Oh, how I wish I could stop being me for a couple of days. I drive myself nuts. I put a “widget” on my cell phone that counts down the days until April 19. We have 89 more gut-wrenching, attention-stealing days to go, thanks for asking.
I am at a place where I am desperate for a baby. This desperation has led my dear husband to assume that I mean any possible baby. How to explain?
No, I do not want to use a sperm or egg donor. No, I am not interested in adoption. I want OUR baby. I believe that adoption is something people feel “called” to do. I do not feel so “called.” It wouldn’t be fair for any child who could be loved by someone who had those driven feelings to get me instead.
The thing that is eating an acid hole in my esophagus right now is IVF. IVF with PGD is an absolute last resort for me. I don’t want to do it. I want to do this the good old fashioned way, and it dawned on me that if that is my desire, then why are we waiting another 89 days for exome results if all I want to do is try again naturally anyway?!?
Let’s just say conversation with husband regarding this new train of thought has not gone well. He thinks I am stubborn. I think he is unreasonable. We are both pushing each other toward things we know the other does not want. I believe we are at an impasse, AND WE DON’T EVEN HAVE THE EXOME RESULTS YET!
I have come to a place in my grief where the unfairness of it all has overwhelmed me. This is not how my life was supposed to be. This is not just the complete obliteration of a life plan, this is the complete obliteration of my personality — of my own self. So now I am set in this impossible place between the realization of unfairness, my completely unrecognizable self, and test results that could mean everything or nothing.
I may not make it past these next 89 days with my sanity. This is like “The Yellow Wallpaper” all over again.
Sunday, January 20, 2013
Sunday, January 13, 2013
96 days and counting...
It has been a rough couple of weeks. I have been tossing and turning at night, certain my insurance company must have screwed something up (or screwed me over) in the coverage of this exome from Baylor College of Medicine.
After a day of breakdown (crying, sobbing, really trying to live in my bed), I got the call I have been waiting for — the exome process has begun.
My genetic counselor said the test began on Dec. 19. It should be finished on or about April 19 (which is 96 days from right now, in case you are counting with me).
I felt like I might have been able to breathe for the first time in two months if I hadn’t been in the middle of a panic attack.
April 19!
We also discussed target testing for thalassemia, because the more I read about it, the more it makes sense in my case. We discussed single gene disorders and possible outcomes. We discussed my grief therapy.
Now for the genetic “BUT,” because there is always a “but” in the middle of every one of these genetic conversations.
“I’m hopeful for you,” the counselor said. “I just really hope we can come to a conclusion for you and your family. BUT REMEMBER that there are is a very small chance that this exome could come back with nothing.”
Wait, what?
This is IT. This is THE TEST. “Cutting edge technology,” the doctors tell me. If the exome can’t find it, then it can’t be found.
What then?
I have long understood the implications this test will have on my life. I am prepared for total depression when the results come back, almost no matter what the results reveal.
If the problem is genetic - dominant, recessive or x-linked, my Hubby will want to do IVF with PGD, which I don’t want to do. He will want to make certain, very, very certain, that we will have a healthy baby.
Let’s say it comes back clean. No problems. Do we go forth and procreate knowing that there is a chance that this latent genetic mutation could strike again? There will be no IVF with PGD because there will be nothing to look for — all the tests always come back with a normal karotype. All the amnios and CVS’s will be moot.
So that means we do what we have done before with zero success — we wait until 11 weeks for the NT scan and then have an early anatomy scan at 14 or 15 weeks.
It is a leap of faith we have fallen with twice before.
Now I guess all I can do is wait, which is the hardest thing to do. I can’t wait for a time in my life when I don’t have to think the word “exome” every day.
After a day of breakdown (crying, sobbing, really trying to live in my bed), I got the call I have been waiting for — the exome process has begun.
My genetic counselor said the test began on Dec. 19. It should be finished on or about April 19 (which is 96 days from right now, in case you are counting with me).
I felt like I might have been able to breathe for the first time in two months if I hadn’t been in the middle of a panic attack.
April 19!
We also discussed target testing for thalassemia, because the more I read about it, the more it makes sense in my case. We discussed single gene disorders and possible outcomes. We discussed my grief therapy.
Now for the genetic “BUT,” because there is always a “but” in the middle of every one of these genetic conversations.
