our son had Pena-Shokeir syndrome {surviving infant loss}

Learning that our son had Pena-Shokeir syndrome when he was born.

Laughton was born at 8:30 pm and just two short hours later, I was forced to begin the grieving process.  They let us take him back to the room with us and even though I was still pretty loopy from the aftermath of my own surgery, I didn’t want to sleep knowing how little time I had with him to say goodbye.  Through blurred senses I tried as best I could to memorize every feature.

By morning, after a dreadful night and very little sleep, we were being asked whether or not we wanted an autopsy performed.  In that moment, my initial reaction was that there wasn’t a chance I wanted it done.  The thought of what would happen to my son during the process was too much on top of what I was already trying to cope with.

However, after talking it over for a few minutes with Graham and the doctors, we did ultimately decide it would be beneficial to have an autopsy completed.  I had to quickly realize it may be the only way we were going to get any answers.

It turns out the results of the autopsy are not only providing us with some closure, but we are also being provided with answers that we absolutely needed in planning for our future.

They found that our son had a very rare syndrome called “Pena-Shokeir”.  It is estimated to happen in only about 1 out of every 15,000 births.  Because of how infrequently it does happen, though, there is very little data and the medical world is still trying to figure it out.

But essentially, this syndrome was the cause for his arthrogryposis, the polyhydramnios {excessive amniotic fluid}, the early term membrane rupture, and his hypoplastic lungs.  The hypoplastic {underdeveloped} lungs were ultimately what was noted as the cause of death.  At his gestational age, the lungs should have weighed about 22 grams {roughly the same as 22 paperclips}.  When Laughton was born, his lungs were only 2 grams in weight.  Having Pena-Shokeir prevented his lungs from growing as they should have.

Even though this syndrome is extremely rare, what they do know is that babies born with it do not survive, if they even make it to birth.  Therefore, we were very lucky in the fact that we did have a couple of hours with Laughton.

Pena-Shokeir is very similar to Trisomy 18 in the way that it presents.  However, at this time, there is no way to test {parents} for genetic flaws that can lead to Pena-Shokeir like there is with Trisomy 18.

That is why the best estimation Graham and I were given was that it was a 50% chance the syndrome was passed on genetically and a 50% chance that it was “unlucky circumstances” Laughton had this.  Basically, because they do not know how to test our genetics to see whether or not we are both recessive carriers of some genetic flaw, and because there is such little data for them to study, the 50/50 scenario is the least biased one they could give us.

What I did hear, however, was that there is a pretty good chance all of this happened {losing Laughton and all of my miscarriages} because of a rare genetic flaw that both Graham and I may carry.

In the end, we will not be taking the chance of having this happen to another child ever again.  If this syndrome really does occur because of a genetic flaw, since we now have had a child with the syndrome, we would have a 25% chance of it happening again {where we both pass on the recessive version, versus one or two dominant versions, of whichever chromosome relates to this syndrome}.

God really did have adoption as a part of the plan for us to grow our family.

Was requesting an autopsy hard?  Absolutely.  But, it has turned out to have provided us with a {somewhat} better understanding of the past half-a-decade of our lives.

And I am not sad that we will never have another child naturally.  Graham and I {more than anything else} have always just wanted to share our love with children, to be parents, and it does not matter whether our children grew in my belly or in our hearts.

I am heartbroken, though, at the fact that we put Laughton through this even though we had no idea and would have never chosen this path for him.  I would give anything to have him back, but I know he is watching over us.  Right now he is helping God choose his little brother or sister for us to love just as much as we love him.

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  1. Aunt Dorothy says:

    Wonderfully written, Jennifer. I am so excited for the time when you & Graham become parents! Such a lucky baby ….

  2. matthew says:

    My sister just delivered Theodore, who just happens to have gotten the diagnosis of Pena Shokeir. It was a total shock. He has been in the NICU for 2 weeks, but the likelyhood of him surviving another 2 is unlikely. Thank you for sharing your story. It helps.

