I just joined a support group for third party reproduction and had to introduce myself. Thought I’d kill two birds with one stone by re-posting an expanded version here. It’ll explain what’s going on to long-time readers, but also bring new readers up to speed. Sorry for the long post. I considered breaking it up across two posts, but thought that would be confusing. So I’ve broken it into sections.
To Recap
In August, I was diagnosed with Diminished Ovarian Reserve (AMH 0.17, FSH 12.3, E2 46, AFC 3+3) and it was recommended we proceed straight to IVF.
Tuesday 10th September
First consultation with IVF guru, Dr. D. Literally on the way, I learned my grandmother was in a coma and dying. That was weird: was she making way for new life? Due to my barely detectable AMH, Dr. D wanted my blood tested for Fragile X and general karyotyping.
Friday 13th September
I gave eight vials of blood, Aunt Flo showed, and my grandmother died. That was a fucking fun day.
London
Sunday 15th September
Flew to London. Although my dad knows about IVF, I vow not to tell my mum, step-dad, brother, as they are not likely to be able to give me the kind of support I need. I would feel okay telling my sister except that she’s only 21 and might feel uncomfortable knowing when the rest of her family does not. I plan to laugh off intrusive questions about acupuncture, diet, supplements, lack of alcohol and caffeine with This is what happens when you move to California…
Tuesday 17th September
My mother questions my new lifestyle but buys the “Gone Californian” spiel with a knowing roll of the eyes.
Wednesday 18th September
Out of the blue, prompted by nothing, my sister announces she’d like to be an egg donor for no other reason than she “would like to be able to help someone.” Somehow I managed not to lose my composure. When asked, I say, Yes, I know something about it because ahem a friend did it and explain that it would be a very invasive and time-consuming process. My mother thinks the idea of donating eggs to a stranger is ridiculous and says “Maybe you’d do it for your sister… But Laurie doesn’t need your eggs!” Oh how little ye know, mother… Because at that moment, I had the thought, This is too uncanny. This can only be the universe telling me I will need donor eggs.
Friday 20th September
Good news! DH’s sperm is fantastic! Phew, that’s a, er, load off our minds… Meet with the lovely Lisette of Project Sweet Pea who is funny, sensitive, and also curses like a sailor: I’m in excellent company! What is supposed to be lunch turns into a 6-hour-long conversation about the minefield that is loss and infertility. She is a much-needed outlet during a time when I have to keep my feelings in check, and it’s probably thanks to her that I am able to keep my shit together away from DH.
Tuesday 24th September
Grandmother’s funeral. Although I will miss her, I am not sad. I am philosophical. She lived a long and good life. That’s how it should be! I read a passage from the bible at the service and for the first time feel as though I am speaking to god directly as a non-believer. We celebrate her life. I kiss her coffin and whisper thank you. She’s left me enough money to pay for IVF. Gratitude and thanks don’t begin to sum it up. I feel so lucky, knowing that there are many couples who can’t afford IVF. This help from beyond the grave gives me goosebumps. It’s as though all along this IVF path is the one I should be walking, and I find comfort in that.
Wednesday 25th September
My bloodwork came back showing that I have an abnormal karyotype. But it is so rare there is almost no information online. We begin to parse data from complicated medical journals. Even DH, who has one of the most brilliant, academic minds I’ve ever known, is having a tough time figuring this shit out. (Of course he still remembers what he learned twenty years ago in high school biology so figures out quite a lot.)
Thursday 26th September
My mum’s birthday. She just lost her mum, so I put on the happy act of the century. This is probably helped by the fact that I met up with the lovely Sadie of My Invincible Spring. It is another great meeting with a fabulously interesting woman. It’s helpful to be able to share my bad news with someone who kindly listens. It gets it out of my system in time for my mum’s birthday dinner. I should probably get an Oscar for the performance I gave. But later, sitting cross-legged and alone late at night, I stare angrily at my thigh and, in a thick irrational cloud of rage and thin disbelief, try to scratch out my fucked up DNA. Three long red welts on the inside of my thigh that slowly become dark bruises that will remind me of my stupidity when they burn as I pull on my jeans the next morning.
