National Dwarfism Awareness Month
Samuel Mann has Thanatophoric Dwarfism which is one of 200 forms of dwarfism. His diagnosis is considered not-compatible-with-life; however, this little man is now 14-years-old and has defied the odds.
I receive inquiries from parents all over the United States and throughout the world. Because doctors are not aware of the many survivors of this diagnosis, my hope is to share our journey to help these precious families with theirs.
Two Questions Changed Our World
Early in my pregnancy, we discovered Samuel had delayed growth. We met with a genetic counselor to discuss potential diagnoses. Because of the risk of an amniocenteses, we refused testing. Thirty-one weeks into my pregnancy, we met with the neonatologist who would be treating Samuel at birth.
I’ll never forget when he asked, “Do you want all measures taken to help your son?”
We responded with a resounding, “Yes.”
That conversation would set the course for Samuel’s treatment.
When Samuel came into the world, he needed help to breathe. For him, that meant ventilator assistance. Some TD children require a CPAP, a nose cannula, or, as in Samuel’s case, a ventilator. Without this extra help at birth, he would not have lived. I could not imagine my little guy not being able to breathe, so the intervention he received was a God-send.
Another memorable moment is when the neonatologist asked, “Do you want to take your son home?”
We answered right away, “Absolutely.”
He nodded and replied, “Then he will need a tracheostomy and a g-tube.”
We agreed, understanding the doctors were not sure he would survive, but they were willing to help us bring him home.
Samuel’s tracheostomy surgery happened when he was two-weeks old. The gastrostomy tube placement happened at six-weeks old.
Then next four and half months, Samuel had a series of ventilator trials to take him off the hospital-grade ventilator onto the home ventilator. During that time, Samuel would spend time on the Servo-I hospital vent and the home ventilator, LTV950. We also discovered a specialized trach which made him much more comfortable breathing.
At six months old, our miracle boy came home. Overtime, Samuel improved. I’ll never forget a meeting with his pulmonologist when he stood up and said, “He’s stable.”
Eventually, Samuel would become stable enough to come off the ventilator.
Here is a timeline of events sharing our story, one bullet point at a time.
- Week 20 – Discovered Samuel was growing slowly. Referred to a high-level sonogram for possible diagnosis.
- Week 22- Genetic Counselor suggested Samuel could have 1 of 3 diagnoses. Refused amniocenteses.
- Week 30 – Placed on bedrest due to excess amniotic fluid.
- Week 31- Met with Neonatologist to discuss treatment options for Samuel at birth.
- Week 31 – Possible dehydration caused false contractions. Admited to the hospital due to leaking amniotic fluid.
- Week 35 – Samuel was born via C-section. Admitted to the Neo-Natal Intensive Care Unit.
- Week 1 – A specialized ventilator called an oscillator helped my son breathe better.
- Week 2 – Samuel received a tracheostomy.
- Week 6 – A gastrostomy tube placed to give Samuel formula rather than by mouth.
- Week 7 – Samuel is transferred to the Pediatric Intensive Care Unit. Here is placed on a specialized ventilator called the Servo-I. Samuel’s breathing immediately improves.
- Week 9 – A specialized tracheostomy tube called the flexi-Bivona replaces the less flexible Shiley tube. The extra length in the tube improved his breathing.
- Week 12 – 27 – A series of trials to transfer Samuel from the hospital grade ventilator to a home ventilator begin.
- Week 28 – Samuel comes home from the hospital on his 6 month birthday. *Weeks are approximate.
- Age 3, Samuel experiences a dream vacation provided by the Make-A-Wish foundation. This helped to birth many trips we would take in the future.
- Age 9, after several sleep studies and ventilator trials, Samuel comes off of the ventilator.
- Age 9, vacationed in the Tennessee Mountains & Niagara Falls, Ontario, Canada.
- Age 10, travelled to Cape Cod, Massachusetts.
- Age 11, road trip to Prince Edward Island, Canada.
- Age 14, still off ventilator. Needs occasional extra oxygen at night.
To learn more about Samuel’s time in the hospital, read Miracle In My Living Room: The Story of a Little Mann. Please leave a comment below, if you would have a friend or a family member who is diagnosed with a TD child.