Tag Archives: rare genetic diseases

book reviews

Repost: A review of Salty Baby, by Orla Tinsley… 

Somehow, I never got around to reposting this review of the book, Salty Baby. This review was originally written and posted in December 2013, and reappears here as/is. I remember that this book was recommended to me by one of my Irish readers. Thanks again for that, Enie!

A couple of weeks ago, a visitor to this blog from Ireland alerted me to Orla Tinsley’s 2010 book, Salty Baby.  Orla Tinsley was born in March 1987 and has cystic fibrosis, which was discovered three days after her birth.  I was interested in her story because I have read several books on CF and because it offered a perspective of how people handle this devastating genetic disease in countries other than the United States.  The title of Tinsley’s book, Salty Baby, refers to the unusually high concentration of salt people with CF have in their bodies.

Tinsley’s writing career seems to have started with a stroke of luck.  In Ireland, patients in hospitals are often kept in wards.  It was not unusual for Orla to be sharing a room with five other people.  One time, she happened to be sharing a room with a woman whose daughter was a reporter for the Irish Times.  Tinsley ended up writing several articles about CF for the Irish Times, particularly about the sorry state of hospitals for adults with cystic fibrosis. 

This book is also a coming of age story.  Tinsley writes about what it was like to grow up with CF among healthy Irish kids, some of whom called her “germ girl”.  She was interested in music, poetry, writing, and drama and was often involved in theatrical productions, despite being sick with CF.  I’ve often heard it said that kids with CF are kind of “special” in that they tend to be remarkably mature and “good”.  I definitely got that sense about Orla Tinsely, who bravely seemed to want to wring everything out of living as she could, even as she saw some of her friends dying of the same disease she was born with.

Tinsley had grown up going to a children’s hospital, where her illness was taken very seriously and nurses took pains to help her and other patients avoid cross-contamination.  She got her medications on time and the staff was very proactive in the care they delivered.  Once she graduated to the adult hospital, she discovered a whole new and terrifying world… where there weren’t enough beds to keep CF patients from mingling with each other.  Orla saw people die before their time, mainly owing to the poor conditions in the hospitals.

In a way, cystic fibrosis seems to have given Orla Tinsley a calling.  She became an activist in Ireland, working hard to improve the sub-par conditions in hospitals for CF patients.  While she doesn’t really explain everything that CF does to the body or even what it did to her body, she does explain that people who have cystic fibrosis must be very careful about not coming into contact with bugs, particularly if they come from another CF patient.  She writes of how hygiene standards were not as strict at the hospital for adults.  One time, she saw a male nurse preparing a needle with a tray that had blood on it.  She spoke up, which annoyed him… and probably spared her a serious setback in her illness.

Tinsley also goes a bit into sexuality with this book.  She realizes that she has romantic feelings for women and writes that she might be a lesbian.  And she also writes about her flirtation with eating disorders.  Although it was always my understanding that it’s very difficult for CF patients to keep weight on, Orla apparently was heavier than many patients are.  On a trip to Rome, she ran into an Italian man talking to a couple of ballerinas from Ireland, who were very thin.  When the Italian guy realized Orla was also from Ireland, he was surprised because she wasn’t as thin.  She didn’t realize that many Italian men apparently like “curvy” women (it’s my experience that they just plain like women). 

Orla writes that she had to talk to psychiatrists about her eating “problems”, that she claims she didn’t really have.  But then she writes about being very body and image conscious.  I would imagine with a disease like CF, it must be especially difficult growing up and dealing with body image issues.  Because she has had to have so many IVs in her lifetime, her veins are all pretty much shot.  So she’s had to have picc lines and port-a-caths installed in her body and she writes a bit about what that was like, too.  Due to her CF, she also has diabetes, and she writes about some of the special issues that have come up because of that.  She once got busted in the library for eating a banana and using her cell phone, which apparently results in a 10 euro fine.   

