The Most Common Rare Syndrome You've Never Heard Of

Friday, February 1, 2013

Christa Flanagan--Baby Eden

I found out I was pregnant with my second child around my son’s fourth birthday.  It was not a happy event.

I was almost 41 years old.  My son is high functioning autistic, but his special needs had taken a toll on my energy in the preceding years.  I had completed a difficult dissolution of a relationship with his dad, starting when my son was three months old, and had only briefly entered into a very short relationship with another man.  I was single, with no financial means to properly support us.  And now, I was unexpectedly pregnant again.

I did not know what I was going to do.  I made an appointment with my doctor for early January, 2012.  Until that time, I decided to wait and see what Mother Nature had planned for me.  Perhaps this would not be a ‘sticky baby’.

The baby stuck, and I was referred for a high risk ultrasound (because of my age, and because I had miscarried prior to the birth of my son) in early February.  By that time, I had, with psychological support, decided to continue with the pregnancy, irrespective of finances and life obstacles.  When I went to my ultrasound, I chatted with the technician and the antenatal specialist.  I noticed that the technician was watching the monitor for the results, and kept turning and looking at the doctor.  When the ultrasound was concluded, the doctor took me into her office and closed the door.

They had observed multiple issues with the baby.  She had cysts in her brain; abnormalities in the heart; her kidneys were grossly enlarged; her fingers did not seem to be properly positioned; and she had severe cystic hygroma (build up of lymphatic fluid), on her neck.  The doctor advised me that this could be one of several different conditions, and briefly reviewed them. 

I was under severe strain and completely broke down in the office.  I did not know what to do.  This was an unexpected situation – first coming to terms with the pregnancy, waiting to see if I would miscarry, making the decision to have the baby without spousal support, and now, finding out there was something seriously wrong and having to reconsider all my options again.

We decided to proceed with an amniocentesis.  It was difficult waiting for the results, but when they all came back, they were clear for the usual disorders.  I was again thrown into a state of uncertainty – what did this mean for the future of my child??  How would I cope with all of this alone??  What should I do??

I consulted with medical genetics in our region.  They reviewed my family’s health history and saw no evidence of other possible conditions.  I also spoke with the neonatologist at the hospital.  She advised me that the kidneys were continuing to grow at an alarming rate.  There was a strong possibility that they would absorb too much of the amniotic fluid and thus the baby’s lungs would not properly develop, and in this case, post-birth death was inevitable.  

I decided to take it week by week.  As the pregnancy progressed, the baby’s brain cysts diminished.  Her hands seemed to be OK, although she was holding her fingers in an odd manner.  I met with a cardiologist who stated that although there were abnormalities, they were not extremely severe and seemed to be stabilizing.  Her kidneys also stabilized, although they were still distended. 

I was going for bi-weekly monitoring at the hospital, which took a long time, because I had also developed a condition where I was producing too much amniotic fluid (I was actually drained twice during the pregnancy).  The baby was swimming and swimming constantly so a thirty minute session turned into two hours with this baby!  At 36 weeks, I went for my monitoring, and they could not get consistent results.  I went back the next day, and the antenatal specialist came to speak with me.  Although it was not a medical ‘emergency’, we decided that due to the sudden disparity in results, it would be best if the baby was being monitored outside of me.

Our goal during the pregnancy was for Eden to bake in my belly until the end of June.  On June 29, I was induced, with an eventual emergency caesarean being performed.  Eden Grace Christine was born at 4:22 am on July 1, 2012.  She had met her first goal – she had baked until the end of June.  Surely this meant that everything would be all right.

The birth was very difficult and Eden was taken to NICU immediately.  I did not realize it at the time, but it was four minutes to her first breath; she had to be resuscitated repeatedly; and her APGAR scores were very low (two/three).  She remained in NICU all day.  I wanted to see her, but was advised to not get up due to the risk of hemorrhaging.  I waited until my son came to visit that evening with his dad.  I said, “get the wheelchair, I’m going to see her.”  He wheeled me into NICU with my son.

When we entered, I noticed the nurses were looking at each other as we approached.   When we got to her incubation cot, she was completely swaddled, with only facial features showing.  I peered anxiously at her.  She seemed to look normal.  I was extremely relieved.  My son reached in and tickled her foot and told her he loved her.  It seemed that all my worries were alleviated.

