Below are first hand accounts written by families affected by ACDMPV. There are currently 87 entries displayed on 8 pages.
The hospital where our child was treated: GOSH
The physicians who treated our child: Many
Our Story: We are parents of 2 lovely and beautiful girls. My third pregnancy was a bit of a surprise but what a lovely one. Everything was going smooth until 28th week of pregnancy when I was diagnosed with polyhydramnios. It was so uncomfortable and heavy due to growing amniotic fluid. I was due to give a birth to the third princess on 21.11.20 however due to polyhydramnios I was in danger of going into premature labour. And that’s what happened. Our beautiful girl was born on the 16.11.2020. As she was born so premature she was soon taken from us for monitoring despite perfect results 9/10 Apar score. After about 2 hours of her life we finally went to see her and spend some time with our daughter, Stephanie. At 7 hours of her life, she started to develop some problems with breathing. I would never suppose it will lead us to such sad ending. The doctors from QE hospital didnt know what was wrong with our daughter, final diagnose was pulmonary hypertension. As Stephanies condition detoriated, she was transferred to Norwich hospital, NICU ward. She spend there 5 days, being treated for pulmonary hypertension, but at 4th day she got worse, not responding to all treatment there. And the doctors from this hospital could not help Stephanie anymore. As the last resort, she was sent to GOSH hospital in London for ECMO treatment. I was told before accompanying my girl to London that she won’t make the journey there nor ECMO treatment. She proved the doctors wrong by making the journey fine. Such a fighter all way through despite critical condition. She was put on ECMO machine hour after arrival. She got internal bleeding and swelling straight away however at first all seems to work fine. Day by day though her condition started to get worse and at 1 am on the 27.10.20 we received the phone call from the doctors, asking us to come to the hospital asap as the consultant wanted to tell us something. We were told that in one of Stephanie’s canulas there is a blood cloth that might go to her brain causing death therefore she won’t make it until the morning. Our beautiful princess proved the doctors wrong again. She made it to 12.26 when she flew high peacefully. She showed us such determination and love. What an absolute heroine! Always in our hearts and memories. Love you to bits! Xxxx After post mortem we found out that she had ACD.
Added: January 2, 2021
Name: Desiree (Robles) Armijo
The date our child was born: March 4, 1996
The date we lost our child: March 18, 1996
The hospital where our child was treated: University of NM Hospital
The physicians who treated our child: Mark Crowley, MD
Our Story: Andres Ray Chavez was born on March 4, 1996, 7lbs, 7oz. by C-Section. We were told he wasn’t breathing on his own, so he was rushed to our Children’s hospital at the University. His father went with him since I had just had the Cesarean. They put him on the ECMO machine. By the 7-10 days his other organs were failing. We were told at the time it was just a RARE disease, but the hadn’t given us label until after he passed. By 10th day they told us the most he could stay on is 14 days. By the 13th day they gave us the news that he would be removed with our consent of course due to his failing organs. On his 14th day he was removed from the machines and was back in Heaven. We were told upon completion of the autopsy that he had ACDA and at that time only 20 babies were diagnosed in the world with the disease. Today is his 23 year anniversary from being gone.
Name: Steffi & Jan
The date our child was born: August 10, 2016
The date we lost our child: n/a – Living with ACDMPV
The hospital where our child was treated: Kinderherzzentrum Gießen / Germany
The physicians who treated our child: Prof. Schranz
Our Story: Our story began about 2 years ago… After a normal pregnancy Tom was born (39+3). Right after birth the nurse told us that there is something wrong because he was “grunting” and seemed to had difficults in breathing, so they took him to the NICU immediately. They told us that he might just need a little oxygen and there is no need to worry. After a few hours his condition got worse and the next day they had to intubate him and start nitric oxide. That was the first time they talked about PPHN. His condition didn’t improve so they told us he needed to move him to another hospital in case he needed ECMO support. So on the 7th day of his life he was moved to Gießen (specialists for cardiac and pulmonary diseases). He started having trouble keeping his bloodpressures and needed a lot of noradrenalin. They told us they never saw a child needing so much of it before. Our Doc told us that he tries everything to avoid ECMO because he had the suspicion Tom couldn’t be weaned off of it again. They did a cath twice left the PDA open with a stent. So after 6 weeks he was almost stable and they could extubate him and we were able to hold him for the first time. His condition got better, but we still didn’t have a cause for the severe pulmonary hypertension. He was still dependent to nitric oxide. We tried to wean him a few times, but after a few days we had to put him back on. We tried every medication for his pulmonary hypertension at least intravenous medication (Flolan, Ilomedin). At this time his condition started to got worse again. He got a massive lung edema and we stopped the intravenous medication again. Fortunately he recovered completely from that episode and was complete stable again. Tom had an open lung biopsie in suspicion of PVOD or PCH but it came up with IPAH. We never believed that it is “just” IPAH because there had to be something wrong with his lungs. Prof. Schranz told us that he had the suspicion of ACD. Tom was about 4 months old when he told us. Because of his clinical course we didn’t believe that it could be ACD. So after almost 2 years on PICU and a lot of contacts to experts worldwide we decided to check the last two genes which were never checked before. About 2 weeks before Toms 2. Birthday the results came back – deletion in chromosome 16 near FOXF1 – Alveolar Capillary Dysplasia. We were completely out of words and I can’t even describe my feelings when I heard the diagnosis. Tom is doing really good and behave like a normal 2 year old child. He is on highflow with oxygen and nitric oxide and complete stable. We had the hope that he just “grow out of it”. After the diagnosis I contacted the clinic in Hannover (germany) to evaluate the possibility of a lung transplantation. Now we try everything to put him on the list as quick as possible. Our goal is to finally bring our son home for the first time of his life….
