IVF and CDH1

*** NOTE: this is a sensitive topic to discuss publicly; however, I have seen some questions revolving around IVF and CDH1 so I decided to move it from a private post to a public post. IVF is a VERY personal choice, I do not intend to offend anyone with this post. It is purely educational for those curious about pursuing it ***

If you have needle phobia, this will cure it for sure.  Between blood work and self administering the medication to grow and retrieve the eggs – there are a lot of needles.  But it’s no biggie. Nothing compared to the process of getting your stomach removed.

Brandon and I had many, many, many conversations with each other and health care professional, family, and friends prior to deciding try IVF to prevent passing the gene down to for our future children.  It is a big personal choice and I hope not to offend anyone by choosing this route.   It was a difficult decision to discuss this openly online as well but in true Rachel fashion, I love to educate and help others, so ultimately I decided to blog about it for all those wondering about IVF.

In June of 2016 we met up with a fertility clinic in Toronto which we were referred to by our genetic counsellor.   This would be the 2nd time coming to this clinic as the first time was before having my gastrectomy.  At that time, the discussion was about preserving eggs in the event cancer was found during the surgery and I was required to go through chemo and radiation.

In June, we found out that we would be covered for a funded cycle for IVF  but would be placed on a waiting list.  Our date was October 2017.  Late Dec 2016 we were contacted by the clinic with an opportunity to bump it up.  We took it.

We met back up with the clinic in Jan 2017 to get the ball rolling with creating the genetic probe to screen for CDH1 in our embryos.   This is not available in Canada from what I know so the fertility clinic I attend partnered with a lab in Michigan to create the probe. This lab is called Genesis. Unfortunately, this genetic test creation and test is not covered in the funded cycle but we were prepared.

Genesis sent us a kit to collect DNA samples from my mom, dad as well as Brandon and myself.  The goal was to create a genetic marker that contained the code for the mutated CDH1 gene as well as be sure the baby receives got my dad’s copy. The whole thing is pretty complex so I’ll spare you all the details but you can Google, “pre-genetic diagnosis and screening” and learn about the process.

It took about a month or so to have the probe created. It was completed the 2nd week of February.   At this point I was good to go to start the IVF process.

I had to wait until the 1st day of my period prior to starting my cycle.  We were eager to start in Feb but my period never came. Figures…when you want it, it doesn’t come and  vice versa.

I learned through this process that I have polycystic ovarian syndrome which means my body doesn’t release an egg monthly. This would explain my irregular periods throughout my lifetime.

In March aunt flow decided to show up and we were off to the races.

I had to complete an ovarian reserve test which is an internal ultrasound to count the number of follicles in my ovaries.  The doctor started counting and said there was too many to count but ultimately she said over 30.  The average amount for someone my age was around 15.  I was in good shape.

What that meant though was that I was at risk for having ovarian hyperstimulation from the drugs.

I also had to complete a hysteroscopy. This is a quick 10 to 15 minute procedure where your fallopian tunes and uterus is flushed with water to make sure everything is clear.  Thankfully, I was clear.  The procedure wasn’t too painful. Just a sharp cramping sensation for a minute or less was the worst part.  I was clear and good to go!

On March 28th, Brandon and I signed a series of consent forms and then learned how to do all the medication injections. These are all done subcutaneously (abdomen, or upper thigh). On April the 2nd, the real fun began, I started egg stimulation. Every night I administered two needles – Gonal F and Luveris.  Brandon helped me with the Luveris as it involved mixing and I was not good at it.  These injections occurred from the 2nd until the 8th.  On the evening of the 8th, a third needle Orgalutron was added.  This needle prevented the eggs from being released prematurely.


Meds for a few days

Generally I handled the hyperstimulation well. Near April 9th, I started to feel more fullness in my ovaries. More on the left than the right.  It also felt a little worse after eating.  Around April 13th, I started to get a little short of breath when walking up hills.

During this stimulation period, I was monitored closely.  This meant frequent trips to Toronto. The monitoring was pretty quick and painless. Blood work and ultrasound followed by a meeting with the  nurse who educated us on how to proceed with the medication.  Thankfully, Brandon was able to drive me to most of them so we would grab some eats before heading back home.  The round trip was about 4 hours.  Most of the time I was on my way home before my regular wake up time!  I had to go back on the 6th, 8th, and 11th.  After each appointment, I continued to work. Needless to say, it was a long and tiring work week.


Injection time

Egg retrieval was on the 14th of April. Good Friday. This is also the day conception happened for potentially all my future children.  On the evening of the 12th, I took  only ONE shot called suprefact which triggers the follicles to be released.  I was back to Toronto the next morning for blood work to ensure the shot was successful.  The blood work needle was the only one that day.  The evening of the 13th was needle free. Hooray!