Friday 27th September
Share my news of DOR, IVF, abnormal karyotype, and the possibility that it might make more sense to use donor eggs, with my mum and step-dad. They try to push adoption. I explain that adoption is something DH and I have always wanted to do anyway–we just thought it would be in addition to having a bio kid or two. That the experience of pregnancy and childbirth has always been important to me, but after my MMC, more so than ever. That pregnant bellies are still a huge grief trigger. That it was getting better until I kept getting blow after blow of devastating medical news. That carrying my child to term is, I feel, a huge part of my healing process. I also tell them that I will be going on a walk with my sister tomorrow to ask her to consider being an egg donor–if only to rule it out as an option. Mum and step-dad are side-blinded, shocked, but supportive.
Saturday 28th September
Go for a walk with my sister and tell the tale. When I get to the part about our possibly using donor eggs, she interrupts and volunteers to be our donor without my asking. I hug her and thank her, but ask her to think about it. I remind her of the IVF protocol, and how invasive the procedures are, and how disruptive it would be to her life. She just moved to London and would have to come to San Diego at least twice, once for 6 weeks minimum. She’s still on board. I spell out that genetically this would be her child with her brother-in-law and it might be weird. She says “it doesn’t have to be” then adds “it’s a beautiful thing.” I squeeze her hand and give her the letter I wrote that morning in which I remind her that it’s okay to say no, we still have options, that I love her whatever she decides. She reads the letter aloud and we laugh at how terrible my handwriting is. I look at this young woman, my baby sister whose diapers I changed, marvelling (and not for the first time) at what a big-hearted person she is. I am so grateful for my sister.
Monday 30th September
Fly home to San Diego. I have never been so glad to see DH.
Tuesday 1st October
Meeting with the genetic counsellor who confirmed everything DH pieced together. I sit weakly on the sofa trying to understand what she is saying. My mindfulness practice makes me realize I keep tuning out, a coping mechanism I developed as a child when my parents split up and which I haven’t used in almost a decade. At home, DH and I hold each other all afternoon between tears and sleep.
What This All Means
The good news is that almost all of my bloodwork came back normal and I am definitely female (XX) and have 46 chromosomes.
The bad news is that have a very rare genetic disorder–a pericentric inversion of chromosome 8. In layman’s language, as I understand it, this means that a large part of middle section of my chromosome (the 8th largest) is flipped 180 degrees between two break points. So, instead of the chromosome reading ABCDEFG, it reads A-FEDCB-G.
This means I am likely to miscarry over and over and over again. If I did manage to carry to term, such a baby would be severely mentally and physically disabled. Due to my 8th chromosome, they would either have duplications or deletions of genetic material, resulting in something called Recombinant 8 Syndrome. Symptoms include having IQ of 30-70, major heart defects requiring multiple surgeries, bones fusing so the child would never walk. Such children didn’t live past the age of six until 20 years ago. Currently only 50 known families worldwide have the gene. No one in all the worldwide genetic literature has my specific break points. As I inherited this from one of my parents, and assuming two other family members have it too, I am literally one in two billion.
Unfortunately, standard Pre-implantation Genetic Diagnosis (PGD) can’t test for structural abnormalities, it can only count the number of chromosomes. If I were to proceed with IVF using my own eggs, we would have to do a highly specialized (and extremely expensive) form of PGD called micro-array CGH. Unfortunately, this doesn’t improve our odds of transferring a healthy embryo by very much. Potentially this means getting pregnant only to be faced with a horrific decision at 11 weeks (CVS) or 16 weeks (amniocentesis): raise a child who will suffer for his or her short life, or terminate the pregnancy. It would be a horrific decision to make if I were to get pregnant the old-fashioned way, but I’m not sure that’s a decision I want to pay somewhere in the region of $30,000 for.
So, we are probably going to proceed with DEIVF (Donor Egg IVF). Even though for the most part I am okay with having a baby that is not genetically connected to me, DH and I are both saddened that we will never have a genetic child together. I know it’s a loss we will get over quickly, though. I know there is so much more to being a parent than genetics. When we take out the emotions, tally up the cost and weigh the disadvantages to using my own eggs for a vastly reduced predicted success rate with a potentially devastating outcome, using an egg donor is a no-brainer. It’s about the same cost as the regular IVF plus all the extra micro-array testing and has a much higher 70% success rate. It really is a no-brainer.
