One mother's story: Pentalogy of Cantrell

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This story was written by Sarah Doyle, mother of Aidan.

I’m sure that I’m one of many parents who credit Children’s Hospital Boston with having saved their child’s life. But I don’t think many parents have had an experience quite like ours. Aidan was born in April of 2007, with a giant omphalocele, a defect in which the abdominal organs develop within the umbilical cord, outside of the abdomen. This only occurs in an estimated 1 in 2,500 pregnancies. The defect was detected during a routine ultrasound at 20 weeks gestation. It’s pretty hard news to take when you are told your unborn child has a life threatening defect, and that the defect may be associated to chromosomal abnormalities or that other anomalies may be present. We thought ourselves lucky; the omphalocele appeared to be isolated, and his chances of survival seemed pretty good.

Aidan was born at UMass Memorial Medical Center in Worcester; it was immediately obvious that he was in respiratory distress and he was placed on a ventilator. We decided to do non-operative management of the omphalocele, a decision that was not supported by the surgeons, but they respected our wishes anyway. After a few weeks, Aidan remained on the ventilator, and without any answers as to why he was still having respiratory difficulties, we made the choice to have Aidan transferred to Children’s Hospital Boston. He was 5 weeks old when he became a patient on 7 North, in the NICU. It was then that we met the wonderful team who would work so hard to save his life, which included Dr. Mary Mullen from Cardiology, Dr. Lawrence Rhein from Pulmonology, and Dr. Russell Jennings from Surgery. With the team in place, we began to get some answers.aidan_doyle_3

Tests were ordered, and a CT scan revealed that Aidan’s ribcage had not grown to proper proportions due to the omphalocele. His lungs were long and skinny, as was his ribcage. He also had a cleft sternum. Cardiologists performed a heart catheterization, which revealed two small holes, a ventricular septal defect (VSD) and patent foramen ovale (PFO), but more concerning than that was their finding that Aidan had pulmonary hypertension. We knew then that Aidan would have a long road to recovery, and that the ventilator would be necessary long term. He had a tracheotomy performed when he was 7 weeks old. One of the ideas that was brought up was to create a prone bed with a hole in it, which would allow Aidan to lie on his belly without compressing the omphalocele. The NOPCO brace shop was brought in, and Rusty Miller made a bed that accommodated Aidan’s needs. The doctors also decided on a new course of treatment for Aidan’s pulmonary hypertension (PH): Viagra. Although the effects of the drug have not been fully studied, it does appear to help improve PH in infants. We decided it was worth the risks.

As the weeks and then months passed, Aidan seemed to become more stable. In August of 2007, Aidan appeared to be stable enough to transfer to Franciscan Children’s Hospital. Just before being moved there, nurses noted that you could see a pulse high up on Aidan’s omphalocele, which had grown quite large at that point. The doctors didn’t feel that this finding should prevent Aidan’s transfer, and so he was moved to the rehab hospital. He spent a total of 16 days there before needing an emergency transfer back to Children’s, this time as a patient of the M/SICU on 7 South. Aidan had become extremely sick with a respiratory infection and was very dehydrated. But most concerning was that we could now fully see his heart beating in his abdomen. This was something Dr. Mullen had not seen before, and she was uncertain how dangerous this might be. What Dr. Jennings realized was that Aidan had a congenital diaphragmatic hernia (CDH) that had gone undiagnosed up until this point. Aidan’s heart had migrated through that hernia, and was now in aidan_doyle_6his abdomen, a condition known as ectopia cordis. At 5 months old, Aidan was finally diagnosed with Pentalogy of Cantrell. This is an extremely rare condition, and one that exceptionally few babies survive with.