Added: September 14, 2018
Name: Amy and John
The date our child was born: July 13, 2017
The date we lost our child: August 14, 2017
The hospital where our child was treated: a few hospitals
The physicians who treated our child: Many
Our Story: My little Freddie was born on the 13th of July 2017 at 10.26 am which we thought he was a healthy baby until he didn’t get his colour… less than 24 hours later we were in Leicester he was having ECMO treatment the doctor said he had 80% chance of surviving which we thought great our baby can do this he’s a fighter until a week later and his oxygen level wasn’t improving we got moved to Bradford then and there was a big chance of him not surviving the journey up. We got there after 3 hours travelling and he was still fighting. Once we settled in to Bradford they were worried and didn’t know what was wrong with Freddie so they brought a specialist from Leeds to talk to us… So we agreed that Freddie would have a lung biopsy in Leeds… so we went and he went and had his biopsy and they gave us the results a week later which was totally heart breaking because they said he had no chance of survival and had alveolar capillary dysplasia which is a serious untreatable lung condition … so we went back to Bradford to spend whatever time we had left with him we planned to go to forget me not hospice with Freddie to do it there but Freddie made other plans and at around 10.45 am on the 14th of August our little soldier gave up his fight… we had 33 days with him
Added: October 23, 2017
Name: Tiffany and Dustyn
The date our child was born: July 23, 2016
The date we lost our child: August 6, 2016
The hospital where our child was treated: Helen Devos Children’s Hospital Grand Rapids, MI
The physicians who treated our child: Dr. Marcus Hall
Our Story: At this point in our lives grieving has been a day by day struggle. It’s been very comforting reading all the different inspiring stories from other moms on this page… I Feel like I’m able to share my O Angels story!!! We found out in November of 2015 we were expecting and neither one of us could have been more excited. As well as our family’s. It was our first child for both of us. We found out early in the pregnancy that I had high blood pressure and that baby and I would be watched extensively through out the pregnancy and that she would be delivered at 38 weeks. We seen the doctor every two weeks and had numerous ultrasounds. In March we found out we were having a little girl. The look on her daddy’s face was priceless, he got exactly what he wanted and that was daddy’s little girl. Other than the high blood pressure we had a fairly normal pregnancy. At 37 weeks and 6 days we went in for a non-stress test and she wasn’t getting the accelerations they wanted so they decided they wanted to take her that day. I was so nervous and excited at the same time. The day we waited 8 longs months for was finally here… We were gonna meet our baby girl. At 4:51 pm she was brought in to the world via c-section due to her being breech. 6 pounds 15 ounces and 18 1/2 inches long. She was perfect in every way. A couple minutes after she was out they informed us she had a small omphalocele and would have to be transported to a children’s hospital 2 hours away from our home. 16 hours after my c-section I was out of the hospital and down state with our baby. Once there we were informed that she also had 4 different heart defects that would need surgery as well on top of pulmonary hypertension that was not getting better even with Medicine and they were not sure why. On August 2nd Our girl went in for a lung biopsy and everything went well during surgery. We were so proud of our little fighter. We waited two long and sleepless days for the results. On August 4th we got the results from her biopsy and they were not at all what we wanted to hear or could ever Fathom. Our sweet baby Aurora was born with a very rare and incurable lung defect. Alveolar Capillary Dysplasia only 200 other infants in the world have been diagnosed with that exact defect. We felt so lost in those words. That day all of our worlds crushed in around us. We love our little angel more than anything in the world and there was not one thing us as her parents, grandparents or doctors could do for her. Every bit of hope we held on to since she has been born was gone. The next day she was removed from the machine she was on acting as her lungs. We spent the best day ever with our sleeping beauty. Her daddy finally got to pick her up and hold her as close and as long as he wanted. I’ve never seen someone so proud to be not only a daddy but her daddy. She was finally able to be loved on by everyone who loved her so much. Our hearts felt content knowing that she knew how much she was loved. On August 6th our LITTLE fighter lost her fight. We loved and cherished every second, hour, and day spent with Our Beautiful daughter. With that being said our hearts are heavier than they ever have been and there’s nothing we wish more than to have been able to cure our baby girl . We love you so much AURORA SOPHIA MERCEDES SPLAWN more than life itself baby girl. Your wings were ready but our hearts were not. There is no foot print to small that it cannot leave an imprint on the world. You’ll always be mommy and daddy’s heart warrior. In loving memory of our sweet girl July 23, 2016 – August 6,2016
Added: September 5, 2016
Name: Hayley & jason
The date our child was born: November 22, 2015
The date we lost our child: Alive
The hospital where our child was treated: Gosh england / everlina England London
The physicians who treated our child: Number
Our Story: Our Imogen was given this diagnosis at the age of around 5 months, we where told there was no cure and we just wait….
That was not good enough for us and we did some research and found that American had done lung transplants on children as young as Imogen. So we was lucky enough for her to be excepted onto the transplant list which in its self was amazing. Never did we think that we would be so lucky so soon but a week later there was a donor omg the fear and excitement all in one. But here we are she has had her transplant and it’s slow steps.
To me there must be different types of this disorder because our baby was fine up until she was 4months and she was doing well after having caught a number of infections which involved her being ventilated but she came through she was on tiny amount of oxygen was gaining weight and developing.
I hope our story shows some light for some people.
