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11 Jul

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(Image courtesy of http://en.wikipedia.org/wiki/Ondine’s_curse)

Have you ever heard of the legend “Ondine’s Curse?” Would you believe it could happen in real life?

Myth says that Ondine, a water nymph had a mortal lover. He swore to her that “his every waking breath would be a testimony of [his] love.” Unfortunately, one day, Ondine found out that her lover was unfaithful, and thus cursed him: “should he fall asleep, he would forget to breathe.” Eventually, he fell asleep from sheer exhaustion, and his breathing stopped.

Seven years ago, when I was still a neonatology fellow, we received a call from south of Manila, referring a patient for transfer and further care. The baby was male, born full term from an apparently unremarkable prenatal background. I was the one on deck to fetch baby from the referring to the hospital, and it was an exhaustive three hours trip (one way, as SLEx was under construction that time).

The baby had distended abdomen. He also had several episodes of cessation of breathing (apnea) (which is unusual for term babies, unless there is a problem elsewhere, particularly the brain or lungs). Initially, infection was suspected but despite adequate antibiotic coverage, it did not resolve, hence the referral.

Once baby reached my training hospital, one thing we focused on was his enlarging abdominal girth. It seemed that baby has a form of intestinal obstruction — if baby feeds, the milk is retained thus he will vomit; on the other end, there was no passage of meconium – baby’s first stools. Work-up revealed that he seemed to have Hirschsprung’s disease (segment of the intestine does not have innervation/nervous network – thus the obstruction is not anatomic but rather functional). Usually, babies with Hirschsprung’s disease will only have a segmental involvement of the large intestine (colon); few though may entire colonic affectation (termed microcolon). Unfortunately for our patient, he indeed had microcolon.

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Fig A. Microcolon on barium enema

(Image courtesy of http://www.radrounds.com/photo/microcolon-1)

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(Image courtesy of p://www.sonoworld.com/fetus/page.aspx?id=226)

Fig B. Normal Barium Enema (Note the contrast on the diameter of the large intestines between Fig A and Fig B).

Microcolon is a form of aganglionosis (meaning, the entire large intestine is devoid of nerve ganglia that’s responsible in controlling its movement/peristalsis, so that food can be moved from the stomach to the anus. Without such ganglia, the intestinal segment becomes obstructed, food remains at the stomach or other parts of the intestine, cause distention and retrograde efflux/vomiting. This is what our patient had.

He was referred to a pediatric surgeon, but operation to take out affected intestinal segment was no longer considered beneficial to the patient. If the entire large intestine is removed, it will eventually lead to malabsorption syndrome, possibly short bowel syndrome also, conditions detrimental to the baby. So only a segment was removed, and a biopsy of the proximal segment of the colon was obtained confirming absence of ganglia. If ganglion cells were absent in the proximal as well as the distal segments, then most likely the entire colon was devoid of ganglia as well.

After baby’s operation, we wanted to remove the respirator that had been assisting his breathing the past days, so he could breath by his own already. We were able to do this after a few days. Then while baby was already spontaneously breathing, meaning without the respirator, we noted that there were episodes of him becoming bluish (cyanotic), and when blood gas was done, he had been retaining carbon dioxide in his blood. At first it was a baffle, but then we noted that these episodes particularly happened when the baby was in his deep sleep. HE WASN’T BREATHING (apnea)! Curious that we were, we all trooped to our textbooks and looked for the definition of congenital central hypoventilation syndrome (THE CURSE OF ONDINE). We worked up baby further to rule out other possible causes why he always had apnea but all were normal.

CCHS is a condition wherein when awake, patients seem normal, they breath normally. But when asleep, they stop breathing, with progressive retention of carbon dioxide (hypercapnea) and low oxygen in the blood (hypoxemia). In normal individuals, when they have hypercapneic episodes, this will stimulate them to breath faster to expel the unwanted carbon dioxide. Unfortunately, patients with CCHS are not stimulated to rebreath, hence this may eventually lead to their death, if not awaken. Therefore, these patients will require ventilatory assistance while asleep, but not when fully awake.

