This Isn't Everything You Are

On Monday we had our full day evaluation at CHOP.  I shared the outcome of that visit in my last post but was not able to give details.  The details don’t seem so important now that we know treatment is not an option.  All the research doesn’t mean at much when you are looking at the scans of your child that is too sick for the treatments to work.  However, I do want to share the details of the visit for those who want to know.

The day started at 7:00 am with registration, about fifteen minutes later we went to ultrasound where we stayed until 10:30.  For over three hours the tech and radiologist took hundreds of pictures of each and every part of Mira’s little body and measured each piece.  Next, we met with a genetic counselor who went over a detailed family history and said she felt sure that when our microarray comes back we will find the medical answer to why Mira has so many developmental concerns.  If that test does not show anything, we can get a full map of her genes.  This will give up more information.  After genetic counseling, we went to fetal MRI for about an hour.  They let me pick a station on Pandora to listen to with noise-canceling headphones (I picked Snow Patrol), so the noise was not too bad.  Laying still was difficult. After the 3 hour ultrasound, I was pretty stiff.  After the MRI it was 12:30, so we had an hour break for lunch.  Next we had a fetal echocardiogram, basically another hour long ultrasound, but just looking at Mira’s heart. When that was complete, the fetal diagnostic team met to discuss Mira’s test results while we waited in the waiting room.  Around 3:30 we were called into the consultation room where the doctor and nurse coordinator sat down and explained all the test results to us.

Mira has quite a long list of medical concerns. The echo showed a Ventricular septal defect (a hole in her heart).  The MRI showed that she has cervical meningocele (a neural tube defect in the neck due to abnormal vertebrae, similar to spina bifida but more severe). She also has a single umbilical artery (there should be two) and an umbilical cord hernia (bowels are in the umbilical cord).  Her feet are clubbed. Throughout the three hour ultrasound, Mira’s stomach and bladder never filled and emptied and she has low amnionic fluid.  This tells us that she does not have a swallowing reflex.  This brings us to the most severe issue, the hydrocephalus (fluid on her brain) is getting continually worse.  At this point that parts of her brain that have developed are pushed up against her skull and impaired.  Hydrocephalus is diagnosed when the ventricles of the brain (the parts that hold fluid) measure greater than 10 mm and it is considered severe at 15 mm.  Mira’s are 22.1mm and 18.7 mm. Her head measures two weeks ahead of where it should.  This is also affecting her brain stem, which is small and underdeveloped. The hydrocephalus is the reason she is not swallowing, it means her brain stem is so compromised that will not be able to regulate anything that our bodies do automatically: regulate temperature, swallow, regulate heartbeat, and, most likely, breathe.  She will not be able to control her muscles.  

If we chose to have surgery for Mira’s bowels, brain, and heart and she somehow survived the surgeries, she would live her life on ventilator, with a feeding tube, and unable to move.  It would be similar to living in a comatose state, but awake.  She would have a life of pain and suffering.  If she even survived surgeries.  This is why we have chosen to only provide comfort care to Mira.  The doctors will ensure she never feels any pain.  We will ensure she knows only love.  We will meet her and hold her and make sure she feels our love with however many minutes we get with her.  We will spend the next three months filling her life with love.  We will talk to her, sing to her, take her to places we love, and read to her.  

We don’t get to talk about Mira much other than to discuss her medical concerns.  But hydrocephalus, heart defects, and umbilical issues do not completely define our daughter.  The medical chart is not everything she is.  She is strong, her heart beat is beautiful and sounds perfect.  She is stubborn.  When the techs try to move her, she swats her hand at them where they push on me.  She is peaceful.  She wiggles herself into a little balls and holds her ankles in her tiny hands.  She is loved.  She will know more love than some people know in a lifetime.  Over the next three months until Mira is born, Joe and I plan to get to know everything we can about her.  She is so much more than the labels the doctors have given her.  She is a child of God.

