recipe book.

Nevertheless we continued and decided to continue as we had run out of all options. There was no other method to try to contain her seizures. All we thought was maintain 4++ ketone levels though out and we will reach our target.

The best part of the diet was that we gradually tapered her off all the two medicines. For Valparin, we had stop it abruptly as her platelet count had dropped drastically. We also got freedom from the deadly Rivotril (Klonopin). We continued with her multivitamin and multi-mineral and calcium supplements. After stopping all medicines and with the diet on, we definitely could see some alertness and vocalization in Peu. This was enough to keep us going on with the diet.

Approximately in an year’s time, September 2013, her seizures stopped. We were overjoyed. But this period lasted for around 2 months. I had started a protocol to kill germs and worms in her body but it probably disturbed some form of balance in her body resulting in her seizures to be back in a terrible way. Another probable mistake I had done was to stop her supplements briefly, I thought her meals were good enough and the ocean water that I gave her was sufficient for supplementing her with all minerals. If I look back I realize that we learn through mistakes. This experience was needed to discover the hidden piece of her uncontrollable seizures. Her diagnosis of a genetic disorder did solve the puzzle partially but we had yet more to discover. One of the lessons learnt is never to stop her supplements. With numerous years of taking anti eplileptic drugs and high ACTH steroids for 7 months, she definitely needs the multi-mineral supplements.

In my next post, I describe how Peu’s health was impacted by this strict diet and how we finally weaned her off ketogenic diet. During this process, we  discovered some vital clues to keep her seizures under control.

In three years of using ketogenic diet, I have gained knowledge about nutrition, natural food, calories, and several other aspects of healthy nutrition and food habits.
I perceived that we should consume fat as less as possible, the reality is that healthy fat is needed by your body and brain. Healthy fats are more essential than carbohydrates. Reduce carbohydrate (grains) but have adequate quantity of healthy fats. This useful information is valid for all of us.

Feedback and inputs are welcome from all.

 

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Ketogenic Diet and After – Part 1

ketod

The Ketogenic diet is high in fat with standard protein and low in carbohydrates. This combination allows the body to generate ketones which becomes the primary energy source for a body unlike glucose in an usual case.
Due to high ketone bodies in blood a body reaches a ketosis state and that leads to reduction of seizures. One of the very useful resources is the Charlie Foundation web site. I also found the Ketogenic Diet India.org site useful. This is an accurately calculated diet supervised by a team of doctors and dieticians.

In this series, I share our experience with Ketogenic diet as an anti epileptic treatment for my daughter, Peu who has a rare genetic disorder named CDKL5. Based on what I have read and heard so far, our experience seems different. In fact, after weaning Peu off the diet, we discovered causes for a few of her underlying health issues, the hard way. Several of the unexplained issues just fell in place. During this span of last 3 years, I have made several observations and discoveries about Peu’s health condition. However I am yet to nail down the core reasons for her health condition but hope will reach that milestone soon. The lesson learnt from this experience is that there is no short cut for positive results. One has to learn from experiences through trial and error.

I wish to reiterate that what I share here is specific to Peu and might not be applicable to any other child. Nonetheless your thoughts, feedback and experience are valuable to me.

We started the ketogenic diet in October 2012. Peu was two and a half years old. After trying multiple anti epileptic drugs and two courses of ACTH, which failed to stop her seizures,  I was keen to start the diet. I educated myself with lot of information about the diet. There are numerous resources available on the internet. I felt we would finally attain success to control her seizures. During those days, unaware of her diagnosis, we thought once we control the seizures, all problems ( developmental delay with hypotonia and CVI) will get solved and things will bounce back. Today we realize, it was a futile attempt. Her genetic condition is the underlying reason for all the delays and not the seizures. Her body uses seizures to show in a brutal way that her brain has a serious issue. I also read somewhere that due to the short seizures, a more severe damage of the brain is avoided but am not sure of its authenticity.

