My name is Amanda Havens and my son Brayden Matheu Pearson was born with a rare genetic disease.  He was born with ABCA3 surfactant deficiency and most do not know about this disease.  He does not produce the surfactant in his lungs to transport the oxygen in his blood stream correctly.  It can also cause his lungs to stick together if they were too close.  Brayden cannot oxygenate on his own so he requires a ventilator to do the work for him.  He has been fighting since day one.

Four hours after he was born, he was transported to Children’s Hospital in Columbus Ohio.  He has been there ever since and he is completely dependent on the ventilator to breath for him.  There is no cure for his disease and the only option for him is to have a double lung transplant.

About a month-and-a-half after his birth, Brayden was put on the transplant list awaiting his new organs.  The doctors tell me this is not a cure, and that it’s going to be a lifelong regimen of medications to keep him from rejecting.  Also, the survival rates for transplants are not the best and there is a fifty percent chance he may not make it past the age of five.

It’s a day to day battle for Brayden and he is on sedation’s to keep him comfortable.  So far he is has been the best little fighter a mom could ask for.  This is Brayden’s story and I am hoping for more to come.

Amanda Havens
Ohio

34 thoughts on “Fighting ABCA3 Surfactant Deficiency Since Day One – Meet Brayden”

  1. Chris Hempel says:

    Praying for sweet little Brayden!

  2. Mary Boitz says:

    Amanda – I recognise this because we’ve been through it. Our son James was born with ABCA3 surfactant deficiency (like you, we’d never heard of it before his diagnosis). James’ start in life sounds very similar to Brayden. He was taken into ICU 4 hours after birth with breathing difficulties and went onto the ventilator the next day. He stayed on the ventilator for the next 4 weeks and at one point was DNR and within minutes (literally) of dying – the hospital staff had switched off the monitors and given him to me to hold. BUT the hospital we were in had put out an international all for any doctors who had had any ABCA3 cases to advise them of anything that had helped. Great Ormond Street in London advised them to try a mixture of a big dose of steroids (prednisolone) and hydroxychloriquine. For James, it got him off the ventilator and breathing air – something we were told was impossible at the start. I know of another baby who had heard about James who told their doctors and again was given the same treatment and has gone home.

    We were told, like you, that the only treatment was a lung transplant – but that James could only be considered for one at the age of 18 months to 2, depending on how big he was. At that point we couldn’t se him ever reaching that age, but he turned 2 over the New Year and is showing no symptoms of the ABCA3. We know it’s still there and that the future is still very shakey, but the older he gets, the better his chances of a successful transplant. Please tell your doctors about James and ask them to contact Dr Bush in the UK. Maybe Brayden can be helped in the same way. Praying for you all – we know how this feels and how difficult it is.

  3. Amanda Havens says:

    Mary, Would you be able to contact me and tell me more about what they did because I now that they had treks some kind of sterile but it didn’t have much effect if this would work on him I would be so happy but if you Mary could contact me at my email I would love to hear more about this and how to contact the doctor you are talking about.

  4. M Thornton says:

    Hi the patient at Great Ormond Sreet who is being treated for the above condition is my daughter , who is now 13 years of age and has been treated at that hospital since she was three months old and is still being treated there today,they have told us that she is the oldest child that they currently know of with this condition and the one that they can relate to regarding treatment , and as above has had the same medication but now only takes Hydroxychloroquine, we went up to GOSH yesterday and they are always amazed by how well she is doing, she leads a very normal life, attending main stream school and does most things that a child of her age can , this is not to say that when she is unwell she is very unwell and of her future nobody knows.
    If you would like to talk contact me via my email.

  5. Pamela Blair says:

    My nephew has surfactant deficiency and is in need of a transplant for both lungs and both kidneys. The doctors tell us to think of his well-being but we do not want to give up. Any help or information that you can provide will be greatly appreciated. My nephew is 8 years old he just had a birthday, and has been quite ill since birth. Also, the hospital said that he was not a candidate for dialysis.