Name: Mathijs Lourens
The date our child was born: November 20, 2015
The date we lost our child: December 17, 2015
The hospital where our child was treated: Sophia childrens hospital Rotterdam
The physicians who treated our child: Dr. Kraemer
Our Story: Our beautiful daughter Myla was born on the 20th of november. Soon the doctors noticed that she wasn’t functioning normally. The oxygen level was to low. She was transported to Rotterdam for ECMO treatment. After a four week hell on earth, ACD was diagnosed by doctors in Seattle. Besides the misery it has been a very special time for us. We’ve gone so deep during this period. We met very special people who we will cherish forever. Were al those special things worth it? No freakin way! But they’re there and if we learned something it is that you cannot ignore your feelings.
Name: Andrea & Chris Powell
The date our child was born: September 1, 2015
The date we lost our child: September 25, 2015
The hospital where our child was treated: Tacoma General & Seattle Children’s
The physicians who treated our child: Many
Our Story: Well, our story started in April at the 20 week ultrasound. We found out we were having a boy which we were ecstatic about. (We have a 2 1/2 year old daughter) The ultrasound tech told us she had to check with the radiologist to make sure she took enough images and left the room for quite some time. We didn’t think anything of it because it was an extremely busy office. She eventually came back and said that they had what they needed and gave her congrats. The next morning I had a routine appointment with my OB. Chris stayed home with our daughter since it was just a routine appointment, we didn’t want to have to deal with a toddler in a busy waiting room. When my OB came in, he told me that he needed to talk to me about my ultrasound. I jokingly asked if they had gotten the gender wrong or something. With a serious face, he said, no. They “saw something with the baby’s heart”. He told me he wasn’t going to try to pretend how to interpret an ultrasound and that he had no idea what it was, but not to worry because a lot of times it ends up being nothing. He then told me his assistant would call me soon to help refer us to a cardiologist. A couple days later, his assistant finally called and gave us the information to set up an appointment with NW Children’s Heart Care in Tacoma and that we would need to have an echocardiogram done. A MONTH later, we finally had our appointment. We had no idea what to expect and hoped that it was “nothing” like our OB said. Well, this time he was wrong. Minutes after the echo, Dr Park, our cardiologist came in with his intern and began to tell us about their findings. Our little boy had an extremely rare heart condition called Pulmonary Atresia with VSD and MAPCA’s. He told us how serious it was and that he would need multiple surgeries throughout life. Most times, the condition is operable, but not always. We were terrified and quickly went home to do our research. Sadly, there isn’t much info out there due to how rare it is. The following months, I had multiple echocardiograms and ultrasounds to monitor our son’s growth and progress. I was referred to high risk OB and was scheduled for induction at 39 1/2 weeks so that he could be delivered in a controlled environment and have a NICU team ready. On September 1st, Garrett Jerome Powell was born weighing in at 7 lbs 9 oz and had an APGAR score of 9/9! We didn’t get to hold him because they needed to quickly rush him off for tests, etc.. A few hours later, we were informed that he needed emergency surgery after their findings on his abdominal ultrasound. He had Malrotation Rectal Atresia. He made it through surgery well. They ended up taking out his appendix and put in a G tube while they were in there since kids with his condition tend to have feeding issues. The next couple days had it’s ups and downs. Garrett was doing extremely well on September 5th. So well that they decided to extubate him. We were able to get some great photos of him (smiling even!). We also got to hold him! This good streak only lasted about 10 hours or so and Garrett began to have extremely low oxygen saturations. Over the next few days, he became more and more unstable and the staff at Tacoma General NICU decided it would be best for Garrett to be transferred to Seattle Children’s for more specialized care. On September 9th, Garrett was transported via ambulance to Seattle where we met him shortly after. He was admitted to the CICU (Cardiac Intensive Care Unit). We were in awe of how state of the art this facility was. We thought the Tacoma NICU was amazing, but this place truly was incredible. They had multiple cardiologists on the floor at all times. We felt we were in the best hands possible. Just like at the previous hospital, Garrett had his good days and bad days. The bad days started to outnumber the good after a while. He had unexplained pulmonary hypertension and his oxygen saturations continued to dip down into critical levels. One day, they called a code blue. We were pushed to the corner as multiple doctors and nurses rushed the room and saved our son’s life. I’ve never seen a human being turn that shade of blue before. It was terrifying. Since a lot of it is a blur, I can’t remember if his Cardiac Cath was before or after this happened. He wasn’t stable enough for the cath, but they were desperate for answers and needed to see his anatomy. The cath pretty much showed what they suspected all along with his heart condition and that they’d hoped for a little better findings, but the good news was that his case would still be operable. Garrett continued to decline and eventually had to be put on ECMO. The last thing they could do was a lung biopsy to hopefully find answers to his unexplained pulmonary hypertension. The biopsy results came back on Thursday September 24th. It was late morning, and our nurse kept hounding us to go get something to eat since she knew we hadn’t eaten yet that day. Not thinking anything of it at the time, we agreed to go down to Starbucks on the main level of the hospital for a quick bite. As we walked back to the room, I suddenly had a sinking feeling. It dawned on me that the nurse wanted us to go get something to eat because she knew we probably wouldn’t eat again for a while. Chris diverted to use the restroom and I walked back into Garrett’s room. The nurse quickly picked up the phone and quietly said, “the family is back”. When Chris came in, we were escorted to the “family quiet room” where a room full of doctors, nurses, and social workers were waiting. They proceeded to tell us the results of Garrett’s lung biopsy. He had Alveolar Capillary Dysplasia. They then informed us this was the end of the road. There was nothing more they could do for him. We awkwardly asked if we could get on our cell phones and read online about it a bit. They agreed. Our jaws dropped as we realized we were facing yet another extremely rare condition. We burst into tears after we read that there aren’t any survivors. It really was the end of the road. We were sad and frustrated that our little fighter was continuing to fight so hard, but had no chance. That night our family came and said their goodbyes. Sadly, Garrett’s big sister was fighting a terrible cold and her first ear infection and we decided it would be best she didn’t come. We decided we wanted her last memory (if she will even remember) to be of him in a better state. Chris and I spent the night in Garrett’s room and the following morning a photographer with an amazing organization with the hospital called, Soulumination came and took the most precious photos of us holding our beautiful son. Garrett’s nurse slowly took him off all support and made him as comfortable as possible. He passed peacefully in our arms. A few weeks after he passed, we contacted Baylor and had Garrett’s DNA sent for testing. We just recently heard back , and found out that he was a carrier of the FOXF1 gene that they were suspecting. We’re now working on getting our blood tested to hopefully get answers. We’re a little scared to know the results, but deep down I think we will find relief having an answer. We’re not sure yet if we want to have another baby, but we feel that these results will definitely aid in our decision on that. Garrett made such an impact on so many lives in his short time with us. We’re so happy we found this association because it is so therapeutic to tell our story, and of course, like all of you, we want to help spread awareness and assist with research in this terrible disease that took our son’s life.