Before our first visit to the neurologist who prescribed ketogenic diet, we had already started low glycemix index (LGI) diet at home. We did see a reduction of seizures both  in intensity and frequency  which just strengthened our hope that Ketogenic diet is THE solution for her seizures.

These days some doctors prescribe Ketogenic diet as one of the mainline treatments for refractory seizures. However we chose it as the last treatment option after having tried majority of the drugs. We realized one route was exhausted and now needed to start another route to treat her seizures.

I agree that starting and maintaining the diet is a time taking process but eventually you develop a routine around it thus making it manageable. However there are three genuine challenges for starting and maintaining the diet with your kid:

  1. if you have siblings of your child who are on normal diet. it leads to extra work for you.
  2. If your kid is cognitively aware of what he/she is not allowed to eat and she gets access to the barred stuff at home or at parties, at school etc., it  might be difficult to maintain the ketone levels and might lead to other consequences.
  3. If you travel outside of your home along with your kid, it requires a lot of planning to ensue that you can stick to the diet round the clock. But extra planning and preparation is always needed when you travel with a special needs child with or without diet.

In my next post I will share our experience with starting and maintaining ketogenic diet for my daughter and its effect on her seizures.

Your input and feedback are welcome.

 

 

 

Transformation

counseling_transformation

‘My life has changed after my child was born’ !! Most parents will nod after reading this statement. Special needs parents will nod vehemently. I recollect, not with melancholy, but with awe how our daughter Peu has been impacting our lives. In this post I humbly describe how Peu, who has CDKL5,  a rare genetic disorder has facilitated a positive transformation in our (her parents) lives. And you may ask, ‘how will this post benefit parents?’

This post will help you reflect and visualize the little things that have changed in you because of your precious child. Your positivism will enhance your energy to work with her and enable all possibilities further.

Spending time with Peu as her caregiver has had an immense impact on my degree of sensitivity. I realized that Peu has always communicated her likes, dislikes and fears. However it took years for me to reach a state where I could understand all her expressions. All these years must have been frustrating for her but now things can only get better. In order to achieve this sensitivity, I had to be watchful of her subtle expressions and gentle gestures. Her response time is relatively higher than that of an usual kid. I was mindful of her response. The results were priceless. When she realized that her expressions were understood, she communicated more and got closer to me. I use language and she expresses by distinct vocalization, or by expressions or merely by her hand or body. Our bond is apparent, noticeable to one and all. My growing sensitivity has been beneficial in several ways:

  • Her expressions provide clues to a seizure that is about to happen and sometimes I can mange to avoid it temporarily.
  • Understanding her response to a particular environment helps me to avoid situations that could trigger a seizure in her.
  • During an interaction with another child, I become Peu’s interpreter that results in a playful communication between two kids.
  • While interacting with others, I can step into their shoes effortlessly thus resulting in a fruitful communication always.

While exploring about the Anat Baniel Method, I read the book ‘ Kids Beyond Limits‘ by Anat Baniel that highlights the nine essentials. The essentials, slow, awareness, subtlety, and movement with attention has had an impact in my life . Besides applying these essential while I work  with Peu, I have internalized these into my daily living and have seen myself grow into a calmer and patient person. On applying the essential ‘slow’, each and every task is accomplished with a relatively better quality result.

As we moved out of anti epileptic medicines and started ketogenic diet to control Peu’s seizures, a new door opened for us . We got an opportunity of enrich ourselves with knowledge on a plethora of topics such as green health, diet, wellness, naturopathy,  brain plasticity, neuroscience and more. This knowledge has not only helped Peu but has given us immense confidence to lead a healthy and stress free life that will benefit Peu’s well being in the long run. Simultaneously we have also been able to influence our family and friends to adopt a healthier lifestyle. Our knowledge base continues to grow and personal experience strengthens each piece of our acquired knowledge.

There are specific groups and forums connecting parents who have a special needs child. A group of parents who are on the same boat is far more supportive and accessible than any doctor. Reaching out to parents for emotional support, sharing or seeking information/experiences has helped us form a new kind of bond worldwide.These groups are a virtual support system and a full time helpline for all special needs parents. One finds love and solace  while interacting with parents on all kind of topics we face on a daily basis. I have made good friends and such strong bonding was only possible because of Peu.