  6. Crystal says:

    Hi, I read your story and just thought I’d share mine with you. My daughter was born full term weighing at 8 lbs 7oz. She was a very healthy little girl. At 9 months old she started to get sick. At first she had RSV and the pneumonia and back and fourth for several weeks, so she was hospitaled and put on O2. We were in the hospital for about a week and then we were released to go home, she seemed ok. After a few days I started to notice wheezing and shortness of breath, so I took her to her family dr and we were transported by ambulance to a Children’s Hospital where she was placed in ICU and on O2. Over several months many test were done and her number of liters of O2 continued to rise. She was on 12-14 liters of a high pressured O2. Finally some test resluts came back that revealed she had abca3 surfactant deficiency and that her only chance for survival would be to have a lung transplant. I never gave it a second thought, I new that I would do anything in the world to give my daughter a second chance at life. A week later were air ambulanced to Texas Children’s Hospital in Houston TX where she had a tracheostomy done and put on a ventilator. She couldn’t breathe at all on her own so the vent had to do most of the work for her. Through it all she was a strong willed, happy, and very intelligent little girl. Her smile and her ability to never let anything get her down, gave me the strength to keep fighting and stay strong for her. She recieved a transplant a few months after being listed. I’m not going to lie and tell you that it was an easy road after transplant. She had many complications and several more months of being in the hospital. We still have therapy every week, a feeding tube, and alot of medicines to take but it was all worth it in the end. My daughter just turned 4 years old. She is 2 yrs and 3 months post transplant, and living her life to the fullest. She doens’t let anything slow her down. I’ll be praying for your son.

  7. Kertu Koldre says:

    Dear M.Thornton,

    I am a mother of a soon two-month old Nora Elise Koldre who is still waiting to be diagnosed at Tallinn Children’s Hospital as we speak. All the signs now point to a rare surfactant disorder, DIP. The 3-gene test is being done as we speak. She is a full-term baby who developed breathing difficulties straight after birth via C-section. At first the doctors suspected the wet lung syndrome, but when she still hadn’t recovered after 3 days under CPAP they thought that maybe she had some kind of an infection in her lungs. All the tests came back negative. Then she had a bronchioscopy where they ‘washed’ the lungs and examined the fluid, but nothing again was found. Then, in the end, on 15 March a biopsy was taken which showed desquamative interstitial pneumonia. DIP is a very rare diagnosis in the world, let alone Estonia, one of the smallest countries in Europe. I think this must be the first case ever diagnosed in Estonia. Therefore, our doctor, the head of ICU at Tallinn Children’s Hospital, Dr. Ilmoja and my husband and I are looking for specialists who could advise our doctors’ team as to the further treatment of our daughter. I would be eternally grateful if you could talk to your doctor(s) at Great Ormond Children’s Hospital and tell them about the rare case happening now in Tallinn. Maybe, by any chance, they would be willing to share their experiences and advise our doctors here in Tallinn as to the further treatment of our daughter. I’ll leave my e-mail: keeltekool@keko.ee
    and Dr. Ilmoja’s e-mail address as well:
    Mari-Liis.Ilmoja@lastehaigla.ee

    At the moment Nora Elise has received her first step of pulse therapy with methyl-prednisolone and she is breathing on her own with 1,5l of oxygen treatment.

    Gratefully,

    Kertu Koldre

  8. Amanda Havens says:

    I wanted to give an update on Brayden. His doctors have started him on the treatment that Mary had told me about and he has been making some progress on the ventilator. His pressures have been turned down, his rate turned down and also his oxygen level has also been down the lowest it has since he was born. They started his second rounds of these meds and I am hoping for some more progress. I wanted to thank you Mary for telling me about this treatment. Brayden has been a happier baby since they have made these ajustments on his vent. He is six months old and is doing better than the doctors that had dianosed him thought he would be by this age. He is a fighter. He is still on the transplant list but praying for more progress in the future on his vent.
    And Pamela Blair feel free to emial me with any questions you have I would love to be able to help in any way.
    And Crystal thanks for sharing your daughters story. It is definatly an inspiration to never give up hope. I have been in contact with a few moms who have went through this whole thing and through transplant and I know it wont be an easy road but its worth it for Brayden. I had the option of Brayden going to texas childrens when he was diagnosed and almost went but they said that he was not stable enough to be transported to I stayed here at Nationwide Childrens. Its a smaller transplant center, but the team is amazing. Thanks for the prayers it means a lot.