Name: Sarah Marriott, Jon blenkinsop
Our child’s name: Seb blenkinsop
The date our child was born: April 2, 2015
The date we lost our child: April 9, 2015
The hospital where our child was treated: Freeman hospital, newcastle
The physicians who treated our child: Dr kumar and many more
Our story: I was diagnosed with polyhydramnious at 29 weeks. I was told my baby son was 100% healthy. I was carrying 5 litres of fluid so my pregnancy was pretty horrific in the sense that I could barely move or walk due to how heavy and big my stomach was. I was took to theatre at 36 +6 days (but actually measuring 52 weeks pregnant) for them to slowly break my waters, I was made aware that if my waters broke on there own the pressure and suction of the water may of pulled the cord out. As soon as my waters where released my baby got distressed and his heart rate was up and down. I was then given an emergency section. After coming around to a distressed partner I realised immediately that something was wrong… My son had no oxygen in his body and couldn’t breath. We named him Seb and he was 4lb 13oz born at 11:07am. My son and partner where transferred to freemans hospital in Newcastle but due to them not having a maternity unit I was unable to go and didn’t see my baby for his first 3 days. Seb was put on an ECMO machine to rest his organs while tests were made. On the 5th day the ECMO machine caused bleeding on his brain, severe brain damage and fits. We were told the following day that the best option was to turn off the machine. So at 11:07am at exactly 1 week old I finally had my first hold of seb where he passed away peacefully In my arms with his dad by his side. Seb had a post mortem and last week we found that he had ACD a disease we have never heard of, this site has really helped us understand more about this cruel disease. We are still taking each day as it comes and will truely miss Seb each and every day… We love you always son xxx
Added: July 13, 2015
Name: Renee Murray
Our child’s name: Callie
The date our child was born: May 15, 2015
The date we lost our child: May 23, 2015
The hospital where our child was treated: Children’s Hospital of Pittsburgh Pennsylvania
The physicians who treated our child: There were many
Our story: After a normal, very uneventful pregnancy our sweet baby girl, Callie, was born on May 15, 2015. The only thing identified while I was pregnant was that our daughter had a 2 vessel cord so I had more ultrasounds to watch her growth. During the earlier ultrasounds she was in a breech position so the technicians were having issues getting good pictures of the four chambers of the heart. They eventually sent us to get an echocardiogram which revealed everything appeared normal with her heart. We had absolutely no idea what was about to happen when our daughter was born. She was born via a successful vaginal birth after cesarean. She cried a few short cries once she was born but then needed assistance breathing. After blowing oxygen in her face for just a minute she appeared fine and was given back to me. We spent the whole first day of her life together as a family, holding her and taking pictures as each new family member came for a visit at the hospital. We noticed that her hands and feet started appearing blueish in color as the day progressed and asked that she be taken back to the nursey so she could be checked out by the pediatrician. The pediatrician checked her out and determined she needed more oxygen. He also decided to send us to Children’s hospital in Pittsburgh Pennsylvania as the hospital we were at didn’t have a NICU. The next thing we knew our little girl was being flown via helicopter to Children’s hospital in Pittsburgh Pennsylvania. Luckily, it was only a half hour drive and the doctors agreed to discharge me to be with her.
When we arrived she had already be evaluated and we were told she had a malrotation and that needed to be fixed immediately. She was taken for emergency surgery within the hour. As they were prepping her for surgery the noticed she was shunting and her oxygen levels were not where they needed to be. They got her stabilized and the surgery went very well. The next 6 days were filled with ups and downs. Her vitals would out of nowhere decline. At first they were able to get her back to normal rather quickly. As time went on it took longer and longer. On her 7th day of life she crashed and they worked on bringing her back for an hour and a half. It felt like eternity to her father and I. During that time, one of her doctors received an email stating her preliminary genetic screening results came back stating she most likely had ACD. We were devasted to say the least after learning there wasn’t a cure and they could only continue to try and keep our daughter comfortable. The next day we decided we were going to hold her after 6 days of not being allowed to. It was the most amazing feeling! Her vitals actually improved the 2 hours we held her. She then began to decline and we held her in our arms as she took her final breath on May 23, 2015 just 7 days after the day she was born.
We agreed to a limited autopsy of her heart and lungs and are awaiting the results. In the meantime we are thrilled to find support through this website and learn more about this terrible disease that took our child’s life and did the same to your loved ones too.
