Monday, December 22, 2008

Word Of The Day Is "Semilobar Holoprosencephaly"

Tonya and I got back from our appointment today with more information about our baby's condition.

Before I go further, a quick caveat: even though this is my unborn daughter I'm writing about, what follows likely will sound detached and clinical. I hope the tone and content doesn't offend anyone reading this; just consider it part of my way of coping.

And for many, what follows will sound like Too Much Information. If you are easily unsettled by descriptions of medical conditions, then the rest of this post is not for you. I'm writing this for friends and family who want to know the details about what's going on.

The news is not good; even if the baby survives for any length of time (which does not appear likely), she won't have anything that resembles a normal life.


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Our examination today was in the form of a very detailed ultrasound. Incidentally, the doctor said that Tonya--who, despite her added pregnancy weight, is naturally a slender person--has a body that is good for making high-quality ultrasound images of her inner bits. This also means that the things we saw today are almost certainly the real deal.

Here's a rundown of what was detected.


The Brain: our baby has what the doctor termed semilobar holoprosencephaly. The "holoprosencephaly" part basically means the brain has failed to split properly into left and right hemispheres. The "semilobar" part means that this is not a complete failure; some of the structures do exist in the right places. However, just because this is an intermediate form of holoprosencephaly does not mean it is a minor condition. In our little girl's case, there is some separation between hemispheres in the posterior portion of the brain, but the anterior portion is missing some important structures. In a normal brain, the brain tissue folds back and forth on itself in a big wrinkly mass; in our girl's, there is a thin, smooth layer of brain tissue lining the inside front of the skull, with a large fluid-filled empty spot just behind it where that big wrinkly mass should be.

And the cerebellum, which normally shows up on an ultrasound as two large side-by-side ovals right at the base of the skull, in our girl's case appear as a spindly mass on one side of the brain, unmatched on the other side.

The bottom line here is that our little girl is missing large portions of her brain. And, as is normal in such cases, her head is smaller than expected for her developmental age (microcephaly).


The Face: The development of the face is controlled by a lot of the same processes that control the development of the brain, and so when there is a problem with one, it is frequent for there to be a problem with the other. Our little girl is no different in this regard. In her case the ultrasound detected two abnormalities, both of which are common in cases of holoprosencephaly. First, the nose only has one nostril, centered; second, the eyes are spaced much more closely together than is normal. These two conditions together are called Cebocephaly.


The Heart: Several defects were detected in the heart--including its location, perfectly centered within the chest (as opposed to slightly on the left, where it should have been). It also appeared to be turned in an odd direction.

The most serious defect was referred to as a "trunc defect"; when I looked it up online, it appears the more technical term is Persistent Truncus Arteriosus. My understanding is this: the Truncus Arteriosus is a structure that is formed along with the embryonic heart very early in the pregnancy. As the pregnancy progresses, this structure is ultimately subdivided and split into the aorta and the pulmonary artery. In cases of Persistent Truncus Arteriosus, this subdivision never really occurs, and instead of a separate aorta and pulmonary artery, only a single blood vessel leads from the heart; both ventricles pump their blood into it. In fetal hearts this isn't necessarily a big deal, since their oxygen comes in through the umbilical (not the lungs) anyway; but after birth, when the lungs are supposed to supply the oxygen, this mixing of oxygenated blood from the lungs and depleted blood from the body results in insufficient oxygen getting to the rest of the body.

Also, a ventricular septal defect was detected as well; there's a hole in the wall between the left and right ventricles.


The Kidneys: Instead of two separate kidneys, our baby has one horseshoe-shaped kidney--or, rather, two kidneys that come around in front of the spine and join each other. Now, horseshoe kidneys don't always work. It appears, though, that our little girl's kidney is functioning; they were able to detect on the ultrasound two little, symetrical reservoirs of fluid that it had processed.


The Hands: The doctor was able to get a good look at one of the hands, and counted six fingers (or five plus a thumb). Also, it appears the thumb was folded over in front of the hand. We weren't able to get a good look at the other extremities, but strongly suspect that they are polydactyl as well. It turns out that polydactyly is fairly common as a "syndrome of congenital anomalies" (according to Wikipedia).


Those were the main findings, which they pointed out to us on the ultrasound.

