What is Potters?

Potter Sequence
Philippe Jeanty, MD, PhD & Sandra R Silva, MD
 Several entities use the eponym Potter:
1) Potter syndrome, now renamed either oligohydramnios sequence or bilateral renal agenesis (BRA)
depending on whether the cause of the syndrome (BRA) or the mechanism is referred to.
2) Potter syndrome Type I is now referred to as Autosomal recessive polycystic kidney disease
3) Potter syndrome Type II is now referred to as Renal dysplasia
4) Potter syndrome Type III is now referred to as Autosomal dominant polycystic kidney disease


Our son, Christian died from Type II, Renal dysplasia.


WHAT IS POTTERS SYNDROME?

 Potters Syndrome is the term used to describe the total absence or malformation of infant kidneys. The condition gets it name from Edith Potter who first described the condition in 1946 at the Chicago Lying-In Hospital in Chicago. Prior to this there had been several isolated studies done on infants with the condition, some even date back as far as the sixteen hundreds but up until this study it was presumed that the condition was extremely rare. Dr. Potters investigation concentrated only on total Renal Agenesis (absent kidneys) but since then the name has been extended to any condition where the kidneys fail to develop fully.

WHAT IS A SYNDROME?
 A syndrome is a collection of associated problems, which relate to one primary problem. In simple terms with Potters Syndrome the main problem is that the kidneys are missing but because of this other problems arise. The kidneys cannot produce the fluid to develop the lungs so therefore the infant’s lungs are underdeveloped as a result. Also related to the lack of fluid are the physical features of Potters Syndrome. The infant is so tightly packed in the womb that the limbs may not form properly and the face may show certain features such as a flattened nose and chin etc. All of the above go to make up a syndrome which are directly connected to the one major problem, which is the absence or malformation of the kidneys.


WHAT DID DR. POTTERS STUDY SHOW?

The first study was carried out on 20 infants who had died over a ten-year period. In the group there were 17 males and 3 females babies. Of the 19 available maternal histories the mother’s ages ranged from 18 to 39 years giving an average age of 24 years. Two of these women had had previous abortions, only two had more than two previous pregnancies one of whom had 11 children. Nineteen of the mothers were white and one was Negro. There was therefore one common link between the mothers with regard to age, race or number of pregnancies. 

 She also noted that these babies were more likely to be born live rather than stillborn. In the group fetal death occurred prior to labour in one infant, during labour in six and after birth in thirteen. The length of life varied from 25 minutes to 11 hours 15 minutes giving an average life span of 1 hour 38 minutes.
 Of the 16 babies where the gestation of pregnancy had been record the number of weeks varied from 26 weeks to 40 weeks giving an average delivery time of about 32.5 weeks.
 Dr. Potter was unable to establish the amount of amniotic fluid present with each baby and therefore was unable to establish the important link between the kidneys and the production of the fluid. This was only discovered and confirmed later. The cause of the death was mainly associated to the malformation of the lungs. There children also showed similar facial features such as the wide set eyes, a slightly compressed nose, low set flat ears and also a compression of the chin. Other physical features were clubbed feet and some with club hands. With the female babies it was noted that their genitalia were extremely under developed where as with males the development for the most part had been perfectly normal.

SUMMARY: Dr. Potter concluded that the incidence of this condition was somewhere between 4 and 7 deaths per thousand deaths in newborn infant. She also noted that there was no relation to maternal age or to method of delivery or to complication during pregnancy. The infants were predominately male. The lungs of the infants were all severely underdeveloped or hypoplastic and that all the infants showed characteristic facial expressions. Prior to post mortem examination only 8 of the infants were believed to have died because of malformations.




