Do you know someone who has a rare disease? How much do you know about their condition? Understanding more about the illness that affects someone helps you understand and accept them more easily. Having information also helps bridge the gap between healthy and disabled people.
Both of my children, Heather and Logan Madsen, have the rare disease Miller syndrome which is documented in the medical literature in only 30 people worldwide. Heather was 33 years old, and Logan was 30 when we finally found out what causes Miller syndrome. That’s a long time to live without answers!
When Heather was born, the genetics doctor we consulted with told us the problems Heather was born with wouldn’t happen again in another child. Obviously, he was wrong.
Miller Syndrome Described by Dr. Lynn Jorde
My husband, Dr. Lynn Jorde, professor and department chairman of Human Genetics in the Medical School at the University of Utah, explains what this rare disease is to 100 medical students at the University of Utah in the video below.
Groundbreaking Research in Gene Sequencing Finds the Miller Syndrome Gene
We became the first family worldwide to have all our genes sequenced in groundbreaking research done by scientists. This study resulted in the discovery of the gene that causes Miller syndrome.
Researchers also found a gene that causes Heather and Logan’s lung disease, primary ciliary dyskinesia, PCD. Identifying these genes confirmed that a different autosomal recessive gene caused each of these two rare diseases.
A recessive disease is when both parents carry the disease-causing gene, giving the baby a 25% chance of having the disease.
In our case, both Heather and Logan’s father and I carry the two diseased recessive genes. We both have one Miller syndrome gene, and we both have one PCD gene.
Against all the odds, Heather and Logan each received both copies of both diseased genes, one from mom and one from dad, giving them the 25% chance with each condition of having the disease.
In the video below, Dr. Jorde describes what rare Miller syndrome is and how it affects a person.
Read more about this syndrome and how you can help at the Foundation of Nager and Miller Syndromes Website, FNMS