I went back to my bed and after my son left, tried to sleep.  In the middle of the night, the NICU nurse came to get me.  The neonatologist was in NICU and wanted to see me immediately… 

The nurse got a wheelchair and took me in to see the neonatologist.  She greeted me with “I don’t think you understand how serious this is” and proceeded to review a litany of problems the baby was having.  She was having both silent and visible seizures, and her brain was growing too quickly.  She had apnea – her heart and respiration were stopping intermittently.  Her liver and spleen were grossly enlarged, and they didn’t know why.  Her kidneys and bladder were anatomically incorrect.  She was holding her hands and fingers in an unusual position.  She had jaundice.  She was not responding normally.  She was struggling to survive.

I looked down at my little baby, swaddled in an incubation cot.  There were tubes everywhere, monitors blinking and beeping.  I was in a bad dream – no, I wasn’t, this was reality.

The next morning when I went in to see Eden, she was not swaddled.  I froze in horror when I saw her little body exposed for the first time.  She was completely puffed up and swollen.  She looked reptilian.  Her ear lobes were so swollen they were touching her shoulders.  Huge beads of yellowy fluid were growing out of her pores and running across her skin.  She was shaking; she was trembling; you could see her little chest trying and trying to push up with her breath.  I stood beside her cot, and put my hand in and stroked her head.  I started to cry, silently.  Huge tears ran down my face and I could actually hear them plop on the floor.  The nurse came over and I said, “she doesn’t look good”.  She just looked at me and stood there, in silent agreement and comfort.

I went back to my room and cried, and cried, and cried.  I did not want my baby to suffer like this.  My whole being, every ounce of myself, was in pain.

After this, I felt myself change.  I wanted nothing to do with this baby.  I did not want to see her.  I did not want to be with her.  I did not want to hear anything about her.  While I had no real intention of abandoning her, I recoiled at the thought of having anything to do with her.  I forced myself to go into the neonatal unit and hold her.  The first time I held her in the rocking chair, every hair on my arms and the back of my neck stood up; every fibre in my body was rigid; I walked away with a huge jaw and head ache.  I forced myself to get onto a schedule where for three days, I would go and hold her for an hour at a time, morning, afternoon and night.

By the end of the second day, I was able to look past the tubes, her pain and suffering, and see her features.  Those comical eyebrows – long and unruly.  The tiny, transparent fingers – little veins no bigger than a pencil mark.  Little toes, so long that and curled under, touching the bottom of her foot.   The rows of curls, plastered to her head.  A turned up nose and rosebud lips.  The scrunched up newborn face, a little monkey and little old man at the same time.  I felt my heart start to crack.  By the end of the third day, I had started to love this baby and vowed to do what I had to so that she would not suffer.
Eden spent 25 days in NICU.  Over that time, she got off oxygen, started on phenolbarb for her seizures, adjusted to tube feeding, and was also breastfeeding as well as she could.  She had made great gains, but little did I know our adventure, with lots of setbacks, was just starting.

The month and a half after discharge was like being in baby hell.  I was the walking dead, breastfeeding, tubefeeding, administering medication, changing diapers, and tending to my son.  The doctors still did not know exactly what was wrong with Eden, and an appointment was scheduled with medical genetics for early September.  Between discharge and the genetics appointment, Eden’s health started taking a down turn.  She started vomiting intermittently.  Her stools were completely liquid.  Her colour was poor, her face drawn, black circles under her eyes.  Her disposition even worse.

When we eventually attended the genetics appointment, the geneticist said she thought that Eden was either a Noonan’s or Cardio-facio-cutaneous (CFC) child.  We would have to wait until the results came back to be sure.  On our trip back home from this hospital, Eden got very sick and started vomiting incessantly.  She was admitted to another hospital and transferred back to our home hospital, where she was diagnosed with septicemia and having a UTI.  She spent another ten days in hospital, and although she did not at first respond to the antibiotics, eventually she shook off this first medical scare and was sent home on a prophylactic antibiotic.

The next six weeks were a blur of appointments, and eventually another downturn in Eden’s health.  She was taken off the phenolbarb, which was positive.  She had started to gain weight while in hospital, but about two weeks after discharge, it tapered off, and then she started losing again.  The incessant vomiting started; the liquid, foul smelling stools; and her disposition again took a turn for the worst.  She didn’t appear to be able to see anything; her eyes were rolling constantly.
She had terrible diaper rash; her skin was ulcerated and sores getting deeper.  I tried every possible solution; every barrier cream, keeping her bottom dry and in the sun; bathing her, not bathing her.  I could not get it cleared up.