  WHAT DO WE NOW KNOW ABOUT POTTERS SYNDROME?
OCCURRENCE RATE: The incidence of Potters Syndrome is said to be somewhere between 1 in 2000 and 1 and 5000 the average would suggest to be on occurrence rate of approximately 1 in 4000 births.
SEX LINKAGE: Potters Syndrome is predominately a male condition with an occurrence rate of approximately 65% - 80% male babies.
TIME FACTOR: complete Renal Agenesis (or absence of kidneys) must occur before 31 days of fetal development.
CAUSE OF DEATH: The primary cause of infant death is respiratory insufficiency. The fetal kidneys are responsible for the production of the amniotic fluid in the womb. The baby then inhales the fluid into its lungs which in turn causes the lungs to grow.  When the kidneys are absent or not working the vital fluid is not produced and therefore the lungs cannot develop properly and therefore when the baby is born it is unable to breath properly.

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ABSENT KIDNEYS: These infants could for up to three or four days with absent or redundant kidneys if the lungs had any other way to develop but because this is not possible the maximum life span for a baby with renal agenesis would seem to be about 12 hours. Where there is some kidney development with a little kidney function the life span could be slightly longer but the child would probably need the aid of a respirator and probably dialysis.

CHRISTIAN DANIEL, my glory baby

WHY DO POTTERS SYNDROME BABIES SHOW SIMILAR PHYSICAL FEATURES?
 When the amniotic fluid is missing the baby lives in a very tightly packed enviroment and therefore will demonstrate very compressed features. Normally the baby is surrounded by the fluid, which allows freedom of movement, and of growth. It helps in the development of the babies muscular and skeletal system. Inhaling the fluid is also vital to the development of the baby’s lungs. The fluid prevents fetal parts growing unevenly and being pressed against the wall of the uterus or womb. With Potters Syndrome the babies face and head will be squashed in the womb and thus lead to the very flat, low-set ears. The nose and chin will also show compression and the nose can sometimes is described as beaked. The muscles will also be under developed as the baby will not have much room for exercise and the feet maybe turned- in otherwise described as clubfeet.  The baby may also have underdevelopment of the hands, which can be described as club-hands.

HOW CAN THE BABY SURVIVE IN THE WOMB WITH POTTERS SYNDROME?
 In the womb the baby’s life is dependent on the functions of the placenta. The placenta acts like a life-support system and filters products and food from the mother to the baby and then back out into the mothers system for disposal. The amniotic fluid, which is normally a straw colored and clear substance, consists of 99% water with small amounts of protein, glucose, and salt and also contains shed cells from the baby. The baby’s urine is mostly water because the mother’s kidneys are functioning via the placenta for the baby disposing of any waste products. Therefore the baby can survive without its kidneys as long as the placenta is functioning normally. The problems for the baby will more than likely only show after birth.

WHAT IS THE RISK OF A REOCCURANCE OF THE POTTERS SYNDROME?
 In the vast majority of cases this is an isolated abnormality and in this respect it is unlikely to recur in the same family. Statistically however once you have had one Potters Syndrome baby the risk of a reoccurrence of some kind of kidney defect is put at about 3%. In a few cases there maybe an abnormality of one kidney from either parent in which case the risk of having Potters Syndrome again may be up to 10%. Rarer again is when there is a genetic link to the syndrome when the risk maybe as high as 1 in 4.
Thankfully the bulk of cases of Potters Syndrome has no parental link and therefore is unlikely to ever happen again. The most difficult issue to deal with is that with these cases there is no explanation as to why it occurred in the first place. It has not yet been discovered just what is responsible for this syndrome. It could be related to chromosome activity or D.N.A. but why it is just the kidneys which do not grow or which malforms is anybody’s guess.

One positive thing through this...

My father was an alcoholic. We did not have a close relationship while I was growing up. I did not know him personally nor what he went through as a child to make him unhappy, drink so much and angry at many times. I don't remember quality time spent with him. Whenever family was together he was drinking, drinking to get drunk and most of the time, pass out. I have so many memories of being in the car with him intoxicated and driving head on to another car because he was in the wrong lane... very young I witnessed him on many lawns fist fighting with family members and friends who were trying to keep his keys, plates full of food were thrown across the room, fights between him and my mom as she was tiring of the drinking, being so full of rage that he would enter my bedroom and tip my dressers over, he threw my tv, broke everything he could get his hands on... and the next morning not remember a thing.

