What Can a Parent Do?
Contents
*Video or Pictures of Tay-Sachs
Project Shui Home Page
*Welcome From Shui
What is the Cure Tay-Sachs Foundation?
How Close are we to a Cure?
*Rachaeli's Friends
Sign up for Updates
*Bar Mitzvah Video Invite
What is Project Shui?
Thank You From Shui
Internet Ads&Marketing
What is Shavuot?
Shavuot & Shui's Sister
What is Tay-Sachs?
Tay-Sachs Diagnosis:
Part I
Part II
Genetics Made Fun
*Lysosomes The Movie
*Genetics 101 Video
Narrated by Alec Baldwin
Genetics 101 Article
*Inspirational Videos
*Beautiful Faces of Lysosomal
*Tay-Sachs Talk
*Connor Hopf Cure Tay-Sachs
*2010 Faces of Tay-Sachs
*My Soul Sister-Molly Grace
*Our Star Dakota
*Rachaeli's Song of Love
*Elise-A Child Living with Tay-Sachs
*Last Laugh
*Meet Gavin
Tay-Sachs in the Media
*Glee Sectionals
*Grey's Anatomy Sweet Surrender
*Law & Order SVU MERCY
*21 Below Documentary
Legal & Financial Issues
What is Wrongful Life?
Right to Live in the United Kingdom
How to Pay Medical Bills?
Social Security Disability
CHIPRA-Insurance for Kids
Medicaid Waiver Programs
Katie Beckett Medicaid
Who is Katie Beckett?
Why Do We Need The
Katie Beckett Waiver?
Eligibility for Katie Beckett
Katie Beckett in Georgia
Katie Beckett's Going Home
(from People Magazine 1981)
Treatment or Cure
Canavan Pioneers
*Gene Therapy
Jacob Sheep Sensation
Article in Forward-Jacob Sheep
*Stem Cell Transplants
Enzyme Replacement
Substrate Inhibitors
Should I Try Zavesca?
Letter for Insurance
Approval for Zavesca
Chaperone Therapy
In-Home Medical Care
Home Health Care
Respiratory/Secretions
Coping Strategies
Coping with Humor w/ Shui's Dad
Rachaeli's Story
Shocked by Tay-Sachs Article
The Project Shui Family
Mommy's Online Journal
Abba's Online Journal
Shui's Fun Pages
Guestbook
Sitemap
Return to Top
*Video or Pictures of Tay-Sachs
Project Shui Home Page
*Welcome From Shui
What is the Cure Tay-Sachs Foundation?
How Close are we to a Cure?
*Rachaeli's Friends
Sign up for Updates
*Bar Mitzvah Video Invite
What is Project Shui?
Thank You From Shui
Internet Ads&Marketing
What is Shavuot?
Shavuot & Shui's Sister
What is Tay-Sachs?
Tay-Sachs Diagnosis:
Part I
Part II
Genetics Made Fun
*Lysosomes The Movie
*Genetics 101 Video
Narrated by Alec Baldwin
Genetics 101 Article
*Inspirational Videos
*Beautiful Faces of Lysosomal
*Tay-Sachs Talk
*Connor Hopf Cure Tay-Sachs
*2010 Faces of Tay-Sachs
*My Soul Sister-Molly Grace
*Our Star Dakota
*Rachaeli's Song of Love
*Elise-A Child Living with Tay-Sachs
*Last Laugh
*Meet Gavin
Tay-Sachs in the Media
*Glee Sectionals
*Grey's Anatomy Sweet Surrender
*Law & Order SVU MERCY
*21 Below Documentary
Legal & Financial Issues
What is Wrongful Life?
Right to Live in the United Kingdom
How to Pay Medical Bills?
Social Security Disability
CHIPRA-Insurance for Kids
Medicaid Waiver Programs
Katie Beckett Medicaid
Who is Katie Beckett?
Why Do We Need The
Katie Beckett Waiver?
Eligibility for Katie Beckett
Katie Beckett in Georgia
Katie Beckett's Going Home
(from People Magazine 1981)
Treatment or Cure
Canavan Pioneers
*Gene Therapy
Jacob Sheep Sensation
Article in Forward-Jacob Sheep
*Stem Cell Transplants
Enzyme Replacement
Substrate Inhibitors
Should I Try Zavesca?