I mostly enjoyed reading Orla Tinsley’s book, Salty Baby.  She is an engaging writer who has a lot to say and comes across as very personable and intelligent.  The one thing I did notice about this book is that it’s a bit long and detailed.  There were times when I thought it could have been edited and streamlined a bit to make it a bit less cumbersome to read.  But overall, I was mostly just very impressed by Orla Tinsley and all she’s done to make CF care better in Ireland.  I would definitely recommend this book to anyone interested in learning about cystic fibrosis, particularly as it’s treated in Ireland.

Here’s an article Orla Tinsley wrote for the Irish Times in June 2013…  She also has a blog that hasn’t been updated since 2014.

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book reviews, healthcare

Repost: The Power of Two: A Twin Triumph over Cystic Fibrosis

I am reposting this review, originally written for Epinions.com in 2010, as/is, since I mentioned this book in my review of Roy E. Ice’s book about his wife’s experiences with cystic fibrosis. Sadly, Anabel Stenzel died in 2013. Isabel Stenzel Byrnes is still living in San Francisco, California.

Like a lot of Americans, I’ve been keeping up with America’s Got Talent this summer. I had previously gotten hooked on NBC’s talent contest three years ago, but had missed it over the two years my husband Bill and I spent in Germany. I was eager to see what kinds of people would be showing off their talents, or lack thereof. This year, Christina and Ali, two singing sisters from Idaho Falls, Idaho, performed for America and shared that they were two of four siblings who suffer from the genetic disease, cystic fibrosis (CF). Cystic fibrosis is a devastating illness that affects all facets of life, from breathing to digesting food to eliminating waste. Christina and Ali had been told they would never be able to sing, since CF damages the lungs of those who suffer from it. But sing they did, and while I have heard better singers, the fact that they were able to perform as well as they did was astonishing to me.

I mentioned Christina and Ali on a messageboard I frequent, also mentioning that I had also read Frank Deford’s incredibly touching book Alex: The Life of a Child. Deford’s daughter, Alexandra, had died of CF in 1980 at age 8. She was almost a year older than me and I found her story very moving. One of the posters on the messageboard then recommended that I read The Power of Two: A Twin Triumph over Cystic Fibrosis (2007). Written by twins Isabel Stenzel Byrnes and Anabel Stenzel, the book offered a more recent account of living with CF. Now that I have finished the book, I can say that I was richly rewarded by the experience.

Isa and Ana

Like Alexandra Deford and me, Isabel (Isa) and Anabel (Ana) Stenzel were children of the 1970s. The twins were born in January 1972 in Hollywood, California to a Japanese mother and a German father and an older brother named Ryuta. It’s hard to imagine it, but those were the days before ultrasounds and genetic tests. Hatsuko and Reiner Stenzel didn’t even know they were having twins. Reiner Stenzel was a world-reknowned physicist and was out of town when his wife went into labor. She gave birth alone.

Days later, Ana had not yet passed her first meconium and required surgery to unblock her intestines. A doctor realized that meconium ileus was a sign of cystic fibrosis. Although cystic fibrosis is extremely rare in Asians, the doctor ordered a “sweat test” for both girls. The sweat test measured the amount of sodium chloride (salt) in the girls’ sweat. Both tests came back with abnormally high levels of salt, which confirmed that the twins had cystic fibrosis. The doctor informed Reiner and Hatsuko Stenzel that their daughters had CF, ultimately a fatal disease that would probably claim their lives during early childhood.

Thirty-eight years later, both twins are still living and working in Palo Alto, California.  They are both graduates of Stanford University and the University of California, Berkeley.  One twin is married. Both have satisfying careers, one as a genetic counselor and the other as a social worker. Both have traveled extensively and both have had lung transplants that later allowed them to compete in the Transplant Games. Together, they beat the long odds that were stacked against them at birth.

My thoughts

I think this is an amazing book on many different levels. First off, The Power of Two appeals to me because I’m about six months younger than the twins are. Isa and Ana take turns writing chapters and they start at the very beginning of their lives. Although I don’t have CF, I am a child of the 70s and 80s, so I understood a lot of the cultural references they made and felt like I could relate to them as peers.

