We don’t know what the end game is, and that’s very stressful and upsetting to everybody,” Esther Herzfeld said...
For the family, it is important to receive a definitive diagnosis. That way, the children can benefit should a cure be discovered, said Esther Herzfeld, who scours the Internet for promising clinical trials or breakthrough treatments.
That is particularly true for Rivka. There was a time when her parents wondered whether she, as the oldest and the last to develop symptoms, might have avoided the disease. Now she has thrown herself headlong into a search for a diagnosis, agreeing to undergo expensive tests at a time when she is still adjusting to living with the condition.
“At least for me, I need to know a name because a question mark isn’t really doing it for me,” said Rivka, who wears a silver pendant around her neck that is engraved with her favorite Hebrew scriptures, reminding her to stay strong and focused.
Before her children began falling, Esther Herzfeld recalled, each started walking abnormally — at different ages and in different ways.
Tziporah was the first. When she was 11, she began putting her toes down first instead of her heel with every step. Then Tzvi, in middle school, started favoring the sides of his feet when he walked. Racheli began tiptoeing in the first grade. Finally, Rivka developed what her mother described as a “chunky” walk late in high school.
Tzvi’s symptoms progressed the fastest. Within about a year, he went from being an active young boy to needing a wheelchair to get around. Racheli uses a scooter, but only at school.
“Imagine being completely healthy one day, and then one day you go to sleep, you wake up, you start walking funny and within the next year you can’t walk anymore,” Tzvi said.
All of these distinctive gaits, Esther Herzfeld said, were actually early signs of muscle weakness in their feet. What followed was a long and frustrating effort to improve the children’s mobility and pinpoint a diagnosis — a journey that involved consultations with about a dozen doctors, including pediatricians, neurologists and geneticists, across North Jersey and at the best hospitals in New York City...
Arthur (father), who used to be in the jewelry business, has been sidelined by a chronic illness that he declined to discuss in detail...
“We believe in miracles because we don’t have any options,” she said.
Esther Herzfeld described her children as “fiercely independent,” determined, and unwilling to accept help unless it’s absolutely necessary. This summer they will celebrate three graduations: Rivka’s from Yeshiva University’s Bernard Revel Graduate School of Jewish Studies with a master’s degree in Bible studies; Tziporah’s from Yeshiva University’s Stern College for Women with a sociology degree; and Tzvi’s from Teaneck High School, with aspirations to become an attorney. Racheli, meanwhile, will be a sophomore at Ma’ayanot in the fall and dreams of becoming a writer.
“We’re down,” Rivka said with a smile. “But we’re not out.”
See also: https://www.youtube.com/watch?v=wWKvmsSB19w
Imagine you are 17-years-old: you just graduated from high school, you have the whole world ahead of you, then suddenly it all changes.ReplyDelete
Rivka Herzfeld remembers the moment she knew her life would never be the same, "I was on my senior trip with graduating class. We were away somewhere in New Hampshire or something. We were having a party, dancing, and I fell, and I fell. I was in high heel shoes and I couldn't get up."
While others might think it was just a clumsy moment, Rivka knew it was much more. That fall confirmed that she suffers from the same neurological disorder as her three siblings.
Over the past decade, the four Herzfeld children progressively lost muscle tone and function. As a result, they can't walk properly or complete everyday tasks. But, the worst part? It's an illness without a name, stumping doctors left and right.
Rivka is the oldest of the Herzfeld children, and the last to succumb to the condition. Her 22-year-old sister, Tziporah was the first, followed by 18-year-old Tzvi and then 15-year-old Racheli.
Tzvi is the only one among the Herzfelds who can't walk. Despite running, climbing and jumping as a young child, he now relies on a motorized scooter to get around. "When I was thirteen I remember not being able to walk straight. I started walking on my foot. When I started high school I couldn't walk anymore Honestly, I have lost all hope."
Their parents, Esther and Arthur, say the illness has left an emotional and financial burden. They estimate they have roughly $100,000 of debt. The costs are too much to bear. The doctor appointments, the therapy sessions and the everyday costs just to maintain a home only crack the surface. The family wants to renovate their home to make it more accommodating for their needs, but the money just isn't there.
Comments from 2 colleagues:ReplyDelete
1) There is not a lot of detail in the stories, but they obviously have a genetic disorder. Based on the limited information that is provided, cognition is obviously normal and with the low tone they seem likely to have dysfunction of the motor neurons, peripheral nerves, or muscles. I’d guess that by now someone has done EMGs and nerve conductions as well as WES, but evidently these either have failed to yield a diagnosis or else the stories failed to include a lot of details.