“I’m hopeful for you,” the counselor said. “I just really hope we can come to a conclusion for you and your family. BUT REMEMBER that there are is a very small chance that this exome could come back with nothing.”
Wait, what?
This is IT. This is THE TEST. “Cutting edge technology,” the doctors tell me. If the exome can’t find it, then it can’t be found.
What then?
I have long understood the implications this test will have on my life. I am prepared for total depression when the results come back, almost no matter what the results reveal.
If the problem is genetic - dominant, recessive or x-linked, my Hubby will want to do IVF with PGD, which I don’t want to do. He will want to make certain, very, very certain, that we will have a healthy baby.
Let’s say it comes back clean. No problems. Do we go forth and procreate knowing that there is a chance that this latent genetic mutation could strike again? There will be no IVF with PGD because there will be nothing to look for — all the tests always come back with a normal karotype. All the amnios and CVS’s will be moot.
So that means we do what we have done before with zero success — we wait until 11 weeks for the NT scan and then have an early anatomy scan at 14 or 15 weeks.
It is a leap of faith we have fallen with twice before.
Now I guess all I can do is wait, which is the hardest thing to do. I can’t wait for a time in my life when I don’t have to think the word “exome” every day.
Sunday, January 6, 2013
An only child, with brothers
I often feel alone in my struggle with this unknown. I know this has happened to other people, that other women are out there, crying my tears, missing their babies. The great question, asked again and again, never answered — Why?
I sometimes forget the collateral damage in my own circle. My husband, who fell apart with the death of our first son, has been holding me together with emotional duct tape since we lost our second baby. We talk about it, of course. We tearfully remember the boys we never really knew, we look at the tiny ink footprints made by the nurses in the hospital, one pair so much bigger than the other, but both sets still so incredibly tiny.
And then there’s the big sister in all this — our 6-year-old daughter. She so desperately wanted to be a big sister, she was so excited about both her baby brothers. She has lived this painful year with us, quietly watching us bury our boys, quietly insisting she is still a big sister.
The impact of these losses for her is most clearly seen when I’m not really looking. I asked her where she wanted to have her birthday party — her answer? In the cemetery so her brother could be there. She asks her friends if they have brothers at the cemetery, too. We pass the place where we bought the memorial stone and she says, “Look! It’s the cemetery store!”
I felt it again today when Hubby took her to get her bangs trimmed. Always chatty, our little girl was discussing important matters with the hairstylist when the innocent question came up.
“Do you have any brothers or sisters?”
Oh, yes, she says. I have two brothers.
“Are they big brothers or little brothers?”
*Her father holds his breath for her answer*
“Neither. They’re dead.”
Her answer has far-reaching implications on her mother’s emotional state. Once this exome comes back - no matter what the findings - we have a decision to make. Do we try to give her the sibling she wants so much? Do we decide what we have - and what we have lost - is enough? Will I have to tell her “the baby died” a third time?
I am absolutely sick over - and guilty of - crushing her world, and I don’t want to do it again. I need the science to save me.
Thursday, January 3, 2013
An inheritance pattern bust
Back to the drawing board.
I know I shouldn’t try to beat the exome results to the punch, but this mystery is meant to be solved. As I mentioned before, my husband caught wind of a lead on a cousin who may have had similar problems (two dead babies, late term).
Turns out, it was much ado about nothing. Yes, she lost babies, but her children were not full term and had no birth defects. Doctors (15 years ago) suspected blood clots, but no additional testing was done. One baby was a boy, one was a girl.
So besides now having a person to commiserate with over dead babies (and the rest of the world that doesn’t understand the impact of dead babies on emotionally trampled mothers), I have no new information.
Square one, my friends.
I have spent several nights in the blue glow of my iPad researching Thalassemia.
What is Thalassemia?
The thalassemias are a diverse group of genetic blood diseases — the most common inherited single gene disorder in the world.
But what does this blood disorder have to do with my babies? Google thalassemia + ambiguous genitalia. Then thalassemia + micrognathia. Then thalassemia + cystic hygroma.
They all hit individually. It happens. No one study, no one Google search will bring up every one of my boys’ defects, but search for them individually and there they are.
Now, let’s discuss the BUT. (There is always, always a BUT in my genetic train of thought). If thalassemia is “the most common inherited single gene disorder in the world,” wouldn’t this have shown up in the micro array done on both boys? Wouldn’t this be one of the many things the many genetic tests would catch? Somewhere in my late-night research I noted that there are a few “undetectable” forms of thalassemia. Could the exome find them?