I was fascinated by the story of how their parents, two immigrants who came from very different places, met in America and became a couple. Both Hatsuko and Reiner Stenzel were very much affected by the horrors of World War II. They left their homelands for something better in the United States and ended up getting married. The odds that they would both carry the defective gene for cystic fibrosis were very slim. CF is almost unheard of in Asians. When the twins’ mother, Hatsuko, called her own mother in Tokyo to enquire about her heritage, she was assured that the defective gene must have come from her father, who had died in Siberia as a prisoner. Somewhere along the line, Hatsuko’s father must have had a Caucasian relative.

Twins are fascinating to read about anyway, since they often have their own languages and ability to relate to each other. Isa and Ana were very close to each other for another reason; they relied on each other for the vital percussive therapy that allowed them to keep their lungs clear of the deadly mucous that collects in the lungs of CF patients.

And, as it turns out, Isabel Stenzel and I have something in common. We both earned dual master’s degrees in social work and public health. And while I am not primarily of German descent, I did just spend two years living in the twins’ father’s homeland.

Isabel and Anabel are excellent writers. They don’t hold back as they describe what it’s like to have cystic fibrosis. They very honestly convey the frustration they felt at always being sick, yet they also strived to not allow their illness to hold them back from chasing their dreams. I found myself marveling at all they were able to do as youngsters. I also admired how much they value their lives, even as they admitted to how much suffering they endured due to their disease.

I will warn that those with delicate sensibilities regarding language may not like that the twins liberally use profanity. Personally, I thought the profanity was certainly justified, given their situation. It also gave their voices a touch of realism and made them seem very human. But if swearing offends you, be advised that they don’t hold back at all. They also include some frank discussion about sex. Again, I liked this aspect of the book, but realize that some readers might not appreciate it.

The Power of Two includes a photo section. One of the most riveting photos in this book is that of Isabel post lung transplant, saying goodbye to the scarred, diseased, terribly damaged lungs that had miraculously sustained her for over thirty years. These women had spent their lives watching their friends die of cystic fibrosis. They knew that having a transplant was also no guarantee that things would get better. People who have transplants must suppress their immune systems to prevent rejection of the new organ. They knew that they were trading one health problem for another and, in fact, had seen several friends with CF die after their lung transplants. And yet, their healthy new lungs did give them new lives, and allowed them the opportunity to educate others about this disease and give them hope.

Overall

I definitely recommend The Power of Two because it’s a fascinating story on so many levels. Certainly, it’s good reading for anyone whose life has been touched by cystic fibrosis. It’s also a good book for those who are interested in a story of how World War II impacted lives. And people who are twins may also like this book because of the insight these women give into their experiences as twins with CF.

This is a powerful, inspirational book. It gets five big stars from me.

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book reviews, healthcare

Repost: A review of Roy E. Ice’s Julie: The Courage To Breathe…

I wrote this book review for my original Overeducated Housewife blog on September 20, 2013. It appears here as/is.

As I mentioned in my last post, Epinions.com is going through some major changes right now that is going to make posting reviews, especially of self-published books, a big challenge.  I like to review every book I read and I have found that the self-published books are often pretty good.  They deserve to be reviewed.  Hell, I find myself buying them as often or more often than books that have been vetted by big publishers.

So anyway, I just finished Roy E. Ice’s self-published book, Julie: The Courage to Breathe.  This book, available in hardcover, paperback, and Kindle editions, was published in March of 2013.  I picked it up in June, when I had apparently gone on a tear buying books about cystic fibrosis.  Though I don’t personally know anyone with CF, I have done some reading about this devastating genetic disease.  A lot of advances have been made in the past decade or so in understanding and treating cystic fibrosis.  Still, it remains a deadly, demanding disease that often kills people when they are very young.

Roy Ice explains that he met his wife, Julie, when they were teenagers.  He fell in love with her, even though she had an annoying cough that she couldn’t seem to get rid of and seemed to get pneumonia very easily.  She thought she had asthma.  So did her doctors, even though when she was as young as five years old, she showed signs and symptoms of cystic fibrosis. 

