Can love, courage and modern medical technology prevent muscular dystrophy from being passed on to the next generation?
It was the worst Monday morning of our lives — and Mondays are universally bad.
My wife, Monique, and I woke up to a snow lockdown in London. The snow had started gently enough in the evening, but now on this January morning it was a white strait jacket. We could hardly move, but we desperately needed to get to Nottingham at all costs. Our potential future children — two fertilized and rapidly growing embryos — lay in wait for us in a Nottingham fertility clinic almost three hours away by train.
These two embryos were the result of over a year of financial saving, mega-planning and emotional see-sawing. This was our second attempt at preimplantation genetic diagnosis (PGD). Our first had ended in disaster.
To my wife
Thanks for loving me and accepting me the way I am.
When I first shared with you that I had FSHD, you embraced me and told me that you loved me unconditionally. When we got married, I promised you we would try to have a family without FSHD.
We tried ... and failed.
I will be the best Dad, and the most loving husband I can possibly be.
I am forever your love.
I come from a family that has been hit hard by muscular dystrophy. The genetic fault is on my father’s side of the family, affecting my brother and sister, although my father himself didn’t manifest the typical facioscapulohumeral muscular dystrophy (FSHD) symptoms of progressive weakness starting in the muscles of the face, shoulders and upper arms. I have had such symptoms since age 18.
Our journey with PGD started in 2006, in my hometown of Johannesburg, South Africa. I was watching an international news broadcast, when a life-changing message traveled across the screen: “Breakthrough treatment allows genetic defects to be identified in embryos.”
“It’s called PGD,” I explained to Monique, enlightened with this new and powerful acronym. It meant that we could have a baby without my passing on FSHD. We embraced and looked immediately to discover what preimplantation genetic diagnosis could do for us.
Our doctor sent us to the Donald Gordon Medical Centre in Johannesburg for genetic consultation. There, the bespectacled Professor Amanda Krause laddered her way down our dynasties in a genetic hunt. The next step was to send my blood for DNA analysis. The results showed that, as is typical in FSHD, my genetic flaw resided on my fourth chromosome.
With all this information in hand, my wife’s and my immediate family’s bloods were sent on another fact-finding expedition. This time, the ampules flew to Genesis Genetics Institute in Detroit, Mich., where our personal family genetic marker was made by geneticist Mark Hughes and his squad. This marker would be the key to identifying genetic defects in our embryos.
Prof. Krause told us about another couple who had attempted PGD at the fertility clinic in Nottingham, England. They were willing to discuss their experiences with us, even after experiencing a miscarriage. But when I called, my excitement for the PGD process baldly contrasted with the husband’s recent loss and weariness.
“Hiya doing. It is great to chat,” I said after introducing myself and the reason for my call.
“What do you need to know about PGD,” he replied curtly.
“How long did you stay in Nottingham, and what is there to see and do there?”
“Oh, OK — that long?” The touristy part of my question went unanswered. I continued:
“Where did you stay?”
“In a hotel. We rented a car. But mostly you need to stay put and look after your wife — because of all the drugs. It’s not a holiday.”
I was starting to get his message. I didn’t have a clue about what lay ahead for Monique and me. Our mismatched conversation continued.
“So how often do you go to the clinic?”
“Every day. When you arrive in the morning they check your wife’s eggs. She takes her daily fertility injections.”
“Wow. I never really thought about the injections.”
“It is just like IVF [in vitro fertilization]. Except with PGD they — the embryologists — check the embryos at three days old to see if the genetic flaw is carried over. The results take another three days. Then they implant the healthy embryos — if you have any. Then the wait …”
His voice choked. I could hear a muffled whimper. “Then the wait for signs of pregnancy,” he continued.
“Does that wait happen in Nottingham?”
“No. A few days after the implant you return home.”
“Would you do it again? I mean … is it something that you and your wife would seriously re-attempt?”
“Yes. We have to. We have no choice.”
“OK, thanks for your time. It was …” I could hear the phone hang up.
This conversation would come back to haunt me after our first attempt at PGD. We also lost our pregnancy after our initial treatment. Nothing can prepare you for a loss in this way. A piece of you dies.
Shock is watching the gynecologist desperately looking for signs of your 9-week-old fetus’ heartbeat … until you realize that there is no heartbeat any more.
Knife-piercing shock is hearing that Monique must have a procedure that afternoon in order to remove the still fetus.
Helplessness is watching Monique lying curled up on the couch, her body jolting from grief.
Anger is cursing the world that made this pain a reality.
Only on reflection, during these horrible times, could we understand the journey that the man on the other side of the phone had endured.
But like him, we also needed to continue with PGD. We also had no choice. We wanted our baby to be healthy.
So there we were, trapped in London by snow and time was running out on our second PGD attempt.
A day before the implantation, we had gone to London to watch a show and stay the night. Our plan was to return to the clinic in Nottingham in the morning to have our embryos implanted and then fly home to Johannesburg later that night and wait for signs of pregnancy (it is ideal not to travel for a few days after the embryos are implanted, but we had booked our flights over a month in advance and our timing was incorrect). But now snow had frozen the United Kingdom transport system.