Added: June 9, 2015
Name: Blake and Angela Fuller
Our child’s name: Alexis Fuller
The date our child was born: October 20th 2014
The date we lost our child: November 4th 2014
The hospital where our child was treated: University of Iowa Childrens Hospital,Iowa City IA
The physicians who treated our child: Dr. Reinking and Van Burgan
Our story: We are from Waterloo, IA and at 18 weeks we found out we were having a girl and also told we needed to go to Iowa City to look closer at the heart and at 20 weeks our little girl was diagnosed with Hypoplastic Left Heart Syndrome. During this ultra sound they also noticed her stomach looked a little enlarged but were not concerned. This was the hardest new we thought we had to deal with, but there was so much hope. She was truly our miracle and would do what ever we needed to for her, we had tried for kids for over 3 years. During ultrasounds every 4 weeks, her stomach was always still enlarged, this is something I questioned every time, was this associated with HLHS, My Amnio test came back fine, could it be anything else? but they reassured me it was not something to worry about. Due to her stomach which later found out is associate with her ACD I was carrying 2 extra liters of fluid and went into labor at 35 weeks. On October 20th, our hero Alexis Fuller was born. 5 lbs 2oz 18.5″ inches long and she was just perfect to us. They proceeded as if it was just her cardiac issue and she was put on her prostaglandins and a feeding tube for her stomach which they planned to fix after her first heart surgery. There was something not adding up though with her blood pressure and breathing at the beginning before her breathing tube was placed she was breathing they said to fast. During her x-ray of the lungs they were extremely hazy and at first thought due to her being a preemie but nothing helped and at 4 days old performed a cath lab to see if it was due to something cardiac and the results that the doctor performing thought were nothing we expected nor did any doctor there as none of them heard of ACD not even the pulmonologist. We thought there is no way its to rare. The doctors wanted to give it a little more time treating medically before going futher and after no improvement had to perform the lung biopsy, at that point we could tell the difference in the doctors they new something was wrong but not us, she seemed like she was getting better, she was perfect to us, there was no way we tried for so long. and at 11 days old she was diagnosed with ACD the first case the hospital ever seen and it left us faced with the worst decision any parent should ever have to face. After research we came to find out her condition was text book with her heart, stomach, her genitals were also swollen a little and her vertebrae. On November 4th 2014 at 15 days old Alexis passed but not after a fight the doctors didn’t think she would even make it a couple hours off the tube and medicine but still sedated that little girl gave us 8 hours of love and cuddling with no tubes and wouldn’t trade it for anything. I never got to hear my baby girl even cry and wish this upon no one there is now something in our lives missing that could never be replaced and she truly was our hero in many others as well. we donated her lungs and trachea for research in hopes that it help and would love any info possible to help us now and to move forward. We would love to have another child some day but are terrified of ever dealing with this again.
Added: November 15, 2014
Name: Gert Jan & Marit Nevenzel
Our child’s name: Guus Nevenzel
The date our child was born: October 25, 2013
The date we lost our child: December 28, 2013
The hospital where our child was treated: Gelreziekenhuis, Zutphen, UMC Radboud Nijmegen
The physicians who treated our child: Dings, Van Wijnen, Antonius, IJland, De Boode,
Our story: Guus was born on October 25th 2013 in the hospital (Gelreziekenhuis) in Zutphen. After 24 hours under observation and the necessary check-ups, we were allowed to go home with Guus. Everything seemed fine; he didn’t show any signs of illness. But the next day feeding went difficult, his temperature wasn’t okay and he looked bluish. Marit felt it wasn’t okay at all. That evening we went back to the hospital in Zutphen, and Marit and Guus stayed there for almost 2 weeks, without finding the a real cause for his problems. Then the situation suddenly turned for the worse. There were indications that Guus had a severe malrotation of his intestines (volvolus), so Guus went to the UMC Radboud in Nijmegen, carried in an emergency incubator. In the weeks that followed, Guus had to be operated on for several times, twice for his intestines, in between on ECMO, with pulmonary hypertension showing, but not consistent. (Showing a-typical signs of ACD). But even with all medication and maximum therapy, Guus wasn’t able to keep up his oxygen level. Having perfusion lines for a long time, Guus suffered a sceond septic shock, with his oxygen levels driopping drastically and Guus had to undergo a second ECMO-run, in which, finally, a lung biopsy was taken.
Although Guus had an atypical form, it was unmistakably ACD.
That same day, Guus was taken off the ECMO, our families said goodbye to Guus, and in the evening Guus was extubated. He left us about an hour later, december 28th, in our arms.
We washed him clean of blood and desinfectants, washed his scars. That was the first time I washed him. Two days later we took him home from the mortuary, just by ourselves.
Guus is now home with us, every day.
There are so many people to thank, but there is just not enough space to mention everyone. So: thanks; nurses, surgeons, physicians and everyone else who took care of Guus.
Added: October 26, 2014
Name: Feifei and Phillip Cui
Our child’s name: Matthew Cui
The date our child was born: July 28, 2014
The date we lost our child: August 8, 2014
The hospital where our child was treated: Westmead Children’s Hospital
The physicians who treated our child: Dr Orr,Dr Fitzgerald,Dr Popat &others
Our story: Matthew is our first son who is so beautiful and cherished.
I was diagnosed Polyhydramnios when 28 week’s pregnant.After transferring me to Westmead hospital,I was told that my baby possibly had duodenum atresia.
Matthew was born full term lovely and beautiful on 12:51 pm ,July 28th 2014 after cesarean.He remained good for the rest of day and night.He had an operation to fix his gut problem at 8:30 am the next morning and everything went successfully.He was under general anaesthetic and was put in NICU for recovery.I could still remember the doctor told us that the oxygen tube would be removed soon and we were able to take him home after a couple of days.
He remained quite stable for the first two to three days in NICU.But it suddenly became worse after that.His oxygen supply went up really high and his stability was up and down.After trying all different methods, the doctors started thinking of an uncommon disease which causes the lung hypertension but they could not give a diagnosis which could explain why it all happened.