Though Roy and Julie had met when they were in high school, it took a few more years before they dated.  Ice married Julie when they still young adults.  He’d done a stint in the military and served in Desert Storm/Desert Shield, then came home to Kentucky.  Julie still had that irritating cough that would erupt at the most inopportune times.  Roy would encourage Julie to stifle it because it often embarrassed him. 

One day, about eight months into their marriage, Julie got very sick.  Roy took his wife to the hospital, where a doctor tried to diagnose her yet again with pneumonia.  Roy doubted that was the case and demanded that a pulmonologist examine Julie, much to the dismay of the internist who had incorrectly assumed that Julie had pneumonia once again.  The lung specialist suspected cystic fibrosis and tested her.  At age 23, Julie had tested positive for CF.  At the time, most CF patients were dead before their 29th birthdays.

In a folksy, plainspoken way, with a generous smattering of humor, Ice writes about what it was like to find out his beloved wife had a deadly genetic disease.  Cystic fibrosis is a very difficult disease to live with, though Julie’s case must have been relatively mild up until she got so sick at age 23.  Roy had to learn how to pound on his wife’s tiny body to shake loose the thick mucous that forms in CF patients.  He also had to learn how to be a good advocate for his wife, standing up to doctors and even leaving against medical advice when they didn’t seem interested in helping her.

When Julie was 41 years old, her body began to wear out.  She needed a lung transplant.  The fact that she had made it to 41 was, in and of itself, a miracle.  But if she didn’t get new lungs, she would die.  Ice explains how he and Julie ended up at the University of Kentucky in Lexington and Julie spent about three months waiting for her new lungs.  Interestingly enough, Julie’s doctors passed over a number of lungs before Julie finally got them at around Christmas time in 2011.  Apparently, a lot of organ donors in Kentucky are smokers.

My thoughts

For a self-published book, I think Julie: The Courage To Breathe is pretty damn good.  Ice has an engaging writing style and his love for his wife is plainly evident.  However, I would be lying if I said this book, as good as it is, is five star worthy.  If I were basing my rating on the love story alone, it would rate five stars.  But Ice’s book has a number of typos and editing glitches that weaken it somewhat.  At one point, he references that Julie is in the hospital on December 14, 2012, which wasn’t even a year ago.  But then a couple of pages later, the date is December 18, 2011.  Obviously, 2012 was a typo that whoever was editing didn’t catch.

I read the Kindle version of this book.  At the end, Ice includes a few photos of Julie, whose weight, by the time of her transplant, had dwindled down to 61 pounds.  He mentions this fact several times, though it’s hard to really see what that means until you see a color photo of Julie post transplant, still looking really gaunt, but managing to smile.  There’s another photo of her hooked up to a bunch of machines, but you don’t really get a sense of her physical frailty because she is surrounded by tubes and machines.  There’s what appears to be another photo in my version of the book, but apparently it didn’t post properly; instead, there’s a tell-tale white box with a red X in it.

Also, Ice doesn’t give a whole lot of insight into what CF is and what it does to the body.  His story is long on anecdotes, but a bit short on facts.  I had read Frank Deford’s Alex: The Life of A Child and Anabel and Isabel Stenzel Byrnes’ book, The Power of Two, which is about twins with cystic fibrosis.  Those two books were more informative about what CF is, so I already knew about that.  Ice doesn’t include as much information about the actual disease, so those who know nothing about CF probably won’t learn much about it by reading this book. 

I would love to see this book get reprinted after it’s been read by a good editor who can clean up the typos and glitches.  It’s a story well worth reading.  I was moved by Ice’s obvious love for his wife and his willingness to see her through such a devastating disease.  Moreover, Roy and Julie just seem like a really nice couple.  They appear to be people I’d like to know.  All proceeds from this book will be donated to the Cystic Fibrosis Foundation, which is no doubt a very worthy cause.