Letter for Insurance
Approval for Zavesca
Chaperone Therapy
In-Home Medical Care
Home Health Care
Respiratory/Secretions
Coping Strategies
Coping with Humor w/ Shui's Dad
Rachaeli's Story
Shocked by Tay-Sachs Article
The Project Shui Family
Mommy's Online Journal
Abba's Online Journal
Shui's Fun Pages
Guestbook
Sitemap
Return to Top
What Would Rachaeli's Parents Do
As physicians, the last thing Rachaeli's parents wanted to consider was
to sue another physician. However, at the time of diagnosis, one is so
confused and shocked they have to ask themselves, "How could this have
happened?" If you fit into one of the high risk groups, you naturally
feel personal guilt for not having been more meticulous when providing
your medical history and cultural background to your doctor. You may
also feel anger, as if you've been wronged, as if someone did this to
you out of negligence. Even if you live on an elevated spiritual plane
and are able to see your child's new fate as part of a much bigger
picture, your pain and heartache inevitably bring you back down to
earth, where you want to fight for your child and what she, and you,
have to endure. Even if you know in your heart that there is a reason
for this and everything else in this world, and that no one is able to
fully comprehend the mysteries of life, you still need to look for
answers so that no stone is left unturned, so that you can feel
confident that you did everything possible for your child.
Rachaeli's father was tested for Tay-Sachs, for the presence of the enzyme Hex A in his blood, about 8 years before Rachaeli was born. The results were read as "non-carrier." Rachaeli's mother was not tested, believing that not being an Ashkenazi Jew put her risk at zero. Rachaeli's paternal aunt was a known Tay-Sachs carrier, so they were aware the recessive gene was in the family, but given the other data, they were quite confident that their children were not at risk for the disease.
In their situation, the laboratory reading, or the cut-off enzyme level the lab made between carrier and non-carrier, was inaccurate. Even so, Rachaeli's father's reading was just one or two percentage points outside of the carrier range. Knowledge that his sister was a known carrier and that his Hex A levels were almost in the carrier range, should have prompted a re-test for the enzyme level or a chromosomal analysis for one of the genetic mutations causing Tay-Sachs. This was not done. If there was negligence, it weighed more heavily on the laboratory as their reference range for a carrier was much lower (required a much lower level of enzyme activity) than the range other labs used. Using another lab, Rachaeli's father would have been identified as a carrier 8 years before her birth.
Rachaeli's parents were informed of a legal situation termed "wrongful life", or "wrongful birth". In their case, it did not apply because the state in which they were tested, Pennsylvania, did not recognize or allow wrongful life law suits. In another state, it would have qualified. The term "wrongful birth" will be described and discussed on the page entitled, What is Wrongful Life.
Rachaeli is now7-1/2. Do her parents wish they could have settled a law suit? Possibly. It was a straight-forward case that most likely would have settled out of court. At the time, they did not pursue it any further.
Now, at 7-1/2, they realize how much some extra money could help them better take care of their daughter. She's a big girl, the length of a normal 7-year-old, but much heavier-feeling because she fluctuates between flopping and stiffening up when you carry her. Her mother has yearned for a motorized chair lift for the stairs, which would allow her to put Rachaeli on her lap and be "driven" down the stairs. Instead, she typically keeps her in her tiny, second story room because the burden of lugging her up and down the stairs is so great; she has pulled out her back and shoulder a few times already.
Her mother covets many different types of disability equipment: a hoist and ceiling track to transport her from bedroom to bath; a bath chair that rises to waist level to avoid the deep bend required to take her out of the tub; a wheelchair ramp over the front steps of the house, which would make taking a walk outside a pleasure and not the burden it can be; an RV for travel, so they could pack in all of her equipment, allow her to lie down while driving, and bypass the need to move everything into and out of hotel rooms (her parents usually take individual trips with her brothers and the other stays home with her); and the list goes on.
