Our Families

Our Families

The Trebing Family – Diamond Blackfan Anemia

In 2002 Steve and Stacy Trebing were filled with joy when she gave birth to a beautiful baby girl. Just seconds later doctors observed the baby in respiratory distress. The baby was transferred to the NICU where multiple tests would be performed. The doctor announced “The baby needs a transfusion right now.” In a heartbeat, the Trebing’s joy turned to confusion, concern and fear.

Eventually, the respiratory distress was attributed to a diagnosis of Diamond Blackfan Anemia. The disease affects between five to ten babies out of every million born each year in the U. S. and Canada. Diamond Blackfan Anemia is a rare blood disorder that prevents the body from manufacturing red blood cells.

Blood transfusions help control the disease, but the only cure is a bone marrow transplant from a person that is a perfect HLA match. In an HLA match the donor and recipient’s tissues are immunologically compatible with each other. HLA are proteins that are located on the surface of the white blood cells and other tissues in the body.

Katie was the Trebing’s second child. Her older brother Calvin was not an HLA match. That left the Trebing family faced with a dilemma filled with ethical and medical questions. They knew if Katie did not have a perfect match the disease could cause an early death. On the other hand, if the Trebings conceived a third child who was a perfect match for Katie, they could face a lifetime of explaining why their third child meant far more to the family than just providing Katie with a match. The family knew he or she would be the third child they always wanted, just conceived differently.

The Trebings decided to conceive a third child with the help of in vitro fertilization (IVF). That decision created another question. How could they be sure their third child would be a perfect match? The Trebings turned to their fertility specialist who connected them to Genesis Genetics. There, Dr. Mark Hughes explained a process called Preimplantation Genetic Diagnosis (PGD). PGD is a laboratory procedure that is used in conjunction with IVF to help detect certain diseases and detect genetic information, like HLA.

For the Trebings, PGD presented a solution in their search for a sibling who could be a bone marrow donor. “Dr. Hughes, of Genesis Genetics, was phenomenal on how he broke the process down,” Stacy says. “After two cycles of IVF I was pregnant with a child who would be a perfect match for Katie and a welcomed addition to our family.”

Today, the Trebings are thriving.  Katie is on the verge of puberty and “baby” Christopher is a happy eight-year old.  Calvin at 13 is the first teenager in the family. Stacy says the period between Katie’s illness and Christopher’s birth does not dominate the Trebing’s life. “Everyone is good. We honestly don’t think about it until we go to Sloan-Kettering for our annual checkups.” Stacy veers away from giving advice to others who are in the situation her family experienced. “The only thing I could say is what we did and why. The decision is for you to make. For us it seemed like the best thing.”

Want to learn more about The Trebling’s family story?

The Trebing family and Newsday writer Beth Whitehouse collaborated to put their PGD journey to find an HLA match for little Katie on paper inside The Match: “Savior Siblings” and One Family’s Battle to Heal Their Daughter.

 

The Martin Family – Hemophilia B

Just two decades ago Tristan Martin’s birth would have signaled the beginning of a life filled with pain and uncertainty for him and his parents. For his parents the ramifications would also have extended to their decision to have a second child.  Advances in hemophilia treatment and Genesis Genetics changed all of that for the Martin family.

Tristan was born with Hemophilia B, a rare form of the disease. According to the National Hemophilia Foundation, any type of Hemophilia is generally “an inherited disorder in which one of the proteins needed to form blood clots is missing or reduced. In about 30% of cases, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation.” That’s what happened to Delphine and Anthony Martin.  There was no history of hemophilia in either of their families.

Surprisingly, as Delphine searched her family tree she discovered an interesting fact. Her family was a family of girls. Delphine recalls her search for further evidence of the disease. “I found all the boys in my family had died early. I also learned my mother and I were carriers.” Those observations are consistent with research results that identify women as the majority of carriers.  A carrier female transmits the trait to her sons 50% of the time but no daughters of a carrier female will show the trait.

