Extreme Mothering: When A Child Has A Relentless Disease

Kate and her children Jake and Brook, who has the fatal genetic disorder Tay-Sachs disease. (Mary White Photography)

Kate and her children Jake and Brook, who has the fatal genetic disorder Tay-Sachs disease. (Mary White Photography)

By Dr. Annie Brewster
Guest Contributor

In 2010, Kate, a single mom from Derry, New Hampshire, gave birth to Brook, a healthy baby girl.

Brook seemed to be developing normally and reaching all of her milestones — learning how to sit up and roll over, grasping at toys — until she was 6 months of age, at which point she started to regress. She lost skills she had already learned, and gradually Kate noticed other things. Brook didn’t respond to her name, she would fixate on her hands and just stare and stare; she started dropping toys, unable to hold onto one in each hand at the same time. Eventually, after a long medical work up, Brook was diagnosed with Tay-Sachs disease in 2012, and Kate was told that her daughter would most likely not live past her third birthday.

Today, Brook, is two-and-a-half years old and requires constant care. She is blind. She cannot swallow and is fed through a feeding tube. She is having constant seizures. And she continues to deteriorate. Brook’s older brother Jake, born to a different father and now 9 years old does not suffer from the disorder, but may be a carrier. This will remain unknown until genetic testing is done when he is a little older.

(Listen to the audio on the right to hear Kate’s story of living with and caring for her terminally ill daughter.)

Tay-Sachs is a fatal genetic disorder. A child is born with Tay-Sachs when he or she inherits two damaged copies of the HEXA gene on chromosome 15 (one from each parent), which results in a deficiency of the Hexosaminidase A enzyme and the subsequent build up of a damaging fatty substance in brain cells. The result is a relentless, progressive loss of physical and mental functioning and eventually, death. A person with one damaged gene and one normal gene will become a carrier with no clinical symptoms of the disease. If two carriers have children together, there is a 25% chance of giving birth to an affected child with each pregnancy.

Tay-Sachs, a rare disease with an incidence of approximately 1 in 320,000 in the general population, occurs with increased frequency in certain populations, including Ashkenazi Jews, French Canadians, and Cajuns (from Louisiana). In these groups, approximately 1 in 30 individuals is a carrier, and 1 in 3,500 children will be born with the disease.

Kate, who is of French Canadian descent, underwent no genetic testing and had no idea she was a carrier before Brook’s diagnosis. She knew nothing about Tay Sachs, and was unaware that French Canadians are at increased risk.

How does a mother manage life when her child is dying? She mothers. Kate spends most of every day in her living room with Brook, an oxygen machine hissing in the background, surrounded by pill bottles, suctioning her daughter’s secretions, moistening her lips, and giving her medication to temper her seizures. Kate’s primary goal is to keep Brook as comfortable as possible in her last days, and she works very hard to achieve this. “So many people for so long would say, ‘You’re so amazing, I don’t know how you do this; This is incredible, how do you manage this,’” Kate says. “I would look at them and think, ‘This is my daughter, how can I not do this?’” And every day she tries to spend as much time as possible with her older son, Jake, and to support him through the impending loss of his sister the best she can.

This project was completed in collaboration with Blyth Lord, founder of the Courageous Parents Network, a non-profit whose mission it is to empower parents caring for children with life-limiting illness, and Bill Parker, founder of Hindsight Media.

Dr. Annie Brewster, author and audio producer, is a Boston internist and founder of Health Story Collaborative, a non-profit organization dedicated to harnessing the healing power of stories. You can hear and read more of her stories here, here and here, as part of our Listening To Patients series.

The Surprising Risk Of Swaddling Your Baby: Hip Troubles

Who knew swaddling your baby could be so risky? I loved swaddling my daughters, and they seemed to calm instantly as I tucked them up in soft flannel cloth, feeling (I imagined) safe, contained and protected.

But, like so many aspects of child-rearing, one wrong move can produce a major screwup. In this case, according to new research published in the journal Archives of Disease In Childhood, improper swaddling can lead to hip dysplasia. (The key to safe swaddling, experts say, is to allow the baby’s legs to bend, rather than wrapping them up with their legs tightly extended and pressed together.)

Infant swaddling has, historically, been a near-universal practice, researchers report, and in recent years it’s enjoyed a popular “resurgence.” Why? Because it genuinely appears to calm kids down with “its perceived palliative effect on excessive crying, colic and promoting sleep,” researchers write. “Approximately 90% of infants in North America are swaddled in the first few months of life.”



While the report found that swaddling did, indeed calm infants, it didn’t help much with colic.