“And in one little moment, it all implodes

This isn't everything you are

Breathe deeply in the silence, no sudden moves

This isn't everything you are

Just take the hand that's offered, and hold on tight

This isn't everything you are

There's joy not far from here, I, I know there is

This isn't everything you are”

(Snow Patrol)

CHOP Visit

Yesterday we went to CHOP and spent the day (7am-4:30pm) in tests an consultations for Mira.  Unfortunately, we did not received good news.  Mira’s hydrocephalus has progressed further and is affecting every part of her brain, including her brain stem.  They found evidence that Mira is unable to swallow in the womb, meaning that the brain stem is impacted to the point that she won’t be able to breathe, have a gag reflex, eat on her own, or any of the things our bodies do without us thinking.  Performing surgery would not change this, it will only make her suffer.  Mira will not be coming home with us.  We will deliver at CHOP in early/mid December and spend whatever time she has with us holding her and showing her love.  The doctors will make her comfortable so she feels no pain and does not suffer.  We will go back to CHOP in about for 4 weeks for follow up ultrasounds, as they need to monitor her head growth to pick an exact delivery date.  At that time we will meet with CHOP’s palliative care team to create a birth plan and meet the team that will care for her and perform my C-section (which is needed due to Mira’s condition).  I can probably provide more details for those who want to know at another time, but right now Joe and I are not up to that.  All that really matter is that our daughter will not be coming home with us.  We ask for your continued prayers.  

The Importance of a Name Can Never Be Underestimated

We finally got some good news today!

Our genetic counselor called with the results of the karyotype test (part of the amniocentesis).  A Karyotype test looks at the number of chromosomes in the cells.  In a typical person, there are 23 pairs of chromosomes. Extra or missing chromosomes cause many different problems.  For example, the most commonly known anomaly is having three of chromosome 21.  This is called Down’s Syndrome.  In our baby they were especially looking for Trisomy 18 or 13.  These disorders can cause similar problems to what our baby is showing.  Both are fatal diagnoses.  Our baby has two of each chromosome!  This test came back perfectly normal.  This is very good news.  While it does not give us any answers or change anything, or make the situation any less serious, it does rule out some very bad things.  Next, they will look for mutations within the individual genes.  Those results may take a while.  Also, our baby has two X chromosomes, that means we are having a girl!  

We are so excited with these results.  It feels amazing to have a little good news for the first time.  It is also indescribably wonderful to have some normal news to share.  “It’s a girl!” is so much better to share with people than what we having been having to tell people.  

This also means we get to share the name of our baby girl! Miriam Jordan.  We chose this name for very specific reasons.  Miriam is a Hebrew name with a debated meaning of either “rebellion” or “wished for child”.  We think both meanings are perfect.  Miriam is certainly very wished for.  She also is a rebel already!  She proved doctors wrong within her first eight weeks of life!  In the bible, Miriam is Moses’ sister and serves alongside her brothers to deliver the Israelites from Egypt.  Miriam was an extremely strong woman and a fighter, even from her childhood when she help save Moses.  We chose Jordan, after the Jordan River. The Jordan River is where the Israelites crossed into the promised land and where Jesus was baptized.  Our little girl has a strong name to inspire her fight to live!  We will call her Mira for short, meaning wonderful in Latin, or miracle in other cultures! 

Currently, the most important thing you can be praying for is that Mira will show much more brain development during our MRI at CHOP on Monday.  We hoping to leave CHOP on Monday with some answers about Mira’s prognosis.  Thank you for all your prayers, we will continue to tell Mira how much she is loved already!  

Frequently Asked Questions

1. What is Chiari III Malformation?

This is hard to explain.  NIH has a fact sheet to give information https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Chiari-Malformation-Fact-Sheet.  Here some basics copied from the site.  Keep in mind we do not know for sure yet that this is what the baby has.  The most concerning finding in the baby is the large amount of fluid on the brain and minimal brain development.  This diagnosis could be the cause of the hydrocephalus. 

“Chiari malformations are structural defects in the base of the skull and cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit above an opening in the skull that allows the spinal cord to pass through it (called the foramen magnum). When part of the cerebellum extends below the foramen magnum and into the upper spinal canal, it is called a Chiari malformation (CM). Chiari malformations may develop when part of the skull is smaller than normal or misshapen, which forces the cerebellum to be pushed down into the foramen magnum and spinal canal. This causes pressure on the cerebellum and brain stem that may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)—the clear liquid that surrounds and cushions the brain and spinal cord. The CSF also circulates nutrients and chemicals filtered from the blood and removes waste products from the brain. Type III is very rare and the most serious form of Chiari malformation. In Type III, some of the cerebellum and the brain stem stick out, or herniate, through an abnormal opening in the back of the skull. This can also include the membranes surrounding the brain or spinal cord. The symptoms of Type III appear in infancy and can cause debilitating and life-threatening complications. Babies with Type III can have many of the same symptoms as those with Type II but can also have additional severe neurological defects such as mental and physical delays, and seizures.”