Treatment for Tristan was successful. After researching all of the options and one too many trips to the emergency room, Delphine and Anthony fought for a port to be implanted in Tristan before waiting for another bleed to occur. The port transfers the correct dosage of infusions Tristan needed to prevent bleeding, allowing him to live as normally as possible.

“I was the lion mother,” Delphine says.

Her advocacy helped take her family to their next step.  By the time Tristan was three, and with his illness under control, the Martins began to consider expanding their family with a second child.  Delphine acknowledges how difficult it was to proceed.  They decided to try for a second child only if they could eliminate any chance of the baby either being a carrier or having hemophilia.

The Martins chose to undergo In Vitro Fertilization and Preimplantation Genetic Diagnosis  (PGD.) That led them to Genesis Genetics, a pioneer in the field of PGD. PGD is a technique used to identify genetic defects in embryos created through in vitro fertilization (IVF.) Dr. Mark Hughes, founder of Genesis Genetics, led them through the process of screening Delphine’s eggs through IVF.

“Dr. Hughes was the most calming influence. He treated us like we were family, never making us feel that our questions were stupid,” Delphine recalls.

Twenty-five embryos were produced. Only five did not carry the gene for hemophilia. The first implantation was not successful.

After another IVF process, two more embryos were implanted. Just one of those survived the process. The Martin’s daughter, Fantine, was born in November of 2011. She is not a carrier, changing the trajectory of the Delphine’s family for future generations.  The Martins were thrilled, even though there were those who questioned the ethics of their actions.

To the people who judged what the couple did Delphine replies, “ I can handle the disease, but as a mother I could not handle putting another child on this earth with hemophilia.”  Delphine acknowledges that such an important decision is a personal choice, yet feels the benefits outweighed the risks in this instance.” “ If I can help just one mother make a decision that is right for them. That’s all I’m asking. Find an IVF doctor who you can trust to the moon. I never had a doubt.”

 

Familial Dysautonomia (Riley Day Syndrome)

Familial Dysautonomia runs in our families. It’s just that no one knew.

A few months before our wedding, my husband and I were shocked to learn that we were both carriers of Familial Dysautonomia (also called Riley Day Syndrome), an inherited disorder that affects the development and function of nerves throughout the body. Currently about 50% of children with this condition live to age 30. We had never heard of this condition, and, as carriers, we had a one in four chance of passing this condition on to our children, and a one in two chance of our children having the carrier gene. Our genetic counselor suggested three options if we wanted to avoid having a child with Familial Dysautonomia:  In vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), getting pregnant naturally and testing the fetus at the end of the first trimester and, if necessary, terminating the pregnancy, or adoption. We were shocked at first, but quickly decided we would pursue IVF with PGD. We are fortunate to live in a time where science is rapidly evolving and were encouraged that we had options.

Working with Genesis Genetics was quite easy. Our fertility clinic put Genesis in touch with us. Genesis spoke with us on the phone, explained their services and procedures, and answered our questions. They then mailed us a very informative packet including a DVD which we read through and watched right away. From our side, all Genesis required was a simple cheek swab from me and my husband, along with as many of our parents who could participate. Genesis mailed us and our parents the cheek swab kit which was easy to complete and return to them. As it was explained to us, Genesis builds a probe that will be used to test our embryos for this genetic condition. Finding the abnormality is so difficult that it’s comparable to finding a single typo in an entire encyclopedia. We were told it could take up to 3 months for Genesis to be ready to test our embryos. Unfortunately it took 5 months, but Genesis kept us updated.

Once Genesis let us know they had completed building our test, we began the IVF process. The IVF process has its challenges:  medical, emotional, and financial. Once our eggs were retrieved, they were fertilized and left to become embryos. The embryos were biopsied to remove one cell, and that cell was sent to Genesis for testing. When we returned five days later our doctor shared the results from Genesis’s testing, explained how the embryos are graded, and we decided which healthy embryos to transfer. We never saw the magic that happens in Genesis Genetics’ lab, but it was there. They worked non-stop against the clock.

We became pregnant a full year and a half from our first appointment at the fertility clinic. Even though we had completed important genetic testing prior to becoming pregnant, we still underwent routine testing during the first trimester. These were simple blood tests and we were pleased to have no surprise results.