  9. Mary Ellen Doblecki says:

    My thoughts are with you and I pray that Braydon is OK? My grandson was born full term wth ABCA3 surfactant deficiency. He is three years old and on o2 during the night only. He is also on Plaquinil and Zithromax . He was on steroid IV pulses for about a year. There is a foundation called CHilds which stands for Children’s interstitial lung disease which has a group through Yahoo. They can be helpful.
    There are docs throughout the US who specialize in ABCA3. One is at Denver Children’s , Baylor, Cincinnati and others . I hope this helps you.

  10. Molly says:

    My daughter is 2 years old and was diagnosed with surfactant deficency abca3 at 3 months. she spent the first 3 months in the hospital on all kinds of breathing machines. They kept telling me its just prematurity (she was only 6 weeks early) my mom and i knew something wasnt right and it was more then that but didnt know just what. she spent half her time in a local hospital after several faild atempts og getting her off oxygen they transfered her to iowa city. they ran several test that all came back normal. after 2 weeks there they ran a genetics tesy … They found sh has abca3 they let me take her home but on oxygen,monitors, steroids, and a diuretic. She was doing way better then expected and has been off oxygen since 1!!! shes still on her meds and gets short of breath very easy but is thriving very well! i would like to get in contact with others affected by abca3 feel free to email me at mollyroling@gmail.com

  11. Wendy says:

    Hello,

    My first daughter was diaignosed with abca3 surfactant deficency and was pulled of the ventalitor and passed away at 6 weeks old. I had a son a year after and is healthy and thriving. I gave birth to another daughter almost 3 weeks ago and it look like she may have the same surfactant deficiency as my first. There are some differences though between the two. She has responded very well to the 3 doses of surfactant that they have given her (a few days after she does go up in oxygen) were as my other did not after the first dose. She is also on 40-50% oxygen depending how she is feeling that day on good days she will even go down to 30%. My first was always on 80% and never went down much. She is now in Sick Kids hospital in Toronto Canada were it seems that they dont really know much about this disorder. I would really appreciate if anyone can give me names or emails of Docs anywhere to help us out with this matter. we are trying so hard to do what ever we can to save her. They also said that there are different abca3 gene mutations, I have never heard of that with my first if any body could let me know if they were aware of this please let me know. Right now she is on a concotion of 3 medications docs said they didn’t know how long it would take days or weeks but after 3 days of being on the medication I am being told its not working even though they clearly said they didn’t know how long it would take. Again, I would really appreciate if anyone can give me name and/or emails of the doctors so I can have my doctors here get in touch.

  12. Hi I am the mom of 2 boys born with ABCA3 protein surfactant defiency Pulmonary Fibrosis and I was told they wouldn’t live past 2 but here we are. My youngest, almost 18.. Had a double lung transplant 12/1/11 and has mild rejection and fungal infection. My oldest just turned 20 and is on waiting list for transplant. He stills does 1000 mg of methylprednisolone three days a month and he takes 100 mg of plaquenil twice a day plus he has JRA and a PFO and pulmonary hypertension. We live in MT. My boys have a site on Facebook….New Lungs for Life.. If your interested…. I will help answere any questions if you need…have a good weekend

  13. Daniele Cross says:

    Hi, I have 2 boys with ABCA3. My youngest had a lung transplant and my older son is still waiting. He is currently in a medically induced coma on the ventilator. They have a website on Facebook, please email me if you like to read it

  14. Sorry I left 2 posts, I didn’t realize. My email is dani59802@yahoo.com

  15. Amanda Havens says:

    Wendy sorry I havent checked this page in a little while because of not having internet Im hoping your little one is responding to treatment..I know some great doctors who could help out and a few familys in canada who would be of help to you also. If anyone here ever has any questions or anything feel free to email me Manda0826@yahoo.com…and Brayden is still doing good he has a fb page so if anyone has any questions you can also reach me through there it is Braydens Brigade (Brayden Mathue)

  16. Melanie Thornton says:

    Hi I am just giving an update on my Daughter Yasmin who will be 16 in May and is still under the care of Great ormond Street Childrens Hospital London. She was diagnosed with ABCa3 and Interstial Pneumonitus and Fibrosing Alveolitus at birth.
    She is still on her long term medication of Hydroxychloroquine and Oxygen therapy when required.
    In July she will leave school and and go to college.
    We are extremely proud of her and the challenges she has overcome to lead a normal life with her illness and with only 48% of her lungs that are working.
    Good medical care and careful monitering and continuing love and support from her family has helped Yasmin get to where she has got today and long may it continue.

