Deepa Kannan, who has an 8-year-old son suffering from a rare condition called Congenital Adrenal Hyperplasia (CAH), bares her heart and mind about all her family has been through in trying to cope with the disorder and also about how she is spearheading an awareness movement for affected parents in India.
Please tell us a bit about your son Omkar’s condition?
Omkar has a condition called salt wasting Congenital Adrenal Hyperplasia. It is an Autosomal Recessive disorder, where both parents are carriers of a mutated gene. His adrenal gland cannot produce both Cortisol and Aldosterone, and instead produces excessive Androgens. Cortisol controls how the body copes with stress, both physical and emotional. Children with CAH are unable to cope with any stressful situation and require more steroids during stressful times, like infections or emotional shock or trauma. Cortisol also controls blood sugar levels. Aldosterone helps regulate fluid levels in the body. Individuals with CAH are unable to retain sodium or regulate Potassium. Due to this, they can dehydrate fatally without treatment or management. The loss of salt in the urine is uncontrolled and can cause acute dehydration, and very low blood pressure. The levels of salt (Sodium and Chloride) and sugar (Glucose) fall in the blood, and Potassium levels rise. This can lead to an Adrenal crisis. The excess Androgens can cause early sexual development. In girls, it can cause abnormal genital development, irregular menstruation, unwanted facial hair and acne.
When was he diagnosed?
He was diagnosed in early 2010, when he was about a month old. Newborn screening is not mandatory in all hospitals, but where he was born the test was mandatory and was done, but sadly the Paediatrician who looked at the test missed picking up the condition, and Omkar went through severe adrenal crisis and was saved in the nick of time.
Can it be called a rare disease, going by the statistic that every 1 in 2500 children suffer from CAH?
Classical salt wasting CAH, which Omkar has is rare and occurs in about 1 of 15000 children. Non classical CAH, which is not salt wasting, can be much more common, occurring in about 1 of 2500 children. Salt wasters will not live beyond a few weeks if undiagnosed and treated due to sodium loss. In other forms, it may not get picked up till much later when there are signs of high Androgens, early puberty etc
What were the early symptoms?
In Omkar’s case, since it was not picked up with newborn screening, he went through stages of Adrenal crisis. Right from birth he fed poorly, slept restlessly and cried a lot. By two weeks, the Paediatrician seeing him at the time asked why were his hands and feet so cold. When he was a few weeks old, he started vomiting and it did not settle with vomiting medication given in the ER. A day later he was vomiting jelly like bits. That night he stopped feeding and urinating altogether and was shrivelled up and dark from dehydration the next morning. He was then rushed to Emergency again, where he was admitted into the NICU and diagnosed in a few hours.
Is there a history of CAH in your family?
Let me say that this is the first diagnosed case of CAH in both families and no one even knew the existence of such a condition. Doctors asked us if we were related to each other or if any babies had died in either family shortly after birth. Both family elders did say later, on hindsight, that there had been some infant deaths. Perhaps back then they did not know what was the causation. This again, we can only assume.
What is Omkar’s present condition?
Omkar is 8 years old, living a normal life. He attends school and does everything any child does. Yet, as a salt waster, there are multiple times which cause stress and eventually hospital admissions. Excessive vomiting, diarrhoea, high fevers, virus, and other stressful event can lead to a crisis, and can be fatal if improperly managed. Due to this, most of these situations end up as a stay in the hospital where he receives IV doses, sometimes doubled to cope with excessive stress. A bad fall which causes bone breakage can also be stress and he can go into a state of shock in all of these. So we have to be thinking ahead always, and see that we avoid any situation reaching a state of emergency.
Please describe your experience of managing CAH?
Initially, like any mother experiencing emotions relating to her child being diagnosed with a condition which is potentially fatal under multiple situations, it was frustrating and sad. At that point, early on, I turned to a site in US called The Magic Foundation to equip myself with the knowledge I needed to manage the condition. So, learning as much as possible about the condition is crucial. Back then there did not seem to be any support groups, especially in India. Facebook was not as big as it is now. So there were no other parents to reassure that everything will be fine. Today, parents are more lucky that they have access to support groups all over the world. Beyond reading about it, the first few years were our greatest teacher. We went through multiple crisis and emergency situations, and really learnt as we went along. Today, I can definitely say that we are managing well. There are still situations which are beyond our control, where we may not be there to handle a crisis.
Any related complications?
Being on steroids all through life can have challenges. Even though the steroids given are a replacement for what the body doesn’t produce, we don’t know enough about long term side effects. Bone age can be an issue, if there is under treatment. I personally find his sleep and hunger affected with dose changes. Some other parents do not. When his levels have gone up, and he requires a higher dose of steroid, he is excessively tired and weepy, overwhelmed by the smallest of things. And Omkar personally had the additional complication of seizures.
What medications is he on?
He is on two steroids. The Hydrocortisone is for the lack of Cortisol. The Flurocortisone is for the lack of Aldosterone.
What kind of specialists do you consult and how often?
He sees a Paediatric Endocrinologist once every 6-8 weeks, after repeating the routine blood test called 17OHP. Based on the 17OHP levels, she adjusts the dosage of his steroids.
What resources are available to you in your city to help you manage the condition?
Absolutely no resources until we started the support group, guided by our Paediatric endocrinologist, called Congenital Adrenal Hyperplasia Support India.
Have you had to make some changes to your lifestyle because of yourson’s condition?
Since vomiting and diarrhoea can lead to a crisis, we try to eat very healthy, avoiding a situation where a simple tummy upset can lead to a chain of events. Also, we try and keep his blood sugar stable, educating him as much as we can about the dangers of high sugars in processed food out there. This is also the reason I avoid many birthday parties, and manage just a couple each year, because in today’s world, at a birthday party, a child cannot get anything which is not without high sugars, trans fats or processed foods.