The IVF and genetic testing process was not without struggles. Our insurance covered IVF, but only a limited number of cycles. Even with insurance, many procedures were not covered and co-pays for treatment and medications added up quickly. Our insurance did not cover genetic testing, however, we discussed our situation with our employer and they agreed to have insurance cover some of the testing. We explained that it would be less expensive for them to cover these tests than to spend a lifetime paying for medical treatment for a child born with Familial Dysautonomia. Surprisingly, they agreed.

We now have one healthy child and would like to have another in the future. Genesis maintains our probe and will be able to use it for any future embryos that we choose to test for genetic complications. We are unendingly appreciative of the work of Genesis Genetics and our fertility clinic.

In the interests of privacy, this couple wishes to remain anonymous but if you would like more information on PGD please reach out to the Genesis Genetics team and we can put you in touch with the couple.

 

BRCA1 – The Kobell Family

I am the proud mother of a 2 year-old girl who some have called a “miracle baby.” This miracle had its basis in some of the most advanced medicine being practiced today, and would never have been possible without the hard work and technical skill, and expertise of Dr. Mark Hughes and his team at the Genesis Genetics.

My journey to become a mother began in April 2001, when at the age of 29, I learned that I had Stage II breast cancer, and that I was a carrier of the BRCA1 genetic mutation. Since my tumor was very aggressive, and because I was so young, my doctors recommended that I immediately undergo a lumpectomy followed by six months of chemotherapy and then radiation treatment. They also strongly encouraged me to have an oopherectomy (ovary removal) as soon as possible. Although it seemed inconceivable at the time, I informed my medical team that I hoped to have children someday. They told me there was no time to do any fertility preservation and that I would have to roll the proverbial dice where my fertility was concerned. While there was almost no data on precisely what impact the prescribed chemotherapy would have on my fertility, it was certain to have some impact, and there was a chance that I would become infertile as a result. Since my tumor was negative for estrogen and progesterone receptors, they told me that if I was still cancer-free three years after the completion of my treatment, I could safely start trying to conceive, but that it would be prudent to have my ovaries removed as close to the age of 35 as possible in order to gain the most benefit from their removal.

Fortunately, my cancer did not return, and in March 2004, three years after I completed cancer treatment, I began fertility treatment. After one visit to a fertility center in my area, where a physician suggested that I should consider not having a child in light of my history of cancer and BRCA status, I found my way to a wonderful fertility practice. I tried to conceive for over a year. However, because I was unable to conceive using less invasive methods, and was almost 35 years old, I decided it was time to move on to in vitro fertilization (IVF) so that I could proceed with my oopherectomy as soon as possible. Once it became clear that my circumstances required IVF, I wrote to physicians and geneticists in the United States and abroad, inquiring as to whether it would be possible to test the resulting embryos for the BRCA1 gene so that I could avoid passing it on to my child(ren), as each child would have a 50% chance of inheriting the gene. After being told by numerous geneticists and physicians that such testing was simply not possible in the U.S. for various legal, cost, and logistical reasons, I found my way to Dr. Mark Hughes, MD, PhD, and the Genesis Genetics in Detroit, Michigan. Dr. Hughes had recently secured permission from Myriad Laboratories, the company owning the patent to the genetic sequence for the BRCA mutations, to perform pre-implantation genetic diagnosis on embryos for the BRCA1 mutation.   Dr. Hughes patiently explained the process to me, and within a few months, after analyzing blood samples from my entire immediate family (including my sister’s DNA, which I brought back from Israel in a vial in my pocket), his genetics team had developed a genetic prototype to assist them in finding the abnormality in the embryos.

In April 2005, I underwent IVF at a fertility center in suburban Philadelphia, and was fortunate to have had a successful stimulation with fifteen embryos that were fertilized. My embryologists carefully removed a single cell from each of the embryos, which they placed on slides and couriered to Dr. Hughes’ lab in Detroit. Dr. Hughes’ team then worked around-the-clock for nineteen hours to locate the gene abnormality in each of the cells. Incredibly, his team was able to get conclusive results on eight of the ten embryos. Of those eight, four were affected with the BRCA1 gene and four were not – exactly the rate of incidence of the gene. My fertility doctor then implanted the most viable embryos that were unaffected with the BRCA1 gene, and nine days later, I received the wonderful news that I was pregnant!

