Patient Odyssey-Anonymous

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Patient Odyssey-Anonymous

March 07, 2011

Our story began about 4 years ago, in all likelihood similar to those couples who ultimately end up seeking help from a fertility specialist.  I had just turned 36 years old and was very happily married.  My husband and I decided to put our triathlon ambitions to the side and start a family. We naively assumed after I stopped birth control pills, we would start trying and would conceive shortly after. After all, we were just in our mid 30s’ and had no underlying health issues.  Unfortunately, a few months later, I was still not having normal menstrual cycles.  But of even greater concern, we received the devastating news that both my husband and I were carriers of a rare form of muscular dystrophy, and our odds of having an affected child would be 25%. 

And so began our emotional and medical “journey”.  Through many conversations, my husband and I recognized that conceiving our own child was a dream that we were not yet ready to concede.  We also wanted to explore any possibility that would allow us to conceive an un-affected child after having seen how my niece’s life was affected by severe muscular dystrophy.  We realized that we would need to seek out the best fertility specialist possible, and thus we found our way to Dr. Givens at Pacific Fertility Center. 

As a physician myself, I had done extensive research on fertility specialists and centers and was hoping that Dr. Givens would be able to help us.  Her credentials were outstanding and were exactly what we sought – a fertility expert specializing in advanced maternal age/decreased ovarian reserve and in PGD (prenatal genetic diagnosis).  After our first meeting with her, I knew that we had made the right choice.  Dr. Givens was extremely knowledgeable, professional and most importantly caring.  She understood that this was a very challenging fertility case, but embraced the chance to help us rather than tell us we should look into adoption.

With Dr. Givens help we were able to set up PGD through a planned IVF cycle.  This treatment plan required a great deal of coordination between Dr. Givens, PFC’s dedicated staff and California Pacific Medical Center’s genetic counselor Laurie Black.  It required months of patience as we waited for “probes” to be built by the PGD center and for the IVF cycle timing to be optimized.  Unfortunately, our first PGD-IVF cycle ended in an early miscarriage.  Dr. Givens remained optimistic and with some changes in our stimulation IVF protocol and using acupuncture, my husband and I were able to conceive during our 2nd PGD-IVF attempt. We were thrilled!! As the months went by and my belly grew, we became increasingly excited that we were indeed going to be able to have our own unaffected child! About 38 weeks later we gave birth to our beautiful healthy daughter – a gift that words cannot express, as I believe all parents can attest to.  The extreme gratitude that we felt for Dr. Given’s help, perseverance and care during this journey can not quite be expressed in words.  Without her expertise and belief in a successful outcome, we would never have been able to conceive a child.

Within 6 months of having delivered, my husband and I approached Dr. Givens and told her how happy we were as parents and how much we would love to attempt having a second child to complete our family.  We assumed that we would be able to conceive just as we had the first time, as I was only a little bit older.  Again, I was proven naïve.  I had not realized that even 1-2 years could affect my ovarian reserve as much as we soon discovered.  The stimulation protocol we had used with our first daughter’s conception, this time produced only ½ the amount of follicles and eggs.  The quality of the embryos was also clearly less. We attempted 3 additional cycles: a frozen cycle (we had one embryo left from our initial attempt) and 2 fresh cycles. Quite tragically, we felt, we lost the second conception at around 6 weeks and then lost a twin pregnancy at around 8 weeks. The loss of miscarriage is indescribable. We realized that from a financial standpoint, we would not be able to continue attempts at IVF indefinitely.

Again, Dr. Givens advice was instrumental in helping us through this difficult time.  She expressed concern that our miscarriages were from poor quality embryos (genetic trisomy/monosomy/etc) and not from my own inability to carry a pregnancy.  She recommended that we give consideration to doing full aneuploidy screening of our embryos in addition to PGD – something that had only recently been medically possible.  Thanks to her expertise and connections with other experts in the field, we were enrolled in a clinical trial with GSN.  They were able to build probes again for our specific muscular dystrophy mutation and offer aneuploidy testing on all of our embryos.  We subsequently did our last fresh IVF cycle, this time with both PGD and full aneuploidy screening. We had a total of 10 embryos and only 1 was identified as being unaffected and with a full set of chromosomes.  We prayed that this sole embryo would implant – quite skeptical admittedly given that only one was transferred and with our daughter’s conception we had put in more.  Our prayers were answered!  We are now 30 weeks pregnant and additional testing done via amniocentesis has confirmed all of the PGD/aneuploidy test results.  My husband, daughter and I are all eagerly awaiting the birth of our second daughter in early February.

I hope that our story helps those out there who may have felt any of the things we experienced in our journey to create a family.  I learned not only to “never give up” on a dream, but that being cared for by someone like Dr. Givens is the only way for such a dream to become a reality.

-Anonymous

Update: On January 27th, 2011, our patient, the fist at PFC to undergo embryo biopsy for both genetic disease risk and chromosome analysis, gave birth to a healthy baby girl.  She weighed in at 6 lbs., 6 oz. and was 19 3/4" long.  Congratulations to everyone involved in this success story!