The other fun, fun, fun thing about thalassemia is the inheritance pattern — it can be dominant or recessive and x-linked. It is a genetic jack-of-all-trades.
And again there is no inheritance pattern, other than the cousin’s completely unexplained losses (also noting she has two healthy children - a boy and a girl), in either of our families.
I know that I very well may get the answers I need at the end of the exome and that chasing the genetic “maybes” may be doing me more emotional harm than good.
But how do you just sit around and wait for the answer that could change your life?
I know I shouldn’t try to beat the exome results to the punch, but this mystery is meant to be solved. As I mentioned before, my husband caught wind of a lead on a cousin who may have had similar problems (two dead babies, late term).
Turns out, it was much ado about nothing. Yes, she lost babies, but her children were not full term and had no birth defects. Doctors (15 years ago) suspected blood clots, but no additional testing was done. One baby was a boy, one was a girl.
So besides now having a person to commiserate with over dead babies (and the rest of the world that doesn’t understand the impact of dead babies on emotionally trampled mothers), I have no new information.
Square one, my friends.
I have spent several nights in the blue glow of my iPad researching Thalassemia.
What is Thalassemia?
The thalassemias are a diverse group of genetic blood diseases — the most common inherited single gene disorder in the world.
But what does this blood disorder have to do with my babies? Google thalassemia + ambiguous genitalia. Then thalassemia + micrognathia. Then thalassemia + cystic hygroma.
They all hit individually. It happens. No one study, no one Google search will bring up every one of my boys’ defects, but search for them individually and there they are.
Now, let’s discuss the BUT. (There is always, always a BUT in my genetic train of thought). If thalassemia is “the most common inherited single gene disorder in the world,” wouldn’t this have shown up in the micro array done on both boys? Wouldn’t this be one of the many things the many genetic tests would catch? Somewhere in my late-night research I noted that there are a few “undetectable” forms of thalassemia. Could the exome find them?
The other fun, fun, fun thing about thalassemia is the inheritance pattern — it can be dominant or recessive and x-linked. It is a genetic jack-of-all-trades.
And again there is no inheritance pattern, other than the cousin’s completely unexplained losses (also noting she has two healthy children - a boy and a girl), in either of our families.
I know that I very well may get the answers I need at the end of the exome and that chasing the genetic “maybes” may be doing me more emotional harm than good.
But how do you just sit around and wait for the answer that could change your life?
Wednesday, January 2, 2013
Chromosomes are expensive
Genetic studies are not for everyone. How do I know? Because they are prohibitively expensive. It strikes me that the people who need this testing the most — people with affected children, people who have been through multiple terminations for medical reasons or have had multiple dead babies — those are the people who likely can’t afford specialized, targeted testing.
As one “well meaning” person said to me, “What does it matter if the baby is already dead?”
I guess that is the big question for insurance companies, too. It rolls out like this — the exome testing via the Baylor College of Medicine costs about $12,000 out of pocket. That’s a small car! Because our insurance company (bless them) decided to cover the test, it would be about $3,500 out of pocket. BUT if the billing comes from the our hospital instead of Baylor — meaning we pay the hospital and the hospital pays Baylor — it is “in PPO” and we pay $750.
* As a snarky side-note — the insurance company covers $12,000 in genetic testing for the benefit possible future babies if we want to take the risk of having more. BUT they will not cover IVF or pre implantation genetic testing. BUT they will cover terminations for medical reasons. BUT they don’t cover Mirena intrauterine birth control if I don’t want to take the risk. Smarter people than me must be making these decisions. The medical code also suggests that the mothers of dead babies don’t need counseling, BUT it will cover anti-depressants if they need them.
Now what if our insurance company said no to the exome? That would have left us with three options — ignore the fact that some gene in myself or my husband leaves our children incompatible with life OR pony up $12,000, OR sign up for a research study.
I haven’t done much research on research studies, mostly because I didn’t have to — my insurance company said “yes,” and did said it without a fight. Research studies, if you meet the criteria, are free or mostly free for the patients. The cons, if you will, include the length of time for results (a year or more as compared to four months). My genetic counselor also mentioned that the study looks for what the study needs — not for what you or your geneticist might be looking for.
And no matter what, the findings are subject to “human interpretation.”