Now, nearly all of these anomalies have something in common: they all (with the possible exception of the extra digits) are related to the development of left-right symmetry in the body. The holoprosencephaly is a problem that occurs when the brain fails to divide in half; the development of the close-set eyes and single nostril, involve facial features appearing too close to the centerline of the body; the failure of the Truncus Arteriosus to divide properly into Aorta and pulmonary artery; the failure of the heart to develop a strong wall between left and right ventricles; the failure of the kidneys to separate fully--all of these things suggested to the doctor a common origin. Any one of these symptoms can happen in isolation, as one-offs; but for them to happen all at the same time, suggests some kind of common cause.

The doctor thinks that there is a chromosome abnormality behind all of this. And, indeed, nearly all of the symptoms on the above list show up in the list of symptoms of Trisomy 13.


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If I have any readers who've forgotten their college biology, the cells of the human body each have 23 pairs of chromosomes, with one chromosome from each pair coming from the father, and one from the mother. These chromosomes contain all the "software" (actually, this is an excellent analogy) needed to build every protein the body needs. But every once in a while, as the cells are dividing, one copy will get a chromosome too many (or too few). The extra (or missing) genetic material can have unpredictable, and undesirable, consequences. If the cell that gets the extra (or missing) genetic material is a sex cell (sperm or egg), then every cell of the person formed when the sperm and egg fuse will have the wrong number of chromosomes.

If our little girl indeed has Trisomy 13, it means she has three copies of the chromosomes that make up pair number 13. Now, my understanding is that these chromosomes are heavily involved in building the structure of the body while in utero. This extra genetic material has thrown a proverbial monkey wrench into the entire process of fetal development, messing up one organ after another. As I mentioned above, any list of symptoms for Trisomy 13 contains many of the things we saw in that ultrasound today: polydactyly, holoprosencephaly, heart problems, face and eye problems, and other organ problems.

Of course, we won't know for certain that it really is Trisomy 13 until we get the results back from the amniocentesis. (And for all we know, it could still be Trisomy 18, which has a lot of similar symptoms, or some other condition.)


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So what is the prognosis?

Well....

With the exception of the problems in the brain, most everything else here is treatable to some degree or another. The doctor said that if the heart problems had happened in an otherwise normal child, the treatment and recovery--though difficult and dangerous--would be possible. And the kidney(s) seem(s) to be functioning.

But with all these issues at the same time--plus the fact that the problems in the brain can't be helped--her outlook is not good. The genetic counselor described for us the survival rate of Trisomy 13 babies, and it is pretty low. Most babies with the problems we're seeing never make it to full-term. Trisomy 13 babies that do, according to the counselor, have a median lifespan of two days. Only 5% make it to six months. And with what we learned today, we seriously doubt that ours would be in that number.


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So what to do?

Anyone who's made it this far into my little essay is probably wondering about whether we'd consider terminating the pregnancy. And truth be told, even though our attitudes toward abortion are what you would typically expect from conservative Christians, I don't think either of us would pass judgement on anyone in our position who decided to make that choice. However, that won't be us. The thought of taking her life--even when it's highly unlikely that she will ever become conscious--just does not sit well with us. We do not feel competent to decide when her life should end--that's God's job, not ours.

Our job, which God has assigned us, is to love her for as long as we have her.

So again: what to do?

The answer, really, is just to keep putting one foot in front of the other until we get where we're going. We know we'll lose her at some point in the not too distant future, but we don't know when and we don't know the circumstances under which it will happen.

If we do wind up going to full term--a probability that is not necessarily high--most likely they will schedule a C-Section. They don't want to do a natural delivery because that takes too long, and the baby's vital signs are hard to measure when the baby's internal organs are as nonstandard as her's are.

And then, we'll wait and see what happens.


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I've gotten a lot of comments from people over the last few days, telling me that they've been praying for us and giving us what encouragement they can. To all of you who've dropped in to support us with your thoughts, I want to thank you for your support. It really does mean a lot to us. I may not have the biggest readership on the planet, but I've got one of the best. Thanks!

30 comments:

Wendy Power said...

To whatever degree of awareness she has, she will know only the peace, warmth and security of being inside her mother. Then she gets to go to God.

timeless said...

Prayer warriors are in full action for all of you. All the words, all the admonitions to God, (Yes, I want to scream, "ENOUGH, now!"), all the platitudes seem so inadequate.

Wendy said it all.

Your "clinical" description of everything was far from clinical...it was accurate information about your baby girl as told by a father and mother whose hearts are no doubt breaking into a million pieces. Just keep on talking to us, and when you are ready, let us know her name.