He was critical and finally we had to put him on ECMO on Sunday night.We hoped he would get some rest on his lungs and he would improve. He seemed to be quite stable on ECMO because it does the job for his lungs. Although he was in deep sleep most of the time because of the medication,I was so thankful that he was still alive and I could be with him.
On Wednesday,the biopsy was done at the side of his bed instead of moving him to theatre room.On day after,it confirmed ACD .we were so hopeless and helpless because there is no cure.We decided to let him go instead of suffering more.On Friday afternoon,August 8th 2014 ,It was the first time I really cuddle him in my arms right next to my heart.
I was so sorry that I was not able to feed him and hold him long enough.He was so brave and he kept fighting till the end.There is no sorrow or pain in heaven.I believe he is now living happily at god’s home.
Matthew,We Love You Forever.
Added: October 6, 2014
Name: Sjoerd and Martine
Our child’s name: Loet
The date our child was born: May 13 2014
The date we lost our child: June 20 2014
The hospital where our child was treated: Erasmus Academical Centre Roterdam
The physicians who treated our child: Dr. Sara Naghib, Dr. Kreamer
Our story: Loet was born on 13 May 2014 in a regional hospital looking healthy and beautiful. All went fine and we were able to bring him home. After a few hours we noticed his body temperature dropped to ±34C. We immediately moved back to hospital where we spent the night. The next morning the doctors advised us to go to a larger academic hospital (ACM Amsterdam) for an Echocardiogram of the heart. In the AMC Loet showed severe Pulmonary Hypertension (PHT) and was moved into the Neonatology Intensive care. Nitric Oxide, Oxygen and vasodilators he was kept stable for a few days. When Loet started showing signs of getting weaker the doctors told us that they started thinking about a rare disease that caused these problems. Loet was intubated and moved to the Erasmus Academical Centre in Rotterdam where they have more expertise with PHT and could provide ECMO if needed. Surprisingly Loet got better over time and was not put on ECMO. After two weeks he was ex-tubated and looked good despite the still existing PHT. In the 5th week of his life Loet was intubated again as he had difficulty keeping his O2 saturation up. In a few days where he needed all the support (both NO and full oxygen support) the doctors took a biopsy from his lungs (via small incision in chest). The lung biopsy showed ACD, which explained all. Loet was not placed on ECMO as this would not provide a cure. On 20 June 2014 we had to let go of our son. He did not take a single breath when the tube was removed.
Added: July 16, 2014
Name: Federica di Paolo
Our child’s name: Edoardo
The date our child was born: september 26 2013
The date we lost our child: september 26 2013
The hospital where our child was treated: Ospedale Civile di Pescara
The physicians who treated our child: Equipe of neonatology
Our story: Edoardo is my second child. We already have a daughter, the 2-year-old Sara. More than healthy, likely.
A month after I discovered to be pregnant, we discovered that my husband hat brain tumor. The pregnancy went on very fast and during my husband’s surgeries, rehabilitations, therapies and when in september everything seemed to be getting better and his check-ups finally showed something good, my little son was born (apparently healthy and beautiful) and died only 2 hours after.
the doctors did everything they could to revive him, but he did not respond to anything. they had no idea what had, I think.
After a couple of weeks, the autopsy told us that it was ACD.
Here in Italy it is more or less a still unknown pathology, so I started looking online where I found Francesca Di Benedetto, who directed me to your web site and to the Facebook ACD Parents Group.
after the results of the biopsy of the lung, we turned to a team of geneticists.
After studying the case, they invited us to send the slides of the biopsy at Baylor college, to get them to evaluate their laboratory.
We Know Baylor’s has recived our slides on march 07. Now we are waiting for their prior assessment on the need for DNA testing.
My husband is doing chemotherapy, and this period waiting for answers is very very hard.
We hope to get answers soon.
I’m sorry form my bad english.
Added: March 17, 2014
Name: Steve & Julie Nobbe
Our child’s name: Isabelle
The date our child was born: 1/25/2010
The date we lost our child: 2/10/2010
The hospital where our child was treated: St. Vincents Womens, Indianapolis
The physicians who treated our child: Dr. DeSanto, Dr. Kumar and many others
Our story: Our story starts like many others, problems started to arise at my first ultrasound where Downs was suspected. We opted to not have an amnio. After delivery we were very excited because she did not appear to have Downs Syndrome, she did have a collapsed lung and a small heart defect that would require a surgery when she got older, but other than that we had a perfect little 9 lb 2 oz girl in the NICU. All the nurses loved her so much, she was the chubby-ist little baby in the NICU. Over the next 10 days, she kept having ups & downs, just when we thought she would was getting better and we would be going home soon, she took turn for the worse. Then when she was 8 days old, all her numbers dropped drastically and they were considering the heart lung machine, but we opted to wait for the genetic testing, which was due back in just a few hours. The genetic testing reveled that the doctors were 99% sure she had ACD. With help from the nurses and doctors we made the decision to keep her off of ECMO. She was on Nitric Oxide which helped for awhile. We spent her last week in a private room in the NICU, with her 4 sisters visiting often, helping hold her, feed her and change her and love her of course.