WBUR and NPR’s Here & Now explored the topic today, quoting the study’s lead author — Nicholas Clarke, a consultant orthopaedic surgeon at the Southampton University hospital in the U.K. — on how best to swaddle a baby:

‘Safe swaddling’ with appropriate devices should be promoted because it is recognised that traditional swaddling is a risk factor for DDH [developmental dysplasia of the hip]. In order to allow for healthy hip development, legs should be able to bend up and out at the hips. This position allows for natural development of the hip joints. The babies’ legs should not be tightly wrapped in extension and pressed together. Commercial products for swaddling should have a loose pouch or sack for the babies’ legs and feet, allowing plenty of hip movement and hip flexion and abduction.

Has Prescribing Psychotropic Drugs To Kids Peaked?

Are doctors starting to ease off on prescribing psychotropic drugs to young kids?

This seems to be the conclusion of a new study published in the journal of Pediatrics this week. The study’s design was relatively simple: gather data on 2-to 5-year-olds from national health surveys, and see what trends emerge. The findings? While behavioral diagnoses in young children have increased over the past two decades, prescriptions for psychotropic medications have been cut in half.

(Southworth Sailor/flickr)

(Southworth Sailor/flickr)

Why was there a prescription peak that has now stabilized, and what could explain the drop? I contacted Dr. Tanya Froehlich, a contributing author of the study and associate professor at the University of Cincinnati Department of Pediatrics, to shed some light on this phenomenon. She responded via email.

Dr. Froehlich attributed the decline to two major factors: regulatory controls and increasingly cautious doctors. Specifically, she said, decreasing prescription rates “may be due to physician and public concern about these medications spurred by a number of FDA advisories issued in the mid- to late 2000’s, including the black box warnings on selective serotonin reuptake inhibitors (SSRI) and atomoxetine, and other advisories regarding psychostimulant-associated side effects.” Continue reading

Dangerous Play: More Kids Ingesting Magnets, Rushed To ER

Years ago, a relaxing family vacation with friends in the Berkshires was cut short by a medical emergency involving the host’s 6-year-old son and a couple of powerful magnets.  The problem? The kid blithely placed a magnet in each nostril and couldn’t remove them. A bloody nose, forceps and a frantic trip to the local emergency room followed.

The child, it turns out, is far from unique.

According to a new study, the number of children ingesting magnets, or stuffing them up their nasal passages (possibly a thwarted attempt to emulate nose-piercing) has soared: cases, amazingly, quintupled between 2002 and 2011. Not only that, this spike in magnet-related accidents is leading to more serious injuries that are more likely to involve emergency surgery, according to the report, just published online in the Annals of Emergency Medicine.

Researchers propose two possible theories driving the rapid rise in cases:

1. Smaller, stronger magnets have become more widely available (and not only in kids’ toys; it’s also those addictive Buckyballs, marketed for grownups).
2. Powerful and cool-looking magnets are being used, mostly by older children to “imitate nose, tongue, lip, or cheek piercings,” the study says.

To find out more, I contacted one of the study authors, Dr. Julie C. Brown, with the department of pediatrics at the University of Washington in Seattle. Here, lightly edited is her very thorough response via email:

jar (away for a while)/flickr

jar(away for a while)/flickr

Q: What might be driving the increase in these pediatric magnet emergencies?

A: Small, powerful magnets are increasingly ubiquitous, in numerous household objects. Rare earth magnets have only been widely available and affordable since a little after 2000, and have had increasing use since. Many companies marketed rod and ball construction sets to children around 2005, and there were a number of ingestions related to a flawed Magnetix product around that time, including a Kirkland boy who died in 2005. There have been other flawed toys around that time as well. In recent years, however, it appears that the increase is due more to products not marketed as toys. They are sold with metallic bulletin boards, as fridge magnets, as jewelry, as novelty items. Continue reading

Tale Of The Pediatrician Snatched To Treat The Kennedy Baby

The Kennedy family plot in Holyhood Cemetery in Brookline, on Nov. 23, 1963. The headstone marks grave of Patrick Bouvier Kennedy, third child of the slain president, who died in August at less than 2 days old. (Frank C. Curtin/AP)

The Kennedy family plot in Holyhood Cemetery in Brookline, on Nov. 23, 1963. The headstone marks grave of Patrick Bouvier Kennedy, third child of the slain president, who died at less than 2 days old, with respiratory distress. (Frank C. Curtin/AP)

Fifty years ago this week, Patrick Bouvier Kennedy, the president and first lady’s baby who was born five-and-a-half weeks premature, died while doctors at Boston Children’s Hospital tried to save him. Last week, The New York Times took a look back and recounted the medical drama with rich detail.

