Thanatophoric Dwarfism: A Child, A Diagnosis and A Smile

Have you ever watched “Little People, Big World” or “The Little Couple”? The popularity of these programs demonstrates the public’s fascination with dwarfism. This rings true when I go out in public with my son, Samuel. People frequently ask about his diagnosis.

Dwarfism is defined as a person who has an adult height of 4 feet 10 inches or shorter. There are an estimated 200 types of dwarfism. Most people are aware of this condition, but know little else, giving rise to the curiosity.

Not Your Fault

Samuel’s dwarfism is not inherited but rather the fate of a random genetic mutation. His condition was through no fault of my own. Drinking soy milk while I was pregnant didn’t cause it. Falling heavily and landing on my knees didn’t cause it. And, I’d venture to say that my advanced maternal age (or my husband’s age) didn’t cause it, although some theories on the Internet state otherwise.

Having one of the six surviving children with Thanatophoric Dwarfism (TD), I receive messages from people worldwide. One dear lady whose child had TD believed for months it was her fault. My heart broke for her. She experienced great relief when I shared the truth with her.

Thanatophoric Dwarfism Defined

Thanatophoric Dysplasia Dwarfism is categorized as of a lethal form of dwarfism and is generally considered not compatible with life. This diagnosis was discovered in 1967 by Pierre Maroteaux and his coworkers who used the Greek term “thanatophoric” meaning death-bringing. (MedicineNet.com) At nine years old, my son’s young life has already defied the odds. He is my little miracle Mann.

Characteristics: Samuel’s rib cage is so small it fits in the palm of my hand. He is twenty-five inches long and weighs twenty two pounds. His short arms and legs, portly belly and trident hands are as soft as a baby’s skin. His flat button nose is utterly kissable.

Hand in Hand
Hand in Hand

 

Prognosis

The primary concern at birth was his inability to breathe.  And though he needed a ventilator, we were blessed to bring him home after six months. Several years later, to my great surprise, he no longer needs a ventilator to breathe.

My son’s life expectancy is a bit of a mystery which I believe is determined more by the miracle of his life rather than by what a textbook states. I’ve had the blessing of meeting other TD families who have blazed a path to hang my hopes on.  The oldest survivor I know lived to be twenty six years old. Will my son exceed this threshold? My momma’s heart says yes. But only God knows.

Conclusion

As we meet people and are peppered with questions, how do I respond? I can offer statistics like the occurrence of TD being 1 in 20,000 to 50,000 newborns or throw around Greek words and definitions but I’d say the answer is in his smile. “Here I am”, his smile suggests. “Watch me thrive.”                                               (See video below.)

Smiling Samuel
Smiling Samuel
CIMG_1182
Waving Samuel

Click Below to view video of Samuel laughing playing with blocks.

IMG_2243[1]

 

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15 Thoughts on Thanatophoric Dwarfism: A Child, A Diagnosis and A Smile

  1. Hi my nephew was born on 5/11/15 he was diagnosed with TD, we had a meeting today with doctor n they said his lungs are to small and that his case is very rare and don’t know what his genetic results are yet but as far as his X-rays they are positive for TD I’m trying to be strong for my sister but it’s just so hard and I don’t know what to do should she give up hope or should she continue and pray for the best! Please some advice would help! Thank You in advance!

    Reply
    • Hi Maria, Thank you for writing. Please tell your sister, I understand and have been given the same news when my son was born. I would be happy to share our experience with you and your sister. I will send you a personal message by email. Blessings, Evelyn

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  2. Love! Hugs to you Evelyn!

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    • Thank you, Celine. I trust you and your family are well. Blessings to you, Evelyn

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  3. At 13 weeks, we were told that our baby has Thanatophoric Dysplasia. Upon seeing specialists, getting a second and third and fourth opinion, they have all confirmed that our baby will not survive. We are currently 17 weeks, opted to do the amniocentesis. My husband and I have not come to an agreement on what we want to do. It’s been very heartbreaking. I come from a Christian family and a huge part of me want to have hope. But now, learning more and more about this horrible disorder, that part of me suddenly feels selfish. I am completely lost. My husband does not want our child to suffer and suggest that we terminate our pregnancy. I’m praying for guidance and support.