Dealing with life threatening issues on a daily basis for months and years together has made us into human beings built of steel. Imagining that we have reached the rock bottom and nothing can go worse beyond this has provided us an inner confidence to handle any situation with courage and indifference. Consequently we have transformed into down to earth, compassionate, honest, and humble human beings.

The title of my blog, ‘My daughter, my teacher’ finds some confirmation in this post. She continues to facilitate an awakening within me. I strive to cultivate simplicity in all aspects of my life.

We need your blessings and well wishes for our little Peu incessantly.

Your experiences and feedback are welcome.

Therapy

trophy

What is the role of a dedicated coach assigned to a sports person?

  • To enable the sports person to enhance his or her performance
  • To facilitate him/her to reach and exceed his or her potential.
  • To empower the sports person to achieve his or her goals objectively.

The coach becomes the player’s ultimate guide. The coach works hard to apply the best techniques, methodology, observes the response of the player’s body, makes appropriate changes to come up with a customized regime. First and foremost they work in sync and the coach becomes one with the player.

I draw a similar relationship between a caregiver and a special needs child. Being a mother/father of the child you are already one with your child. You need to figure out all available options, study their feasibility, apply, identify his/her response, and modify accordingly to obtain the best/desired results. All this should be enjoyed and done with passion and not with self pity and drudgery. Life becomes beautiful for you and your child. However, there are two primary differences between a coach and a special needs parent:

  1. A coach is highly skilled, confident and experienced in his field where as a special needs parent is a novice, shaken but hopeful in his/her role of a dedicated caregiver
  2. A coach follows a strict discipline, difficult routines and strenuous workouts where as a caregiver uses loads and loads of love, affection, softness, gentleness, subtlety, sensitivity and extreme flexibility to achieve goals.

In the following paragraphs, I discuss about the various therapies that we have tried for my daughter, Peu who suffers from a rare genetic disorder, CDKL5 and my transformation to being her dedicated caregiver.

From the age of six months until she was two years old, we applied conventional physiotherapy and neuro development therapy on Peu taking help from one of the best physiotherapist of Bangalore. Unfortunately, most of the sessions turned into crying sessions and many a times ended with spasms and a full blown seizure. Our concerned physiotherapist recommended to stop physiotherapy until her seizures are under control and showed us some techniques we could apply on Peu, at home. We also did occupational therapy and speech therapy at home as taught by therapists. However Peu did not respond to any of these therapies. During this time, we also tried Vojta ( pronounced as Voyta) therapy without any major results.

When Peu was 3 years old, we tried Craniosacral therapy and Ayurvedic Acupressure using magnets practiced by Sangeetha Bhandari, in Bangalore. She never promised anything but requested us to try Craniosacral therapy for at least three months. Craniosacral therapy is a touch based therapy and Peu never resisted her touch and remained calm during the sessions. After three and a half months, for the first time, her seizures stopped for a month. At that time, we did not have her diagnosis and became very hopeful. We could continue with Craniosacral therapy for six months and then stopped as we moved out of Bangalore. However we still apply acupressure using magnets with guidance from Sangeetha mam.

A parent introduced me to ABM and the book ‘Kids Beyond Limits’ by Anat Baniel. This book brought a major transformation in my thought process. The nine essentials discussed in this book were an eyeopener for me. Each time I read this book, I discover something new that could be applied effortlessly on Peu in my daily interaction with her.

Other books I read during that time, which were very informative are, Little Bear Sees  and Son, Rise: The Miracle Continues. These books are written by special needs parents who have shared their valuable experiences. For a brief period of two months, we also tried a protocol called CD protocol, found by a special needs parent. which has shown promising results to cure regressive autism for several children worldwide. It did not help Peu and hence we stopped it.