  3. Another Jen says:

    This story is almost exactly what happened to our son Liam in 2012. We did find a clinic online that tests for 5 possible genes that cause pena shokier….prevention genetics. Our results came back negative but still doesn’t guarantee that we dont carry a gene that causes it. We did take a chance and had another little boy 14 months later. Best of luck!!! I know exactly what you are going through:(

  4. Barb Tousley says:

    Hello. Your story was heartbreaking. We had a daughter, Mary, born in 1985 with Pena Shokeir Type 2 syndrome. She was a joy to us, despite her severe disabilities. She lived to be nearly 25 years old, and passed in 2009. Sometimes I think she may be the longest survivor of this syndrome. I am on Facebook, and have a video there of our Mary’s life. You may pm me to see it. God bless you in your life!

  5. Julie says:

    I just stumbled on your story while researching for my SIL. Your story and mine/ours is almost exactly the same. We had a baby boy who passed at 27 weeks when my water broke to Pena shokeir I. We, too, didn’t want to risk it again so we went on to adopt two healthy kiddos. So sorry for your loss and happy to see you found a way!

  6. Sarah says:

    I lost my baby 25th July 2015 at 21+2 gestation he was my 3rd pregnacy we opted for a medical termination after my 20 week scan revealed my son had my major life threatening issues, they are certain he couldn’t survive and that life support may not of been an option due to his condition preventing then for doing so, it was unknown till a few weeks ago what the condition was they belive he had a very sever form of Pena shorkier, I already have a health little boy aged 18 months he was my second pregnacy the first was a miscarriage at 5 +4 unknown reason, we would love to have another baby but there is a 25% chance of it happening again, I would like to speak to anyone who has been though Pena shorkier to gain understanding and share vital information, it’s my hope one day we will have the answers to the unknown fly high Pena shorkier Angels xxx

  7. Katie says:

    Jen and Graham,

    I think of you all and Laughton often. I’m glad you’ve received some kind of closure. For some reason having a why helps us to complete the puzzle and move forward. Knowing that McKenna had wrapped the cord around her neck helped Jon and I move forward.

    I’m also very glad to hear the adoption process is moving forward because there is no child who will ever be loved more than yours. We’ll keep you and future baby C in our thoughts and prayers.

  8. Valerie says:

    I lost a son to Pena -Shokeir type 2. He would have turned 14 on the 17th of this month. We had no indication through any prenatal testing that there were any annomalies. He lived for 16 days. That time was such a blessing and caused such tremendous pain. Our geneticist chalked it up to “bad luck”. I did go on to have a healthy daughter a little over a year later.

  9. Lindsay says:

    My son also passed away from Pena Shokeir. It is really a terrible thing to see an infant go through. My boy lived for a month and two days. Those little rocker bottom feet of his surely left an impression on my heart forever. My heart goes out to you…

  10. Amanda says:

    Not sure if this still gets read. I just lost my son 3 weeks ago. He was one week old. We had no indications anything was wrong until 34 weeks along they did an ultrasound to investigate high fluid and that’s when they saw possible club feet, clenched hands and small chin but still no diagnosis. The outcome was far worse than we ever could have imagined- geneticists say they are 95% sure it’s Pena Shokeir but tests are being done. I am praying for answers. We already have a healthy 2 year old daughter and would really like to have another but obviously don’t want to risk this happening again. Hoping they are able to give us something definite that we can test for. Sorry for your loss, it’s nice that I’m not alone but it pains me knowing other people went through this. My little boy’s name was Cooper. I’ll think of him everyday forever. Would be great to hear from anyone who has been through this diagnosis. Thanks for sharing your story.

  11. Kate says:

    I am currently awaiting the results of an Amniocentesis. The results for Trisomy 13, 18 and 21 have come back as negative. The doctors were 80% sure it was Trisomy 18 (clenched hands, small in size, Rockerbottom feet etc) I am 6 months and the baby is not moving at all. She is in the same position at every scan. I am convinced after researching her symptoms and reading your stories, that she has Pena-Shokeir Syndrome. And I am really worried as my partner and I are in a consanguine relationship, we have two beautiful healthy toddlers already and this is our 3rd pregnancy. We researched genetic issues prior to our 1st child but never came across this syndrome. Are any of the other cases here in a similar situation.

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