    Reply
    • I didn’t find out until I was 20 weeks pregnant. I know the textbooks state this is not survivable but miracles do happen and my son is ten years old. We encountered the “suffer” issue as well; however, though my son did need a vent to breathe, I don’t think he suffered. He does not remember those times in the hospital after he was born. He is a happy full of joy little boy. I’d love to talk to you both. Your husband can talk to my husband. We have been there, we have travelled the road you are on and would be blessed to help you anyway we can. Write me at evelyn@miraclemann.com and we can swap phone information. Just know you are not alone. Much love and hugs, Evelyn

      Reply
  4. We were just informed at my 22 week scan on 9/9/15, that my daughter has this. Im heart broken. I wouldnt care if she was mentaly dissabled, or had dwarfism, but it kills me to know there is a good probability she wont make it long after birth. We are waiting for the amnio to come back, we have decided to go threw the rest of our pregnancy, i cant even think about terminating her life early. She will be here in january 2016. We are prepared for the worst, but as long as she has a good strong heartbeat and she is still moving around, i will not give up on her. I sometimes think its selfish, but i want to do everything in my power to help her live the longest life possible. Im sorry this is so long.

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  5. We lost our son last 9/14/15 and he was just 7months or 30 weeks. During his 5th month, My wife’s ob-gyn informed us that our child has dwarfism, we were so shocked and I was asking my self what causes his condition, but instead of crying, my wife and I accepted the fact that God chose us to be his parents because He believes that we are the right one for our son. The doctor also told us that he is very likely to survive and that he is very fit for survival. But to our surprise when he was born he has TD, and he only lived for 2 hours. It was so heart breaking because we waited 5 long years to have a baby, but he went home to heaven too soon. My wife and I were both having a hard time to accept our lost. And I am grateful to read your son’s story Evelyn, it lightens the burden in my heart. His smile makes me imagine our son’s smile and that he is already happy in heaven watching over us. May God bless your son with many more years in his life, and may God also bless you with more strength. Thank you so much.

    Reply
    • Reggie, Thank you for sharing your son’s journey. My heart goes out to you both and so thankful that our son’s smile touched you.

      Hugs & Blessings, Evelyn

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  6. My nephew was born 8/29/15 at 31 weeks. His parents knew he had a type of dwarfism beforehand, but of course, had to wait for the test results. The doctor noticed one day last week that little Cameron was having a hard time breathing and mentioned that he was concerned not only about the breathing but especially about the size of his upper arms.He then said that if the test came back positive, it wasn’t a good sign and chances of survival are slim. Well, yesterday we received the heartbreaking news that Cameron does have Thanatophoric dwarfism. We are all devastated, not knowing if he’s going to be with us for a few more days, months, or maybe possibly years.I bust into tears everytime someone asks me about Cameron, as I don’t know what to say.

    Reply
  7. My nephew was born 8/29/15 at 31 weeks. His parents knew he had a type of dwarfism beforehand, but of course, had to wait for the test results. The doctor noticed one day last week that little Cameron was having a hard time breathing and mentioned that he was concerned not only about the breathing but especially about the size of his upper arms.He then said that if the test came back positive, it wasn’t a good sign and chances of survival are slim. Well, yesterday we received the heartbreaking news that Cameron does have Thanatophoric dwarfism. We are all devastated, not knowing if he’s going to be with us for a few more days, months, or maybe possibly years. I bust into tears everytime someone asks me about Cameron, as I don’t know what to say.

    Reply
  8. Hi! My name is Tina and in1997 my son matthew passed away 8 hours after his birth. The Dr only gave him 30minutes at most but sweet Jesus gave me longer!! You are truly blessed, miracles do happen 🙂 God Blesd

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  9. I just wanted to offer my prayers for your son and family, as well as other families with children with TD. I think you are very strong and it is a blessing that you share your story. My daughter has a different form of dwarfism called Dystrophic Dysplasia. She is a blessing to us but we have had medical issues to address. Best wishes to Samuel for continued health.

    Reply
    • Thank you for your kind words and encouragement. I know you face similar struggles. I have learned to appreciate the good days and pray like crazy through the not so good days. God has given us grace through it all and I am thankful. Blessings to you and your family as you navigate the special needs life realizing, all the while, that your daughter is precious and a blessing. Big Hugs to you all. Evelyn

      Reply

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