    .

  17. Faith says:

    Hello my name is Faith. I delivered a full term baby on June 3, 2014. We sent gene study off at 7days old awaiting result. Discussing steroids use now. Can moms please contact me by email with doctors email address so my son can get the best results from the steroids treatment. We live in Atlanta Georgia.

  18. Jamie Masiakowski says:

    I am so happy to find this site. My son was diagnosed with surfactant C deficiency in Sept, and I have found little research on it. I was feeling so lost because its so rare. My husband and I are currently researching transplant hospitals, knowing that is in our son’s future. He is currently on steroids, oxygen, and other meds to aid in his breathing. It took 18 months before he was diagnosed. He was a full term, healthy baby. He didn’t get sick at all until 11mo’s, but was sick continually after. I would love to connect with other families who understand what were going through, and offer any knowledge they’ve gained through the process of caring for their child.

  19. Diana says:

    Hi .. My baby boy was born with the surfactant c deficiency. Its Been three months already And he is still on a ventilator. They Been giving him steroids And hydrocloriquine but has not have no improvements. I am really desperate. Doctors aré trying To do the tracheotomy soon To see if i get him Home like that. I dont know what To do or think but To have faith that My little one Will get better

  20. Carmen says:

    My son Gabriel was born on July 31st 2014, full term 7 lbs 6 ounces healthy beautiful boy! At 10 days old he started to cough. Since then we were visiting drs. And it wasn’t until we took him to John Hopkins Children’s Center at Baltimore and they run a genetic test and my son was diagnosed with abca3 deficiency. He was hospitalized since October 22nd 2014 to January 5th 2015 in JH . He was transferred to Children’s hospital in Philadelphia for a lung transplant. He is in very good hands. But as a mom sometimes I don’t know what to do. Please feel free to contact me I need advice . crsantos31@gmail.com

  21. Resa Helikar says:

    Hi Jamie,

    If you are still interested in connecting with others, our son is 8 months old and underwent double lung transplant for surfactant protein deficiency. You can contact me at resaresa09@gmail.com.

    Hope to hear from you, Resa Helikar

  22. Carmen says:

    I just wanted to give and update about my baby. He got his transplant on March 23rd and he is doing amazingly great!

  23. Libby says:

    Hello , my son is 7 and just been diagnosed with surfactant deficiency C . We are under great ormand street aswell . I only found out 2 weeks ago and we are going on the 14th July for them to explain it better to me . I can hardly find anything about it on the internet . They told me it was rare but he has another rare genetic disorder called PKU and there is information all over the internet for that . I can’t believe I came across this post after endless searching for some answers .

  24. Christian says:

    Hello Mary. I know its been 3 years since your post and might not be on this forum anymore, but our son has a similar ABCA3 situation and wanted to see if I could get more information on the treatment your son received and see if it could be a course of action for ours. He is 4 months old and is on .4 liters of oxygen, from what I’ve read it’s not that much. We are looking for any help/advice that we can get and help our Dr’s too. Thanks for your time!

  25. Angelique says:

    Hi Mary and everyone, thank you all for your stories of inspiration. I want to share our little Emily’s story. She was born on 8 October 2015 (also mommy’s birthday) and the day after her birth was struggling to breathe and immediately put onto oxygen, but my husband and I knew something was horribly wrong and managed to get her to a better hospital (and we did) where they put her onto a ventilator straight away. They did the X-Rays and noticed her Right lung had collapsed etc. The doctor’s told us what they suspect is wrong with Emily (Congenital Surfactant Deficiency) and then put her onto the Oscillator Ventilator. During all this time she had a blood transfusion, steroids, artificial surfactant etc. My husband did research for many nights and also came across Dr. Bush in the UK (whom was very helpful in giving all the information he had and the treatments as Mary described), but unfortunately those medicines are not available in South Africa and Lung Transplants are not done on Newborns here. Unfortunately our little Emily Grace Baker passed away on 25 November (7 weeks old). We tried just about everything we possibly could, but she did not make it. Fortunately we have her big brother (6 years old) whom is healthy. We are so proud of her for fighting so long. Emily’s results were confirmed today (20 January 2016) that it was in fact Congenital Surfactant Deficiency ABCA3. We are praying for little Brayden. Please keep us posted.
    Love,