Added: February 11, 2014
Name: Kristen Rilling
Our child’s name: Fallon Jade Rilling
The date our child was born: October 10, 2013
The date we lost our child: October 21, 2013
The hospital where our child was treated: Morgan Stanley Children’s Hospital (New York Presbyterian of Columbia University)
The physicians who treated our child: Dr. Akita and Dr. Bateman
Our story: We have two healthy children (ages 4 & 2) so we weren’t expecting anything to go wrong – why would it? I had 2 prior c-sections, so this one was scheduled to occur on October 11th. My daughter had other plans and I went into labor, early in the morning on October 10th. Fallon Jade was born at 4:44am on 10/10 via emergency c-section. I had no idea that there was even an issue, as she was taken down to the nursery with my husband following closely, while I went into recovery. I was told later by a nurse that Fallon was grunting – and being evaluated by the pediatrician on call. She decided that Fallon needed to go to another hospital, that had a NICU – as the hospital in which we were at did not have a NICU or the capability of treating her. I was distraught that she was leaving me, as they wanted to keep me at that first hospital. We pulled many strings to get me moved to the same hospital as my daughter. I still didn’t understand the severity of what was going on because I was told (by nurses) that she just needed to spend a little time in the NICU, but that she’d be okay and not to worry. Fallon spent less than 24 hours at the 2nd hospital – because they exhausted all treatments – and she wasn’t responding. She had a pneumothorax (which was fixed with a chest tube) and since she wasn’t responding to O2 and nitrous oxide, she had a breathing tube put in and she was sedated. We had her baptized before they transported her to a 3rd hospital in the city. They explained that she needed to be put on an ECMO machine – and that only a few hospitals had this capability. My husband is a police officer and arranged for a police escort to take the ambulance to the 3rd hospital. It had to travel 3 counties, so it actually required 3 different police departments to coordinate this transfer. Fallon arrived with a 2nd pneumothorax (treated successfully) but then she started to crash, and they determined that she needed to go on ECMO immediately. She sailed through ECMO with flying colors. She did SO well that they took her off in 2.5 days. She seemed to do okay for a few days, but her saturation levels kept dropping. The wonderful doctors did everything they could. They constantly called specialists in and they were all wracking their brains, trying to figure out what was going on with our beautiful daughter. No one ever mentioned “ACD” – and I venture to guess most had never seen a case before. Fallon had one GREAT day and we thought things were looking up. We had started to set up her room and build things and get ourselves ready. I had been pumping constantly, assuming she’d need to feed soon. In fact, on her great day (Friday, October 18th), I held up her head and fed her a bottle of breast milk. She was eating so well, they actually called her Miss Piggy. I got to burp her and lay her back down. Later that day, they let me hold her. It was the happiest and proudest moment of my life. I gave her many kisses and sadly put her back down when she seemed to get agitated and needed to rest. I left the hospital that night, preparing to bring a boppy pillow the next day to help in holding her – and was excited to feed her and hold her again. Unfortunately, the next two days, she went downhill. Flabbergasted all of the doctors. They tried increasing the nitric. She was on 100% oxygen. They switched to different type of machines. They tried everything. On Sunday, she coded a few times and I cannot explain the pain I was in, watching them work on my daughter – and bring her back. When those episodes started to get closer and closer, my husband and I decided that it was best for HER, to let her go. When her stats started to drop in the very early hours of Monday, October 21st, they took her off the machines and let me hold her. We hugged her and kissed her and told her we loved her. We sang to her. And we watched as she took her last breaths. I was so happy to be holding her when she passed – but also severely heart-broken. My two other children never got to meet their little sister. My heart broke for them, because they didn’t understand. And because they lost out on living with and playing with their little sister. We agreed to an autopsy because we wanted to know, almost as much as the doctors did, what happened. We found out yesterday, when we went in to go over the final report, that she had ACD/MPV. Devastating. Our hearts broke for the second time. We love her so much and miss her even more. Thank you for allowing me to post about her – it helps me feel like I am honoring her. I just love to talk about her. I’ve never seen such strength and determination. She is FOREVER my hero.
Added: December 19, 2013
Name: Jen and Keith Agamaite
Our child’s name: Briggs
The date our child was born: March 11, 2013
The date we lost our child: March 15, 2013
The hospital where our child was treated: Children’s Hospital of Milwaukee
The physicians who treated our child: Dr. Basir
Our story: Becoming pregnant wasn’t supposed to happen. Keith’s surgery was supposed to prevent a pregnancy from happening. When we found out, we were shocked. We had decided our family was complete and now our plans would all have to change.
As the baby grew, so did our love for him. We loved him, we were excited to welcome him into our family, and as the ultrasounds revealed more and more “concerning” possibilities, we prayed for him.
The whirlwind of doctor’s appointments and worry began with a nuchal translucency measurement of 3.4. Since a normal measurement is around 2, we tested for Downs Syndrome, Trisomy 13 and 18, all of which are the most common chromosomal abnormalities associated with thickened nuchal measurement. Often, babies with a thick NT turn out perfectly fine. When our results came back negative for these chromosomal abnormalities, we thought we would just have a little linebacker. I wonder now if this was an indicator for ACD, which is thought to be a mutation or deletion of the FoxF1 gene.
The following month, another ultrasound revealed Briggs had a Single Umbilical Artery. Instead of the cord forming three vessels (two arteries and one vein), it formed one of each. This alone is not a huge cause for concern; however, this condition does increase the risk for certain birth defects. It was also a second red flag, but we continued to remain optimistic.
Briggs continued to grow. He seemed to be healthy and happy. In fact it was my health that started to concern the doctors. At six months, I was diagnosed with polyhydramnios, an excessive amount of amniotic fluid. Most cases are mild, but it can cause preterm labor. My doctors must have thought mine was mild because they never talked to me about how to identify preterm labor or what to do if I thought I was experiencing it. They also never mentioned that a known cause of polyhydramnios is a birth defect that affects the baby’s gastrointestinal tract or central nervous system.
Appointments every three weeks turned into every week and my blood pressure began to rise. I started tests to check for pre-eclampsia, but didn’t have time to get results.