We waited for months for Aidan to be stable enough to endure surgery. That day finally came on December 3, 2007. Dr. Jennings took Aidan into surgery along with a heart surgeon. That as well as the CDH repair went without complication, but when Dr. Jennings went to repair the omphalocele, there was too much swelling, and much of the skin that had covered the omphalocele had become useless. Dr. Jennings had to resort to unconventional methods to save Aidan’s life. For weeks, Aidan was placed on heavy sedation and paralytics, and a traction device was devised which attached to the muscle and fascia of Aidan’s abdomen, and stretched it out. Twice a week, Aidan went back to the OR to have the organs reduced further into the omphalocele. After three weeks, the combination of stretching muscle and fascia and reducing the omphalocele resulted in a partial repair of the defect, requiring the use of Gore-Tex to complete the closure of Aidan’s abdomen. That final surgery happened on Christmas Eve, and our hearts were filled with joy as we witnessed a true miracle in the beginning of a new life for our son.aidan_doyle_11

The recovery following those surgeries was not easy. Aidan spent the next two months struggling to be weaned off the sedation he had become used to. My husband and I worked with Lauren Perlman of the Respiratory Department, and she trained us on how to use the ventilator which would accompany Aidan home. Finally, on March 4, 2008, Aidan left Children’s to come home for the first time ever. We had waited 328 days for this. There were many hugs and tears of joy, and even songs for Aidan as the entire staff said farewell. What a bittersweet moment as we took our baby home, but left behind the doctors, nurses and staff that had become like family to us.

aidan_doyle_8cropSince coming home, so much has changed. Aidan was able to come off the ventilator and oxygen in July of 2008, and a month later he welcomed the arrival of a baby sister. For his second birthday this past April, Aidan had his final closure surgery on his abdomen, and Dr. Jennings created a beautiful little belly button for him. There are still struggles; Aidan has oral aversions and will not eat by mouth. He is 100% dependent on tube feedings. He is also about a year behind in his development. But his days are happy, and for the most part he is healthy.

aidan_doyle_10There isn’t a day that goes by that I don’t think about the challenges we faced in that first year of Aidan’s life, or of the wonderful doctors and nurses who not only cared for my son, but for my husband and myself.  I will never be able to thank them enough for their compassion, their talent, and their commitment to Aidan. My son is now a proud survivor of Pentalogy of Cantrell, and there are few who can say that. That could not have happened without Children’s Hospital Boston.

~Sarah Doyle

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  • Gina Short

    Very well written, Sarah! Brings back too many memories and tears to my eyes. So happy for all of you!

    Gina Short, fellow MOO
    Mom of O baby Mateya born 6/20/05

  • Elizabeth Shaw

    I search the internet almost everyday for new information about pentalogy of Cantrell. Our baby has been diagnosed with this and he will be born in October. Your families story gives me hope of what we may be facing if we are lucky. Good luck to you and your family, you are inspiring.

  • Tara

    Sarah, thank you so much for your inspiring story. I am 11 wks along, and we were just told that our baby has Pentalogy of Cantrell. I’m dying inside. Almost every doctor I’ve talked to keeps telling me to terminate now. I recently got in touch w/ The Children’s Hospital of Pennsylvania to see if there’s anything they can do. We have been told that our baby seems to have about 4 of the 5 markers, so I’m really not sure. It’s so good to hear hope that your son survived. It makes me want to keep going and believe my child can be a survior, too. Thank you so much for sharing. Please contact me with any additional information you can if you are able at Tara_spahr@hotmail.com. God bless you, Aidan, and your family. I pray that he continues to progress and turn into a fine young man. Thank you again for sharing your story. You’ve given hope to others when hope was lost.

  • Evelyn

    Holy crap! we were there the same time you were and Dr.J wanted to know if we wanted to meet you guys,we declined obviously,because we really didnt think there was much you could have done for us. Reading his story is almost like reading our own. Our daughter Sonora was born in Oct. and she stayed at childrens for about a yr,0 surgeries,she is 2 now and I dont quite understand how they overcame aidens and nothing for her,I will ask him,but if you have any suggestions on what to or not to do that would be great,as far as the surgeries go,I dont know if its even possible now since he had it all done by one and my daughter is already 2,but if you got anything,Id appreciate it
    thanks and good luck with you guys!

  • Dorah Ruth Atieno

    Back in Sudan a hospital by the name Mother of mercy mission referral hosp for the first time since the hosp began two years almost received a 12hrs old baby who had omphalocele. Due to the war that has been ,not so very many hospital are and to make it worse the personnel and manpower I so mean the machines that can enable the detection at an earlier stage.The people too are not educated neither do they know of such existence!After reading through your story sahre I so believ and trust in God that the missionary American Physician and a surgeon will help and try make the innocent baby survives.