One reason for not investing in any of these disability extravagances is the cost; they just don't have extra money, especially since her mother stopped working 5 years ago. The other is the uncertainty that she will be with them in another day, week, or month. She has well surpassed her life-expectancy. Is it worth investing in such expensive equipment? If they had known she would be here as long as she has, they would have made obtaining these items a priority years ago. Had there been a settlement, finances would not have been an issue and Rachaeli would now have all equipment a severely medically fragile, (almost) 8-year-old child would need.
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As physicians, the last thing Rachaeli's parents wanted to consider was
to sue another physician. However, at the time of diagnosis, one is so
confused and shocked they have to ask themselves, "How could this have
happened?" If you fit into one of the high risk groups, you naturally
feel personal guilt for not having been more meticulous when providing
your medical history and cultural background to your doctor. You may
also feel anger, as if you've been wronged, as if someone did this to
you out of negligence. Even if you live on an elevated spiritual plane
and are able to see your child's new fate as part of a much bigger
picture, your pain and heartache inevitably bring you back down to
earth, where you want to fight for your child and what she, and you,
have to endure. Even if you know in your heart that there is a reason
for this and everything else in this world, and that no one is able to
fully comprehend the mysteries of life, you still need to look for
answers so that no stone is left unturned, so that you can feel
confident that you did everything possible for your child.Rachaeli's father was tested for Tay-Sachs, for the presence of the enzyme Hex A in his blood, about 8 years before Rachaeli was born. The results were read as "non-carrier." Rachaeli's mother was not tested, believing that not being an Ashkenazi Jew put her risk at zero. Rachaeli's paternal aunt was a known Tay-Sachs carrier, so they were aware the recessive gene was in the family, but given the other data, they were quite confident that their children were not at risk for the disease.
In their situation, the laboratory reading, or the cut-off enzyme level the lab made between carrier and non-carrier, was inaccurate. Even so, Rachaeli's father's reading was just one or two percentage points outside of the carrier range. Knowledge that his sister was a known carrier and that his Hex A levels were almost in the carrier range, should have prompted a re-test for the enzyme level or a chromosomal analysis for one of the genetic mutations causing Tay-Sachs. This was not done. If there was negligence, it weighed more heavily on the laboratory as their reference range for a carrier was much lower (required a much lower level of enzyme activity) than the range other labs used. Using another lab, Rachaeli's father would have been identified as a carrier 8 years before her birth.
Rachaeli's parents were informed of a legal situation termed "wrongful life", or "wrongful birth". In their case, it did not apply because the state in which they were tested, Pennsylvania, did not recognize or allow wrongful life law suits. In another state, it would have qualified. The term "wrongful birth" will be described and discussed on the page entitled, What is Wrongful Life.
Rachaeli is now7-1/2. Do her parents wish they could have settled a law suit? Possibly. It was a straight-forward case that most likely would have settled out of court. At the time, they did not pursue it any further.
Now, at 7-1/2, they realize how much some extra money could help them better take care of their daughter. She's a big girl, the length of a normal 7-year-old, but much heavier-feeling because she fluctuates between flopping and stiffening up when you carry her. Her mother has yearned for a motorized chair lift for the stairs, which would allow her to put Rachaeli on her lap and be "driven" down the stairs. Instead, she typically keeps her in her tiny, second story room because the burden of lugging her up and down the stairs is so great; she has pulled out her back and shoulder a few times already.
Her mother covets many different types of disability equipment: a hoist and ceiling track to transport her from bedroom to bath; a bath chair that rises to waist level to avoid the deep bend required to take her out of the tub; a wheelchair ramp over the front steps of the house, which would make taking a walk outside a pleasure and not the burden it can be; an RV for travel, so they could pack in all of her equipment, allow her to lie down while driving, and bypass the need to move everything into and out of hotel rooms (her parents usually take individual trips with her brothers and the other stays home with her); and the list goes on.
One reason for not investing in any of these disability extravagances is the cost; they just don't have extra money, especially since her mother stopped working 5 years ago. The other is the uncertainty that she will be with them in another day, week, or month. She has well surpassed her life-expectancy. Is it worth investing in such expensive equipment? If they had known she would be here as long as she has, they would have made obtaining these items a priority years ago. Had there been a settlement, finances would not have been an issue and Rachaeli would now have all equipment a severely medically fragile, (almost) 8-year-old child would need.
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