t h e m a y f i l e s is foremost a family blog, chronicling everyday life. Life including natural, healthy eating (with recipes thrown in at random), home educating (with ideas popping up sporadically), an attempt to homestead on .2 acres (with very meager yields), raising 3 of 4 children with a rare genetic disorder, and lots of highly personal family triumphs and failures. You may also find an eclectic array of musings on politics, exercise, sewing, emergency preparedness, backyard chickens, and religion. This blog isn't a campaign to glorify anyone or anything. Just simply a record.


St Louis

One week ago I decided to leave for St. Louis with Berkeley.
I finalized on Tuesday and left Wednesday.

Our family journal has suffered a bit of neglect as a direct result of countless doctors appointments (and the resulting stresses and research), a delightful but classic, night-time fussy baby, and home educating my children.

Both my own sweet mother and Brent's Mom were willing to drop everything to come with me to attend a medical conference on a rare disease I have been investigating for over 2 years. A disease I feel three of my children have inherited. It turned out my mother in law attended the conference with me in person and my mom provided additional moral support in the evening phone calls.

It was an invaluable 3 days of learning, questioning and networking. I literally had the top researchers, geneticists, and pediatric pulmonologists in the world surrounding me. I listened and tried to absorb like a sponge all the information I could. But more importantly I bombarded them with questions. Brent's mother was amazing. She took the baby the moment she fussed. They walked and played and Berkeley slept. It was probably the best 5 days of Berkeleys life, she got so many kisses and so much attention. She flashed those blue eyes and stopped people dead in their tracks.

I snagged the above picture from a website. I was hiding in the back, one of only a handful of parents or patients amongst the attendees.

I then was able to meet other parents, children and adults with PCD. It was fascinating to hear their stories. I was moved to tears the first time I was in a room with other children who sounded EXACTLY like mine. I found myself overwhelmed by how lucky my children are. They do not suffer from any of the debilitating complementary conditions or constant exacerbations as many other children.

I hoped to come away from this conference with my questions answered. A certainty of their diagnosis and the direction to proceed. I cannot say those things happened.

Here is what I did learn....

I learned this is a disease we are still just beginning to try to understand. There are no proven treatments, or even clinical standards of care. Diagnosis is a nightmare. Multiple genes, express varying phenotypes and severity. They have yet to find a foolproof diagnostic tool.

It is clear to me my children have an inherited condition affecting their mucocilliary clearance. From talking to the doctors, all other known possibilities can be ruled out from previous testing done on the children, possibilities that were a less probable fit. I do not know if they will have an official diagnosis of PCD, as the genetic tests only catch about 30% of known cases and other methods of diagnosis are just as imprecise.

Lacking an official diagnosis will make this journey longer, and more difficult. But the treatment and consequences take us down the same path irregardless of the label.

One afternoon Mimi and I enjoyed the lovely sights of St Louis. The weather was phenomenal and the people were genuinely kind. The arch was huge!

The long term consequences of this are uncertain. I am confident the children will have happy long lives with proper attention and care to their lungs. We should have more information available over the next couple months as more in-depth testing is done on all three children. My hope is that their condition is so mild, any intrusive therapy will be minimal. I think this should be the case. But the data at the conference was filled with questions. The danger of this is that children can look and act quite healthy, while a great deal of bacteria and inflammation fill their lungs, causing collapse and permanent damage called bronchiectasis. Thankfully we have 5x as much lung tissue as we need, so we have some "breathing room" per say. If we can slow the damage now, we are making significant strides to improve long-term quality of life.

I have backed off discussing my children's specific health concerns on the blog, but it is our life. I can't pretend this isn't happening if this is going to be our family history. In fact, as the details begin to become more clear, I think I may become an advocate to help doctors recognize similar children to mine, so their lungs can be protected.

I don't write this looking for sympathy. I write this to chronicle a journey that began 7 years ago. I knew I couldn't ignore the wet, productive cough that started at birth and hasn't ever disappeared for more than an hour or two for 3 of my children's lives.

I wish I had the words to describe the frustrations I have bumped up against in every direction with my children's doctors. We finally seem to be finding some pulmonologists and immunologists who are concerned and alert pertaining to our kids. I wish they were knowledgeable on this rare condition as well. It looks like we may have to receive the majority of our care in Denver. It is yet to be determined.

In summary, I am exhausted, hopeful but extremely apprehensive. I am grateful. There are so many things I am so glad this isn't. So many complications I am comforted we will not face.


Erin said...

Rebecca, you have done lots of reading and research, so I'm sure you've already heard of this idea, but it's pretty new to me. We are contemplating building a house right now, and I'd heard some things about some homes being healthier than others. My husband told me not to research it, as we can't afford to spend much extra money for the house. But I figured I'd at least learn some things. Now I'm convinced of Indoor Air Quality affecting our health. I spend all this time trying to make sure the food we eat is healthy, and and yet the air we breathe is even more basic to life than food. Anyway, I know your children's health is a genetic issue, but if you haven't already (you probably have), you should read about VOCs, carpet, garages, and the list goes on an on of things that affect our air quality. You just said you were working to tend to your family's lungs. Anyway, that's probably nothing new to you, but if it's not, HTH. Some sites I found informative:

Rebecca said...

erin, thank you so much for your thoughts. Unfortunately we have lived in 2 diff homes with no change. We have a hospital grade air purifier, removed almost all of our carpet and replaced the little we had left. You know my husband and I talk about leaving utah every winter because the air is so unhealthy. I wish I hadn't thought of that yet but it is vital, I am incomplete agreeance. Any other thoughts, I am totally openminded when it comes to helping the kids.

Rebecca said...

Oh yeah even 3 years ago we stopped putting our cars in the garage. Our naturopath saw high levels of carbon monoxide in our blood. Thankfully we fixed that! So many hidden dangers it amazes me.

Jo Lynn said...

Wow, what an opportunity for you!! I'm glad you were able to gather knowledge and I Hope and pray doctors will have answers and a cure for your sweet little ones along with the many out there dealing with the same struggles. So sweet of your mother n law to join you..family is such a blessing!