Anyway, if I were posting this on Epinions, I’d give it a solid four stars.  If the editing glitches were cleaned up, I’d give it five.  I had a hard time putting this book down once I got started.  You can read a news article about Julie and Roy Ice here.  You can read about Julie’s “Dream Team” here.     

I hope you enjoyed reading this review.  If Epinions doesn’t clean up its act soon, I may start putting all my book reviews here… or maybe start yet another blog… 

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ethics, healthcare, Reality TV

Repost: Is it ethical to deliberately pass on genetic anomalies?

I am reposting this content from June 4, 2017, because it goes with yesterday’s reposted content about Huntington’s Disease. This post appears mostly as/is.

This morning, I read an interesting article about Zach and Tori Roloff of the TLC series Little People Big World.  I have seen the show before, but it’s been several years.  I didn’t know that Zach and Tori were expecting a baby, but the news popped up in my Facebook feed.  When I read it, I learned that their new son, Jackson, has achondroplasia, like his father, Zach.  That means that Jackson, like his father, has dwarfism.

Many different people shared this story.  I happened to read the version shared by George Takei.  Given the type of people who follow Mr. Takei’s Facebook page, the comments were a bit more controversial than they were on other places where this news was shared.  One guy– who was either really brave or stupid– posted this, along with an angry smilie.

The only species on earth that perpetuates its mistakes in genetic material on purpose.

Naturally, this comment prompted a number of outraged responses.  People were angry that this poster had the nerve to state that dwarfism is a “mistake”.  One lady posted this.

Excuse me? Being a little person is not a mistake.

Later, the lady who posted the above comment that identified her as a “little person” posted this…

No eugenics is also advocating that only people with “good genes” reproduce. Deciding whether or not to reproduce is a personal decision. My parents knew they had a probability to have a dwarf and still chose to have me. I am not genetically inferior. My birth and life are not a strike against us. Do you not understand what you are writing and how offensive it is to tbose of us who obviously do meet your criteria for being genetically correct.

I am not genetically inferior. I am shorter than average. Who decides what is a genetically superior height? I don’t need longer legs so I can hunt for food. My legs work well enough to walk through a grocery store, drive a car, and get me from point a to b. I don’t need strength to draw a bow. Science and technology keep me from needing to be a hunter and gatherer. I can type 130 wpm. I have a college degree and an IQ of 150. What is your idea of good genetics? Should I be 5’10”, white, blonde and blue eyed. I wear glasses. Should people with non 20/20 eye sight not reproduce.

I will grant that the poster who made the first comment was harsh and insensitive.  I can understand why people were offended.  At the same time, I wonder how many prospective parents are overjoyed to hear that their child has a genetic anomaly.  Do parents pray that their children will be born “different” somehow?  Do parents wish for their babies to be born with special physical, mental, or emotional challenges that might make their lives more complicated and difficult?  My guess is that the vast majority of them do not.  So, on one level, the first poster makes sense, even if the way he expressed himself is very objectionable.

This particular debate went on for a bit, so I’m not going to post the whole thing.  I will say that I noticed this subject brought out the emotions in a lot of people.  Many people seemed to be commenting from their hearts rather than their heads. 

It reminded me of an article I read in the Washington Post about fifteen years ago.  Bill and I were dating and, in those days, it was his habit to go out on Sunday mornings and pick up a paper for me.  I remember sitting on the floor in his shitty studio apartment and reading it over coffee and doughnuts.  I came across this featured piece about couples in the deaf community deliberately trying to have deaf babies.  I remember reading outraged comments about this movement.  Many people were offended that deaf parents would want to intentionally inflict deafness on a child.

From the article:

Several months before his birth, Sharon and Candy — both stylish and independent women in their mid-thirties, both college graduates, both holders of graduate degrees from Gallaudet University, both professionals in the mental health field — sat in their kitchen trying to envision life if their son turned out not to be deaf. It was something they had a hard time getting their minds around. When they were looking for a donor to inseminate Sharon, one thing they knew was that they wanted a deaf donor. So they contacted a local sperm bank and asked whether the bank would provide one. The sperm bank said no; congenital deafness is precisely the sort of condition that, in the world of commercial reproductive technology, gets a would-be donor eliminated.

