Tag Archive | 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.”



Samuel’s Diagnosis

In the process of posting on Samuel’s website and creating our hopeseed blog, I realized that I have not clearly stated what Samuel’s diagnosis is or what challenges he encounters because of this diagnosis. Let me briefly take you back to my 22nd week of pregnancy.
We had a high level sonogram completed to find out if our son indeed had a problem. The doctor and geneticist were very apologetic that they had to give us news that any parent does not want to hear. They suspected Samuel could have one of three diagnoses and all of them were not compatible with life. After we left, a strange thing happened. As we were leaving the doctor’s office, Ralph & I looked at each other and we both felt a complete sense of peace come over us. As we went home that evening, we clung to the gift of peace and took each day as it came.
We never had an amniocentesis completed. We were not completely sure of the diagnosis until a couple of weeks after Samuel was born. Then it was confirmed, Samuel had Thanatophoric Dwarfism Dysplasia.
We were told early on not to do any research on the internet about his diagnosis. Wanting to know all I could, I promptly ignored this advice and conducted my search. It did not take me long to realize why we were told not to look on the internet. The news was grim…the prognosis was not hopeful. There were no clear cases of survival. At the hospital we were told of two cases in Japan but nothing that I could confirm on the internet.
Yet, Samuel kept living. He was in the NICU for six weeks where he received a tracheostomy and a gastrointestinal tube. Then he was transferred to the PICU. To our delight and extreme joy, we brought Samuel home when he was six months old. He is now six years old and one of the highlights of our life.
Thanatophoric Dwarfism Dysplasia is a rare form of dwarfism. Thanatophoric is a Greek word meaning “death bringing”. Once his diagnosis was confirmed with genetic testing, it was difficult to find optimism in Samuel’s prognosis. However, the patient kept living. I could post the technical definition of Samuel’s diagnosis but I prefer to use layman’s terms. It is how I would explain the diagnosis to you if you were sitting right next to me enjoying a cup of tea. Samuel’s ribs are hard and fixed. When we breathe, our ribs move in and out as we inhale and exhale. Samuel’s ribs don’t move because they are hard and fixed in place. His lungs move downward into his stomach area. This is why we have always been cautious of overfeeding Samuel so as to not interfere with his breathing.
We did receive one piece of good news. Samuel has a bump on his head which is covered by his hair. This bump is caused by fluid on the brain; otherwise known as Hydrocephalus. We found out; however, that he does not have a progressive type where the water keeps building and needs to be relieved. Just to note that progressive Hydrocephalus can be managed and treated. Many children have this challenge and live productive lives. For us, it was a blessing that it was one less challenge we had to face.
Samuel also has dwarfism. At one doctor’s appointment the nurses were trying to find how to plot Samuel on the growth chart. After some discussion, they agreed that he was off the chart, literally! Though he is six years old, he wearing clothes made for an 18 month old child.
He also has dysplasia in his legs. One leg is a little “bowed” out from the other leg. Samuel is not walking at this point so we won’t address this issue until he gets older. We are blessed to have a Shriner’s hospital not far from where we live to address these concerns as they come up.
Samuel also needs a ventilator to breathe. He was on a highly intensive machine in the hospital called an oscillator ventilator. He was on morphine in order to tolerate the up to 200 breaths per minute being pumped into his body. One nurse even told me that he would never get off this machine, but he did. Then he was placed on an amazing machine called the Servo-i. One respiratory therapist told us the machine could ventilate a frog. Samuel didn’t have to do any work to breathe, the machine did it for him. The drawback was that we could not take this extremely sophisticated technology to our house. After months of trials, Samuel was able to tolerate a home ventilator which he still uses today.
We have to be very careful that Samuel does not get sick due to this lung deficiency. We have a “wash hands rule” in our home that has served us well. He does not go to school but he has amazing teachers from the Hospital Homebound program in our county that is working to help him develop. One day, I am hoping there will be technology that will help Samuel communicate with us. Right now, he does a fine job of letting us know what he does want and doesn’t want.
Overall, Samuel is a most contented child. We are so blessed by his sunny disposition and joyful spirit. Though he has hoses and a machine attached to him, what family and friends see is just Samuel. The hoses seem to vanish into the background and all you see is a brilliant smile that takes your breath away. In many ways he is like other children. He loves balloons, will watch Elmo all day if you let him and he adores being the center of attention.
What I cherish is how our sweet spirited child inspires others. I received a post on Samuel’s website that I would like to quote here to impress this point:
Hi, I’m a current DMS (Ultrasound) Student. My assignment was Thanatophoric Dwarfism. The teacher was reading the 3rd trimester anomalies as I highlighted them I was saying to myself, don’t want to know about it, not interested, don’t care, depressing. Been avoiding to research because is consider a fatal anomalies. But when I come across Samuel Mann, my attitude change, it got me interested. Survival, God’s blessing. It changed my life. My presentation will be on Samuel Amazing life Story. God Bless you Angel Samuel. Madea Cielo
My hope and desire is that Samuel continues to inspire. He is an example that miracles really do happen. There is indeed, a miracle in my living room.

