Stories about: Diseases & Conditions

Bouncing back from a colorectal malformation: Reagan’s story

care for perineal fistula

It’s a situation few parents ever imagine during a healthy pregnancy. Yet there Laura and Jared Maxwell were, waiting anxiously in the Division of Genetics and Genomics at Boston Children’s Hospital as their infant daughter, Reagan, under went a barrage of tests. After their little girl had been born with a congenital anomaly just a few weeks earlier, physicians wanted to make sure that she didn’t have other related genetic syndromes that could affect her heart, kidneys and other organs. “It was one of the most terrifying days of my life,” recalls Laura.

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‘One size fits all is not our norm.’

Mother embraces teen son with autism

The other day, I sat in a café and watched as a mom walked in with two kids in tow. I didn’t notice much while sipping my coffee, but soon the family’s conversation broke my train of thought. The girl, maybe 4, was talking to the waitress about the menu. She wanted extra bacon and a muffin with no nuts because of her allergies. She knew her limitation and could express what she needed.

I was happy for the girl and her mom, and at the same time I couldn’t stop thinking about the kids like my son, Anand, who can’t have those types of conversations. And I thought about the families like mine who care for them. Walking into a café would be such a huge struggle for many of us — the anxiety around crowds and the fear of a meltdown for unknown reasons prevents us from even thinking about going out for breakfast.

We all want the world for our children, but sometimes just surviving becomes our day-to-day life.

But yet, I marvel at human nature.

When my son was born, I experienced immediate joy and sometime later came anger, frustration, sadness and denial. For many parents of children with autism or other special needs, parenting is challenging right from the start. For others, they face challenges more gradually.

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Surviving the unknown: How Type 3 von Willebrand disease made Vasudha’s family stronger than ever

A picture of Vasudha, a kindergartner with Type 3 von Willebrand disease
A recent photo of Vasudha, who is currently in kindergarten.

As soon as Madhu and Sugastha’s daughter, Vasudha, was born, a nurse performed a routine blood prick to check the baby’s glucose levels. Since Sugastha had developed gestational diabetes during her pregnancy, the test was making sure that her newborn daughter’s blood sugar was within a healthy range.

“But then, that little spot on her toe didn’t stop bleeding for more than a day,” Madhu recalls. “The nurses chalked it up to the fact that she was a little baby, kicking her feet around, and that’s why the bleeding wouldn’t let up.”

It was just the beginning of mysterious bleeding events though. Over the first year of Vasudha’s life, her parents noticed strange instances of prolonged bleeding that resulted from small scrapes. When she was 8 months old, they grew concerned when bruises began appearing all over Vasudha’s body for seemingly no reason. Their elder son, Saketh, had never experienced any of this when he was a baby.

“We went to our pediatrician and he told us about the possibility of von Willebrand disease,” Madhu says. “Up until this point, I had heard about hemophilia but didn’t have any other knowledge about bleeding disorders.”

Von Willebrand disease is the most common inherited bleeding disorder — as many as 1 in 1000 babies are born with it — and it affects the body’s blood clotting process. There are several types of the disease; they are known as Types 1 through 3, with Type 3 being the rarest and most severe form of the condition.

“Our pediatrician ordered a blood panel test for Vasudha,” Madhu says. “He called us with the results and said that it was the worst-case scenario, Type 3 von Willebrand disease.”

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It’s Autism Awareness Month: Get the facts

A girl with autism smiles for the camera.April is Autism Awareness Month and you may have noticed there’s a lot in the news about autism. Several TV shows now feature lead characters with autism (Atypical, The Good Doctor and Big Bang Theory, among others). Even Sesame Street has a character, Julia, who has autism. More and more children — up to one out of 68 — are being diagnosed with autism. But what exactly is this condition, how does it affect children and what can you do to help?

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