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.

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