2) I'd request an EMG before donating.
Another colleagues comment: Hope they don’t get a second opinion in Boston.ReplyDelete
he Herzfeld siblings each stayed in the NICU after birth, but they were developmentally normal and healthy. Before each child developed his or her condition, Rivka and Tziporah were second-degree black belts, Tzvi and Rivka were proficient climbers, and they all enjoyed swimming and diving.ReplyDelete
“They were all just fine, and normal and fine, and seemingly healthy,” Esther said.
At age 11, Tziporah was the first sibling to present symptoms. Esther and her husband, Arthur, who is on disability for an undisclosed reason, always thought their daughter was a little clumsy, but they knew something was amiss after they found out she had been tripping and falling during gym class.
A pediatric neurologist diagnosed Tziporah with a condition consistent with Charcot-Marie Tooth Disease (CMT)...
Each Herzfeld child has unique symptoms— Racheli and Rivka walk on their tiptoes, for example— but the shape of all of their feet is consistent with CMT, as is their general gait...
“In seventh grade, [Tzvi] started walking with a funny gait and would fall once in a while,” Esther recalled. “He would say, ‘It’s OK, as long as I don’t have what Tziporah has.’ And just when he said that, I didn’t put the two together basically, and then I said, ‘Oh, my gosh.’”
In eighth grade, Tzvi began to walk on the sides of his feet. The following June, he went with Esther to Teaneck High School to register for classes and walked home. By September, he was in a wheelchair.
Doctors say CMT progresses more quickly in boys, but all of the Herzfeld children have tested negative for the disease. Tests have also proven inconclusive for other suspected neurodegenerative and mitochondrial conditions. One doctor pointed to an “inexplicable mutation,” Esther said...
Medical tests conducted in hopes of identifying an underlying cause for the Herzfelds’ condition— a muscle biopsy for Racheli and 32 CMT blood tests for Tziporah, among them— have all returned inconclusive results and contributed to the Herzfelds’ debt, Esther said.
Dr. Helio Pedro, section chief of genetics at Hackensack University Medical Center, in Hackensack, N.J., has been working with Rivka since August 2014, when he conducted her first round of genetic tests.
In May, Rivka submitted to an exome sequencing test, the most updated type of genetic test that looks at the entire genome, which is comprised of over 20,000 genes, and can cost upwards of $15,000. The test considers the individual in question, as well as his or her parents.
“Unfortunately, we do have families that have multiple children involved [in a genetic disease], and we do all the testing and we still can’t pinpoint exactly what the problem is,” Pedro told FoxNews.com. “It is a little bit concerning that we’ve done all this testing and still cannot really figure out what it is.”
Pedro said he couldn’t predict the underlying cause of the Herzfeld children’s ailment as past genetic tests have proven unhelpful, but he said advances in genetics offer hope for an answer in the future.
“The one thing I have to keep in mind is we’re looking at single genes, and whether there may be multiple genes interacting with each other,” Pedro said. “That may be why we can’t figure out what is going on— that may explain why there’s some variability with some of the family members.”
The first sign that something was wrong with the Herzfeld children came when 9-year-old Tziporah starting tripping over her feet and falling down in gym class. Several years later, her brother Tzvi began stumbling over tree branches and cobblestones, showing a clumsiness uncharacteristic of the swimmer athlete. On his last day of eighth grade he walked the entire way home — but by the first day of ninth grade, he was in a wheelchair.ReplyDelete
The mysterious illness soon affected all four kids. Rivka, the oldest, was next — she had no symptoms until after high school, when she could not complete a mountain hike during a trip to Israel. The youngest, Racheli, was the last. By age 5, she was having trouble getting on the school bus, and took to hoisting herself up onto the platform — exactly like Tziporah had, years ago.
"I threw up in the middle of the street. I was sick to my stomach," Esther, the children's mother, told ABC News about when she first realized what was happening...
Rivka, now 23, recently had extensive genetic testing done at the Hackensack University Medical Center. Doctors scanned for 50,000 possible gene abnormalities that could indicate disease, but again found nothing.
"The deeper [they go] into the testing process the fewer people have it and the less likelihood [there's treatment]," Esther told ABC News. "That's even more disheartening than it already is."