  26. Syeda kaunan says:

    Hello Christian
    I hope your child is doing well. And i hope you got in contact with Dr Bush of London. If you need something or details of Dr Bush, feel free to write me
    kaunan.jaffari@gmail.com

  27. Ioana Duca says:

    Hello, my nephew Sebastian, two months old is diagnosed with the same ABCA3 surfactant deficiency. It is the first recognised case until now in Romania and despite doctors effort we were told that there are few chances to survive, so we began to search on internet and found your stories. We began the treatment Amanda presented and in addition we use Clenbuterol. Could you please help us with more info? We wish all the best to all children fighting this disease.

  28. Angelique says:

    Good day Ioana, our daughter passed away last year (our story in comments)… If you want I can send you all the info we received during and after… She was also the first reported case here in South Africa (as far as we know). If you don’t mind please send me your details and I will forward it onto you? If you want you can go onto her facebook page (Emily’s Miracle) to send me a private message. Kindest regards, Angelique

  29. Ioana says:

    Dear Angelique, thank you for your answer. I admire your efforts despite your great loss. Sebastian, my nephew, the single child in our family, is 8 weeks old. I read the treatment Emily had and their stories are similar with the exception of surfactant administration. The baby has not received this yet as the doctors fear to provoke a lung hemoragy.
    I also read you contacted Dr. Bush in UK. Could you please provide me his e-mail address and his telephone number?
    My e-mail address is: somfaleanioana@yahoo.com

    Best regards, Ioana

  30. Hi moms I just found out that my daughter has ABCA3 deficiency. Me and my husband have a meeting with doctors on Wednesday 01/04/17 to see the plan for our baby girl. Do anyone have any suggestions that I can ask or give to the doctors to help my baby girl? She was given her 4th dose of surfactant medication today. She was full term 38 weeks 2 days. Can someone please give advice or knowledge so I will know what to expect?

  31. Hi Latoya, so sorry to find out about your little girl being diagnosed with ABCA3. It truly is a terrible disease. If you don’t mind me asking where are you guys situated? Our little girl, Emily stopped breathing the day after birth and diagnosis could not be confirmed, but doctor’s knew it was ABCA3. We have done research (the doctors so much more), but there was nothing they could do for her as there is no known cure for Surfactant Deficiency ABCA3. Lung transplants are not done in South Africa on children, let alone babies (public sector). Emily lived for about 8 weeks, fighting every second of her life. I can send you a few links we came across recently regarding ABCA3. Please contact me on Emily’s Facebook Page. Stay strong. Kind regards, Angelique

  32. Mike Newcombe says:

    Hi Latoya,

    Likewise, so sorry to hear of your diagnosis. My son Arlo was born full term 7 months ago and has ABCA3 deficiency. He is completely reliant on ventilator and has unfortunately never left hospital. It is an incredibly hard road but we have heard of incrediblke turnarounds so never lose hope. Happy to chat if wish to discuss treatments etc.

    Very best wishes to you all

  33. Hi Latoya,

    Our son was born with the same thing. He is doing well. Feel free to message us on facebook:
    https://www.facebook.com/Liam-The-Journey-of-a-Lung-Transplant-Baby-499002706962807/

  34. Jack Lester says:

    Hello, my name is Jack and we have been battling a surfactant deficiency with my son Marcus since he was born. Today I have taken the time to reach out to other families looking for similar stories and diagnosis that are comparable to our son Marcus. Marcus is 7 years old now and is entering the second grade, Marcus is oxygen dependent and cannot go without it for a second. Although he cannot keep up with his classmates he refuses to give up and is constantly pushing his limits and his wants to be like others. We are a family from Rochester looking for input and help with this issue. I am looking to start a support and networking group, involving doctors, nurses, patients, parents and anyone that has played a part in our lives. I’m done staring down an empty road and I want answers and ideas about what we can do to help these children live a better life! They deserve it, we deserve it and I feel like it may take an army. Please reach out if you have any thoughts or suggestions on how we can all come together to help our children. Hope to hear from you all soon.
    Thank you & God bless

    -Jack

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