Our question now is whether we use my sister or an anonymous donor. Both have their advantages and disadvantages, and we will learn more at our second, amended consultation with Dr. D on Tuesday. Technically, my sister is my half-sister. It would be nice to have some genetic link, even though it’s less than a “full” (I’ve always hated that term) sister. But she’s only 21 and lives in the UK with no US health insurance (which I guess she would need if something went wrong). I feel very conflicted about asking her to be ED. It’s not so much about the “weirdness” of having her and my husband’s baby (I got over that quickly) but… I changed her diapers. She’s my baby sister, the closest I’ve come to parenting. What if something goes wrong? What if her fertility is impaired or she gets OHSS? I’m terrified. After all the tiny statistics I keep falling into, I don’t think my fears are irrational. Maybe it’s better to use an anonymous donor who hasn’t been guilt-tripped (however unintentionally) into saying yes, even though that would be way more expensive, and our child wouldn’t definitely be able to know their roots, should that be important to him or her.
October 5th
We have so much to think about it’s sometimes a welcome practical distraction from grief. So DH suggested we go away for the weekend. Although he’d never forgotten our undue date was October 5th, he hadn’t realized that it was tomorrow when he suggested we go away for the weekend. Coincidentally, the only hotel (we prefer the small independent boutique variety to large resorts) we could find in the whole Idyllwild / Palm Springs area at such short notice is called… Hope Springs.
Women before me have said that the build-up to the undue date is worse than the actual day itself. Honestly, I’m not convinced that will be the case for me. There aren’t many women who have kept getting devastating news on top of devastating news and so soon beforehand. I’ll never again be pregnant with our child conceived through making love. It’s hard to accept. I try not to will time travel back to February 8th, the day my Bean died. I don’t want to turn my back on my Bean, but I need to stop thinking about what would have been. Tomorrow is the last day I will do that. Tomorrow is the day I stop counting the weeks.
I am looking forward to escaping with my husband. I am looking forward to starting work on the memorial box I’ve been planning on making for my Bean and all the genetic babies I now know I will never have–a book I will hollow out to hold ultrasound photos, pregnancy tests, a Jizo… I am looking forward to literally and figuratively closing that particular chapter before embarking on the next. Yes, I am looking forward.
Hope Springs, here we come. Hope springs eternal.
So glad to read you are looking forward. Happy endings do come in different shapes & sizes, some of which we never plan or expect. So good that you have tve option of your sis too as ED. You’re so strong & you will get there. Lots of love. xx
Thanks. I’m trying so hard to be okay with the life I never imagined xx
I have 2 questions- (1) couldn’t your sister have the same inversion? And (2) you have it and you seem to be fine… So how does passing one copy to an offspring cause problems? I’m assuming DH doesn’t have it too? And that it’s not dominant, since you don’t have all the problems you listed that go with it? That implies it’s recessive and doesn’t cause problems if there’s only 1 copy? I assume I’m missing something because your doc must know .. I’m just trying to understand (my background is in genetics)
Hi Denise, thanks for your questions!
1) Yes, my sister could have the same inversion and would need to be tested before we could proceed.
2) I’m fine because I have a balanced inversion (I’m “normal” but am a carrier, as is one of my parents). An unbalanced inversion would result in Recombinant 8 Syndrome.
3) As I understand it, it’s not recessive, i.e. it isn’t required that both parents be carriers to be able to pass it on. The fact that I am a carrier is enough to trump DH’s “normal” chromosome. That’s the concern.
Hope that makes sense x
Ok I looked it up- I understand- it is dominant if your balanced chromosome 8 gets a deletion in the particular area, which can happen during meiosis with your egg. And they can figure out via CVS or amnio, apparently, but man, that’s a long time to find out (I was going to do cvs for something that didn’t look right but then miscarried at 13 weeks- finding that out the day of the cvs test.) So that’s scary and awful. Wow. I’m sorry this utter BS has landed in your lap. I want to scream and tear my hair out for you!