So Sharon and Candy asked a deaf friend to be the donor, and he agreed.

From what I’ve read so far about Zach and Tori Roloff, which is admittedly not much, they didn’t necessarily plan to have a baby with dwarfism.  I’m sure they knew the risks and were okay with them.  And really, thanks to TLC shows like Little People, Big World and The Little Couple, more and more people are becoming acquainted with dwarfism and the challenges it presents, as well as the fact that little people can lead normal lives, perhaps with a few alterations of their environments.  I remember watching Jen Arnold on The Little Couple go about her business as a doctor.  I watched Jen and her husband building a house that was custom made for people who aren’t a normal height.  

Hell, the other day, I even started watching a German TV show (filmed in Stuttgart, no less) called Dr. Klein.  Klein is the German world for small and the star of the show, actress Christine Urspruch, is herself a dwarf who plays a doctor with dwarfism.  She wears a sexy red dress and red high heeled pumps.  She drives a little red car.  She has a family– including kids, although if memory serves, the kids on Dr. Klein are all normal height.

So yeah, a lot of people are being exposed to people who are different and realizing that they can have normal lives.  But does the fact that people who have congenital “defects” (for lack of a better word) mean that we should, as people, be actively trying to promote them?  Is it fair to deliberately pass on genes to a child who may have a hard time adapting to that condition?  Is it fair to handicap a child on purpose?

I have seen videos of hearing impaired people who hear something for the first time in their lives.  The looks on their faces are unforgettable…

This deaf lady hears music for the first time…
Grayson hears his father speak for the first time.

I’m sure it’s different for little people, although there are so many different types of dwarfism and they seem to affect people differently.  A person with a normal sized trunk and short arms and legs might have different challenges than a person whose body is proportioned, but very short or small.

In any case, regardless of how a person feels about this particular issue, I will go on record as saying that I agree that people must make their own reproductive choices, although I do think those choices should be made with much thought and consideration.  In the past, I have written about my neighbors whose family was heavily affected by Huntington’s Disease, a congenital and ultimately fatal disease that causes people to lose control of their bodies and eventually their minds. 

I remember my neighbor, who died at age 39.  She’d been a mother of three.  When we were children, she told me that she had a fifty percent chance of developing Huntington’s Disease.  I remember her father and her brother, both long dead now, who were very sick and disabled.  My neighbor’s father was forced to move into the local psychiatric hospital when he was in his 30s.  At one time, he’d been a perfectly normal man who was able to father two children.  When I met him, he was 32 years old and wheelchair bound.  He couldn’t speak normally or walk.  His son, then about 13, was also very sick.  He drooled constantly, required home care, and could not ride the shiny red bike parked in the garage.  My parents later bought that bike and gave it to me after the boy died at age 14.  I don’t think he’d ever been able to ride it, so it was like brand new.

Many years later, the boy’s sister, my neighbor and a friend, was afflicted with the same devastating disease.  Two of her three children are now dead, though neither died of Huntington’s Disease.  Both died in car accidents.  My friend’s daughter, aged 2, was tragically killed when her mother accidentally ran over her.  Her oldest son died just a couple of years ago in a more normal car accident.  They left behind a brother who has a fifty percent chance of getting Huntington’s Disease, and now he has a son of his own.  I wonder what it must be like for him, knowing that he might die at a young age of a cruel disease that his mother knew full well she was at risk of passing on to him.

Maybe dwarfism isn’t the same thing as a disease like cystic fibrosis or Huntington’s Disease.  Maybe being a little person is more like being born with one blue eye and one brown eye (I knew someone with this genetic “anomaly”, too).  Maybe it’s like being born with perfect pitch, which I have– although I’m not sure that is necessarily a genetic thing, since I don’t know of anyone else in my family who has it.  Maybe being a little person presents few challenges other than being really short and perhaps disproportionate.  Or maybe there will be challenges.  I don’t know.  But I must admit that article and the comments really got me thinking today.   