But apparently, according to the son of one of the doctors involved in baby Kennedy’s care (and a very distant, non-blood relative of mine), not all of the details were completely right.

The small bit of misinformation involves the moment when Dr. Samuel Levine, a pioneering New York pediatrician and professor at Cornell University Medical College, was snatched from Manhattan and flown to Boston to help treat the ailing infant, according to the doctor’s son, Ted Levine. Here’s what the Times wrote:

Pierre Salinger, the White House press secretary, conveyed a message from Mrs. Kennedy’s sister, Lee Radziwill, who urged the president to send for Dr. Samuel Z. Levine, a prominent Manhattan pediatrician who had cared for her own premature baby. Secret Service agents located him strolling in Central Park and whisked the startled physician to Boston.

Not true, says Ted, the 86-year-old son of Samuel, who was an expert in the field of pediatric nutrition. Continue reading

Breastfeeding May Lower Risk Of ADHD, Study Finds

To the long list of health woes breastfeeding might protect your child against, add this one: attention deficit hyperactivity disorder.

vintagebreastfeedingResearchers from Israel report that breastfed children may have a lower risk of developing ADHD, one of the most common neuro-behavioral disorders of childhood.

UPI covered the study, published online earlier this year and just out in the journal Breastfeeding Medicine:

Dr. Aviva Mimouni-Bloch of Tel Aviv University’s Sackler Faculty of Medicine and Loewenstein Hospital and colleagues completed a retrospective study on the breastfeeding habits of parents of three groups of children: a group that had been diagnosed with ADHD; siblings of those diagnosed with ADHD; and a control group of children without ADHD and lacking any genetic ties.

The study…found a clear link between rates of breastfeeding and the likelihood of developing ADHD, even when typical risk factors were taken into consideration.

Children who were bottle-fed at 3 months were found to be three times more likely to have ADHD than those who were breastfed during the same period, the study said. Continue reading

Childhood Obesity Plummets In Boston Region — But Why?


It’s a mystery, but the best kind: How do we explain this good news?

David Scharfenberg, WBUR’s new online politics and policy reporter (think Politico meets Wonkblog), posts the heartening and mystifying story here. It notes that public health efforts to stem childhood obesity are bearing fruit around the country, “but the most dramatic — and, perhaps, least scrutable — results are in eastern Massachusetts.

Researchers out of Harvard University’s Obesity Prevention Program and the Centers for Disease Control and Prevention found a 21.4 percent drop in obesity rates in the region between 2004 and 2008 for children ages 6 and under.”

What gives? Is all the jicama kicking in? David writes:

There are some theories. Factors like reduced maternal smoking during pregnancy and increased breastfeeding might account for the steep drop here and similar, though far less dramatic, results nationwide.

Matthew Gillman, a professor of population medicine at Harvard Medical School and co-author of the study, adds that the media drumbeat on childhood obesity might have reached some sort of tipping point in the mid-2000s — shifting the behavior of parents of young children here and beyond. Continue reading

Kaboom Nation: Enjoy The Fireworks But Beware — Especially Boys



Everyone loves fireworks, and I hate to be a whiner, but parents should be mindful as we enter into high-pyrotechnics season. Apparently, parents of school-age boys should be most wary, based on statistics from Boston Children’s Hospital:

–Approximately 58 percent of all fireworks-related injuries are burns that usually occur to the hands, head, and eyes. The majority of fireworks-related injuries (75 percent) occur during July 4 celebrations.

–Boys, especially between the ages 10 and 14, are at the highest risk of fireworks-related injuries. Children ages 4 and under are at the highest risk for sparkler-related injuries.

–The most common causes of product-related thermal burn injuries among children ages 14 and under are hair curlers, curling irons, room heaters, ovens and ranges, irons, gasoline, and fireworks.

Indeed, according to a study of fireworks-related injuries in children 19 and under from 1990-2003, published in the medical journal Pediatrics, the demographic most at-risk is a 10-year-old biy:

An estimated 85,800 pediatric fireworks-related injuries were treated in US emergency departments during the 14-year study period. Injured children had a mean age of 10.8 years, and 77.9% were male.

Fireworks users accounted for 49.5% of the injuries, whereas 22.2% of the injuries were to bystanders; however, user status could not be determined in 28.3% of cases.

The overall fireworks-related injury rate decreased significantly during the study period, but subgroup analysis did not indicate consistent declines among all ages and types of fireworks.