Egg retrieval day

Egg retrieval was painful but necessary. A little pain for a long term gain.  By the end of Thursday I felt a lot of pressure and fullness in my abdomen from my ovaries. I also couldn’t walk fast without getting short of breath.  It was time to get these follicles out!

I was sedated mildly with a drug to make you sleepy as well as a pain killer. That being said, a needled is passed through the vagina into the ovaries to extract the eggs.  It wasn’t very fun and something I don’t really want to repeat.  Brandon got to come in as well to watch.  After all, this is how our kids are being created.

After the procedure was completed, I went back to a recovery room and slept a little. I had to wait there until I could urinate.  Then it was home time.  Once I got home, the pain from the procedure became more intense and I required some Tylenol.   I also slept off and on the rest of the evening.

The day after the egg retrieval, I was extremely bloated and had a lot of cramping.  It was hard to do transitional movements and difficult to take deep breaths.  It reminded me of what it felt like when my incision was healing post surgery.  To a much lesser degree though but still uncomfortable.  I spent the majority of the day relaxing and eating salty foods.  I think I was developing mild ovarian hyperstimulation syndrome.  It is recommended by doctors to eat salty foods to try get the fluid to leave your abdomen and go back into your bloodstream.  Needless to say, I spent the whole day eating as much salt as I could (salted peanuts, rice crackers, campbells soup).  I also took Tylenol throughout the day the assist with the pain.  I weighed 121.4lbs.  This is the most I’ve ever weighed post gastrectomy; however, it was all fluid weight.  By Wednesday, I had lost much of the weight and was down to 118.5lbs.  I also lost 4cm of abdominal girth due to all the retained fluid in my abdomen.


No, I’m not pregnant. The bloat was real

The day after egg retrieval I started a medication called prometrium.  This is taken 2x a day for 14 days.  It is a progesterone capsule that helped to get my period and cycle back on track.

In terms of the egg retrieval, I felt ill prepared and did not realize that it would take such a toll on my body.  I am glad that it occurred on a Friday so I didn’t need to miss any work. My advice to people doing this in the future, is to take a couple days off work after the retrieval if you are at risk for OHSS.  The after effects were not very fun.

Then the wait game began.  It takes five days to see which eggs survive to the Blastocysts stage which is the stage required to be biopsied and tested for the gene.  During the testing phase, the blastocysts are frozen while the samples are sent to Genesis to be screened. This may take up to four weeks.

On April the 15th (Day 2), I received a call from the embryologist that of 18 eggs retrieved, 17 were mature enough to be fertilized and 15 were successfully fertilized.  Yay!  The  more the better because there will be a bigger pool to test as 50% of them will be positive for CDH1.

After I received this phone call, I started thinking about those 15 fertilized eggs and that they could potentially be babies. That was a sad thought that I would be eventually discarding the ones that make it to day 5 but test positive for the gene.  I wouldn’t be here if this was the choice given to my parents.

On April the 20th (Day 6), I received a call that only 6 fertilized eggs developed enough to be biopsied.   These biopsies were sent to Genesis. We had to wait 2-3 weeks for the test results.  At this point, both of us were crossing our fingers and toes that we would get at least a few that were negative so we wouldn’t have to make decision if I was to repeat the cycle.

On May 2nd, 2017, I received a voicemail from the genetic counsellor that my test results were in and to call her back. I immediately called her only to find out that of the 6 that were tested….5 had the gene mutation and the one that didn’t, was chromosomally abnormal and would have resulted in a miscarriage if implanted.   I was shocked because the odds were 50/50 based on stats for inheriting the mutation but we were 83% positive for the mutation.  Hearing the news was difficult but the logical side of me started to think about what were the next steps.  Going through it once was physically, emotionally and financially stressful.  I also had to repeat this information to Brandon. That was equally difficult. No one prepares you for this.

We were pretty hopeful that we would have had at least a couple of embroys to transfer; however, we were left with nothing.  This is why you test right?

As mentioned earlier, it was difficult to decide whether or not to pursue IVF for our future children.  Now we are faced with the decision…do we try again?  That’s a whole blog discussion on it’s own and I’ll spare you the details (On a side note, for those who are interested in discussing it, please send me an email).  I’m a big believer that the universe works in mysterious ways and although the reason may not be clear now, it will become clear in time.  There are pros and cons to both and there is no RIGHT answer.  There’s not even the most right answer.

I will leave a few for anyone trying to decide what to do:

  1. Be patient and don’t expect anything.  Just go with the flow.
  2. Be prepared to take time off work for appointments as well as any side effects from the medications/egg retrieval.  Although the whole monitoring process is only around twoish weeks, you are making visits to the clinic almost every other day.
  3. Investigate your insurance coverage options.  We were fortunate to have one cycle funded; however, our insurance did not cover any of the medications, genetic testing, or probe creation.

Yet another experience to add to the CDH1+ adventure log.