Suchismita Haldar is a full time caregiving mom to her 3 year old son who was diagnosed with Alagille Syndrome at birth. She talks about her journey as well as the awareness campaign she conducts.
At what age was your son diagnosed with Alagille Syndrome? What were the symptoms?
My son was diagnosed with a critical congenital heart defect 2 days after he was born. He had pulmonary atresia with no native PA (pulmonary artery) and MAPCA (major aorto pulmonary collateral arteries) dependent circulation. At that point doctors had told us that immediate surgery is not possible and they can decide on the right treatment plan only after he is 3months old. Few days after we brought Ethan home, he started showing signs of jaundice. His eyes were yellow, the skin had a yellow tinge and his urine was very yellow. The pediatrician we were consulting then kept telling us it was just neonatal jaundice and I should give him phototherapy at least 3 times a day for 5 mins each.
Even during his ER visits (which was twice in his first month) or a brief hospital stay at 1 month, nobody mentioned anything about the baby being yellow. Finally we went to Bangalore when he was 3 months and that's when we got to know that Ethan's heart defect is so complex that a corrective surgery won't be possible.
We came back home heartbroken. But it also dawned on us that his heart condition was so critical that doctors didn't even think his yellow colour is worth a mention. But as parents we were not ready to give up. We changed our pediatrician and explained his condition as well as our concern regarding his liver. He ordered a liver function test. When we got the reports we were shocked ...every parameter was way out of range. Every data was rechecked twice by the lab which did the test. We were referred to a gastroenterologist who took a first look at Ethan and said that he might have a genetic disorder called Alagille Syndrome. He had all the facial markers, though we do not notice them. Facial markers are usually a pointed chin and a bulging forehead which the gastroenterologist said were very prominent in Ethan’s case. But for us his face seems normal. We got his genetic mapping done and yes, Ethan did have Alagille syndrome. As soon as we started his medication as prescribed by his gastroenterologist, Ethan's yellow colour was gone. It seemed like he was a lot more calm, happy and playful. So we only got the right diagnosis when Ethan was 3 months old.
You have spoken about pre-natal screenings for congenital heart defects. Did you go through with any? If not, why?
I did have the routine ultra sounds and anomaly scan at around 20 weeks. However fetal echo is more specialized ultra sound with helps detect heart anomalies more efficiently.
I first came across the term Fetal echocardiography while filling in a form to book my 20 week anomaly scan (the 2nd routine ultrasound done around 20 weeks of pregnancy to evaluate the anatomical structures of the fetus, placenta and pelvic organs). At the very end of my form it was written that anomaly scan cannot detect cardiac anomalies or any problem in the baby's circulatory system. I immediately turned to my prescription. It said anomaly scan, nothing about any echocardiograph. I reasoned that, since neither of us have any family history of congenital heart problems maybe my gynaecologist didn't prescribe it. Or maybe she wants to see my anomaly scan and if she feels that a fetal echocardiography is required she will ask me to get it then. My anomaly scan went great though we had to wait for sometime because fetus Ethan covered his face with his hand!
Next I hear about fetal echocardiography while waiting to get my 3 day old son admitted to the NICU of a renowned hospital with one of the best pediatric cardiology dept. The doctor in charge asked "why didn't you get a fetal echocardiography done?"... almost sounding as if it was my fault!
Ethan was born with a congenital heart defect which is so critical that there is no surgical cure. I had an uneventful pregnancy with all normal scans other than the fact I developed gestational diabetes (which was under control with diet and 30 mins walk daily). In these 2 years 10 months I have spoken to numerous moms during my visits to the pediatric cardiology OPD and various specialists and found out that fetal echocardiography is not mandatory....it depends on the gynaecologist. While I have met moms who had absolutely healthy kids so it didn't matter that they didn't get the fetal echo done, but I have also met moms who thought they have taken home healthy babies only to return to the hospital few days or few months or couple of years later with a sick baby only to find out that their baby has a congenital heart defect.
Is there any linkage between Alagille Syndrome and CHD?
YES!
Alagille Syndrome is caused by a mutation in the gene of a JAG1 gene (most commonly) or NOTCH gene. Both of these are important in the embryonic development. Therefore people with Alagille syndrome show a whole spectrum of varied symptoms. It can affect multiple organs like the heart, liver, kidneys, eyes, brain, bones etc. Though liver and heart are the most common. Also the severity of the disease varies… even between siblings. While one may have a mild form and may not realise he/she has it, the other may almost have a life threatening condition.
Please tell us about the main challenges your son faces, and how do you tackle them?
My son has a critical congenital heart defect which various doctors have told us is inoperable. He is under medical management. That is, he is given medications to manage the symptoms and routinely checked every 6 months. Small procedures may be done if need be (but nothing like that has happened yet). Because of his heart condition his blood oxygen saturation is in the range of 60-70%. He plays around the house but gets tired easily.
His liver is also affected. Alagille patients usually have fewer bile ducts or narrow ducts, leading to bile accumulation. So his liver function test results are usually off the chart. With liver problems comes itchiness and that can be really bad at times. Most often kids have to go for liver transplant. However, in Ethan's case, his heart condition prevents him from being on the list for liver transplant.
Growth is stunted. Weight gain is a challenge. He is much smaller than his peers. He has delayed development. He started walking at 2 years old age. He still can’t communicate verbally, he tries though and we family members usually understand what he is trying to say.
