Families and friends of people affected with Miller syndrome ask if the rare genetic disease Miller syndrome is life-threatening. Because there are only 30 cases documented in medical literature, there’s still a lot about Miller syndrome that isn’t known.
Symptoms of Miller Syndrome Can Be Life-Threatening
Children with Miller syndrome are born with underdeveloped cheek bones and a very small lower jaw. They often have an opening in the roof of the mouth called a cleft palate, and/or a split in the upper lip called a cleft lip.
Heather and Logan had three of these characteristics. They didn’t have a cleft lip. Having a small jaw restricts the airway, which can lead to life-threatening breathing problems.
In regards to both of my children who have Miller syndrome, Heather and Logan’s lives were threatened at birth and during infancy because their small jaw created a small airway making breathing difficult. Also, their cleft palate made getting enough nutrition a challenge.
Along with these problems, at that time we didn’t know my children also have a lung disease that is separate from Miller syndrome and is life-threatening.
As a result, it’s not conclusive as to which disease was life-threatening for them. Certainly having both diseases was life-threatening then and continues to threaten their health now.
The small lower jaw and airway, along with the cleft palate abnormalities frequently cause feeding problems in infants with Miller syndrome.
Both of my children struggled at feeding time. I fed Heather with a specialty feeder called a Breck feeder which consisted of a glass syringe, 1-1/2 inches in diameter.
The syringe had a rubber ball on one end and a long black lambs nipple on the other end. The long nipple went far back into her mouth towards her throat to bypass her cleft palate so that all the formula wouldn’t come out of her nose.
I tube fed Logan for six months because he kept inhaling the formula and getting pneumonia, which can be life-threatening. However, with modern medicine, doctors were able to treat Heather and Logan in time to stay ahead of serious infections.
With so few cases of Miller syndrome, the average life expectancy is still unknown. I’ve never known how long they would live. Heather was born in 1980, and Logan 1983. I am grateful they are still alive. In spite of their challenges, they enjoy making a positive difference in the world.
Resources:
Video: What is Miller syndrome? With Dr. Lynn Jorde
