Do you like to have answers? I do. Especially when the answers affect the choices you make about your life. For 33 years I asked the question, “Why do both of my children have a rare syndrome and a lung disease?” Finally, in 2010 I received answers.
Historical Genetic Discovery Brings Hope
In 2010, scientists did DNA sequencing in all members of our family. This research resulted in the historical genetic discovery of two separate disease-causing genes.
Headline News
The SLTribune published an article surrounding the details of this story.
SLTribune: Unraveling One Family’s Genome
One Family has Two Rare Disease-Causing Genes
One of the genes the scientists found causes the rare disease, Miller syndrome. The other gene discovered causes a rare lung disease called primary ciliary dyskinesia, PCD.
Both of my children, Heather and Logan Madsen, were born with Miller syndrome and PCD.
Until scientists sequenced our DNA, we didn’t know why they had problems. We also didn’t know if their lung disease was part of Miller syndrome or not.
Hope for Scientists to Find Answers
Participating in this important genetic research gave us hope that researchers would find the causes of Heather and Logan’s diseases. Not having answers made our challenges seem more difficult.
Although we were optimistic, we were surprised when the scientists informed us that they found the two separate genes in both Heather and Logan that caused these two diseases.
What are Recessive Genes?
Both of the genes discovered are called recessive genes. This means that both mom and dad each carry a copy of both of these genes.
Every pregnancy between these two parents gives their child a 25% chance of inheriting a copy of the Miller syndrome gene from both mom and dad, resulting in the child having Miller syndrome.
Each child also has a 25% chance of inheriting a copy of the PCD gene from both mom and dad, resulting in the child having lung disease.
Both Heather and Logan each got two copies of the Miller syndrome gene and two copies of the PCD gene which led to both of them each having both of the diseases.
1 in 10 Billion Odds!
Heather and Logan Madsen had only one chance in 10, billion for both of them to have Miller syndrome and the lung disease, PCD!
Many news sources reported these findings. Among these news sources, University of Utah Health Sciences published this landmark study story.
Accepting and Overcoming Challenges
Although Heather and Logan have multiple problems from having these two rare diseases and also have autism and hearing impairment, they find the beauty in life and strive to accept and overcome their challenges.
Logan and Heather gain purpose and meaning from making a positive difference in other people’s lives through their talents.
Heather is a writer and inspirational speaker. Logan is an artist and inspirational speaker. Visit Logan’s website at https://www.loganmadsenfineart.com/
Hope for Other Families
This historical genetic discovery through the DNA Sequencing of our family gave us answers and brought closure. Having answers brought us peace. We also gained hope that many other families will find answers.