    God bless you, Aidan , and your family!

  • Sarah Doyle

    Thank you all for your wonderful responses. I wanted to make myself available to anyone who needed further advice or support. If you would like to contact me personally, you can reach me at sabelle0303@yahoo.com. I also recently began an online support group for Pentalogy of Cantrell, the link to that is http://health.groups.yahoo.com/group/PentalogyofCantrell/. There are only a handful of members, but those of us on there are always happy to help others who are going through a similar situation.
    Thanks again!
    ~Sarah Doyle
    Aidan’s proud mommy

  • cherie cawdron

    I can’t believe I have found this link, info. I have been so isolated about my son’s condition for SOOOOOOOOOOO long. Mitchell (who has Pentalogy of Cantrell) turns 6 next week. We spent a long 2 years in hospital before coming home. I have read your story and just identified with so much. We are a small group of parents with unique children and I would love to share. Will try and join the group. Mitch still has a trache and I belong to an online trache group, originally was part of the MOOs (Mothers of Omphaloceles), but I have always longed for other parents who really knew about our kids conditions. So anyway, going to join in!
    Cherie XX

  • melissa carter

    My son just turned 14 the 12th of December. When he was born I found out then that he had a birth defect. I was sent to a room and he was wheeled off to the nicu. Then the NICU from Jackson MS came to pick him up when he was only 5 hours old. I was terrfied. Never heard of anything like this before. They said they would be doing surgery and couldn’t tell me anything else. I turned to GOD with a desperate plea to save my son. He was a blessing. He did have surgery when he was 6 weeks old and heart cath at 6 months and open heart surgery at 8 months. That was the last surgery. I have left it all up to my Lord and Savior Jesus Christ. Thanks to him my son survived. Still doing great has a check up 1 time a year and growing great. Surviving Pentalogy of Cantrell

  • Jeff, Trish, Sam and Rori

    What an unbelievable story..I've known Mike for about 20 years and when my daughter was diagnosed with an omphalocele he directed my wife and I straight to Dr. Jennings and his team and we are forever grateful. Aidan, Sarah and Mike's story is truly inspirational!!!

    Jeff & Trisha Bernheart

  • http://www.baytasbattles.blogspot.com/ Darick

    Please read our blog if you have a Pentology of Cantrell diagnosis! My wife and I were diagnosed with Gastroschesis which was later determined to be Omphalocele. I am an attorney and she is a physical therpist. We read everything we could get our hands on. I would ask every Dr. we saw prior to our daughters birth about the risk of Pentology of Cantrell. All looked at me like I was stupid and assured me that we did not have that condition! Guess what? Her omphalocele was repaired in 24 hours and then 3 days later her intestines pushed through a hole in her diaphram and caused he to have difficulty breathing… so she had to be opened up again to repair the diaphram which is when they discovered the abnormal chest issues… One thing we did not know is that Pentalogy is a spectrum disorder. There are severe cases and minor cases.. we were lucky and had a VERY minor case. Also, girls are protected by their genes more than boys… Please read our blog http://www.baytasbattles.blogspot.com, or contact us if you have any questions about this condition. It can be devestating, but it can also be very survivable… and guess what? A lot of DR have never seen it so you have to be your own advocate! It is so rare that we are particpating in a micro array study to help isolate the genes responsible for the condition. The Genetisist at our hospital had only seen 3 cases in his entire career and he specialized in these types of disorders!

  • http://www.baytasbattles.blogspot.com/ Darick

    Please read our blog if you have a Pentology of Cantrell diagnosis! My wife and I were diagnosed with Gastroschesis which was later determined to be Omphalocele. I am an attorney and she is a physical therpist. We read everything we could get our hands on. I would ask every Dr. we saw prior to our daughters birth about the risk of Pentology of Cantrell. All looked at me like I was stupid and assured me that we did not have that condition! Guess what? Her omphalocele was repaired in 24 hours and then 3 days later her intestines pushed through a hole in her diaphram and caused he to have difficulty breathing… so she had to be opened up again to repair the diaphram which is when they discovered the abnormal chest issues… One thing we did not know is that Pentalogy is a spectrum disorder. There are severe cases and minor cases.. we were lucky and had a VERY minor case. Also, girls are protected by their genes more than boys… Please read our blog http://www.baytasbattles.blogspot.com, or contact us if you have any questions about this condition. It can be devestating, but it can also be very survivable… and guess what? A lot of DR have never seen it so you have to be your own advocate! It is so rare that we are particpating in a micro array study to help isolate the genes responsible for the condition. The Genetisist at our hospital had only seen 3 cases in his entire career and he specialized in these types of disorders!