He did have a great side to him. He was adventurous... he loved being outside, loved camping and exploring. But, alcohol was always involved. It's such a shame alcohol and drugs were a big part of his life. I can't help but wonder what my childhood and life would have been like if he didn't drink and was more involved with his kids.

We never talked about anything important. He knew nothing about me, about my love for art or my desire to become a graphic artist. He kicked me out of my house at 17 and threw everything I owned onto our front lawn. I drove to my house with a friend and saw my entire bedroom thrown outside.

I lost every piece of my childhood on the lawn that day as I had no where to go, no place to put my things and in anger at him I turned around and left, left everything I owned there. We didn't talk to each other very often after that. When we did get together, there was no love and only shallow conversation as it had been my entire childhood. I can honestly say I hated my father. I hated him my entire childhood. What kind of man turns into a father that makes his children fear him.

When I found out my son was going to die. I called my dad. I broke down and cried out to him. He was deeply and sincerely concerned. I heard love and compassion in his voice that I had never heard before. From that point on he went to every doctor appt I had. He sat in during the last ultrasound and he pleaded with the doctor to do something to help Christian. He knew how frightened I was and he was trying to fix it. For the first time I felt like my dad cared and he was trying to protect me.

He called me everyday to ask how things were going and how I was holding up.

I called him the morning I was in labor and heading to the hospital. He didn't go to work, instead he came to be with me. He didn't make it in time to see Christian alive, but he did see him... mom said he just stared at him and tears developed in his eyes. He then sat with me and mom for quite a while. I think seeing Christian and how emotionally devastated Andy and I were, touched a part deep inside him.

After we lost Christian my dad called almost daily and came to my house every Friday and brought donuts. He sat with me and had coffee and we talked. We talked about all kinds of different topics. It felt strange to have conversation with him, but we were becoming friends. He continued to come for several months on what we called "donut fridays" and my boys started calling him "Grandpa donut".

One day, on his visit, he told me that he had pancreatic cancer. I could not believe what I was hearing. He said that it was pretty bad and not looking hopeful. Each Friday he continued to come, but started to bring me items he wanted me to have. This was NOT what I wanted. I didn't want his "stuff"! I wanted the dad I was beginning to know. The last time he came to visit, he told me that the chemo had made his cancer spread and they only gave six weeks to live. I couldn't believe again what I was hearing. He told me "if you cry I will not come back" that was a typical him comment.

My dad died six months after my son died. I finally had the dad I wanted my entire life and now he was gone too. His funeral was so hard for me. Nobody will understand. He had became my friend and I wasn't ready to let him go.

If I didn't lose Christian, my dad and I would have never been close. My dad would have died of cancer with me still being distant and angry with him. Sometimes things happen for a reason. I don't believe that Christian's fate was to bring my father and I together. But, if it didn't happen, I would have never had the time I had with my dad. We became friends and I loved the person he was at that moment. I miss him and I miss our conversations on donut fridays.

It will never happen again....

Several months had gone by and we had to try and cope with living without our son. I returned to work but I just wasn't able to get through the grief. There were many times I would call a grief counselor that the hospital provided me. I would cry to them... I would tell them that I couldn't do this, I couldn't live without him, the pain wasn't going away, I was missing him... I was falling apart at work and leaving early.

I decided that I needed to seek counseling. I needed help. I wanted to be on a medication that would make the pain go away. I was told that in order for me to see a psychologist, I had to have a referral. The referral had to come from Mr. Ob/gyn, since he was now my primary doctor. I didn't want to see him! I didn't like him at the time. To me his was mean and cold. I've since then realized, he was just doing his job. I guess there isn't an easy way to tell someone that their child was going to die. But when he made that comment about "getting it over with" that was too much! .

I made an appt to go see him to get my referral. I talked to him about my deep depression and how I wasn't coping at all with the loss. He referred me to a psychiatrist, for the medication, and a psychologist to talk to.

