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A Year in the Life of a Caregiver of a Child with a Rare Disorder

Posted by | 2:10pm on Wednesday, November 12, 2014

To say it’s been a whirlwind would be an understatement. 

Congenital diaphragmatic hernia (CDH) occurs between approximately 1 in every 5,000 to 1 in every 2,000 births.  There is a 50% survival rate for babies born with this birth defect.

By definition, a rare disease or disorder affects fewer than 200,000 Americans at any given time.  There is some debate as to whether a congenital diaphragmatic hernia is rare, but since it’s on the Global Genes RAREList™, we’ll consider it rare for the sake of this blog post.

But what’s truly rare is having 2 boys with this birth defect, as I do.  And with the 50% survival rate, both survived.

In the Beginning

Things started off pretty rocky when we arrived at the hospital for our scheduled C-section to have our 2nd CDH son as there was a miscommunication between the Maternal Fetal Medicine group (MFM) and the anesthesiologists—the only way our son would be delivered on his scheduled C-section date was by using general anesthesia to sedate my wife.  Our other option was to have an MRI to determine if my wife had any tumors near her spine due to her neurofibromatosis.  The MRI route would mean we’d have to come back the next day for the C-section.  This just added to the already high stress level, knowing that our son would only have a 50% chance of survival and would be whisked away to the NICU within minutes of being delivered.  This also forced me to enter into caregiver and advocate mode for my wife and yet to be born son.  After a lot of “discussion” with the delivering doctor regarding our options and how this situation could have been avoided, my wife was transferred to the OR to be put under general anesthesia.

I was ultimately stuck in a room by myself, dressed in scrubs and hoping that I’d be allowed in to the OR to see my son.  But no one ever came to get me.  Eventually my wife, still heavily sedated, was brought back in to the room with me.  Neither of us had seen our son at this point.  Eventually, he was brought into the recovery room already intubated and on a manual ventilator.  A few minutes later, he was wheeled out and transported to the NICU

7 Weeks in the NICU

The next 7 weeks were pretty much a blur but consisted of:

  • Visiting the NICU daily to see our son
  • Surgery at 3 days old to correct the diaphragmatic hernia and move all his organs back to their proper location in the abdomen
  • Meetings with neonatal nurses and doctors
  • Meetings with our son’s pediatric surgeon
  • Calling the nurse that took care of our son every couple hours when we could not physically be there
  • Trying to wean our son off of pain medicine, oxygen support, and the ventilator
  • Being extubated only to be re-intubated 2 hours later
  • Being told that there was some cause for concern as our son’s liver was enlarged
  • Talking to the nurse and neonatologist on call about ways to relax our son since his heart rate was elevated, not sustainable for the long-term, and definitely not conducive to extubation
  • Holding our collective breath that extubation would “stick” this time
  • My wife being allowed to hold our son for the first time after over a week but it lasting only a couple minutes as our son got too agitated resulting in his heart rate becoming elevated
  • Being able to finally hear him and his cry was so hoarse from having tubes in his throat for so long
  • Trying to bottle feed when all nutrition had been delivered by an IV or an NG tube until then
  • Disagreeing with the speech therapist regarding her methods of how to encourage bottle feeding while helping our son remember to breathe while doing it
  • Bottle feeding while watching the monitors, with bated breath,  to ensure his heart rate didn’t elevate or oxygen levels decrease—making the act of bottle feeding dangerous
  • Seeing on the board, after 3 weeks, that our son finally took his entire bottle orally and didn’t need the NG tube
  • Not seeing a similar update for another 2 weeks
  • Coming to the realization that the only way our child could come home was by learning how to insert an NG tube
  • Having to physically hold down our screaming 7 week old son to practice inserting the tube and then learning how to use the feeding pump

Finally Home

After 7 weeks in the NICU, we were finally able to bring our son home.  Our first son, while having CDH, was able to come home on full oral feeds, so being dependent on a feeding tube was new to us.