2. What can I do to help?

Pray.  

Prayers are what we need most.  We both have complete faith that God could heal our child.  We don’t know if that is his plan, but an army praying for us can only help.  Prayers for miraculous healing. Prayers for peace and health for me in this time so I can best care for baby.  Prayers for Joe to stay strong but still ask for help when he needs it.  Prayers for finances to work out between missed work and medical appointments. Prayers for our family to find faith and peace as well.

Listen and check in.

Texts and messages and cards checking in are comforting.  Calls can be overwhelming, especially when information is new.  Neither Joe nor I love talking on the phone.  When talking to us, just listening can be the most helpful.  Telling us what we should be doing differently or telling stories about similar things that have happened to you or someone you know can be overwhelming.  Asking how we are doing when we see you in person is appreciated, even if we don’t have a good answer.  We are not pretending this isn’t happening, and we don’t expect you to either.  

Avoid unhelpful sayings.

People don’t know what to say to us.  That is totally okay. There is nothing perfect to say.  I don’t know what to say.  Joe's doesn't know what to say. The professionals don’t know what to say.  Saying you don’t know what to say is okay, even appreciated and validating.  When people don’t know what to say, they tend to try to come up with something by relying on common sayings.  Sometimes these can (very unintentionally) be frustrating or hurtful to hear.  An example is “God doesn’t give you more than you can handle.”  This is simply not true.  We cannot handle this.  God never makes this promise in the bible. God is helping us handle this, He does promise that.  We know people say this because they don’t know what else to say.  But, honestly, it is not helpful.  Here is a great article a friend (thanks Christina!) shared with me about this saying 

https://flawedyetcalled.wordpress.com/2016/06/01/the-day-god-gave-me-more-than-i-could-handle/.  Another example is “Maybe God just wants this baby now.”  God will have this baby whether he/she lives or not.  His/her life will be dedicated to Him.  While it may be in God’s plan to have this baby in heaven now, we just don’t need to hear this.  Lastly, it is not helpful to tell us you completely understand what we are going through because you have had miscarriages, faced infertility, had a sick child, etc.  You cannot possibly understand what we are facing.  We cannot possibly understand what you have gone through. Every situation is completely different. If you have said anything like this to us, do not feel bad.  We know everyone says what they think will help.  Or just the only thing they can think of in the moment.  We are not angry.  We just want to tell you what we need to hear, or not hear.  Again, if you have said these things, it is okay.  We know everyone means well! 

3. What are the options for treatment?

We don’t really know yet.  We are in the middle of a lot of waiting.  Basically when you find out your unborn child has a birth defect of any kind there are four general options.  The first is terminating the pregnancy.  This is not an option for us.  We will give this baby a chance to live.  We will spend as much time with him/her as possible, even if the only time we get is while I am pregnant. We will talk to him/her.  We will love him/her.  We will make sure he/she knows how much love there is in the world.  Even if we get a few minutes or hours after birth.  We will leave the baby’s life in God hands.  We will not chose for Him.  The next option (in some cases) is surgery before birth.  This does not seem to be an option for us due to the extensive issues.  However, we will know for sure after going to CHOP.  Next, there is surgery after birth.  For our baby this could look like repair of the spinal deformity and a shunt to drain the fluid build up in the brain.  We don’t know if this would be an option for sure yet. Again, after CHOP we should know.  Lastly, we can elect to chose palliative care after birth. Palliative care provides comfort for the baby and family, but does not treat the fatal conditions.  It is much like hospice care.  This option is what we would consider if the prognosis meant that the baby would not have any quality of life and live in a comatose or painful state no matter what treatment was given.  