Has it been difficult emotionally to cope with your condition?
Initially it was draining, more than anything. Racing to the Emergency Room in the middle of the night for various things, was difficult. Being empowered with more knowledge, and of course the experience of actually managing many situations has made it much easier on us now.
How has your family supported you?
When he was diagnosed, my family was in another city. My husband’s mother was ailing and old. So at the time which was hardest for us, we did not have anyone to help. Today, my parents live next door and my mother has also learned to manage many CAH situations.
Have you ever gone in for counseling?
No as we had each other to talk to. Neither of us felt the need for it.
Can you share a particularly challenging moment?
I think of all the situations we faced, right from H1N1 scare to a full blown Pneumonia, probably the scariest situation was being in the middle of the ghats driving somewhere, after a snack at a coffee shop, Omkar vomiting, looking listless and sleepy like he was dehydrating, and knowing the place we were reaching had absolutely no big hospital to manage a crisis. We did manage with oral rehydration and medication when we reached, but this does not happen all the time. Sometimes they cannot even keep the medication down, in which case they have to be under IV. That taught us to become even more cautious than we were already.
Does Omkar go to school?
Yes he does. Some schools did refuse him admission, as they didn’t want to take on the responsibility. Finally he was accepted in an international School, which was really against our Philosophy initially, but they are taking wonderful care of him. My grouse with India is that many schools refuse many children like Omkar, on grounds which are irrelevant. They can be managed very well. All parents need is to give them some Resources and keep them informed about what they need to.
What are the things he enjoys doing?
He loves animals, to the point where we now have 5 dogs and he wants to adopt a stray puppy whenever he sees one. He enjoys swimming. He loves Geronimo Stilton and fantasy and mythology on television.
How does he cope with his illness?
Wonderfully! He has known no other life, so he thinks blood tests, medication and certain restrictions are a way of life. He is so much in sync with his body that he can tell us his head is hurting before an impending seizure or that he wants to go to the doctor when he is beyond a point of just resting and recovering at home. There are times he argues like any child asking for junk food. But he understands that it can tip him over the edge and instead asks me to cook a healthier option of something he has seen.
What was the hardest part of the treatment ? What kept you going? How has this changed your life perspectives and ambitions.
Initially, not knowing enough, and becoming scared for a vomiting or diarrhoea episode was really hard. When he became breathless at 6-7 months after a 3 hour vomiting episode, it was really scary. We knew back then that it could be fatal if not managed in crisis, so every crisis was sheer panic.
Please tell us about your support group for CAH and your activities regarding it?
Our support group started in Bangalore first, but we did name it CAH Support India. We set up a closed Facebook group for parents. That is yet to grow bigger. The problem is that parents still prefer to share their stories and ask for information on support groups in the US, simply because groups there have many more members so they feel reassured by that. What they do not see is that discussions on those groups are not relevant to India. Blood test level readings are different, medication is different, situations are different. This is a sad fact in India. The wonderful thing is that the very same Magic Foundation in US, which was my Resource 8 years ago to learn about CAH, and the very same Magic Foundation which is a large Facebook group where many Indian parents prefer to post their stories, has kindly offered us the opportunity to spearhead The Magic Foundation India, looking at support and awareness for many children’s growth disorders. With the establishment of this Trust, we have changed our Facebook group to The Magic Foundation India. The website will also change in a few months to www.magicfoundation-india.org and will cover more disorders. Wonderful Paediatric Endocrinologists in India are fully supporting us and we look forward to establishing India relevant Resources for each condition, setting up parent meet ups, improving the necessity of mandatory new born screening, reaching rural areas and more in the next few years.
Other than the website, how else do you try to create awareness?
The blog page on Facebook called Omkar’s Journey with Congenital Adrenal Hyperplasia was started as just stories around situations in the life of a child with CAH. It was a proud moment when twice the page was tagged across the world as a Resource for information about CAH. We had many articles done to improve awareness. Now with the establishment of The Magic Foundation India, backed by this renowned organisation which is known as a major player for Endocrine patient support, we will have the power to do greater work and bring about greater change for India. We only hope that Indian parents, who shy away from sharing their stories for change and who are cautious about committing to help, are inspired by us to share more and join hands with us for greater change.
What has been the response like?
As I said before, the saddest part is watching parents share more on a space outside India, and not sharing enough on an Indian space. Thus I would say, response has not been as good as we hoped. But, we hope that this changes with time, as we start to do more, that response is greater and things start to change. In order for us to do greater work, we need more people with selfless dedication and tireless commitment to come together. It takes a team.
How do you want to take it forward?
Some destiny has taken us so far. We have gone with the flow. We haven’t become disheartened by the lack of response. It has not stopped us from doing more. We have already taken it forward with the official affiliation to Magic US, and we have a plan. Once we set up the website for all the other disorders, we want to collaborate with the country’s great Paediatric Endocrinologists to develop Resources which are India relevant. We also hope that we can write a book which is India relevant, supported by these doctors. We know that some of these committed stellar doctors are going to help us build something very big for children’s growth disorders in India.
Any message for other parents who have children suffering from CAH?
As a parent, first educate and empower yourself with knowledge. Really that goes beyond anything else. Allow yourself to experience your emotions in the beginning, whatever they are, be it denial, anger or frustration. It is beyond all of this, that acceptance lies. Never ever blame yourself and never get upset by anyone who might blame you. There is no blame on anyone. Allow your child to live as normally as the child next door, but know that your child can have crisis and emergency, and be one step ahead all the time. And know that India now has a support system for you. Please reach out, and we are always there to guide and support you in every way possible!