In December 2006, I gave birth to a healthy baby girl, who I named Eve Helena after my mother, Helen Evelyn, a BRCA1 carrier, who unfortunately had passed away 18 months before Eve was born, after a long battle with ovarian cancer. As planned, I had my oopherectomy about a year after Eve was born, after undergoing a second round of IVF to preserve additional embryos. As a cancer survivor, assuming that I was even lucky enough to be able to conceive, I had always struggled with the competing desires to experience bringing another life into this world and the fear that this life would have to endure the same awful disease that my mother and I, and so many other family members had endured. Dr. Hughes and his team were able to make my dream of becoming a mother a reality. When Eve is old enough, I look forward to telling her the story of how she was brought into this world, and, in particular, how fortunate she is that there are wonderful people like Dr. Hughes and his staff, whose hard work, dedication and skill create miracles.

-Deena Kobell – Philadelphia, PA

 

Adrenoleukodystrophy (ALD)  – The Cry Family

When my wife and I married in June 2005 we had an understanding. We would not be having children together. We met under unusual circumstances. I am the Chief Executive Officer of The Adrenoleukodystrophy Foundation. ALD is a genetically determined neurological disorder that affects 1 in 17,900 boys with a fatal consequence. Since the fall of 1997 I have been living with the adult form of ALD. I have a disorder called AMN. My lower extremities have grown weak over the years because of the inability for the proper nerve impulses to be received. Jaymee’s family suffered greatly because of ALD. Her father, uncle, and two cousins all perished as a result of the disease.

When she contacted me in the late summer of 2003, she had finally reconciled her loss to the point that she wanted to know more about the disorder. Over a period of many months we became friends. Before long we both understood that fate was showing itself to us. I flew to Ohio to see her in October of 2004. Fifteen days later, on her birthday, I proposed to her at my close friend’s restaurant in New Orleans I guess that when you know, you just know.

A few months after enduring Hurricane Katrina in our home of Slidell, Louisiana, we made a quality of life decision and transitioned to Tulsa, Oklahoma. Shortly after arriving, Jaymee began to have baby fever. We met with a neighbor who runs an adoption agency. We discussed the possibility of traveling to Eastern Europe to pursue an adoption there. All the while, Pre-Implantation Genetic Diagnosis weighed heavy on my mind. At that point, I had referred at least six families to Dr. Hughes as the evidence of a pre-disposition to ALD had shown itself in each family. The more we went through the motions of adoption, the more desperately I wanted to give life to my own flesh and blood.

The first time I gave her “The Shot” we were on vacation. It was late June 2007 and we had been on a whirlwind trip with fertility specialists. Just after Christmas 2006, we decided that PGD was the route we wanted to pursue. Jaymee wanted to be pregnant. I wanted a son. An extension of myself. Because of the genetic nightmare related to ALD in both families we knew that a daughter was out of the question. ALD is x-linked meaning it is passed from mother to son. Because I have a bad X chromosome and so does my wife, we held the potential naturally to conceive a daughter who could actually have an active form of ALD. That was a chance that neither of us was willing to take.

The shots were a daily ritual. I had to inject a medicine in her belly, just under the button, so that she would produce enough eggs so that we might have the opportunity to make all of this work. When I tell you that Jaymee produced, well let’s just say that she was an award winning egg maker. The day her eggs we harvested they pulled out eighteen, nearly twice than normal, even when taking the medicine. The entire experience brought us closer. I could not conceive of what she felt each night when the needle went in but felt a kinship with her that I have never imagined possible. She was already my best friend but this somehow made us even closer.

“This is your son.” The doctor at the fertility clinic was extending his hand. A hand that held the picture of a blastocyst that was hours away from hatching into an embryo. I could see Jaymee’s eyes tear up just a bit.
“In my opinion, if this works, he will be the one who makes it.” The doctor had a stern but caring expression on his face. All it did was make me nervous.