And to make matters worse, she would NOT keep the tube in.  She would rub her head, sneeze, cough, vomit, grab it out.  If I turned my back, went to the bathroom, or left her for more than a few seconds, she would have that tube out.  I was constantly running to the hospital to have it put back in, as I couldn’t do it myself due to her high, narrow nasal passages.
In November, Eden was again hospitalized with a UTI.  She responded to the antibiotics in five days, and was discharged on a higher dose of prophylactic antibiotics, as well as iron.
We again went home, and started this routine again.  Weight up; weight plateaued; weight down.  Stools, diaper rash, and head to toe eczema.  Eden cried incessantly.  The only way to keep her calm was to hold her very still, and tight, all day, all night.  I thought I was going to completely lose my mind, between caring for this baby and trying to give my son the attention and care he required.  Going to appointments.  Waiting for weekly weigh-ins with extreme anxiety.  Not being able to understand why she was doing so poorly, when she was eating.  I was starting to lose my grip.

In January, we had a consult with medical genetics via teleconference.  When we started the discussion, I was sitting back on the couch.  By the end, I could see myself on the screen - I was leaning forward, elbows on knees, mouth hanging open.

The geneticist said that Eden had some duplicated material on chromosome 22.  It was an uncommon finding, and there was limited information in the medical literature, so the significance of this was not clear.   She also had a specific mutation in the NRAS gene that had not been reported in the literature before.  Because of this, it was clear that she was a RASOpathic child.  She had some physiological characteristics of Noonan’s Syndrome, but also some of CFC.  The diagnosis was not clear, and as such, there was no prognosis.  The only things they could say was that her physiological development was going to be significantly delayed, and that they had no idea regarding intellectual development.

I was dumbfounded.  I had been waiting for seven months for a firm diagnosis, so I could know what gene was disrupted, and the extent of it, so that I could have some expectation for her development and treatment plan.  I was completely shocked.  My baby did not ‘fit’ into any group.  The doctors were unfamiliar with her condition – the children’s hospital had never seen this type of thing before.  I was scared and upset.  How could I be sure my baby would get everything she needed to reach her full potential?  What was going on with her health?
By mid February, Eden’s health had continued to go down.  I was beyond frantic.  For four days, I tube fed her drip by drip manually.  I was not sleeping at all, just holding and trying to feed my baby.  After this particular weekend, she was admitted to our local hospital and then transferred to the children’s hospital by ambulance.  This trip normally takes five hours; due to a snowstorm and health complications during transit, it turned into an 11 hour trip.  By the time we got to this hospital, I was exhausted.  She again had septicemia and a UTI.  I spent the next three days trying to get myself together.

We spent two weeks at the children’s hospital.  Eden had consults with nephrology, urology, immunology, hematology, opthamology, endocrinology, cardiology, and so many others I can’t remember.  She had minor surgery on her ureters (she has four ureters instead of two; and two of them were completely blocked).  She had adrenal insufficiency.  But overall, she was now going to be followed by specialists every two months for the long term future.  I was so relieved and happy.  Finally my baby was going to be OK.
Eden is now almost nine months old, but physiologically is at about a four month development stage.  She is transitioning to a bottle (whether she wants to or not   ).  She is still not growing the way she should, even according to the Noonan’s growth chart.  She has had extensive brain and eye testing, and it seems that everything is wired and firing, although she does not track.  She receives physiotherapy every two weeks to develop body awareness and movement.  She will have more brain testing, as it appears her adrenal insufficiency is originating in her brain/pituitary gland.  She is being followed closely by all her specialists.  For a nine month old baby, she has quite a full medical file.

Eden’s health is up and down, seemingly daily.  I truly am at a loss to explain why she is not gaining any weight at all.  This is the last big piece of the puzzle I must solve immediately.  But I am so tired.

I am looking ahead into the future, and I don’t know what I see.  I hope I see a baby that is growing, albeit slowly.  I hope I see a baby who starts to laugh and smile and respond to her mom and big brother.  I hope I see a young child who can see and move and walk.  I hope I see an older child, healthy and happy.

I live in hope.  I hope you do too.


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