Cyndi Manes, an ABM therapist worked on Peu and we saw immediate results in terms of responsiveness and attentiveness. During this time, her seizures were in control and we observed developmental progress in Peu. Cyndi was very kind to show me certain moves that we could do at home with Peu. During the ABM sessions, Peu showed no resistance, cooperated with Cyndi and she seemed to love the lessons. The only disadvantage was that Peu detested the noise of the busy therapy center. Despite the noise, she showed progress with ABM  performed by Cyndi.

During an ABM session with Cindy
During an ABM session with Cindy

Besides, Cyndi, Carole Keefe and Sylvia Shordike provided a few ABM sessions to Peu. Both of them gave positive feedback about her response to ABM.

Meanwhile we also tried MNRI for Peu but were perplexed by the rigid techniques and decided not to continue it. We were told that it would take at least six months to see any response, but we tried it only for a month.

We have seen innumerable success stories of special needs children with miraculous achievements amidst challenges. There is one common factor in most of these success stories – a parent was closely involved in advancing the child’s potential and during the process the dedicated parent discovered a unique methodology that worked wonders for his/her child. Such parents have shared their unique methodology and continue to do the noble work of working with parents from all around the world and teaching them.

We were fortunate to have learned from two such parents and received an insight into their unique methodology:

1>Movement Lesson by Michelle Turner from Arizona, USA. Her videos are detailed and extremely useful. Visiting her in Phoenix for a 5 day session helped us understand the science behind her concepts. Her lessons with Peu and me gave clarity to her unique yet simple methodology. Her statement: ‘A brain always wants to learn irrespective of the diagnosis’ inspires us to work harder.

2>Snowdrop Program by Andrew Brereton from UK. He provides a home based program specific to each child, to be performed preferably by the child’s parents. In Andrew’s words, ‘ It is a program of developmental activities designed to stimulate the plasticity of the brain, and to direct that plasticity down the developmental pathway which the child needs to travel’. Snowdrop was introduced to me by Poorna Sehgal, a dear friend and dedicated to her dear son Dev.

Peu is very sensitive to loud noise and voice and it acts as a trigger for her seizures. It is a challenge to take her to therapy centers without exposing her to noise. We realized that doing it ourselves at home, not at a specific time, but continuously as and when we are with her, brings out the best results. Movement Lesson videos and the Snowdrop Program, both formed excellent aids for me and matched with my concept of therapy for Peu.

Besides, we expose her to a specific chanting mantras (Hindu and Buddhist) music which could calm her nervous system in the long run. We practice a couple of Yoga Mudras using her fingers, again with the aim to calm her nervous system. These have been advised by highly learned and experienced people.

When Peu was 4 years old, I quit my job and took complete charge of Peu in all respects and realized how communicative she was. I matured into a very sensitive person and discovered that my full attention to her could impact her development in several ways. It was a turning point in my life. I quit my professional career to build a new career as a ‘coach‘ for Peu. It was far more rewarding and satisfying. I use my brains and energy to facilitate development in my own child instead of working for some external company.

Today, we have numerous therapies available, physiotherapy, occupational therapy, intensive therapy, hippo therapy, neuro-development therapy, craniosacral therapy, music therapy, speech therapy, aqua therapy, .ABA, MNRI, ABM, Son Rise program,..the list is endless. My learning so far has been that as a caregiver, I should:

  • Develop the sensitivity to realize which therapy works best for my child and based on my child’s response develop a customized therapy program.
  • Educate myself, learn and seek help from experts constantly.
  • Ensure that there is no pain but play during therapy and there is minimal resistance but some participation from my child during therapy.
  • Define what success means for my child and aim to achieve it with lot of flexibility.
  • Practice therapy not as a rigid set of exercises at a specific time but as a smooth and continuous process integrated with my interaction with her all through out the day.

We still have a long long way to go before claiming success for Peu but her subtle progress and her spirit to keep trying motivates us incessantly.

I look forward to your inputs, advice, thoughts and feedback.

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.

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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?

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I look forward to your inputs and comments.