I was finally able to ask him what exactly happened to my son. What on earth caused his kidneys to shut down and why. It finally had a name...

Potters Syndrome

He said that for some reason the kidneys shut down, therefore the baby does not produce urine. Without urine (amniotic fluid) the baby cannot simulate "breathing" the fluid into the lungs which expands and forms the lungs. Therefore, the real cause of death in a potters baby is suffication.

He told me it's a "fluke". They do not know why it happens, there is no explanation and it is not genetic, but that it is extremely rare "one in a billion" and it would never happen again. He said "you can have a million more children and it will never happen again".

That was the last time I saw Mr. Ob/gyn.

I did go see Mr Psychiatrist and Psychologist. I was numbed with so many different medications... antidepressants, something to help me sleep, and 2 other meds I took during the day.  I don't know why I was on so much medication... I don't think I felt better... but I had become a walking zombie. It took my boss at work to call me into her office and tell me so. I stopped taking the med's and stopped seeing the doctors.

Arrangements

I didn't want a funeral. That is not something I was capable of getting through nor did I want to be around any people. I also did not want to bury my son. I didn't want him in the ground somewhere far away from me. I think it was my niece Angie or my sister Dottie who had mentioned cremation. I knew immediately, that was what I wanted. We went to the Chapel of Roses, set up those arrangements and chose an angel urn for him - that was extremely difficult. Do they really have to make the funeral home so stinking sad... like dark with sad music playing, such a somber place.

My baby boy

It had been a few days... and I wasn't expecting the moment when my husband and dad, Nick, drove up into the driveway. I had been sitting out on the porch steps and they walked up together. I could see in my husband's eyes that he had been crying and then gave me a look that told me what he had. He had been to the funeral home and had brought our son... home.

Suddenly, the thought of what remained of him in that angel urn hit me. Yet, another breakdown. I held it and cried but felt relief that he was home and I was able to hold him again. It comforted me that I was somehow close to him again.

An empty car ride home....

Leaving the hospital in a wheelchair with my arms empty. The second worst moment in this. Leaving without my baby. Without my living and healthy son. I had to leave him there, alone. I left with nothing, nothing but emptiness, a blue satin covered box, flowers and 4 polaroid pictures... one of me holding Christian and the other with Andy holding him. Thankfully, one of the nurses had a polaroid camera and captured these terrible pictures.

The blue satin covered box contained Christian's blanket, knit striped hat and two pieces of paper with his hand and foot print.

My son's entire life's belongings were in this box.

The stamped imprints of him have now faded.

The next few days were extremely difficult. The emptiness suffocated me. The ache for my son was overbearing. It is the most frustrating feeling for me. Being in a situation, where you have no control, not at all... to watch your son slip away and you can do nothing. I could not escape the pain. I felt like I was trapped in a box with the air being pure heartache and I could not get out.

Flowers started coming, they seemed to be ringing the doorbell once an hour. They came from family, friends and both of our co-workers. I know it was a way for them to show their support and sorrow for our loss. But, I hated them. I hated the flowers... I didn't want them in my house. I didn't want to see them. It felt like they were a screaming reminder of what had just happened. Everytime the doorbell rang, my mind slipped deeper into itself. At that moment, my spirit, my being, everything about me had found a place to hide, a place to go deep inside and block this all out.

I would cry myself to sleep holding the blanket that was wrapped around him. When I was asleep, there was no pain, no heartbreak, no ache to hold him, no thoughts of his face, no memory of watching him die. But when I awoke, I instantly could feel "that" grief penetrate every cell of my body like liquid fire. I felt sick and my heart hurt and ached more than I thought was even possible. Death is a part of life, I understand that.

Losing a parent, Grandmother/father, Aunt, yes it happens and it's very sad. But, losing a child is indescribable. Your child is an extension of your body, your heart, your spirit and your soul. When your child dies, so does every part of "you" that went with that child. Sadness, emptiness and sorrow takes it's place. 