Recently he had red patches all over his body. After numerous doctor visits we found out that these are not related directly to the syndrome but a combination of side effects to medicine and sensitive skin due to liver problem.
What is the medical prognosis?
Prognosis is not good. We’re told to take him home and love him and take care of him till we can (that is till he survives). Nobody can say how long he can live this way. Though his present pediatric cardiologist is a very positive person and never talks this way.
His condition has been stable. It means that all test results are shockingly bad but it has remained the same way for almost 3 years now.
What is the kind of treatment that your son has to go through?
Its only medicines to keep his symptoms at bay and routine checkups.
How is he responding to it?
Like I said his condition has been stable. It means that all test results are shockingly bad but it has remained the same way for almost 3 years now. We just focus on his well being, to make sure he is happy and comfortable.
What does a typical day in your family look like for your son and for you?
A typical day starts with Ethan and I having our breakfast together. We are night owls and hence late risers. I feed him. He still hasn’t figured out how he can put the spoon in his mouth without dropping all the food on his clothes.
Then we usually do some activity like puzzle, looking at pictures, building blocks. He can identify all the colours, fruits, vegetables, parts of the body. We are still learning alphabets. But these are usually done through games and never structured. Ethan usually choses what he wants to do. Some days he wants to paint and paints the paper, floor and himself.
That is usually followed by bathtime. He has his lunch around 2pm. After he is done, he has a whole list of medicines to have. After I settle him for his afternoon nap I usually have my lunch. If Ethan allows me. I get to take a short nap with him.
Evening we have a small bowl of porridge and then we usually play. But we also like to go out. But Ethan does not like to walk on the pavement. So I usually carry him. Some days we go to the park or to the mall.
He usually has dinner and then some more playtime while I finish my dinner and cleaning up before we retire for the day.
Ethan and I are usually by ourselves with a house help whom Ethan likes a lot. My husband is posted elsewhere so he comes whenever possible. My parents and MIL live close by. So in case of any emergency we have all got each other.
Are you a part of any support group? Have support groups been of help?
Yes. I am part of 2 support groups.
- Justice for heart warriors in FB. It’s a parent led advocacy group for CHD kids. There are a few adults with CHD as well. But the group is not yet registered. We usually help each other, advise each other, give emotional support, everything that you can do online.
- Alagille Syndrome Alliance – an online community. They provide a lot of resource material to help understand the disease. ( https://www.facebook.com/ALGSAlliance?mibextid=ZbWKwL)
Being part of such groups means you find your tribe. A clan of people who knows exactly what you are going through. We can learn from each other. Ask for recommendations and advise. It has very positive effect on parents like us as the journey is pretty isolating.
I also read online (mainly papers published in scientific journals)
You have been speaking about Alagille syndrome in your personal posts. How and when did you start this, and why?
I finally had the strength or courage to post anything regarding my child's diagnosis when he was 1 year old. Slowly I started becoming more frank and open. My husband still doesn’t like talking about our son's condition and is hardly present in any social media platforms. But I felt sharing about Ethan was very liberating. I have nothing to hide and definitely don’t want people to pretend as if nothing has happened. Because we do have a condition to tackle and we are doing the best we can. If we cannot accept the situation and his diagnosis how can we expect others to accept it?
How have you emotionally coped with the situation? How have your friends and family supported you?
I think I could cope emotionally because I had a very strong family (my mom dad and brother) supporting me. I lived with them for 3 years after my son was born. My husband has also been rock solid. My friends have been kind and understanding. The initial days they were just willing to come over and wait till I was free to talk to them. While most relatives were nervous about how to react around us my friends came with gifts and a cake to celebrate baby Ethan's birth.
Any plans of taking this awareness drive to a bigger platform?
Yes! However right now Ethan is still dependent on me as far his daily activities go. He also has separation anxiety. So right now I am focusing on working online.
Your advice to parents in similar situation
Accept the diagnosis. Educate yourself. Then get up and look for your tribe.
Do not isolate yourself. Do not blame yourself.
The change you would like to see in the healthcare system
- Fetal echo being done more often. CHD can appear as an isolated case as well due to other genetic conditions. So determining whether the fetal heart is healthy is very important. Further investigation can be done once any anomaly is found. If we do have a test which better our chances of finding the most common congenital defect then it should be included as a routine test during pregnancy.
- Proper screening should be done after birth.
- Rare disease units need to be established. Ethan has 3 different specialists in 3 different corners of the city.
- Financial policy has to be there for the families. Proper utilisation has to be ensured and monitored.
- Parents should at least have one counselling session after the diagnosis to help them understand and accept the situation.
Is there anything you want to share about your campaign?
Congenital heart defects (CHDs) are conditions that are present at birth and can affect the structure of a baby’s heart and the way it works. They are the most common type of birth defects.
Around 9 out of 1000 children are born with CHDs in India with a total of almost 20,000 babies per year. For a congenital defect that is so common, people are hardly aware of it. I started a campaign called ‘Ethan and mommy’s congenital heart awareness campaign’, the objective of which is to talk about congenital heart defects and prenatal screenings which help detect such defects. Also, some critical CHD cases end up with a lot of disabilities. Yet CHD is not included in the list of Persons with Disabilities Act 2016.
I also run a page whereby I share the stories of primary care givers of kids having special needs (be it developmental, genetic or congenital). Link to my page - https://www.facebook.com/iseeumommy?mibextid=ZbWKwL