Phew! Yes, exactly! I seriously do not have a background in genetics, so am babbling in pidgin with no grasp of vocabulary or syntax…
DH’s analogy was to liken it to Gremlins: it’s okay to have Gizmo around, but if you feed him after midnight, bad things happen. (Or something like that. I never saw the movie.)
When you say you looked it up, may I ask where? I’d love to do more reading.
If I actually pulled out hair each time I felt like it, I would have been bald by the end of April. I’ve sprouted a few nice white hairs this year. Got highlights. Because I’m not pregnant and can, dammit.
Oh, and if you or your colleagues ever need someone with a balanced pericentric inversion of chromosome 8 to figure some shit out, look me up… I might consider being a guinea pig for the greater good of my minority.
I literally just googled ‘recombinant 8 syndrome’ and chose the NIH site (http://ghr.nlm.nih.gov/condition/recombinant-8-syndrome) because it seemed reliable. Youv’e probably already seen it too. The parts I pulled out include:
(1) This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder.(this is the part that says it’s dominant, not recessive, which means only 1 copy of the defective gene causes the problem. Most things are recessive meaning you usually need to inherit defects from both parents. So dominant SUCKS for bad things. However you probably only have one of these chromosomes? so you’d have a 50% risk of passing it to an egg, and 50% of not passing it, assuming the other chromosome 8 is normal.
(2) Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. (this is what you must have. You have an inversion, but see next sentences): An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Genetic material is typically not lost as a result of this inversion in chromosome 8, so people usually do not have any related health problems. (this is what balanced means- your chromosomal DNA is all there, it’s just in a funky position because a big chunk got cut out, and then put back in. This can happen due to defective DNA repair during meiosis- gamete DNA copying and cell division, or mitosis- non-gametic (non sex cell) DNA copying and cell division. In meiosis is a bad time because that’s how you can transmit stuff to offspring. In mitotic cells, things aren’t so bad for offspring, but can be bad for the person who has it, because defective DNA repair in any person can lead to a tumor. To be clear this isn’t a problem with you specifically, unless this gene is linked to defective DNA repair or cell cycle control- it’s a problem with normal defective DNA repair that happens in everyone, and more so as we age, or are affected by UV rays, or x-rays, or chemicals, etc.)
(3) However, genetic material can be lost or duplicated when inversions are being passed to the next generation. People with this chromosome 8 inversion are at of risk having a child with recombinant 8 syndrome. (this is the part where your balanced chromosome scrambling could be passed to your gamete- your egg cell. If it were passed with NO changes, the gamete would be fine- it would be just like you- a carrier w/a balanced chromosomal translocation. The risk however is that during meiosis, all the chromosomes line up and exchange genetic material. This is where scrambling of the region on chr 8 could occur. Apparently this is the danger zone and your balanced translocation could become a deletion or duplication. This comes back to the DNA repair process again- repeated DNA sequences, and inversions, and duplications are hard for DNA repair enzymes to manage and mistakes are more likely to happen here. It’s during this time that pieces coudl be lost, which would give the unbalanced chromosome 8 piece that could cause the disorder.
(4) there are a few more links at the bottom but as you noted, not a whole lot is known.
Lasty- it’s funny you said that about testing- I actuall ythought about that and considered saying that maybe a researcher would pay for some IVF or soemthing to look at your gametes for research, but I was afraid that would be a hurtful comment. Since you mentioned it yourself, then I assume it’s not hurtful! But I did think how cool it could be if someone studying this coudl help you out (i’m not a medical researcher and can’t unfortunately!)
Yes, I had seen that link, one of the few reliable ones out there. Good to have your take on it too, though! You seem to be interested, so I will share a bit more info with you than I would normally go into in a blog post.