There is no miracle pain reliever for grief.

The third worst moment was upon me. It was the second day without my son. I was laying in the bathtub that morning and my milk came in. Another big breakdown. My milk had come in for my baby and he wasn't here. My body didn't know that the baby it just spent 9 months caring for, feeding, nurturing didn't live once he was released. I was cheated those moments of feeding and bonding with my baby. If you've been there, you know what I mean. I'm not even going to try explain how much that hurt and the emotions a mother feels about that.

I remember a few times crawling into my bedroom closet. I was trying to hide, trying to hide and block out this pain I couldn't get away from. The sorrow was too much for me. I sat in there all alone and cried very, very hard, trying to empty my spirit of this pain. I was paralyzed... my mind was slipping into a dark place where numbness wrapped itself around me...

Depression was introducing itself to my life.

Depression... It came into my life that day and has remained a permanent resident in my soul.

To my Christian, the child in our hearts

O Precious, tiny, sweet little one

You will always be to me

So perfect, pure and innocent

Just as you were meant to be

We dreamed of you and of your life

And all that it would be

We waited and longed for you to come

and join our family

We never had the chance to play

To laugh, to rock or wiggle

We long to hold you, touch you now

And listen to you giggle

I'll always be your mommy

He'll always be your Dad

You'll always be our child

The child that we had

But now you're gone... but yet you're here

We sense you everywhere

You are our sorrow and our joy

There's love in every tear

Just know our love goes deep and strong

We'll forget you never

The child we had, but never had

And yet will have forever

All our Love,
Mommy, Daddy, Brianna, Drew and Josh

Potters Syndrome

Hello. My name is Valerie. I am starting this blog to document my experiences in losing two children to Potters Syndrome. I'm hoping to reach someone out there who has also lost a child to this, or has unfortunately just learned that their baby has Potters. I couldn't do group counseling... I was never ready and didn't think I could sit and tell my story without crying. Here is a place where I can talk and would love to meet other parents and hear about your Glory Babies, too.

This is my story. The day my life changed... the day my spirit went dark, saddened and was shattered forever.

My husband and I have six beautiful children, ages ranging from almost 3 to 24. Two of those children, our son Christian Daniel and our daughter Grace, died shortly after birth to Potters.

Christian is my fourth child, my 3rd son. He was born on March 10, 1998. I was in my 8th month of pregnancy. My Ob/gyn had delivered my 2 prior children and was in the process of retiring. He had given me the name of another Ob/gyn who was taking over his patients. My next visit was with this new doctor, to meet him, go over my history, etc. as I would be delivering soon.

I remember this day so vividly. He walked in to my room, shook my hand and asked "how far along are you?" I told him that I was due in just a few weeks. He shook his head.... he knew right away something was wrong.

Dr. Emerson, my previous doctor never caught it. My tummy was very small and each time I saw Dr. Emerson he pushed my due date back thinking I must not be as far along as he thought. He did ultrasounds... never caught the fact that I didn't have amniotic fluid. Was he in a hurry to retire? Did he never see the signs? I'm not sure. Not that it mattered because the outcome would have been the same.

My new doctor, after shaking his head in doubt, told me he wanted to do an ultrasound right now. I wasn't thinking anything about it... I had 3 healthy babies. Death or anything wrong with my son never entered my thoughts. I didn't know anybody who had lost a baby, other than to a miscarriage. No one ever in my family that I am aware of ever lost a baby.....

The doctor took me to the next room and started the ultrasound. He was quiet for about 10 minutes, just looking and looking. I sat there unknowing, watching my little baby move about and thinking about how anxious I was about holding him soon. He broke the silence.... "You don't have amniotic fluid"... I didn't understand. He said "Your son does not have kidneys". Then "those" words I will never forget... "Your son is not going to live".