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ethics, healthcare, memories, Neighbors

Repost: Perpetuating the genetic nightmare…

I am reposting this piece from August 30, 2017, because it goes with the book review I reposted today. It appears as/is. Special thanks to Leevan Jackson who made the featured photo available through Creative Commons.

I have written a few times about my childhood neighbors, people who lived across the dirt road from us in Virginia.  In 1980, when we moved to Gloucester, they were a family of four.  There was a mother, father, brother and sister.  The father did not live at home.  He was in his early 30s and lived at the local psychiatric hospital in Williamsburg because he was suffering from Huntington’s Disease.   The mother was raising her children, twelve year old Michael and nine year old Leslie, by herself. 

In 1980, Michael was also suffering from Huntington’s Disease, having inherited the defective gene and developed the disease much earlier than most people with Huntington’s Disease do.  He died in 1982.  His and Leslie’s father died a couple of years after that.

I was eight in 1980.  I met all of these people when I was a child.  Leslie’s mother worked for my dad for several years until Leslie’s paternal grandmother died and Leslie’s mom inherited some money.  Leslie’s mom bought her own picture framing business and competed against my dad.  The business eventually failed.

Leslie and I weren’t close friends, but we did grow up together.  My parents included Leslie and her mom on a couple of family trips.  In 1985, I remember we all went to Kitty Hawk, North Carolina together.  I seem to remember Leslie and her mom coming with us to Natural Bridge, Virginia once, too.  I grew up waiting for the bus with Leslie and used to dog sit for her mom when they’d take trips to the Smoky Mountains.  Leslie was bright and talented and probably could have done some great things had she not been doomed to get Huntington’s Disease while still fairly young.

Leslie died in 2010, having battled the disease for several years.  She was 39 years old.  She’d given birth to three kids.  One of them died in a freak accident in 1995.  Leslie’s little daughter, just two years old, was accidentally run over by Leslie at the local Walmart.  For some reason, Leslie had allowed the little girl to stand up behind the driver’s seat.  If I recall correctly, she was just coasting forward to the drink machines and, for whatever reason, decided not to put the kid in a car seat.  Leslie had inexplicably left the car door open and the girl fell out and ended up under the car’s tires.  Her older child, then just three years old, was also there.  In 2012, when he was 21 years old, that child would also die in a car accident.  I have to wonder if the accident was really an accident or if the young man had started getting symptoms of Huntington’s Disease and decided to commit suicide. 

In 1996, Leslie had her third child, another son.  He is the only one of her children still living.  I have never met Leslie’s youngest child, but I know his family well.  I also know his dad, since he was in my class in school.  In the 80s, Gloucester was the kind of place where everyone knew each other.  I also knew of Leslie’s older son’s family, since his grandmother used to clean my parents’ house. 

Last night, I decided to look up Leslie’s sole surviving son.  I see that he recently became a father.  I have to wonder how much exposure he got to his mother when she was sick.  I didn’t see Leslie during those years because I left our hometown, but I do remember meeting her father and seeing her brother on a daily basis.  I remember what Huntington’s Disease looked like at an advanced stage.  It’s absolutely devastating.   

I just started reading a book about a woman who married into a family with the Huntington’s Disease gene.  The woman fell in love with her husband before he knew his mother had Huntington’s Disease.  She was dating him when he and his three older sisters found out why their mother wasn’t around when they were growing up.  She’d been in a psychiatric hospital.  The family patriarch wasn’t much of a father figure, so it was left up to the eldest daughter to take care of everyone.  Somehow, the four kids grew up not knowing that their mother had a genetic disorder.  I’m probably halfway through the book so far… The author decided to play the odds and have a son with her husband.