You are loved...never forget that...and to paraphrase a famous philosopher, you have been given a "cup" to drink from, and though it will burn your lips, it has been fashioned of the clay which the Potter has moistened with His own sacred tears.

ThereseAnn said...

Your post came to my inbox under the Google alert for "trisomy 13"

My heart goes out to you, and please know I will lift you and your family, especially your baby girl, up in our prayers.

I facilitate the Living with trisomy 13 family support site. http://www.livingwithtrisomy13.org

Please visit the site and look at the many support resources we have available for trisomy families. Also the "Prenatal Support" page has many "DON'T MISS" resources to help you on this journey.

We also have a message board where new families can ask questions and learn from others who've also traveled this trisomy path. The LWT13 site has many photos and videos of these very special children.

I'm already impressed with your physician who is open to doing surgery if necessary. Sadly, Not all families are given this option.
It sounds like your professionals are open to your wishes...especially having a c-section. That is amazing!

My daughter arrived via a planned c-section, although we did not know she had t13, I opted for no prenatal testing, and her anomalies were not picked up in the few ultrasounds. To say the least, we were shocked, surprised and had many of the same emotions our families have when told their child is likely not to live long.

Natalia is still with us, has full trisomy 13, and came with many of the t13 malformations. (frontal lobe fusion, bilateral cataracts, cleft lip/palate, tongue tie, small ASD and VSD, complete malrotation of the intestines, reflux, enlarged kidney, rocker bottom feet, and extra digits on her hands.) But she is still here. We did opt for medical intervention and all I can say is-- she is the most loving and joy filled child ever. She really is a sweetie! They are a lot of work, but bring wit them the most amazing blessings....

You can view her off her page
http://livingwithtrisomy13.org/album14.htm

Please join the message board and meet some of our wonderful families.

Wishing you all the best...
ThereseAnn, mom to Natalia, full trisomy 13 - 8 yrs.

the Redelsperger family said...

Our hearts go out to you. You are in our prayers.

lmouser said...

It's never good when our children are in danger, and difficult to understand why these things happen.

You and the your family are in my prayers.

Larry

Griz said...

Tim, tears fill my eyes as I read your blog. I'm so glad this baby has you guys to love her and think of her through this tough process. Many of us can't understand your exact emotions, but know we are lifting them up in prayer.

Anonymous said...

You are all in our thoughts and prayers. Thanks for sharing your blog with us.
God Bless,
Snow Family

B. Durbin said...

There are MANY internet resources to help you with whatever happens. Once you have a correct diagnosis, google "carry to term [trisomy 13]" (or whatever condition it is) and it pops up with all sorts of support pages (including rundowns for your family and friends so that they know what's going on and don't go silent out of fear of saying the wrong thing.)

I will keep praying for you. May you be able to experience the joy of your daughter, and may it be for some time.

Rose said...

My kids have radar. I sit down to read my fave blogs and here they come with every question on the planet and then some. And as I read this, it is impossible to get irritated with this process. Now they think I'm nuts that I want to hug them every time they come over.

Roger Z said...

Tim- I'm lost for words, there's nothing I've been through that could prepare me to be any comfort to you. Have faith, that's all I can say. Here, I can say this: I think you're exactly right, that all you can do is love your child for who she is, and that is an inspiration to me. To love her for who she is now and who she will be, to provide the comfort and warmth that she deserves because she's your child. That is a great role model to the rest of us, a powerful one. I pray for you, I pray for your child, and I pray that those of us who follow can be as strong as you.

Timothy Power said...

I wish I could respond to each of you individually, but Christmas chores await, so I'll just reiterate my many thanks for all your prayers and kind wishes. We're very honored and encouraged by your concern for us, our family, and our baby. We will definitely keep everyone informed as new information comes in, and we definitely promise to hang in there.

Joe & Leilani said...

Tim & Tonya,
Our hearts are soo very sad for you. We both cried when we read the news. I wish there was something I could say that would make any of this any easier, but I know that is not possible.
We hurt because your hurting.
If either of you need anyone to cry with, be mad with, laugh with or anything at all we would be more than happy to be there for you.
We don't know why God gives us people for a short season, but He does have a reason. And she will know your love for her. And she will be made whole when God calls her.
You are our family and we love you all oodles.
Love,
Joe & Leilani

Laurie-Beth said...