1)
Our genetic counsellor thought a 5-10% risk was more probable. Typically, seeing as there is no history in the family of mental retardation, the risk would be closer to 1%. There is no one in all genetic literature with my exact break points, but there is someone who has similar, albeit smaller, breakpoints. As that person had a Recombinant 8 (R8) child, our genetic counsellor felt that the typical 1% risk didn’t apply, and that it would be better to err on the more conservative standard 5-10% risk (based on families with R8 offspring).We misunderstood our risk. The 5-10% refers to making it full-term. As I wrote in this post, I am unlikely to ever get to that point, my anaology being, How do I cross the finish line (with 5-10%) if I can’t get out of the stable (my genes will make me miscarry over and over again).(2) Yes, I have a pericentric inversion. It is large, which means although I am at a greater risk for miscarriage, I am, frighteningly, more likely to carry an R8 child to term. Even with bespoke pre-genetic screening (PGS) I would still need to do amniocentesis at 16 weeks.
How do I know if I have mitotic cells or at greater risk for tumours??
(3) Yes, this is our understanding, also confirmed by the genetic counsellor.
(4) Ha! I’m tickled that you thought of this too. I’m rather hoping that the PGS lab will cut me a deal based on the fact that I am currently the Only Person In The Entire World who is 46,XX,inv(8)(p21.1q23.14)!!!
Do you hear yourself? You are amazing! Having been dealt such a cruel hand by the universe you, in the brief period of 10 days or so, have already begun to identify blessings and signs of hope and love in life. Your positivity and hopefulness brings me to tears. You are truly an inspiration to us all Lauren.
Our 6-hour lunch was so cathartic and insightful for me, your support so welcome. I had FUN. A rare unusual occurrence these days. So thank you. I hope this weekend you find peace. Thinking of you all day today xxx
Ah, sometimes when you’re heart is broken, there’s nothing left to break, so we try to rebuild. Bless you for your kindnesses.
I had fun too. We should Skype sometime. xxx
I’m just catching up with your blog after a bit of an internet hiatus, and my heart goes out to you. Sounds like you’ve been on such a rollercoaster journey over the past couple of weeks. It must be hard to find time to process it all.
Thinking of you on your undue date today. xx
Mama, you’re so sweet. Thank you for remembering me on October 5th. xx
Wow Lauren. So much to take in. What a wonderful sister you have. I have no biological siblings- I can’t imagine that kind of bond. No matter what you decide to do, the fact that she is even willing to do this for you will strengthen your connection.
I’m so happy to hear you sounding positive. What a strong woman you are! Have a wonderful time at Hope Springs! You deserve it!
She is wonderful, thank you. Even though we’ve decided that we won’t use her as a donor, should we go the DEIVF route, she has opened our hearts to the possibility of egg donation. I hope she gets to be a fabulous aunt some day.
Strong? Ha. I have my freakouts. But I bounce back partly because I have a wonderful community of women like you xx
Oh wow, Lauren, I’m just catching up on blogs, and what a whirlwind of information for you to digest and process. So many difficult stepping stones, but it seems like you have a great handle on the options available to you, and that’s a great step! Best wishes as you move forward on this journey towards parenthood. ((HUGS))
Thanks, Josey, for pointing out that I have a handle on our options. You’re right, I just hadn’t thought of it that way before.
Now if I could only get a handle on my emotions…
Hugs to you too xx
Lauren, I am still reeling from reading about all you have had to go through these past few weeks. In the midst of all this horrifying news, I was struck by the beautiful little signs of hope you’ve gotten along the way–your grandmother’s gift to you from beyond the grave (that gave me goosebumps), your sister’s offer to be an egg donor even before you asked (that made me teary), and even the little details like the name of the hotel, Hope Springs. I know this is not the journey that you or anyone would want or ever expect, but I think you are destined for great things. You are such a wonderful writer that I wonder if you would ever consider writing a book about your experience. I would be the first to buy it! :) Thinking of you, friend.
Annie, darling, if ever I write a book you will be listed in the acknowledgements! I hope our parallel journeys have happy endings. Whatever path I’m on, it’s great to have you cheering me on. I hope I can be your cheerleader too!
That’s a lot to digest and I recommend you do it in bits and pieces. There are additional costs to donor IVF. I’ve blogged a lot about it if you want to check it out
Thank you. Which of your posts would you recommend I start with? There are so many to choose from!
Yeah, I know donor IVF has extra costs. Although I wouldn’t have to pay my sister the way I would an anonymous donor, there will be additional costs, like all the karyotyping (to make sure she doesn’t have what I do) and flying her from London to San Diego, spending money, etc. xx