Injuries were most commonly caused by firecrackers (29.6%), sparklers/novelty devices (20.5%), and aerial devices (17.6%). The most commonly injured body sites were the eyeball (20.8%), face (20.0%), and hands (19.8%), and the most common injury type was burns (60.3%). Approximately 91.6% of all children with fireworks-related injuries were treated and released from hospital emergency departments, 5.3% were admitted, and 2.3% were transferred to another institution. Bystanders accounted for 13.3% of admitted cases and 20.6% of transferred cases.

CONCLUSIONS. Consumer fireworks cause serious preventable injuries among pediatric fireworks users and bystanders in the United States. Parents should be advised to take their children to safer public fireworks displays rather than allowing consumer fireworks to be used by or near their children. A national restriction of consumer fireworks, in accordance with the policy recommendations of the American Academy of Pediatrics, should be implemented to reduce the burden of fireworks-related injuries among children.

With that in mind, Happy Independence Day!

New Video Explains How Adults Can Lessen ‘Toxic Stress’ In Kids

Almost one in four American children are living in poverty, according to a new report by the Annie E. Casey Foundation. The long-term consequences of childhood poverty are bleak to say the least, but the report has a clear-cut policy recommendation to address this issue: invest in interventions that focus on early childhood development.

This policy direction strikes a chord with President Obama, whose most recent State of the Union address focused in part on early childhood education and its importance in setting the stage for a successful adult life.

And it fits perfectly with the spiffy new five-minute video above, narrated by Dr. Jack P. Shonkoff, director of the Harvard Center on the Developing Child.

From molecular biology to behavioral science, Dr. Shonkoff and teams of researchers have drawn from numerous scientific studies as they probed the issue of how a child’s early experiences are predictors of later life realities.

Their findings have led to a hypothesis that’s pointing a way forward in early childhood development research and policy directions. The hypothesis – or what Dr. Shonkoff calls a “theory of change” – is that to help a child’s life turn out better, considerable focus must be placed on building the capacities of the adults that are responsible for shaping children’s home environments and communities.

The theory is based on well-documented brain science indicating that neural circuitry begins developing from day one of a child’s life and the external conditions a child confronts have a profound impact on this process. Continue reading

Silence As Kids’ Psych Beds Cut; What If Cancer Or Burn Beds?

The CDC has just released a report on the prevalence of mental illness among American children. It notes: “A total of 13%–20% of children living in the United States experience a mental disorder in a given year, and surveillance during 1994–2011 has shown the prevalence of these conditions to be increasing.”

Yet as that prevalence increases, treatment options are decreasing, writes Lisa Lambert, executive director of the Parent/Professional Advocacy League, which advocates for Massachusetts families with mentally ill children. Below, she discusses one particular pending loss, of Cambridge Hospital children’s psychiatric beds long especially valued by families. The hospital announced last month that it would consolidate two units with 27 beds into just one with 16 beds. It cited tight budgets, declining utilization and cyclical demand. The details are still in play.

By Lisa Lambert
Guest contributor

When Aiden was seven, it seemed like he would never be safe.

At home and in his second-grade classroom, he repeatedly talked about killing himself. He barely slept, raced from one spot to another and threatened to harm his younger sister. His parents stayed glued to his side, barely taking time to eat, shower or sleep.

One day, his mother caught him lighting a fire in his bedroom. Aiden ended up in the emergency room, and later in a bed in Cambridge Hospital. The staff had seen young patients like him before and they knew what treatment would work and what kind of follow-up care a seven-year-old needs. Without that hospital stay, his mother says, ”We don’t know where our family would be.”

Lisa Lambert of PPAL (Courtesy)

Lisa Lambert of PPAL (Courtesy)

No one likes the idea of admitting a young child to an inpatient psychiatric program. It is a last resort, something to be avoided at all costs. Parents will tell you, however, that when they’ve exhausted all the options, Cambridge Hospital has provided the best possible care. Now, it seems that a major piece of that care is coming to a close, unless a miracle happens.

Last week, the Department of Public Health held a hearing to receive comments about closing the Cambridge Hospital child psychiatric unit and eliminating beds. Nurses stood shoulder to shoulder to tell stories of families they’ve helped and of their pride in the wonderful care they’ve given. Parents came to say that this place was a lifesaver and without it, their children would never have improved.

The Child Assessment Unit is one of a kind, they all said, where parents can visit anytime and even stay overnight. Since PPAL is a grassroots organization, we surveyed families about this and want their voices to be part of the public conversation. Continue reading