It was a Sunday night and I was feeling horrible. Back pain, vomiting, diarrhea. The on call doctor thought I had the flu and told me to drink more fluids. Luckily, I had another ultrasound scheduled for the next morning.
The flu like symptoms had stopped, but the pain was worse. I was admitted to the hospital at 10:30, told I would be there a few days so they could continue testing and stop my labor. The nurse said my body couldn’t take care of myself so it was trying to eliminate the baby. That’s comforting.
An hour later, my water broke. Two pushes later, Briggs was born.
He did not cry. I did not get to hold him. They whisked him away to the NICU and I was left with the shock of what had just happened. It was so quick.
When I visited him later, I was told he needed to be transported to Children’s Hospital for surgery to repair his imperforated anus.The doctors were not aware at that time that Briggs had more serious breathing issues. We learned of his pulmonary hypertension the next day in Milwaukee.
Still, we didn’t worry. He was in the best place he could be. A few days was all he needed, we were told. When those few days came and went, the doctors became more concerned. Still, we didn’t worry. I never imagined I’d walk out of that hospital without my baby.
But that is what we did. We said goodbye. We held him for the first time. I rocked him to eternal sleep, singing softly the lullaby I had sung to him the past five days. But in the end, my sunshine was taken from me. The sun had set and we had nothing left to do but walk down that long corridor in silence.
Added: July 4, 2013
Name: Roelina Jut
Our child’s name: Jasmijn
The date our child was born: 8 februari 2013
The date we lost our child: 23 februari 2013
The hospital where our child was treated: UMC st. Radboud Nijmegen
The physicians who treated our child: Dr. V. Christman and the other doctors of the NICU
Our story: 5 weeks ago our beautiful daughter Jasmijn sadly passed away. After 2 weeks of fighting for her life on ECMO she was diagnosed with ACD. My partner and I both knew notting of the existence of this terrible disease b*** in this short time, unfortunately, we became a lot wiser. After a trouble-free pregnancy of 37 weeks, our lovely girl Jasmijn was born in the hospital completely healthy at 9:40 am in just under 2 hours. She cried lustily, colored beautiful pink and scored on her Apgar a 9! Everything seemed perfect and we could not be happier! The whole day our little girl was doing good, so good that we would go home the next morning. That night it suddenly went wrong, at 2:00 am our daughter got trouble breathing. When I called the nurse her lips already turned blue. She was immediately brought to the NICU were they tried to stablelize her for 16 hours. She was diagnosed with a severe high blood pressure in her lungs, but they didn’t know excactly what was going on. After 16 hours it appeared that Jasmijn only would have a chance on ECMO. In the hospital in Zwolle (Netherlands) where we stayed at that moment wasn’t an ECMO and Jasmijn had to be transfered to the UMC Radboud hospital in Nijmegen nearby. When she arrived at Nijmegen Jasmijn had become so sick that the doctors almost gave her up. She was reanimated 3 times but every single time she fought back. Our little girl wasn’t planning on giving up so quickly. After 1 hour she was succesfully put on ECMO. 2 weeks she stayed on ECMO and during that time the doctors searched for a reason why she had become so sick. We hoped that they find something being the cause, but after a while many options were ruled out. Although doctors had prepared us that ACD possible could be the reason,we stayed positive that they find something else rather than ACD. Especially considering the enormous rarity of which this disease occurs. But, when after 10 days the doctors still could not set a diagnosis, everybody knew that the reason why our daughter had become sick was not a positive one. To be sure what the cause was, doctors had to remove a piece of her lung for research. A dangerous surgery we were told, but as a miracle she survived this obstacle yet again. A while after the surgery Jasmijns condition quickly turned worse. It was all to much for our little girl. Exactly 2 weeks after her birth we finally got the results back and she was diagnosed with ACD. Our world collapsed! That same evening we decided to let our daughter go, it would not be fare to here to let her suffer unnecessarily any longer. That night Jasmijn died peacefully in my arms… there where it all started… In those 2 weeks our beautiful little girl fought so hard for her life. It was just amazing to see how a little child could have so much strength. However, it proved to be a battle that unfortunately she could never win. We miss our beautiful daughter very much but we are also immensely grateful that we have met this little combative human being! She changed our lives completely… for the better.
Now, 5 weeks after Jasmijn passed away, we started to participarte in a research into the genetics of ACD. While we are still awaiting for the results it is not standing in our way to go for a new pregnancy. We hope that through prenatal testing we can rule out any repetition of this terrible disease. We are so thankfull that Jasmijn has come into our lives. We now know how special it is to have a family and we hope, despite all the trouble, that we are able to get a healthy little brother or sister for her in the near future. Not as a replacement for our daughter, but as an enrichment to our lives! Also we hope that through research they will find more about the cause of this terrible disease and maybe even figure out some kind of cure. It would be so nice if future parents will be able to discover this diseas in a early pregnancy stage and not have to go through the same…
Added: April 2, 2013
Name: Mariska Harding
Our child’s name: Dominique
The date our child was born: 4 February 2013
The date we lost our child: 5 February 2013
The hospital where our child was treated: Femina Hospital South Africa
The physicians who treated our child: Dr C Schuman
Our story: Our baby girl was born at 39 weeks and was perfectly fine at birth. She however started to turn blue plus minus 8 hours after birth and was rushed to NICU. She was placed on a ventilator and given oxygen. Despite various attempts by a teriffic team of doctors and nurses our little angel died on the 5th of February aproximately 28hours after being born. A lung biopsy showed that she had ACD. As it is a vary rare disease not much information could be given to us. We are hoping that it is not something that will happen again as we would like to have another baby in the near future.
Added: March 6, 2013