But what is the connection between the baby’s Hirschsprung’s disease (Total Aganglionosis) and this CCHS? Could they be a manifestation of just one disease entity? Or is the baby just unfortunate to have both disease at the same time?

I was so lucky to have a very diligent resident. She was able to find a disorder pertaining to the abnormality of neural crests, or small nerve tissue, that migrate from the central nervous system to peripheral location, including the intestines. It seems that there is abnormal or no migration of this ganglion cells to the intestines, and thus, resulting to Hirschsprung’s disease. But if the absence of ganglion cells involve the entire colonic segment, then that leads to total aganglionosis (a worse variety of Hirschsprung’s disease). Some of these neural crests too eventually end up as chemoreceptors for our breathing. As chemoreceptors, it is their function to detect abnormal concentrations of carbon dioxide and oxygen in our blood. If it detects hypercapnea, then that triggers our brainstem to send signal and increase the work of breathing. In patients with CCHS, there seems to be absence of these chemoreceptors. A worst case scenario, is thus a combination of both aganglionosis, and CCHS in a syndrome called HADDAD SYNDROME. This is what out patient have. At the time my resident was checking if there’s registry for this condition, she saw about 44 patients worldwide so far. That makes our patient possibly 45th. In the Philippines, our case was the first reported one.

My mentor then explained the condition of the baby. He will be needing a pacemaker that will help him regulate breathing while asleep, but the technology is not yet available locally at that time. Alternatively, baby required to be on respirator when asleep, but that would mean intubating baby every now and then. The parents are young and well off, but they knew that this will eventually drain their finances, with no guaranteed positive outcome. They then decided bring baby back to the previous hospital that referred him to us, and discontinued other aggressive treatment measures for the baby. In less than 48 hours, baby expired.

Ondine’s Curse, Is It Real?

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14 responses to “Ondine’s Curse, Is It Real?

  1. j

    July 12, 2012 at 7:58 pm

    My son is 23 has 24/7 dependant CCHS (Ondines) with a dyphragmatic pacer day and vent night via trach. He also has long segment Hirschsprung’s with an ileostomy and feeding tube. He is 23 – no wheelchair – I know everyone always visualizes that. He mountain bikes, hikes, archery, skim boards at the beach and loves to play badmitton with family and friends. He is also a very handsome young man with a beautiful girlfriend of 2 years. He has an accounting and finance degree and has a wonderful job in his field. With the right team, attitude and purseverance, sometimes miracles happen. PS – We haven’t ben cursed.

     
    • drclintonb

      July 13, 2012 at 3:58 am

      I am happy with your son… How I wish we also live in a community like yours where technology is available. Unfortunate for us… 😦

       
  2. shelley colquitt

    July 14, 2012 at 12:54 pm

    My daughter is 11 and has CCHS (ondines) she also has diaphrgamatic pacers. Zoe is full of life and spunk !!!!

    confessionsofasleepdeprivedmomma.blogspot.com

     
    • drclintonb

      July 14, 2012 at 5:11 pm

      you’re so lucky. 🙂
      we dont have the technology here yet.

       
  3. Glenda Ruddell

    July 14, 2012 at 2:32 pm

    hi i would like to know where you got your figures, that there is only 45 of these cases. My 4 year old son has Haddad Syndrome, he is 20/30 with total colonic hirschsorungs disease. I am very grateful that Joshua is ventilated at night only and is is home from he was 5 months old!