At the end of the day, private exome testing costs dollars and a lot of them. Keep in mind that my disastrous year of dead babies (two in eight months) included two surgeries and millions of dollars in diagnostics. I hit my out-of-pocket maximum ($6,000) plus my monthly deductible, plus my CO-pays. AND my husband didn’t have the healthiest year, either. We will write off his out-of-pocket maximum ($6,000), too.
All in all, my wages for this full year paid for most of what we owe in medical bills.
The good news is that exome sequencing is getting cheaper all the time. Years ago, Steve Jobs (think Apple) had his exome done for $100,000.
But I don’t think he had to worry about how to pay for his “out of PPO” costs.
As one “well meaning” person said to me, “What does it matter if the baby is already dead?”
I guess that is the big question for insurance companies, too. It rolls out like this — the exome testing via the Baylor College of Medicine costs about $12,000 out of pocket. That’s a small car! Because our insurance company (bless them) decided to cover the test, it would be about $3,500 out of pocket. BUT if the billing comes from the our hospital instead of Baylor — meaning we pay the hospital and the hospital pays Baylor — it is “in PPO” and we pay $750.
* As a snarky side-note — the insurance company covers $12,000 in genetic testing for the benefit possible future babies if we want to take the risk of having more. BUT they will not cover IVF or pre implantation genetic testing. BUT they will cover terminations for medical reasons. BUT they don’t cover Mirena intrauterine birth control if I don’t want to take the risk. Smarter people than me must be making these decisions. The medical code also suggests that the mothers of dead babies don’t need counseling, BUT it will cover anti-depressants if they need them.
Now what if our insurance company said no to the exome? That would have left us with three options — ignore the fact that some gene in myself or my husband leaves our children incompatible with life OR pony up $12,000, OR sign up for a research study.
I haven’t done much research on research studies, mostly because I didn’t have to — my insurance company said “yes,” and did said it without a fight. Research studies, if you meet the criteria, are free or mostly free for the patients. The cons, if you will, include the length of time for results (a year or more as compared to four months). My genetic counselor also mentioned that the study looks for what the study needs — not for what you or your geneticist might be looking for.
And no matter what, the findings are subject to “human interpretation.”
At the end of the day, private exome testing costs dollars and a lot of them. Keep in mind that my disastrous year of dead babies (two in eight months) included two surgeries and millions of dollars in diagnostics. I hit my out-of-pocket maximum ($6,000) plus my monthly deductible, plus my CO-pays. AND my husband didn’t have the healthiest year, either. We will write off his out-of-pocket maximum ($6,000), too.
All in all, my wages for this full year paid for most of what we owe in medical bills.
The good news is that exome sequencing is getting cheaper all the time. Years ago, Steve Jobs (think Apple) had his exome done for $100,000.
But I don’t think he had to worry about how to pay for his “out of PPO” costs.
Tuesday, January 1, 2013
Coping (or not)
Coping (or not)
Beyond the exome - and I swear to you this not-yet-started test takes up 80 percent of my thought process - I would be remiss to ignore the process of healing my destroyed soul.
When I say I have grieved, that I am still grieving, it is an understatement.
Oh, I get out of bed in the morning and make Hubby's breakfast. I get the kiddo to school. I go to work. I clean the house and make the meals.
I function, but it ain't pretty.
In the last two months, I have lost 23 pounds from my 126 pound self. I sleep with the help of an anti-anxiety pill, which sometimes works and sometimes doesn't. Now, in the latest cliche, I blog late into the night. Oy.
After my insurance company denied me grief counseling, I sought the help of a professional who referred me to a free counseling center. I have to drive an hour to get there, but I go once a month.
I will say that there is something wonderful about discussing my feelings with a counselor who only deals with grief. I am not a puzzle to diagnose here. We both know why I am sad and we both know she can't bring my babies back to me. But she makes me feel less crazy.
For instance, I am not suicidal. I feel the need to assert this fact to every doctor I see. I want there to be no misunderstanding - I will not take my own life.
But it would be absolutely fine by me if I didn't wake up tomorrow morning.
This, apparently, is a normal response to extreme grief.
But how exactly do you verbalize the death of two babies? How to you say, "I lost two babies in seven months. I had to tell my child her sibling died TWICE. But don't you worry about me...I'm doing just fine."
