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How an HB couple sidestepped Huntington’s disease
Genetic screening to weed out embryos that harbor abnormalities can help parents
protect their children’s futures. But critics contend the procedure serves as selective breeding.
By BLYTHE BERNHARD
The Orange County Register
CLEAN GENES: Stacy Brookhyser, right, kisses baby daughter Roxanne while holding Laurel with husband Mitch at their Huntington Beach house.EUGENE GARCIA, THE REGISTER
Like all new parents, Stacy and Mitch Brookhyser wonder who their baby girls will grow up to be. Where will they go to school? What jobs will they choose? Who will they marry?
But there’s one question they don’t have to ask – whether the girls inherited a defective gene from their mother.
The Brookhysers went through in-vitro fertilization and genetic screening of their embryos to ensure their twins, Roxanne and Laurel, now 9 months old, would not develop Huntington’s disease.
“We cared about our kids before we ever had them,” said Stacy Brookhyser. “Doing this doesn’t mean our children are perfect. It just means this is one less thing to worry about.”
Hundreds of babies have been born across the country through pre-implantation genetic diagnosis – selecting certain embryos over others to weed out genetic abnormalities from muscular dystrophy to hemophilia.
For a fatal disease like Huntington’s, eliminating affected embryos is currently the only hope for a “cure.”
Stacy Brookhyser, like her mother, aunt and grandmother, has a gene aberration that always leads to Huntington’s disease. If a cure is not found, the 31-year-old will probably develop symptoms in her late 50s or early 60s. The devastating illness affects almost every aspect of brain function, causing its sufferers to eventually lose mobility and cognitive skills.
If conceived naturally, the Brookhysers’ children would have a 50 percent chance of inheriting the defective gene and therefore the disease. While it’s possible to test a fetus during pregnancy and then decide on an abortion, the Brookhysers wanted to test the embryos before Stacy became pregnant. The technology gave them some control over the insidious disease, she said.
“I truly believe that God gave us this technology to be able to protect our next generation.”
First, the couple had to prepare for in-vitro fertilization, in which a woman’s ovaries are stimulated with drugs to release extra eggs. The eggs are collected surgically and fertilized with sperm in the lab. When the embryos grow to eight cells a few days later, one cell is removed and tested for the malformed gene. Three of the Brookhysers’ nine embryos tested negative and were implanted in Stacy’s uterus.
The cost of the procedure is prohibitive for many families. Embryo testing costs about $5,000, on top of $10,000 to $15,000 for the in-vitro fertilization treatments. The Brookhysers, who live in Huntington Beach, have health insurance through Mitch’s job with the Los Angeles County Fire Department. The insurance plan reimbursed 70 percent of one round of the screening and fertilization, which resulted in the birth of the twins.
FLYING HIGH: Stacy Brookhyser, right, carries baby daughter Laurel aloft as husband Mitch holds up Roxanne at their Huntington Beach house. Brookyser carries the mutated gene that causes Huntington’s Disease, but through genetic testing, they selected embryos that did not carry the gene.EUGENE GARCIA, THE REGISTER
Embryo selection has also been used to prevent the births of children with Down syndrome, cystic fibrosis and Tay-Sachs disease, among about 200 other conditions that are linked to a particular gene or chromosome abnormality.
Some disability advocates say the screening is a form of discrimination and implies that a life with a disability or illness is not worth living. Groups against abortion are opposed to the procedure because it involves the destruction of embryos.
“The basic objection is the clearest objection: it destroys human beings,” said Stephen Napier, a staff ethicist for the National Catholic Bioethics Center in Philadelphia.
Other critics fear that embryo screening is a form of eugenics (selective breeding) and a steppingstone to choosing only those babies who will grow up athletic, beautiful and smart. Scientists say those fears are premature, since characteristics like height and intelligence are controlled by many genetic and environmental factors that can’t be controlled in a laboratory.
Nevertheless, some European countries have banned certain types of embryo screening on moral grounds. In the U.S., there are no restrictions on how the technology can be used. One local ethicist said that’s a good thing.
“It’s a technology that should be available to parents to utilize as they see fit for their family formation,” said Judith Daar, a professor at Whittier Law School in Costa Mesa who also serves on UC Irvine’s medical ethics committee.
Others are opposed to the screening for less deadly or late-onset diseases. For example, someone who carries a gene that puts them at high risk for breast cancer won’t necessarily get the disease. And if they do, it could be 50 years down the line, after unknown advancements in treatment.
Dr. Lawrence Werlin, the Brookhysers’ specialist at Coastal Fertility Medical Center in Irvine, said he favors national guidelines for reproductive technology.
“You have to be careful. Are you eliminating an embryo that could have had a good future?”
OTHER IMPLICATIONS
SATISFACTION: Dr. Lawrence Werlin office walls are covered with babies and Mick Jaggar art from grateful parents. He offers pre-implantation genetic diagnosis for patients.CINDY YAMANAKA, THE REGISTER
While screening for specific genetic defects is the main reason the technique was invented, there are other, more controversial uses. Several fertility clinics in Orange County offer embryo screening to choose the sex of the baby.
According to a Johns Hopkins University study, most Americans approve of embryo testing for medical purposes. A minority felt the same way about using it for gender selection.
Sperm sorting is a less costly – and less controversial – method of gender selection because it doesn’t involve the elimination of embryos. But it’s also less reliable. Embryo screening is virtually perfect in predicting gender.
It’s not always about balancing the family or preferring one sex. Some parents decide to choose the sex of their baby because they are worried about passing on a disease that primarily strikes boys or girls.