Not only was our son dependent on a feeding tube because he didn’t have the stamina to take his full feeds orally, but he also needed fortified formula since he didn’t gain a lot of weight in the NICU.  As a result, his weight was something we needed to watch very closely.  Our pediatrician was already a little concerned from the first time she met him.

Adjusting to Home Life

Children born with CDH are often compared to snowflakes because no 2 are affected by the birth defect the same way.  My 2 boys illustrate that point perfectly.  My oldest had no diaphragm at birth, was in the NICU for 29 days, and came home without a feeding tube.  My youngest had a partial diaphragm, was in the NICU for 7 weeks, and came home on an NG tube with stamina and weight concerns.

The next few months looked something like this:

  • Getting so ravenous, my son forgot how to drink from a bottle which resulted in most of his bottle having to be fed via the NG tube
  • Praying that our son didn’t pull out his NG tube because we didn’t want to have to go through the process of reinserting it
  • Follow-ups with the pediatrician to check on weight gain (or lack-of)
  • Having to make a decision as to whether to wake him up for a feeding in the middle of the night or just let him sleep and “tube it” since “normal” daily activities like breathing and drinking a bottle tire him out so much
  • Setting my alarm to wake up at 2:00 am and 4:00 am to start his overnight feedings
  • Getting an error message on the feeding pump and having no idea how to fix it quickly which resulted in manually or gravity feeding the remainder of the formula to our son
  • Getting a call from my wife that our son pulled out his feeding tube and she was having trouble re-inserting it
  • Re-inserting the NG tube numerous times and checking the placement of the tube before every feeding to prevent aspiration
  • Deciding not to re-insert the NG tube (after our son pulled it out yet again) and taking our chances that he’d still get enough volume and calories to maintain his weight
  • Visits to the ER due to the stomach flu and to rule out re-herniation which can be life-threatening and has similar symptoms
  • X-rays to verify that the diaphragm did not re-herniate and hearing tests because loss of partial hearing is common with children that have CDH
  • Trying to carve out time to spend with our older son, so he doesn’t feel neglected

 Settling in?

My youngest is now 14 months old and my oldest is 4 years old.  To say it’s been a whirlwind would be an understatement.  On top of settling in with our new “normal”, as is common when having a child with a rare disease or disorder, my family is extremely active in the CDH community by providing support, raising awareness, and doing whatever we can to ensure families realize that they don’t have to travel this roller coaster alone.

However, as I said last year in my blog about being a dad and a caregiver , I wouldn’t have it any other way. My wife and my kids are my life. If I have to play the role of caregiver, then so be it. It isn’t going to be easy. In fact, I expect to go through periods where it will be downright hard or near impossible. But as a family, we will find a way. We always do.


About Neil Rubenstein

Neil has more than 15 years of experience in integrated marketing and analytics across a number of different industries. Neil is responsible for online advertising, analytics, and measurement across all Siren clients. Part of his job is to ensure that all online advertising is implemented with analytics and measurement in mind. Neil is passionate about using the internet and social media to encourage deeper relationships with patients, caregivers, and HCP’s. …

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  • Gita Khoshvaghti

    Hi Neil thank you so much for all the information you put on this blog. My granddaughter born four months ago with Sevior CDH ( no diaphragm ) at John Hopkins in Baltimore . She was in NG tube and her parents decided to take The NG tube out and feed her with battle . Some days she taking the feed by bottle OK and some days she is not . Unfortunately she is not gaining weight as much and some days even she is losing weight because she’s not taking the bottle. It worries me very much that her organs doesn’t develop . Do you have any suggestions ? Should we put back the NG tube ? Doctors has said that she cannot have the NG tube for long and if she doesn’t take the bottle by mouth , they need to do the surgery to put the tube in her stomach .. I really appreciate if you can call me .
    Gita 301-461-9422. Thanks

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