There were two available eggs for us to implant. The day we arrived there were four, two with ALD and two without. Of the two we were implanting it was our hope to become parents. We knew all along that there were tremendous risks associated with all of this. The chance that we could go through these incredible motions and end up with nothing but the experience. While we understood this, we rarely discussed it at length. I decided early on that being positive about the whole thing was the only road we could travel. Jaymee had no fertility issues; however, I knew first hand that there were no guarantees.

We were told that it took several days before we would know one way or another about how things turned out. We were on pins and needles, barely speaking at times and when we did talk our discussions were easily the most generic versions that either of us had ever experienced. I wanted to be supportive but knew that Jaymee’s preoccupation with pregnancy meant I had to walk a line I could not see. Things were rather tense but I guess that was to be expected.

“It doesn’t look good honey.” It was Jaymee on the line. She was calling on her way to the office after an early appointment at the fertility clinic.

“What’s wrong?” the tension in my voice was palpable.

“They said my number is low. The number is supposed to be much higher than it is. It just does not look like we conceived.”

I was disappointed. I sat at my desk and considered all that we had done. I was completely at a loss.

The doctors asked Jaymee to come back three days later and have her screening done again. Since it was a Thursday, I took action. I booked a hotel room in a city we had never been to and we left Saturday morning for a much needed weekend away. We committed that we would not discuss pregnancy, fertility, babies… I almost forgot. We still had to go through the motions with our nightly injection. Just to be safe, the doctor asked her not to stop with the shot. So, we went out to dinner, enjoyed ourselves, and desperately tried not to pay any attention to the thought of having a child until the following week. We were both fairly good actors all weekend.

Monday morning I could not decide whether I wanted to stay or go. Jaymee was getting ready to leave for the doctor’s office and for some reason I could not commit. I had a lot of work to do but at the same time, wanted to be there for her.

“It’s only a blood test. We won’t have the results until later today. You really don’t have to go.” I went to work and the further the day went, the busier I became. When the phone rang instinct took over and I grabbed it.

“Honey?” it was Jaymee.

“We are going to have a son.” Our dreams had come true.

Every day of Jaymee’s pregnancy was better than the day before. For me at least. She began to show, have odd and strange cravings, and around four months in decided that sleep was better than anything in the world. I was excited by the opportunity that our life together had granted us. While I may always be slowed by my disorder the idea that a child of my own would be a reality still seems foreign to me today. It is as difficult to believe today that I am a father as it was the day I fully understood the risks associated with becoming one naturally. I suppose that’s the way life is. Unexpected turns are right around the corner. One never really knows what tomorrow might bring.

The day before he got here I received a call from a lifelong friend.

“This will easily be the most sublime experience of your life David.” my friend’s words came forth with a straightforwardness I had never experienced with him previously. He was the father of four. Two girls and two boys.

“Each one was more miraculous than the one before.”

Sublime. I understood the concept but cannot honestly say that I had ever had a sublime feeling. I was intrigued with the idea of it but quickly dismissed the concept as I was far too preoccupied to even consider it.

The following morning w went to see Jayme’s doctor for a progress report. It was the end of March and my wife had a dire concern.

“I really don’t want our son to be born on April Fool’s Day. His last name is Cry. To have him enter the world on a fool’s holiday on top of that would just be cruel.” The doctor nodded in my direction and only found me smiling.

While he sympathized with her thoughts he wasn’t sure whether or not she was ready. He was growingly convinced that Jaymee would need to be induced he just wasn’t sure when. After leaving the doctor we went home and had a quick bite to eat. A few minutes later the phone rang. It was time.

We grabbed Jaymee’s overnight bag and left for the hospital. The plan was to begin administering medication intravenously at three in the afternoon with the hope that our son would join us sometime during the middle of the night. Things did not exactly turn out that way.

I called my Mom and Dad in Louisiana and they left immediately. It was a twelve hour drive and they wanted to do all they could to get here before he did.