The blizzard had stripped the roads of traffic and no black taxi cabs were running. We turned left from the hotel at 5:45 a.m. and headed toward the London Underground (subway) on foot. A wall of snow blocked our progress.
I looked over to Monique, buried under a scarf but still resilient. “We must push on,” I said. She gave me a steely look. Nothing was going to separate Monique’s motherhood instincts from her embryo “hatchlings” back at CARE Fertility in Nottingham.
From the underground, we were able to make our way to a major railway station, St. Pancras. The storm picked up in intensity. At St. Pancras, we found that one train was leaving to Nottingham in five minutes. We paid and sprinted to the landing.
On the train we got a phone call from the clinic informing us that one of our two embryos was not developing properly, and that we would need to decide if we wanted to implant the remaining embryo.
I soothed Monique as the train slunk out of London.
In Nottingham, we found a brave cab driver who had come to the station looking for fares. He said we were lucky to get a lift today. Monique and I nodded and proclaimed that we were thankful to get a lift to the clinic.
At the clinic we had a consultation with the doctor and decided to implant one embryo.
It is not often that two super events occur so close to one another. Super event one: The embryologist showed us our cute embryo on a big screen. Our long journey was about this lovely moment. The doctor readied the tube into the womb and the embryologist made her way from the back room with our embryo.
Super event two: We watched on the sonar screen as the embryo was injected into Monique’s womb.
To my wife
You are a brave woman.
The injections you took every day were an act of love.
Watching our embryo on the screen before it was implanted in your womb was incredibly emotional.
I am proud and thankful that you chose to share your life with me.
From your greatest admirer,
February is particularly balmy in Johannesburg. London’s snow felt like it was a million miles away. Monique and I sat alongside each other in the bathroom. We felt like an old couple. She pulled out the pregnancy kit and followed the instructions. It had been about one month since returning from London. Armed with our experience, we knew this was a day-by-day process and happiness could be wrenched away in a moment.
We watched the pregnancy test strip for 10 minutes, wanting to see a blue line indicating a pregnancy. A faint line appeared. We slumped to the floor and hugged each other, emotionally fatigued. What does a faint line mean?
The next day we did a blood test to confirm the result. Technically, we had been pregnant, but the numbers showed that we were no longer pregnant. Monique cried through the night and into the morning, inconsolable.
We decided to take a break from PGD, due to its expense both emotionally and physically.
Although we were “being careful,” more than a year-and-a-half later — on September 22, 2010 — another super event occurred: Our son Sven was born. He weighed 3.8 kilograms (8.4 pounds) and was the result of a natural conception and pregnancy.
When Sven was an 11-week-old fetus, we did CVS (chorionic villus sampling, a procedure similar to amniocentesis) and got an early genetic result.
Sven will be like his dad, like me, with FSHD.
If he can find a wife as loving as mine, he will be as blessed as I have been.
To my son
Keep strong, my son.
Living with FSHD is not a jail sentence; it is rather a journey of self-discovery.
Revel in the joys that your body can muster.
Suck out the marrow of life.
Love will flow to you in abundance if you put love into the world.
We love you unconditionally.
Eugéne Etsebeth and his wife, Monique, live in Johannesburg, South Africa, where he is a senior business analyst for a software development company and finishing up a master’s in business administration. He reports, “Sven is very close to crawling. He has a wonderful chuckle and a smile that has the ability to win hearts over. PGD can now be done in Johannesburg, so we have an unspoken agreement to enter the emotional lottery for our second child.” Etsebeth wrote Am I Disabled or Aren’t I Disabled? for Quest in April 2009.
It used to be that the only way to ensure that a genetic disease was not passed along to the next generation was to not have any children, or to terminate a pregnancy if a prenatal test indicated the presence of the disease. Preimplantation genetic diagnosis (PGD) offers those with a genetic disease, or disease carriers, another option.
With PGD, embryos are created through in vitro fertilization (IVF) and then checked for specific genetic flaws. Only embryos without these genetic flaws are transferred into the mother’s womb.
However, even with a successful IVF and PGD procedure, pregnancy is not guaranteed after transfer, nor is a term or near-term delivery. There also is no guarantee the baby won’t have a genetic flaw different from the one for which he/she was screened.
As with all family-planning decisions, PGD is a highly personal choice. It is expensive and not without risks to the mother. Some believe that no fertilized egg should be discarded, no matter its genetic makeup or stage of development. Others find it offensive to try to avoid having a child with a disease, arguing that it implies that life with a disability doesn’t have value.
Some bioethicists voice concerns about the use of PGD technology, citing the slippery slope between selecting embryos free of genes that cause serious disease and selecting embryos that meet parents’ desire for a child of a particular gender, intelligence or attractiveness.
PGD technology continues to be refined and the outcomes of PGD pregnancies studied. Experts recommend consulting with a genetic counselor prior to deciding to pursue the procedure, and to utilize well-established fertility centers experienced with micromanipulation.
To learn more about the use of PGD in neuromuscular disease, see The Pain and Promise of Prenatal and Newborn Genetic Diagnosis (Quest, July-August 2007).