A Miracle in My Living Room

A Miracle in Our Living Room

A miracle is defined in the Miriam-Webster dictionary as being an “extraordinary event manifesting divine intervention in human affairs”.  This definition resonates with me as I look on the last half decade of my life.

It was not a miracle that I met my husband, though I prayed for a wonderful man to come into my life. Our meeting was brought together by a website called Christian Café.com. My husband proposed to me two and a half years to the day from our first meeting. Six weeks later we were married in our church before friends and family. It was a glorious day.

Six months later we were delighted by the news that we were expecting. We bought little booties and gave them to both sets of parents as a way of announcing our bundle of joy. We lived in expectation of the birth of our first child.

The day of our first sonogram had arrived. We were excited to learn if the baby was a “he” or a “she”.  We received wonderful news revealing our child to be a “he”. However, the doctor also shared an area of concern. Our son’s arms and legs were substantially shorter than that of a pregnant woman in her 20th week of gestation.  I wanted to rejoice in the news of our child’s gender but instead I was grappling with this concerning news. At first, I thought, the doctor is wrong. Our child would “catch up” and grow to be within normal range.

We sought another opinion and to our surprise the news was dire.  We were told our son’s diagnosis was potentially “not compatible with life”. Further testing was recommended to include an amniocentesis.  Despite facing such a negative prognosis, we both felt a “peace that passes all understanding”.  That peace carried us through to the day of our son’s birth in August of 2005.

We did not hear a loud cry from our son as he made his entrance into the world. He was whisked away to the Neo-Natal Intensive Care Unit where he was intubated and placed on a highly specialized ventilator. We were told he would not survive birth. The first miracle; he lived.  Indeed, the patient kept living. In those first six weeks of his young life, our son, Samuel, had a tracheostomy and a gastrointestinal tube placed. We were told to count our son’s days in terms of months, not years. Each month of life was celebrated like a birthday. He was transferred to the Pediatric Intensive Care Unit where he celebrated his first Christmas surrounded by family, friends, doctors and nurses.  He was a miracle at four and a half months old.

As the New Year approached we were encouraged by Samuel’s lungs getting stronger. Through a series of ventilator trials he was slowly being weaned off the hospital grade ventilator to a ventilator made for home use. It was an arduous process. Two steps forward, one step back. Then it happened, he was breathing on the home ventilator.  By February, he was being transported by an ambulance to our home and 24 hour nursing care. August arrived and we celebrated the day we were told not to expect, Samuel’s first birthday.  We asked guests to bring balloons to this momentous event.  And so they did.  The house was full of bright and beautiful balloons of all shapes and colors. The house was also full of hope.

Today our son is eight years old. He is full of exuberance and joy with a hint of mischief. We believe God divinely intervened in our son’s life. Just in the last year, we were amazed to have Samuel weaned off the ventilator.

I’m blessed to have a real life miracle in my living room.

Answered Prayers

“To what do you attribute your son’s survival?”
“The only way I can explain it is God.” I answered.
Any parent facing a similar situation would do anything for their child to survive. If there was a button I could have pressed that would make everything better, I would have pressed it. Doctors could not heal our son. There was no drug to cure his diagnosis. A ventilator was used to help him breath but there was no quick fix to wean him off the machine.
One day his oxygen level dropped fourteen times. We were being told his lungs just weren’t able to keep up. The situation seemed dire. I excused myself from the Neo-Natal Intensive Care unit and went into the hallway. I made one call to activate the prayer chain at church. Shortly after my call, a new respiratory therapist came to Samuel’s crib. She suctioned him. Nothing. She tried again when “something” broke loose. There was a mucus plug blocking the tube in Samuel’s throat which helped him to breathe. Soon after, his oxygen level rose to an acceptable level. The crisis was over. I thanked God.
I pray over Samuel every morning and every night to this day. It doesn’t mean each day is going to go perfectly but I am comforted in knowing that God hears our prayers. A dear friend gave me a verse when Samuel was in the hospital. “He gently leads those who have young.” Isaiah 40:11. I treasure that passage.
Two years ago, Samuel passed out when he was receiving therapy. An ambulance was called while my husband and I worked to clear his airway. I quickly prayed, “Dear Lord, help us”. I was holding my breath while I was waiting to see my son breathe. On our second attempt, Samuel started to cry. At least he was breathing, Praise God. The ambulance transported us to the hospital. The doctor determined that Samuel wasn’t breathing correctly. She decided to put Albuterol directly down his tracheostomy tube. It was a risk, but it worked. Thankfully, we were able to take our son home that night. He had no ill effects from the episode.
I love our son dearly. I know his times are in God’s hands. I cherish every moment. With each smile, my world stands still and explodes with joy. And so, I continue to pray.

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)