Tim and Tonya,

I am so very sorry...My daughter Serena was diagnosed by amnio with trisomy 13 eleven years ago, and I can still remember how very difficult this all is...ThereseAnn from the Living with Trisomy 13 support site forwarded me your blog and I wanted to offer my help and support if you needed it...I am a RN who works with prenatal families whose children receive a life-limiting diagnosis - many of them with trisomy 13 - and if there is anything I can do for you - any questions I can answer, or anything else you need, please let me know. You can reach me by my email: laurie-beth@livingwithtrisomy13.org or through the LWT13 site.

My thoughts are with you and your family...

Laurie-Beth Brennan RN GC-C

www.missfoundation.org
www.livingwithtrisomy13.org
www.perinatalhospice.org

Jarrod J. Williamson, Ph.D. said...

Timothy:

Long time since I have commented. You are in our (Eva and I) thoughts and prayers.

Regardless of what happens, everything is going to be okay.

Kenj said...

Just found your blog through a search of "things to do with kids in northern california". I think we've exhausted them all and were looking for a little road trip idea for the day.

Anyway, glad to find you here, so close to us- we're down the road outside of Turlock. The story of your sweet baby growing right now has touched me, and I'll be praying for you all.

We walked a precarious road this summer as we watched our then-7-week-old fight for his life. God was very, very near. We grew spiritually by leaps and bounds, and we would never trade that trial for a stagnant existence. May God cover you with His peace that passes all understanding.

~Kendra

Kenj said...

So, after I posted my comment above, my husband said, "I know that guy! Tim and his wife post on my blog." Well, small blog world!

Praying for you all.

Daniel Macintyre said...

You're in my prayers too.

Anonymous said...

Tim & Tonya,
You are not alone.. please know that.
There is a T13 (Trisomy 13) world out there. Many with happy, happy children and many with memories of their beautiful children.
I was contacted also from the lwt13 site because our son Josiah, will be 11 in Jan and has holoprosencephaly. He rides a bike, crawls up and down the stairs, on and off the couch, he goes where he pleases, he uses a walker and plays on a computer at school. He is a full T13 and has just about everything on the "diagnosis list". We adore him, as we do our other children. If you find the time, you can see him at: http://www.trisomy13survivors.com/
We know the fear, heartache, and all that you are feeling, we will keep you in prayer.
All the doctors said he'd be a "vegetable"... and you know what? They were right! He is our sweetpea!!

Anonymous said...

I type Holoprosencephaly in my search box once or twice a month, and this time I happened upon this blog. I see that it was written last year, but I felt compelled to comment on it. I have a three yr old daughter who was diagnosed with Lobar Holoprosencephaly, Choanal Atresia, and Diabetes Insipidus three days after she was born. My husband, Tim, and I had decided not to have the amnio with Eyvonne. The decision was mad early on in both pregnancies that we would pass on the amnio due to the spontaneous abortion that I could have suffured.
I prayed before my first born for the Lord to make me ready, and bless my womb. I had four miscarriages before then but I held on to my faith. Lil Tim was born months later and healthy. I panicked from time to time and when he was born I knew he was my miracle. Three days before Lil Tim turned two, I drove his little sister home from St. Louis, she was seven weeks old.
God is so good. I love the chance to get to express that, but I love it even more when someone else expresses it.
Coincidently there is another little boy in my town of 6500, he has Semilobar too. His name is Frankie and his mother was told he wouldn't live a day, then six months, then to be a year, and when Frankie turned three we celebrated. Blessings to your family Tim
angelsincere@live.com

Anonymous said...

My son's date of birth is Nover 2008. At 28 weeks of pregnency, we found that our baby will not be normal. He will have lip and cleft pallette, absent nose, abnormal genetilia, heart and kidney problems. Karotype (Amino test) was normal and he was not trisomy. The brain is not normal. He has semi-lobar holopresencephaly. Now he is almost 7 months old and seems to have all the disease which people described above. He also has seizure. The most difficult thing as a parent is to see our kid suffering with seizure. When he has seizure attack, we feel helpless. May God help us.

Anonymous said...

I AM THE MOTHER OF A DAUGHTER THAT I LOST TO THIS SAD DISEASE 9 YEARS AGO YESTERDAY,, I HAVE BEEN SO DISTRAUGHT, I AM SO GLAD THAT I READ YOUR STORY AND KNOW THAT I AM NOT ALONE IN MY PAIN. CINDY/LOUISANA

Claudia Santamaria said...