I will never recover from this. I know that sounds self defeating, but it is my honest truth. The woman I was on this day one year ago is gone and she can't come back. I know my family is waiting on me to snap out of it, and I know they think they are being patient with me until I come to my senses. But I also know that there is a part of me that is over. Even if, and IF is the million dollar word around here, even IF I got pregnant and had a healthy child, I can never go back to the me that existed before my boys died.
I guess the fallout from that truth remains to be seen
Beyond the exome - and I swear to you this not-yet-started test takes up 80 percent of my thought process - I would be remiss to ignore the process of healing my destroyed soul.
When I say I have grieved, that I am still grieving, it is an understatement.
Oh, I get out of bed in the morning and make Hubby's breakfast. I get the kiddo to school. I go to work. I clean the house and make the meals.
I function, but it ain't pretty.
In the last two months, I have lost 23 pounds from my 126 pound self. I sleep with the help of an anti-anxiety pill, which sometimes works and sometimes doesn't. Now, in the latest cliche, I blog late into the night. Oy.
After my insurance company denied me grief counseling, I sought the help of a professional who referred me to a free counseling center. I have to drive an hour to get there, but I go once a month.
I will say that there is something wonderful about discussing my feelings with a counselor who only deals with grief. I am not a puzzle to diagnose here. We both know why I am sad and we both know she can't bring my babies back to me. But she makes me feel less crazy.
For instance, I am not suicidal. I feel the need to assert this fact to every doctor I see. I want there to be no misunderstanding - I will not take my own life.
But it would be absolutely fine by me if I didn't wake up tomorrow morning.
This, apparently, is a normal response to extreme grief.
But how exactly do you verbalize the death of two babies? How to you say, "I lost two babies in seven months. I had to tell my child her sibling died TWICE. But don't you worry about me...I'm doing just fine."
I will never recover from this. I know that sounds self defeating, but it is my honest truth. The woman I was on this day one year ago is gone and she can't come back. I know my family is waiting on me to snap out of it, and I know they think they are being patient with me until I come to my senses. But I also know that there is a part of me that is over. Even if, and IF is the million dollar word around here, even IF I got pregnant and had a healthy child, I can never go back to the me that existed before my boys died.
I guess the fallout from that truth remains to be seen
Genetics under the Christmas Tree
I have been chasing the ghosts of my ancestors' dead babies.
The thing about genetics is that it doesn't just belong to you - it belongs to everyone who came before you and it belongs to the generations that come after.
If you are living this particular Hell, you must be doing what I do at family gatherings - look to the left and then to the right. Why did this happen to us instead of to my cousin? I wouldn't wish this on anyone, but in a room full of people with my nose and wide forehead, why did I have to inherit and pass on a deadly genetic mutation? If it isn't me, then it is my husband's genes that are betraying us. Why didn't his bachelor cousin end up with this?
Why us?
This year, like a present with a bow, I may have gotten some answers.
We have asked and asked our families to disclose any stillbirths, miscarriages, fertility issues - anything that might help solve this mystery.
Oh, no, they all said...no answers here OR there. I spent a month chasing down my elderly great aunt looking for an x-linked pattern. I never found it. My mother's mother had some odd fertility patterns, but she also had four children (one boy) and a brother. My mother had one very early miscarriage, but had four healthy children (and two were boys).
My aunt also had miscarriages, but far from full term.
My great grandmother had two miscarriages and a stillborn. AhHa! You say, but that was a dead end, too. The stillbirth was caused by a fall from a ladder while she was painting the house.
The truth of the matter is, I'm not looking for miscarriages. My babies were full term. There are no tiny graves on my side of the family.
Anyway, back to Christmas, where Hubby gets into a discussion with his cousin about his batty wife's inability to hobnob with the in-laws while grieving for her dead children.
Turns out, there is a cousin on his side who also lost babies. FULL TERM BABIES. We are awaiting a phone call from this cousin because we need answers - one baby died at 20 weeks and they didn't know the sex (ambiguous genitalia?). Someone said maybe it had something to do with folic acid (neural tube defect?) I am on pins and needles for this phone call.
I just want answers. I just need answers.
The thing about genetics is that it doesn't just belong to you - it belongs to everyone who came before you and it belongs to the generations that come after.