I was in shock. I couldn't process what he was telling me. I remember thinking, what a jerk!" What a horrible man to be saying something like this to me. He left me in the room for a little while. When I was able to come out, he was flipping through a big technical doctor book to show me the word "Renal something" that's all I remember at that time. I started to cry and sat down. I still couldn't mentally grasp what had just happened. I'm expecting a new little boy... I go to a new doctor, I have no amniotic fluid, my son is missing this and that, he's not going to live, renal something or other... my head was spinning.

The doctor called Stanford University and scheduled an appt for a higher resolution ultrasound and an appt with the NeoNatal doctors there. My doctor knew what it was, but wanted Stanford to confirm it.

Our appointment at Stanford was scheduled the following day. I was hoping and praying my doctor was wrong, he had to be, this just didn't make sense to me. Unfortunately, we were told the same thing. We sat in the office with the Neo Specialist and were told that our baby boy did not have kidneys and his bladder had also shut down. Then he explained that Christian did not have lungs, that they could not develop due to the lack of fluid. I pleaded with them to do SOMETHING... kidney transplant, lung development machine, something. We were told that no baby has ever survived Potters, they've tried. But, if we wanted to try, they would do everything possible.

When I got home that evening, my new Ob called because he had received the results from Stanford. He said, "It was what I expected... why don't you come in, we'll induce the pregnancy and get it over with since he is going to die anyway". The second worst words I've ever heard in my life. I looked at my husband in disbelief of the words that just penatrated my soul and I dropped the phone to the floor. I wasn't going to induce and then say goodbye! I wanted him to continue to live inside me where he was safe and alive, kicking and hicupping away.

The next few days are a blur. I was in shock and was trying to fathom how to say goodbye to my son. I'm not sure how soon it was after that dr. appt that I went into labor but I think it was within a week.

I came down with the stomach flu. After half the night of throwing up, I started having contractions. They were so strong we went to the hospital and my new ob/gyn was called. I didn't want to be there and I didn't want the new doctor to deliver my son.  I begged to be flown to Stanford. They tried, but I was too far along and there was concern I would deliver in the helicopter. The wonderful staff from Stanford came to my hospital to deliver Christian.

My son entered this world crying. This gave all the doctors a glimmer of hope.... maybe there was enough lung development to work with a machine. After I heard his cry, a team of doctors swooped him up and away he went.

I was cared for and laid there wondering about my baby, afraid to know. The Stanford Doctor came in and told me that after looking at Xrays of his chest, there was nothing there. The lungs had not developed enough. The hopes of putting him on a development machine was not going to happen. She told me she would wheel me in so I could say goodbye.

I couldn't, I just cried. I couldn't go in there and say goodbye... HOW DOES A PERSON DO THAT!!  I remember being so afraid to see him and to see his face and have it hurt as much as I knew it would. She left to help with him again and returned a few minutes later. She was a very nice woman. I'll never forget her face and her loving soft voice she used to talk to me. She asked me again to please come see him. I just cried and told her how scared I was. She said "I know, but I want you to hold your baby while he is warm". 

They put me in a wheelchair... I remember going into the room and seeing my mom and sister. Tears and anguish covered their faces, machines and tubes were everywhere. My husband was sitting, crying, holding our baby boy. My son Christian, my baby was placed in my arms... and he looked up at me. His eyes staring into mine, blinking.

He had the sweetest little face. Just a beautiful, perfect tiny baby boy. Looking at him, you wouldn't think there was anything wrong. But inside, two major organs were absent and preventing him from staying with us. I will never forget his eyes...

I stared at him, felt his little body, looked at each of his fingers and toes. The doctors continued to check his heartbeat... his little blinks got longer and longer, until he didn't open them again. They removed the oxygen tubes and monitors and just let us hold him. They continued to listen to his heartbeat until, the last time they looked down and put their hands on our shoulders, we knew. He passed away in my arms.

Christian lived almost 2 hours. He weighed 5lbs-6oz and was 19 inches long.

He spent his life in his daddy's, aunt dottie's, grandma's and his mommy's arms. He was loved immensely and I know he felt it.