  • Anonymous

    congrats sarah my son (Kenton Dunlap) was also born with pentalogy of cantrell on june 2 1998 at utmb in galveston, texas to them he was a ginny pig and the only known suvior then his omphalocele consisted of his liver on the outside of his body, his intestines wrapped around his lungs thru the diaphragmatic hernia, he has anarterial septic defect sterum missin the xphiod process which u can c his heart beatn, plmonary hypertensio, heart mumor, he was plaed on ecmo along with the vent at birth and had 13 surgeries at 9 days old he was on vent trache and oxygen until the age 5 still he has not had hart surgery they say he is not strong enough but no at age 11 besides havn no belly button and al the scaes you couldnt tell there was anything ever wrong. so stay strong and keep up the good work. Tranquilla Dunlap of clute, texas

    • Jeff, Trish, Sam and Rori

      What an unbelievable story..I’ve known Mike for about 20 years and when my daughter was diagnosed with an omphalocele he directed my wife and I straight to Dr. Jennings and his team and we are forever grateful. Aidan, Sarah and Mike’s story is truly inspirational!!!

      Jeff & Trisha Bernheart

  • tranquilladunlap

    congrats sarah my son (Kenton Dunlap) was also born with pentalogy of cantrell on june 2 1998 at utmb in galveston, texas to them he was a ginny pig and the only known suvior then his omphalocele consisted of his liver on the outside of his body, his intestines wrapped around his lungs thru the diaphragmatic hernia, he has anarterial septic defect sterum missin the xphiod process which u can c his heart beatn, plmonary hypertensio, heart mumor, he was plaed on ecmo along with the vent at birth and had 13 surgeries at 9 days old he was on vent trache and oxygen until the age 5 still he has not had hart surgery they say he is not strong enough but no at age 11 besides havn no belly button and al the scaes you couldnt tell there was anything ever wrong. so stay strong and keep up the good work. Tranquilla Dunlap of clute, texas

  • Michael Goddard
  • Michael Goddard
  • Jessica O’guinn

    tht is wonderful to see your lil one doin good it helps me be a stronger person for my son who is five days old and has down syndrome and a CDH the team tht is with my lil one is great over in vanderdilt Childern’s hospital in Nashville TN this is a wonderful hospital . And i want to ask who ever reads this to plz keep my son in your prayers his name is domanic rashade allen and he is my lil sunshine

  • Pocho_gm

    iam so happy to see your baby doing good becuse it helps me to be a fighter for my baby he had meconium aspiration syndrome and many complications and he also had pulmonary hypertension he is now at home but he spend 2 months in the hospital he is also with feeding tube. god bless your family

  • Stephaniedmcalister

    so glad to read this,my daughter was born the same way all but the heart issue,she has a trach and was on a vent for 2 years just now come off of vent and o2,she had the giant omphalocele,she to has tube feedings,how did they do his feeding tube she has a ng tube bc they said it would be hard to put in stomach please email me at stephaniedmcalister@hotmail.com

  • Tracy Cronin

    Hi Sara!!!

    This was beautifully written!!! I love to see Aidan growing up =)

    Love, Tracy Cronin

    • Jessica O’guinn

      I’m so happy to see your little one smiling im also a mother goin threw some of the same things but my lil boy is only five days old and has down syndrome and a CDH he is on ECMO and a venilater he is having his repair done tommrrow so if it is posssible to ask that my son be in your prayers . his name is domanic GOOOD luck to your lil one his is handsome

  • Betty Grayson

    I am so happy to read about your good news ! Have have a friend going thru the smae thing with her grandchild, does not look good. We pray for a good outcome. He will be wearing a colonsotophy bag for life.