I read, your blog, & all I can say, is that even though we don't know why our Lord does the things He does, He has a reason. As painful as it can be sometimes.

I am 23 years old & I was born with Lobar Holoprosencephaly. I was born with cleft lip/palate & central incisor, (just 1 front tooth) & a mild form of Spina bifida. I know how it feels from the kid's point of view of constantly being under the barrage of Drs, Specialists & therapists.
Mine is also T13, passed down from my mom. I have a brother & a nephew that also show signs of HPE, but just because we have that diagnosis, doesn't mean that we'll stop fighting, it just means we have to fight harder to achieve our goals.
I now have a lil 5 yr/o girl that doesn't show any signs of having HPE, but when i was pregnant with her, all my doctors said that she had 95% chance of being born with Lobar HPE.
My geneticist just said that even though all the Drs in the world can say that my child has 95% chance of coming into the world with an abnormality, God reserved the last 5% for His final say.

May the Lord Bless you & your family.

P.S. thank you for sharing your thoughts with everyone. It helps us feel that we truly aren't alone when it comes to dealing with HPE.

Rachel said...

Hi There,

I found your post through a google search. My 6 month old daughter was just diagnosed with Semilobar Holoprosencephaly. Needless to say, it's been quite the week!

I wonder if you'd be willing to get in contact with me or my husband if you think you have any thoughts or anything to share with us. My email address is Rachelpatten09@gmail.com. We are finding it challenging to get reliable information or support because it seems as though this is pretty rare.

Thanks :)
Rachel

Tabatha F. said...

I want to thank you for not terminating the pregnancy. Me and my husband were in the same position almost two years ago. Exact same disease. JoJo had Semilobar Holoprosencephaly and Trisomy 13. The doctors told me that he wouldn't live more than two days and that the pregnancy was threatening my life. Unfortunely we decided to terminate the pregnancy. I have so many regrets. I am a Christian as well and regret not having faith and killing my baby. I sometimes hate myself for what I did. I had three days to decide what I was going to do with the pregnancy. I was three days from 20 weeks and I always wonder what would have happened if I missed my ultrasound appointment that day. By law I wouldn't have been able to terminate my pregnacy. I had nobody supporting what I needed and wanted to do. All of my family told me that I had to do it. I had three kids before JoJo and everyone told me it wasn't worth me losing my life. I told my husband that it was going to kill me either way. Whether I terminated the pregnancy or decided to keep JoJo. Today I regret it so much...so much...and I wish you the best with your baby. I will pray and pray for you and your family. God Bless..

Anonymous said...

my child was just born and i think he has semilobar holoprosencephaly reading everyone's comments has helped me prepare for the worst and it would really help if i had someone to talk to who has been through the same thing... PLEASE CONTACT ME MY NUMBER IS 318-609-8049

Anonymous said...

So glad u shared your thoughts. I have a little boy who is now 13 months old, whom at 3 months was diagnosed with semilobar holoprosencephaly. My last ultrasound at 18 weeks didn't show any signs of HPE. Other than not being able to talk, crawl, sit up on his own, or walk, he is the happiest baby I know. Kids with disorders surprise you. If anyone wants to talk, u can contact me by email lilducklin_2004@yahoo.com.

Anonymous said...

I know what your going thrwo i lost my son two feb 12,2012 he was born feb 11,2012 he had what your little girl had i was reading it and it was like i was hearing it form the doctors all over agin

babyneedhelp said...

I just found out about this issue with my baby. We have 3 days to decide whether to keep her or abort her. Please contact me at babyneedhelp@gmail.com. Is there any chances that she will have any life?

Anonymous said...

Hello everyone, my name is Monique. I have a 7 month old son who was diagnosed with semilobar holoprosencephy. He does not have any trisomy or anything according to all of his chromosome and genetics tests. Everything came back normal. I am praying for everyone that's going through this or has been through this, and may God continue to be with us all. I just want to know what to kind of look forward to in my for my sons future. If Any one of you have a baby with the same diagnosis, and your baby is living and doing well or close to it, PLEASE,PLEASE give me a call 901-859-0274

Anonymous said...

My grandson had this too. My daughter went on to deliver a perfectly healthy boy the following year but this broke all of out hearts. We lost our boy. My heart goes out to you