Many fertility clinics offer embryo screening on demand to any couple undergoing in-vitro fertilization. After screening for chromosomal abnormalities that can lead to miscarriage, only the healthiest embryos are chosen to be implanted.
Lately, the use of embryo screening as an infertility treatment has come under scrutiny by researchers, with some experts saying the technique is oversold by fertility clinics. Embryo screening prior to implantation resulted in a lower birth rate, when compared to in-vitro fertilization alone, in a large Dutch study published this month in the New England Journal of Medicine.
Because fertility clinics are largely unregulated in the U.S., it is unclear exactly how many children have developed from embryos that have been screened for any reason.
For the Brookhysers, the costs and questions surrounding pre-implantation genetic diagnosis were well worth it, knowing their children would be spared from a deadly disease that robs people of their minds and bodies.
“I’m mostly afraid of losing who I am and not being able to control it,” said Stacy Brookhyser, as she held baby Laurel on her lap and looked over at her husband, who was holding Roxanne.
“They’ll never have to worry about it.”
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Coastal Fertility Medical Center offers one of the most affordable fertility treatments and is completely transparent regarding the costs of procedures and any other expenses that you may have to pay before commencing your treatment. This differentiates us from some fertility clinics that reduce prices before the signing of the contract but charge you extra later on. We make sure our patients are well aware of any possible extra pricing that may occur over the course of their treatment.
Following the Preimplantation Genetic Screening process, which helps ensure there are normal chromosome numbers and detects possible genetic disorders, the most healthy embryo(s) are selected to be implanted into your or your chosen surrogate’s womb. 2 weeks after the transfer of the embryo, your physician will conduct a final blood test to determine the level of hCG (human chorionic gonadotropin) in your body. Increased hCG levels usually indicate a positive pregnancy test.
For fertilization to take place, the collected egg and sperm are combined in a petri dish and cultured in an embryo incubator. This dish is closely watched to check whether any of the eggs have been fertilized. Once the egg is fertilized, it is referred to as an embryo or a blastocyst on the 5th day of development. Our in-house embryologist carefully nurtures every embryo to the right time, even if it means working outside the standard business operating hours. For instance: If an oocyte is not mature, our laboratory will wait for it to mature and then ICSI it at the right time.
The egg retrieval is a slightly invasive medical procedure that takes about 20 to 30 minutes. You will be given an anesthetic to make you sleep for the duration of the procedure. Using ultrasound technology, your doctor will harvest your eggs transvaginally with a small, hollow needle connected to an ultrasound probe. Once your eggs are collected, your partner’s semen or donor sperm you have pre-selected is used for fertilization. The sperm are washed and prepared, and the top-quality sperm extracted is used to fertilize the eggs.
Your doctor will create a customized medication schedule that contains information about the fertility medications and hormone injections you have to take. Medication and injections are taken to encourage your ovaries to mature a large number of eggs for fertilization. Since women don’t respond to fertility drugs and hormones the same way, personalized protocols are crucial to the IVF cycle success. At Coastal Fertility, we will monitor you closely, letting you understand the changes occurring in your body and keeping track of how your egg follicles are growing.
On-site consultations typicallyinclude a standard fertility evaluation, consisting of a physical examination, complementary follicular ultrasound, and testing to enable your doctor to know your present fertility status and draw up a treatment plan.
This consultation includes a detailed medical evaluation with a doctor. You and your physician will review your health records and have enough time to talk about your goals and get answers to your questions. We recommend that you jot down all your questions before the visit to allow you to make the best use of the time spent with your doctor.
Your Reproductive Endocrinologist will take all factors into consideration and create a comprehensive plan of care, otherwise known as the treatment plan. This plan will include treatment recommendations from the physician and enable your financial coordinator to make a precise quotation once you meet.
Our globally respected team of specialists are helping improve IVF technologies to enter into a generation of better outcomes for infertility. Although you’ll have a doctor guiding you, you are also going to benefit from the experience and insights of other doctors during case review collaboration meetings, which take place every week. So, you won’t just rely on the expertise of a specialist but benefit from the knowledge of many reputed fertility experts.
The infertility industry is currently segmented, with each service or treatment being handled by a different provider. Our all-inclusive model simplifies an otherwise complex and difficult process. We are here to revolutionize the infertility industry by offering a one-stop-service model to assist our patients through infertility challenges while reducing physical, emotional, and financial risks.
Our fertility clinic focuses on helping you build your family regardless of your sexual orientation or the gender you choose to identify with. We are even taking further steps to make LGTB people feel more welcome at our fertility clinic. Each of our patient-facing staff goes through LGTB training to let family-building clinicians provide necessary support and make you feel highly welcome.
We know that every situation is different and that everyone requires different treatments. Unlike facilities that take “a one-size-fits-all” approach for all cases, our fertility specialists use more than 40 customized protocols to raise the chances of success. The customized approach even extends to our fertility laboratory. Our on-site lab director and his highly-experienced team nurture every embryo and egg to increase the odds of success of each cycle.
Our team specializes in difficult cases and help patients who may have been considered “hopeless” at other fertility clinics. Thanks to our personalized solutions, expertise, and internal collaboration, weare able to maximize pregnancy success rates that are well above the industry average, even in difficult infertility cases.
Upon your arrival, you will check in with a Patient Care Coordinator. We will obtain your insurance information for benefits verification, a copy of your identification and take a picture for your electronic medical chart
Coastal Fertility is the leading provider of fertility solutions located in Orange County. Join us to get free updates on fertility news, treatments, infertility solutions and more.
Coastal Fertility is the leading provider of fertility solutions located in Orange County. Join us to get free updates on fertility news, treatments, infertility solutions and more.