If you are living this particular Hell, you must be doing what I do at family gatherings - look to the left and then to the right. Why did this happen to us instead of to my cousin? I wouldn't wish this on anyone, but in a room full of people with my nose and wide forehead, why did I have to inherit and pass on a deadly genetic mutation? If it isn't me, then it is my husband's genes that are betraying us. Why didn't his bachelor cousin end up with this?
Why us?
This year, like a present with a bow, I may have gotten some answers.
We have asked and asked our families to disclose any stillbirths, miscarriages, fertility issues - anything that might help solve this mystery.
Oh, no, they all said...no answers here OR there. I spent a month chasing down my elderly great aunt looking for an x-linked pattern. I never found it. My mother's mother had some odd fertility patterns, but she also had four children (one boy) and a brother. My mother had one very early miscarriage, but had four healthy children (and two were boys).
My aunt also had miscarriages, but far from full term.
My great grandmother had two miscarriages and a stillborn. AhHa! You say, but that was a dead end, too. The stillbirth was caused by a fall from a ladder while she was painting the house.
The truth of the matter is, I'm not looking for miscarriages. My babies were full term. There are no tiny graves on my side of the family.
Anyway, back to Christmas, where Hubby gets into a discussion with his cousin about his batty wife's inability to hobnob with the in-laws while grieving for her dead children.
Turns out, there is a cousin on his side who also lost babies. FULL TERM BABIES. We are awaiting a phone call from this cousin because we need answers - one baby died at 20 weeks and they didn't know the sex (ambiguous genitalia?). Someone said maybe it had something to do with folic acid (neural tube defect?) I am on pins and needles for this phone call.
I just want answers. I just need answers.
Initial information is uninformative
I received the paperwork for
the DNA banking and a request for an $88 check to begin the process of
beginning the process of starting this exome.
I sent it immediately, driving to the post office in the snow to mail it before days' end.
What is this step? We banked DNA from both babies in the hopes something could be found genetically SOMEDAY.
Today is someday, I suppose.
This banking, along with blood samples from myself and my husband, are the tools necessary for this exome.
This initial offering of paperwork did not include any answers to any of my questions, though my heart leaped into my throat when I saw that envelope in my mailbox.
A few points of frustration:
I was told the insurance company would give me an answer about covering the exome in two weeks. Instead, it took them nearly two months.
We still don't have a start date for the exome work.
The autopsy on this baby showed almost nothing as far as findings, because he was too small.
It will take four months - until April or May - for any results to come back. I feel as though I may die of frustration or sadness before I find out what killed my little ones.
I sent it immediately, driving to the post office in the snow to mail it before days' end.
What is this step? We banked DNA from both babies in the hopes something could be found genetically SOMEDAY.
Today is someday, I suppose.
This banking, along with blood samples from myself and my husband, are the tools necessary for this exome.
This initial offering of paperwork did not include any answers to any of my questions, though my heart leaped into my throat when I saw that envelope in my mailbox.
A few points of frustration:
I was told the insurance company would give me an answer about covering the exome in two weeks. Instead, it took them nearly two months.
We still don't have a start date for the exome work.
The autopsy on this baby showed almost nothing as far as findings, because he was too small.
It will take four months - until April or May - for any results to come back. I feel as though I may die of frustration or sadness before I find out what killed my little ones.
Back story
So here is a little back story...
Last year I found out I was pregnant. It was a planned pregnancy with no complications until 20 weeks, when we were told our baby had severe structural abnormalities, including micronathia (small chin), rocker bottomed feet, overlapping fingers, two heart defects, ambiguous genitalia, fluid filled kidneys and a neural tube defect that presented as a Dandy Walker variant.
The baby died.
Before his death I underwent an amniocentesis, which provided the DNA for three rounds of genetic testing - the FISH, the SNP, and a microarray. We also target tested for Smith Lemli Oplitz Syndrome. All tests came back normal.
Given our lack of family history, the assumption was that the problem was de novo, or a genetic mutation that was new and unique to that baby. We were told that there was no reason we couldn't have a healthy baby.
We tried again and got pregnant immediately, but it was a blighted ovum.
Without missing a beat (or getting a period) I became pregnant with our second child. Now no strangers to genetic issues, we insisted on targeted ultrasounds and every screening available to us. At the 12 week early anatomy scan, we discovered an increased nuchal translucency of 5 - a soft marker for chromosomal problems. Two weeks later we found that the baby had all the problems as his brother, including a severe diaphragmatic hernia (his stomach was in his chest cavity) and cystic hygroma (a big fluid filled cyst on the brain).