I learned in the book I’m reading that famed songwriter, Woody Guthrie, had Huntington’s Disease.  He had eight children, five of whom died young.  His second of three wives, Marjorie Guthrie, started what would eventually become the Huntington’s Disease Society of America.  Marjorie had four children with Woody, including famous singer-songwriter Arlo Guthrie.  Woody was married to his third wife for just a year before they split; he died in 1967 at age 55.  Woody was never really treated for his disease.  People thought he had schizophrenia or was an alcoholic, due to the extreme mood swings the disease caused.  Because he was famous, his death brought awareness to Huntington’s Disease.  It looks like Arlo and two siblings have escaped their father’s fate.  Today, I very much enjoy listening to music by Arlo’s daughter, Cathy, who plays ukulele in the duo, Folk Uke, with Amy Nelson (Willie Nelson’s daughter).

One of Woody Guthrie’s most famous songs…
Arlo Guthrie performs “Alice’s Restaurant”…
Cathy Guthrie and Amy Nelson performing as Folk Uke.

Every child who has a parent with Huntington’s Disease has a fifty percent chance of developing the disease.  Huntington’s Disease, although genetically perpetuated, is not like cystic fibrosis.  With CF, both parents must have the genetic defect.  Even then, a child born to parents carrying the CF gene has a one in four chance of getting cystic fibrosis, a one in four chance of being clear of the gene, and a two in four chance of being a carrier.  With Huntington’s Disease, it’s a one in two chance.  And if you have the gene, you will get the disease and likely die from it.  There is no treatment or cure for Huntington’s Disease.

A few months ago, I wrote a post about the ethics of knowingly passing along defective genes.  That post was inspired by Zach and Tori Roloff, stars of the TLC show Little People Big World.  They’d just had a baby and some people were saying that they shouldn’t have, since Zach has achondoplasia. Their son, Jackson, also has achondoplasia, which is a type of dwarfism.  For the record, I will say that dwarfism is not quite the same thing as something like CF or Huntington’s Disease.  A person who has achondoplasia can be basically healthy, though abnormally short.  CF and Huntington’s Disease are very serious and debilitating.

I think Huntington’s Disease, in some ways, is crueler than CF is.  Many people with CF are sick from babyhood.  They grow up sick, although some sufferers are much sicker than others.  They often know from a young age whether or not they will be affected by CF. 

A person with a family history of Huntington’s Disease can start life completely normal and not get sick until they’re approaching middle age.  They can develop lives, start families, have careers, and ultimately be stricken by a disease that makes them lose control of their bodies and their minds.  People with Huntington’s Disease grow up wondering if and when it will strike and whether or not they should get tested for the gene.  If they get tested, the news could be good.  They might not have the gene.  Or it can be bad; they have the gene and will eventually get very sick and probably die young.

Leslie’s family was devastated by Huntington’s Disease.  It seemed the gene in her family was worse than some others.  I remember hearing that her grandfather, whom I never met, had the disease.  He’d been adopted and never knew he had a genetic anomaly, so he and his wife, Vashti (whom I did meet), had a family.  I know that besides Leslie’s dad, at least one other sibling got the disease and died young.

I remember my mom telling me, quite emotionally, that Leslie’s mother should have had her daughter’s tubes tied when she was a baby.  I explained to my very practical mom that it would have been unethical to tie Leslie’s tubes.  What if she had been born clear of the gene?  There was a fifty percent chance that she had the defect, but there was also a fifty percent chance she didn’t.  She could have lived a completely normal life.  In 1971, when Leslie was born, I doubt the technology was there to know.  By the time genetic testing was available, I’m sure Leslie didn’t want to know.

I wish Leslie’s grandson much luck.  I truly hope he isn’t going to be afflicted by this terrible disease.  Life is a crap shoot.  He has an aunt and uncle who may or may not have had the genes for Huntington’s Disease and still died very young.  Not having the misfortune of being burdened by a genetically passed disease myself, I can’t even know what it’s like to live with the knowledge that I’m doomed.  Hopefully, Leslie’s son and grandson have escaped Huntington’s Disease.  That disease is a fate I would not wish on my worst enemy.  On the other hand, if Woody Guthrie hadn’t had children, we would be missing out on some great music.

I’ll write a review of the book when I’m finished with it.  It’s amazing what provides food for thought…  And it’s also crazy that I know so much about someone I’ve never met.  It’s not the first time this has happened, either. 

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