  • Knight Brett

    hello sara, my name is brett knight. my wife and i were told our son will suffer the same birth defect by our doctor in Conroe texas. i asked if there were any options to save my sons life, our doctor flat out told us no. I live thirty miles away from houston and we have some of the best medical facilitys the world, i have not slept in three days and am trying desperatly to find help for my son. do i have any other options other than going to boston, that would be financially impossible. feel free to e mail me at knight.brett@ymail.com or call at 936 444 5343. i really dont know what to do.

  • Neysa

    I have a 3 day old son who has just been diagnosed with Pentalogy of Cantrell. He appears to have a very mild case and is recovering from his first surgery. Obviously, because of the rarity, we have had an impossible time finding other families who have gone through this!! If you’re willing, you can contact me via an email form on my blog: http://www.preciousmason.blogspot.com

    Aidan is absolutely precious and a perfect miracle!

  • Crystal Williams

    Thank you so much for this article. My son, Tristan who is now two years old was diagnosed with Pentalogy of Cantrell a few months ago. He was born with a giant omphalocele, an ASD as well as other heart defects, and a diaphragmatic hernia. We have been in and out of hospitals since he was born, and we came very close to losing him in February 2009 when he went into cardiac arrest due to breathing problems and ASD. He has had several surgeries so far, but we are coming up on a surgery to repair his diaphragmatic hernia (again), his cleft sternum, and his ASD. He has been through so much in his short life, but I am proud to say that he lives a great life and is ahead of his age when it comes to mental and physical development. Strangers have no idea anything is wrong with him unless we tell him, and he is just the happiest baby I’ve ever seen. But I just wanted to tell you that your story gave us hope when his future was looking very dim, so thank you.

  • Stasi

    Thank you for sharing your heart, soul, and story of your son. Thank you also for the pictures of your little trooper. They brough a smile to my face to see how healthy and happy he is! You are all in our thoughts. Best wishes.

  • Darlean

    Hi My name is Darlean Mary Learned I was born with this type of birth defect in the year 1973.I’m in the medical books at the Boston childrens hospital,my nurse name was Debbie my doctors name was shoester but a lifeline saved my life also keep me alive. now I’m 37yrs.old I’m doing okay.well if anyone wants to talk to me I would be looking forward to that.

  • MGK

    All our experience are different but I think the pain is the same when you lost someone. I Lost my son 7 years ago. He was diagnosed with Penthalogy of cantrell.I don’t know where the pain coming from. It made it more worse to know it is curable, Unfortunately the country i came from doesn’t have all the knowledge about this decease. and the people we found that we thought will gonna help us was just after the fame she’ll gonna gain if my son would survive.My son had 5 defects. The day I had him he was transfered to another hospital because his heart was visible and just skin covering it.the doctor told me he will not make it for a day.It took few days before i was release at the hospital and had chance to meet my dear angel.he’s inside an incubator.he was feeding good.i was so scared to touch him, i was blaming myself maybe i was the one who gave it to him. maybe i wasn’t careful enough when i was pregnant. a few encouraging words from my mother gave me the strength to do it.when i was there few medical students came asked me if they can take pictures of him.that’s how i found out how rare that decease were.and they said that was the first time they encountered it.after a week we made it home..they said they can’t do any surgeries because he was too young and wait till he gets a little older.My husband and my son finally met each other after 3 months,a month after that when we took him back to the hospital because he had difficulty breathing.I thought i lost him then.he was transferred again to another hospital.he was in the ICU the whole time.the doctor said they need to do the operation and i asked her what are the chances he would survive.i was so shocked what she told me. she said ” You are still young and you can still have more babies” I wanna slap her that moment the only thing stop me was if i do that she’ll not gonna help my baby anymore. I couldn’t afford to get another doctor again and start all over again.when i told my husband about that he doesn’t trust her anymore.as a mother i was hopeless. my mother in law asked for help.she told us that someone is gonna do the operation for free just to bring him to U.S.. we mentioned it to his doctor. she said she will not give us medical certificate for him to fly.and instead let them do the operation. we refused… one day people from U.S. Embassy came to the hospital and visited my son. they were surprised that no doctor’s came to speak to them, and when they asked for his medical records they said the records wasn’t there. the U.S. embassy people said the only way they can do something for my son was to get our son registered as U.S. citizen as soon as possible. they gave us paper works to bring to the embassy the next day. that night the power cut off and me and my husband rushed to the ICU to check on him. we saw them around my son reviving him, nobody told what was happening. we saw him stop moving from the window door and i heard my husband scream because he said some nurses were smiling while trying to revive him.some security guards took him out because he was so angry.I felt so numb when they stopped what they were doing to him I knew he was gone. when they were asked why they were laughing they said someone said something funny. how they could do that while a baby struggling to breath?I don’t know. and I have all the doubts that they really tried their best to help my baby.And why took so long before the power cut back on? I thought they would have an automatic power when thing like that happened. Its been 7 years but the pain still here. I am happy for all that made it..you are all lucky to get all the best help…