The baby died.
Again, all our testing showed no problems with chromosomes...no deletions, no additions, no trisomies, no translocations...
The mystery baffles us all.
Then, miracle of miracles, our insurance company approved an exome sequencing of the second baby's DNA. The autopsy was performed, the DNA was banked. So now, we wait.
The reason I decided to write this blog is because I can find no valuable information about exactly what exome sequencing actually means for families like mine. Sure, you can find information on autosomal recessive and dominant disorders, on chances based on x-linked problems - but there is nothing out there to guide me through this process of exome sequencing. At the end of the day, WHAT DOES IT ALL MEAN? There are no promises made here. Will we get the answers we so desperately want and if we get those answers, what does it mean for our future?
A few blog keeping notes before I start:
* My babies both have names and graves. I will not refer to them by name here in an effort to maintain some privacy.
* I am under the care of some brilliant genetic counselors who are as baffled by this as their peers. They have no answers for me and they talk in their own science language that leaves me Googling for days.
* I am a female of non-advanced maternal age. I have one child (healthy) from a previous relationship. Before this year, I had not experienced a loss.
* I am a science experiment in fertility. I have become pregnant within one month of trying each time I have tried to get pregnant.
* I am heartbroken. I go through this very scientific process with a lot of sadness and emotion. I know that even if the geneticists find the nasty gene that killed my babies, the knowledge won't do me much good. I sincerely hope this blog helps someone like me who wants answers where there are none in a process used so rarely it hasn't been humanized from the science of it all.
Last year I found out I was pregnant. It was a planned pregnancy with no complications until 20 weeks, when we were told our baby had severe structural abnormalities, including micronathia (small chin), rocker bottomed feet, overlapping fingers, two heart defects, ambiguous genitalia, fluid filled kidneys and a neural tube defect that presented as a Dandy Walker variant.
The baby died.
Before his death I underwent an amniocentesis, which provided the DNA for three rounds of genetic testing - the FISH, the SNP, and a microarray. We also target tested for Smith Lemli Oplitz Syndrome. All tests came back normal.
Given our lack of family history, the assumption was that the problem was de novo, or a genetic mutation that was new and unique to that baby. We were told that there was no reason we couldn't have a healthy baby.
We tried again and got pregnant immediately, but it was a blighted ovum.
Without missing a beat (or getting a period) I became pregnant with our second child. Now no strangers to genetic issues, we insisted on targeted ultrasounds and every screening available to us. At the 12 week early anatomy scan, we discovered an increased nuchal translucency of 5 - a soft marker for chromosomal problems. Two weeks later we found that the baby had all the problems as his brother, including a severe diaphragmatic hernia (his stomach was in his chest cavity) and cystic hygroma (a big fluid filled cyst on the brain).
The baby died.
Again, all our testing showed no problems with chromosomes...no deletions, no additions, no trisomies, no translocations...
The mystery baffles us all.
Then, miracle of miracles, our insurance company approved an exome sequencing of the second baby's DNA. The autopsy was performed, the DNA was banked. So now, we wait.
The reason I decided to write this blog is because I can find no valuable information about exactly what exome sequencing actually means for families like mine. Sure, you can find information on autosomal recessive and dominant disorders, on chances based on x-linked problems - but there is nothing out there to guide me through this process of exome sequencing. At the end of the day, WHAT DOES IT ALL MEAN? There are no promises made here. Will we get the answers we so desperately want and if we get those answers, what does it mean for our future?
A few blog keeping notes before I start:
* My babies both have names and graves. I will not refer to them by name here in an effort to maintain some privacy.
* I am under the care of some brilliant genetic counselors who are as baffled by this as their peers. They have no answers for me and they talk in their own science language that leaves me Googling for days.
* I am a female of non-advanced maternal age. I have one child (healthy) from a previous relationship. Before this year, I had not experienced a loss.
* I am a science experiment in fertility. I have become pregnant within one month of trying each time I have tried to get pregnant.
* I am heartbroken. I go through this very scientific process with a lot of sadness and emotion. I know that even if the geneticists find the nasty gene that killed my babies, the knowledge won't do me much good. I sincerely hope this blog helps someone like me who wants answers where there are none in a process used so rarely it hasn't been humanized from the science of it all.
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