Tag Archive | thanatophoric dwarfism

Reality Check

Back Camera

The soothing aroma of cinnamon rises from my glass tea cup as I look outside. It’s mid-morning on a sunny Florida day. A few wispy clouds linger on the bright blue horizon as a soft breeze touches the tree limbs in a sweet caress.  The coffee shop offers a cold taupe granite countertop which holds my laptop.

As I string words together for my memoir, I enjoy soft piano music playing in my ear. Over the soft melody, I hear a baby babbling in a stroller behind me. I smile. I attempt to focus on the computer screen. The baby continues to coo. Then I realize, Samuel makes these same sounds.

I turn around see two ladies sitting at the table with a stroller to the side. A woman with blonde hair holds the baby in her arms.

“How old is your baby?”

The other woman answers, “She’s eighteen months.”

“She making sounds like my son.”

“Oh, how old is your son?”

I hesitate to answer. In the many times I have been asked this question, I face the same dilemma. My son doesn’t look like his age. In this case, how do I explain an eight year old who is still in the cooing stage. Sometimes, I’m tempted to say he is 8. Perhaps they’ll think he’s 8 months, not 8 years old.

“My son is eight years old. He has a rare form of dwarfism called Thanatophoric Dysplasia.”

The woman holding the baby chimes in. “Oh, how interesting.”

I smile. “He’s eighteen pounds and twenty-four inches long.”

The mother looks at her daughter. “That’s how much Brianna weighs.”

I look at her daughter who’s legs and arms are much longer than Samuel. Mental note: my son is smaller than an eighteen month old. I don’t dwell on Samuel’s size in comparison to other children but it’s in moments like these I can’t escape the fact.

We chat for a few more moments and then say our goodbye’s. The café is quiet now with only a few people left enjoying a solitary cup of brew. I pack my laptop, sling my purse strap over my shoulder and walk to my car. It’s not until later when I reflect on the encounter noting my journey is a unique one. Though different, I understand my son is just another version of normal. What my husband calls “God’s Alternate Construction.”

 

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Hope Lives Here

To Families Facing A Diagnosis of Thanatophoric Dwarfism:

My heart’s desire is to come along side families who are given no hope. My son was not expected to live past birth; however, he lived. Six months in the hospital and five and a half years later he still lives.

It breaks my heart to see other families going through this…are they given all the options? Are they told ALL these children die…no exceptions? Are they told the diagnosis these children have is not compatible with life. Are they given no hope? I certainly was when I was pregnant with our son. I heard of a few survivors but none living past seven years of age.

Was I told that there is a child with TD that is now 25 years old! No. Was I told about another child with TD who lived to be 20 years old? No. This is what I was told:

“Do you want to take your child home?” the doctor asked.

“Yes”, we answered.

“O.K., he will need tracheostomy surgery and a g-tube put in his stomach. Then you can take him home.” the doctor replied.

We said, “O.K., let’s do it!”

We knew that they had no hope for our son. We knew they thought he was going to die.

Are parents facing the same situation (a diagnosis of TD) told about our son? There are two other families I am in contact with whose children are survivors of TD. These children can survive but how will the parents know unless someone tells them. We are willing to share our son’s story so that they will know.

You can go to Samuel’s website at www.caringbridge.org/visit/samuelmann to read my journal these last several years but what is most inspiring is to see our son’s smile in the pictures posted there.

With hope,

Evelyn Mann (Samuel’s Mommy)