4. Are you higher risk for miscarriage?

Only slightly.  All pregnancies carry a 1% chance of miscarriage after 12 weeks.  I have a roughly 2% chance of miscarriage, according to doctors.  The baby is growing at a perfect rate and the heartbeat is strong.  There are no concerns for miscarriage at this time.  But it does happen.

5. Are the concerns for the baby related to the initial blighted ovum diagnosis?

No.  A blighted ovum is a baby that is lost within the first few hours-days of conception.  That diagnosis was incorrect and unrelated.

6.  Is it a boy or girl?  Are you finding out?

We don’t know yet.  I have had 8 ultrasounds, but it is too soon to tell! When the amniocentesis results are in the DNA will tell us, and yes we will find out and will share the results!

7. Do you have a name picked out?

We do think we have settled on a name for each sex.   We are not sharing them quite yet! :)

8. Is the baby in pain?

We have been assured that since the baby's nervous system is still developing and is developing around all the malformations, that he/she feels no pain and will not feel pain during the pregnancy. 

9. Are you (Ali) at risk because you are continuing with the pregnancy?

No.  There is no risk to me at all.

10. Will this happen with future pregnancies?

CHOP probably can tell us more.  But my research makes it seem unlikely.  However, right now I have not been focused on that.  Right now all I care about is my baby.  Right now, ever being pregnant again seems like an overwhelming concept.  We will worry about that later, when/if we chose to. 

11.  How are you doing?

I used to say we have good days and bad days.  But the truth is we have bad days and terrible days.  We both have things that help us through.  We both have very supportive family, friends and coworkers.  I cannot thank my coworkers enough for covering for me on days I've had to miss, or my supervisor enough for all the support she has given.  I can't imagine going through this while worrying about keeping my job and health coverage.  Though Joe's company is small and missing work does mean lost pay, his supervisor and coworkers have also been extremely supportive and we are so thankful.  Last weekend we escaped to Dimock for a while and were surrounded by the love of my family.  This past week with me in the hospital and home sick, Joe's family has helped take care of me and made sure I had everything I needed.  For me, I like to research and get all the data and information I can so I know what to ask the doctors.  I make lists, and charts, and graphs and give myself the illusion I have a tiny bit of control.  Joe takes care of me to feel a little more in control.  He makes me stay home from work when I can't even speak coherently (good call Joe).  He takes my computer away so I can't answer emails (does he know they are on my phone too ;)) He cooks for me and cleans the house when I can't get out of bed.  We are getting by.  Thanks for asking. We are counting down the days until CHOP.  

Thanks for all the support, please ask any other questions you have.  We are overwhelmed by seeing how many people read the post I put up yesterday and encouraged by all the prayers and support. Thank you. 

Waiting for Another Miracle

After Joe and I found out we were pregnant after trying for 9 months we were so excited! Since then a lot has happened and with so many supportive people in our lives, Joe and I get a little overwhelmed with keeping everyone updated.  We have decided to start this blog to keep everyone who is thinking of us and praying for us updated.  Since some people may not be aware of everything that has happened, I'll start from the beginning.

On May 17, Joe and I had a positive at home pregnancy test! Actually we had four positive tests... I had to be sure before we got excited.  About two weeks later I had some bleeding and was sent for an ultrasound to make sure everything was okay.  The ultrasound tech found a healthy, but empty, gestational sac.  The diagnosis was a blighted ovum, which occurs when the embryo attaches to the uterine wall and a gestational sac forms, but then the baby stops developing.  I was told I should naturally miscarry, but may not as the gestational sac was still growing, if I did not miscarry I would need a D&C to prevent infection.  Our doctor was wonderful and supportive of Joe and I wanting to make 100% sure of the diagnosis.  I had bloodwork done three times over the next 6 days to monitor my HCG levels, which if the diagnosis was correct should be rapidly falling.  However, my levels were rising.  We were told not be hopeful as my body most likely did not realize the baby had stopped developing and that was why levels were rising.  We did not listen, we had lots of hope.  Many, many people prayed for us as we went for another ultrasound on June 8th.  The ultrasound tech warned us she was not allowed to give us the results, we would have to wait to hear from the OB.  As she performed the exam I watched her face carefully to see if I could tell what she was seeing.  But, she was good at her job and I couldn't tell.  I asked if she could please tell us anything, and she just said, "I can tell you I see a heartbeat."  Joe and I both cried and thanked God.  I remember walking back into the bathroom to change and falling to my knees to praise God for proving the doctors wrong.  We then had another ultrasound one week later, as the doctor wanted to see a stronger heart rate and was still cautious about saying everything was okay as the heartbeat was at the very low end of average.  The night before the next ultrasound we prayed with our small group for a heart rate of 140 bpm at the ultrasound (exactly average).   The next day the baby had a heart rate of 141 bmps.  We had a miracle baby.  The OB was no longer concerned and said she was happy that doctors were sometimes wrong! We went back to excitement over our baby and shared our news with everyone.  We started looking at cribs and strollers for fun and looked forward to our 12 week appointment when we would hear our baby on doppler.