    MGK

  • Goyita

    Dear Sarah,
    It’s been a long time since you wrote the story about Aidam. My grandbaby was born 7 weeks ago with the same sickness and I would like to know if Aidam is now eating by himself with no oral adversions, is he also talking?
    I hope you ‘re still checking this page and that your family is doing well.
    Thanks!
    goyita@gulftel.com

  • theresa

    This is an awesome story:) Thank you for sharing with us. I am happy for your
    family:)

  • Iksaesmamma2

    I really wish I would have been in the state if mind to find & read some of these survival stories. There was a “abnormality” found @ 10 weeks but not diagnosed until 15 weeks. We were told by 3 doctors the same diagnoses & there was not even an ounce of chance for survival & we basically had the choice of terminating early or delivering.g a child who would pass away as soon as the biblical cord was cut. I was so distraught at the thought if losing this sweet baby before I even met her & not knowing where to turn. I wish the doctors had put me in the direction of children’s hospitals & in touch maybe with doctors who had dealt with this before. They really didn’t tell me a lot of detailed information except she had all defects associated & if not for her heart they could have a chance to save her & the last specialist said out of 37 cases he had seen there were no survivors & now I doubt him even being involved with that many cases. We done what they told us & they induced labor at 21 weeks. It feels nice to get this off my chest to people who probably heard the same thing & is very heartwarming to see the pictures & words of this miracle & his family because after now reading so many stories I am really struggling inside with our descion. We cannot change it now & there isn’t people close to us who understand the feelings of being torn before & after making this kind of descion. I will never stop asking myself if we make the right descion & I will never stop thinking of what it would be like now if I had went on with the pregnancy, would she have passed on, would she be in my arms now & if so what would she be like. I’m sorry to put this to this story but its the only place I’ve found where anyone could maybe understand how I feel, none in our family or friend circle knows it understands the severity of this condition or have been told by a doctor the best thing you can do for your child us to take her life, its very lonely

  • http://www.franciscanhospital.org/ Deanna Dwyer

    We are happy to share Saeed’s story and hope that, like the Doyle family’s, it will inspire and encourage others facing a similar diagnosis.  http://www.franciscanhospital.org/Home/About-Us/Success-Stories/Saeed-s-Story/page.aspx/1545

  • Salmlopez

    Thank you so much for sharing your story.  My name is Alyse and I am a student doing research in Guatemala.  I am staying with a family who has a 2 year old little boy with Pentalogy of Cantrell.  His mother only speaks Spanish and an indigenous language- do you or anyone else who has commented here know of any parents or families who speak Spanish I could connect her with?  She was told her son would not survive an operation and says she has never met anyone or found anyone whose child suffers from this defect.  The area is very low in resources, but she luckily comes from a family with enough money to travel to Guatemala City, where the child receives treatment.  She lives in the highlands, near Lake Atitlan, and comes from the Tz’Ujutil ethnic group, one of 22 in Guatemala.  At any rate, please let me know when you are able if there are any Spanish-speaking mothers in the group, or, if you know of any resources for her.  Thank you so much.  My email is salmlopez@yahoo.com.

    Sincerely,

    Alyse

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  • Anonymous

    Insurance…Hello Sarah…I’m 17 weeks pregnant and my son has a giant omphalocele. the doctor thinks he might have Pentology of cantrell as well but we still don’t know. They will do a sonogram on week 18 for this. They are saying maybe is better to terminate the pregnancy if the baby has all this…I want to give this bay a chance to fight for his life though…I just have a questions, medical bills…I need to know how expensive this could be. My email is karielys@hotmail.com…please I need advice :(