     
    • drclintonb

      July 14, 2012 at 5:12 pm

      Might I ask at what hospital was your son registered? I will try to find again the literature that my resident found. 🙂

       
  4. Laura

    July 19, 2012 at 7:27 pm

    My son is just 12 weeks old and is 20/33, also have the Hirschsprungs. My journey has just now begin 🙂

     
    • drclintonb

      July 20, 2012 at 1:50 am

      I wish that you will all have the support you need. 🙂

       
  5. Joan

    October 22, 2012 at 3:35 pm

    hi. i just read this blog post. and i feel sorry for the little boy and his family. i was excited to read your blog post because i thought it will lead me to meeting another CCHS kid here in our country until i read the last part..:(
    my 5-yr old daughter has CCHS. and we live here in las pinas. it’s never easy to have CCHS in the family. but even without the same technology as that in US or other advanced countries, children with CCHS can still survive here in the Philippines. please email me po when you encounter another CCHS family. especially those who are new to this journey and might be needing some support from another CCHS family… because maybe we can at least shed some light and hope for them..thanks!

     
    • drclintonb

      October 22, 2012 at 4:50 pm

      why, thank you. I think your child’s case is familiar to me. it seems that your kid was born after the baby in my blog died. someone told me she encountered a case of CCHS in Southern Manila area.

       
    • Marie Claire Peralta Agsaulio

      October 19, 2017 at 12:28 pm

      Hi ma’am, my son was recently diagnosed with CCHS at 3 weeks old. We’ve been in the hospital for 2 weeks now after he was first diagnosed with Sepsis and Pnuemonia. After some time of taking antibiotics and what not, he got better. Doctors already had series of failed extubation because my baby literally does not breathe on his own. All possible tests and procedures have been done, but everythig showed normal findings. Our neonatologist then came up to a conclusion that my son has CCHS. Apparently, we cannot confirm it yet because the genetic/mutation testing is not available in the Philippines. I don’t know what to do about this case. It just breaks my heart to think that I won’t be able to bring my son home because of his dependence to ventilator. We’re not well off, I don’t even know how to settle all the possible expenses for this illness because of lifetime ventilator usage. All I want is to let my son live and have a normal life. Please help me.

       
      • drclintonb

        October 19, 2017 at 2:51 pm

        if in case that is true, then your son will be requiring a phrenic pacemaker… same as pacemaker of the heart, phrenic pacemaker functions to stimulate the phrenic nerve which innervates the diaphragm for a regular contraction and thus ventilation of the lungs. I have no idea if it has already been done at lung center, but that would be I guess the next best place for you to inquire from.
        try to seek referral to a thoracovascular surgeon, probably at phil heart or lung center.

        also, you may try to seek assistance from abroad as I know there are some institutions there that might be able to perform the procedure to your son for free.. you will need though a very complete medical history and data for their perusal.

        My apologies for the limited advise I can share.

         
  6. Janette

    October 22, 2012 at 4:59 pm

    My son has CCHS and long segment Hirschsprung’s. Both conditions are difficult in themselves but together they can be overwhelming as difficulties in either has impact on the success of treatment for the other. I will say after dealing with both for 23 years, the difficult case of Hirschsprung’s gave us the most incidents worry for survival. With diligent care, great doctors, nurses and a child with spunk we have had tremendous success and still do with pacers, an ileostomy and feeding tube. To see him you’d never know he has the extra “stuff”. Don’t be afraid of ostomys and technology to help you through the tough childhood years. There are great rewards and stable health on the horizon with great medical care and support.

     
  7. Jakub

    October 22, 2012 at 9:49 pm

    I feel so sad when I read last lines of the post. I’m in shock that the boy is gone. Our 27 month girl is 20/26 and she had entire colonic affectation. She is one year after final pull-through surgery, and I swear CCHS is nothing comparing to difficulties of having lack of colonic. She has wound near to the anus caused by having all the time diarrhea, 10 – 15 times per day we diaper her, but it does not change too much. She suffer every time she make poo. Some times it’s knock you down when you can’t help and you hear from physician that the time is the only one and good cure for that. We use to ventilator and monitoring baby SO2 level. It’s just become a part of our life. But this damn HD is still with us… lucky in some years her condition will be better, and maybe CCHS too 🙂

    Greating from Poland

     

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