The pains began at four-thirty and lasted all night. I camped out in a chair next to Jaymee’s bed and woke up every twenty minutes when a nurse came in to check on her. I was nervous. She was in pain. It was a difficult few hours but we were there for one another every step of the way.

The doctor popped in the following morning. The problem was, despite the drugs, Jaymee was not dilating. As the day wore on, he added to the amount of medicine she received and finally at noon she began to start having significant contractions. About ten minutes into the show there was a knock on the door. My Mom and Dad arrived. I was happy to see them but a bit busy. We could always exchange pleasantries later.

The doctor explained just after one o’clock that he wasn’t coming. He couldn’t. Jaymee’s cervix was just too narrow. For the previous twenty minutes I could see the top of my son’s head. I could see hair. The tone of his skin. I just couldn’t see him. The doctor picked up a suction device, showed it to the both of us, and then explained that this is what would be used to extract our son into the world. I didn’t argue. I just wanted to see him.

At 1:29 p.m. on Saturday March 29, 2008, Brennan Andrew Cry arrived in this world. When he got here he did not cry. He was taken straight away, cleaned up, and placed on my wife’s chest where he simply looked up at both of us and smiled. It was the most unforgettable experience of my life.

Shortly after he was born, I was asked by my wife to run down to the hospital parking lot to let her family know where we were. I climbed onto my motorized scooter to run out to my car and looked back to see my wife, son, Mom, and Dad all happy. It had been a good day.

Just after getting to the car I stood and began to reach out for the handle and it hit me. A wave of emotion overcame me and I suddenly realized that what I had just done was the single most important thing I will ever accomplish in my lifetime. There is nothing that can possibly touch becoming a father. It was at that moment that I realized my place in the world in a way I never had before. For almost eight years I had been helping families deal with the plight of a disease that is a parent’s worst nightmare. I had assisted many of them from the day of diagnosis until the day their sons left the world. It was not until that moment though that I could conceive of what I had been doing and what the consequences they faced were until I had a child of my own. My very own flesh and blood being a part of the world was the catalyst I needed to ensure that the families I now consult are treated with humanity beyond compare.

Brennan is now nineteen months old. When he was three months old my wife went back to work. Rather than placing him in daycare we decided that the best option was for him to be with Dad all day. I run the foundation from an office at home and each day have the opportunity to bond with my son in a way that has made many male fiends resent my ability to do so. Every day we have the chance to grow together, learn from one another, and become father and son in a rare but meaningful way.

All I can say to anyone considering the opportunity that has been made available through Dr. Marcus Hughes and Genesis Genetics is this: Take each day as though it is your only. Cherish one another in ways you never knew you were capable of. Make the love that you share your priority and the journey you are about to embark upon will be rewarding beyond comprehension. Looking back, in many ways what we experienced was unremarkable. After some time we were just another couple having a baby. Our motivations got lost in the idea that we were going to be beholden to another life for the rest of ours. I can honestly say that what we went through rivals every positive I have achieved during my lifetime.

I am a Dad. What more could I ever ask for?

– David Cry

To learn more about ALD, visit The Adrenoleukodystrophy Foundation

 

Genetic Counseling: Family History Risk Assessment

One of our Molecular Biologists—Eric Czuprenski authored an article with Rosanne Keep, MS, CGC from Abington Reproductive Medicine in Pennsylvania and Sarah Keilman, MS CGC. The article Genetic Counseling: Family History Risk Assessment is to educate nurses about the importance of taking a thorough family history. It was published in the journal, The OB/GYN and Infertility Nurse which is the official publication of the American Academy of OB/GYN and Infertility Nurses. Download the PDF »

About Us

Genesis Genetics is the pioneer of preimplantation testing of embryos for inherited genetic abnormalities, and was founded by world renowned scientists largely responsible for discovering preimplantation genetic diagnosis (PGD) as a clinical practice and performed the first successful cases in the world.

 

Contact Genesis Genetics

London Biosciences Innovation Centre
London NW1 0NH
Phone: +44 (0)20 7691 2084
Email: ggeulab1@genesisgenetics.org
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