At our 12 week appointment on July 19th, the doctor could not find a heart beat using the doppler, though she was not concerned.  Through all the earlier ultrasounds they found I had a retroverted uterus, which does not affect fertility or the baby, but makes it harder to do imaging and use dopplers.  We were told not to worry at all, they were sure they could hear the baby moving, but we were sent for an ultrasound to get an accurate heart rate.  Joe held my hand as we waited to see our little miracle again.  The ultrasound tech noted it was already my fourth ultrasound and I commented that it was the first one I was not terrified for!  I had no idea that it would also be the last ultrasound I would not be terrified during.  The tech told us there was a nice strong heartbeat and let us watch our baby kick and wave and roll around.  She gave us pictures and asked us to wait for the doctor to clear us to leave.  After waiting awhile I made Joe leave for work, as he was already late and I was so sure everything was fine and it was routine to wait for the doctor.

After waiting about an hour, I was called into another room to talk to a doctor on the phone.  The doctor explained that they saw an abdominal wall defect and I needed to see a fetal specialist immediately.  They had gotten me an appointment the next day.  After I hung up the phone the ultrasound tech asked me if I had questions. I asked the only thing I could think of, "Is this really bad?" She told me I had to wait and hear from the fetal specialist.  I could tell by her face, the doctor's voice, and the looks that the receptionists gave me that it was very bad.

The next day Joe, my Mom, and I went to maternal fetal medicine.  After a long ultrasound we sat down with the doctor who explained that the baby had a umbilical pseudocyst, not an abdominal wall defect.  This is not really a big deal.  However, the baby had severe hydrocephalus (fluid on the brain) and very little brain development.  The cyst in combination with the fluid made a genetic abnormality likely.  We needed to come back in two weeks to see if there was any change.

At the next appointment, there was still a large amount of fluid on the brain, they confirmed that the baby had one umbilical artery (instead of the usual two), and also saw a concern for Chiari III Malformation.  There are four types of Chiari Malformations, III is the most severe and extremely rare.  It is similar to spina bifida, in that the vertebra do not close completely and part of the spinal cord is exposed.  However, whereas spina bifida is typically in the lower back or tailbone, Chiari Malformations are in the cervical spine (the neck).  Chiari III Malformation have a bad prognosis, lead to hydrocephalus and other neural problems.  I have since had an amniocentesis in an effort to find out if there is a genetic mutation causing the concerns, which will give us more information about possible treatment options or prognosis.  Those results are not yet back. During the amniocentesis, an enlarged fetal bladder was also discovered, which can lead to kidney damage.  There is fetal surgery available for this, but with all the other concerns we are not sure if it will be an option for us.

Our next step is to go to CHOP on August 28th.  We will have a full day diagnostic evaluation including extensive ultrasound, fetal MRI, and fetal echocardiogram.  After this we should know more about prognosis and our options.

I am currently stuck on the couch after spending Wednesday night and Thursday morning in the hospital due to dehydration from a stomach virus, so it seemed like a good time to start writing all this.  The medication they have me on so I can keep some food down does make me pretty out of it, so forgive me if the writing is not 100% clear.  When I am back to feeling better, I may have some more details to add, but at the very least I will post again after our appointment at CHOP.  Please keep baby Ferrara in your prayers.  Joe and I are preparing for the worst, but still praying for a miracle and good life for this baby.  We have seen miracles before. Isn't amazing how much you can love someone so tiny?