Project DOCC

 published November 4, 2007, The News-Herald

Have you ever noticed that once in awhile you’ll have an experience that helps to put your life in perspective?

I had such an experience in October when taking part in a Project DOCC -- Delivery of Chronic Care -- panel presentation at the National Society of Genetic Counselors Conference in Kansas City, Missouri.

Project DOCC was founded by Maggie Hoffman, Donna Appell, and Nancy Speller-- themselves parents of children with disabilities.  

Project DOCC was created as a means to improve the quality of care for severely chronically ill children by educating medical professionals about their special needs as communicated by volunteers giving a parent's perspective.

I had the opportunity to observe a Project DOCC presentation, in June of 2006, conducted with five parents of children with Duchenne Muscular Dystrophy (DMD).

The parents represented children across the spectrum of a diagnosis, some during the early stage, and others during the late stage. The project not only helped to educate others about DMD but also focused on the non-medical aspects of the diagnosis, such as the human factor, and the quality of life of the afflicted.

When Katie Clapp, from FRAXA Research Foundation, asked if I would be able to spend a day in Kansas City to be a part of a Project DOCC panel I couldn’t resist the opportunity to sit on the other side of the table, giving the parents perspective.  

In this presentation, Maggie did something very different with the project. The panel did not consist of all caregivers dealing with a common condition, but rather individuals living with or caring for individuals with a genetic condition.

Naturally, I represented Fragile X syndrome and I was partnered with individuals dealing with Hermansky-Pudlak syndrome (HPS), Duchenne Muscular Dystrophy (DMD), Marfan syndrome and Breast Cancer.

The five of us had never met until breakfast on the morning of our presentation. Prior to meeting, Maggie provided each of us with a list of panel questions to answer as it related to the genetic condition we were living with.

It was not a simple matter of filling in the blanks. Maggie worked independently with each panelist, creating focus and clarity in the answers, polishing what would become our script of sorts.

During breakfast, Maggie provided a seating assignment, a list of who would respond to what question, in what order from the scripts created from our questionnaires.

Immediately following breakfast, we went to the conference auditorium and presented before the 900 individuals attending the conference.  

Maggie wove our stories intricately together into one powerful presentation in which we not only offered models of “best practice” guidelines but lessons learned from being at a receiving end of a genetic diagnosis.

It was information that genetic counselors, geneticists, and genetic counseling students would never experience within the confines of their practice or classrooms.

We all had stories to share of our experiences on the road to discovery with our unique genetic conditions.

Imagine what it was like sitting next to someone with HPS who related how they diagnosed themselves, prior to the official medical diagnosis, discovering the prognosis is often fatal, shortening ones life expectancy.

Imagine what it must be like to be a parent of two young men diagnosed with DMD in which you learn your child may be lucky to survive into his 30’s.

Imagine what it was like driving to work one day and suffering a massive heart attack that was a result of a genetic condition, Marfan syndrome, that you didn’t know existed, let alone have.

Imagine learning after it was too late that your breast cancer was a result of a genetic pre-disposition in your family.

Imagine what it was like learning you carried the fragile X gene that was a leading cause of mental retardation and currently the leading genetic cause of autism, discovering it had been silently lurking unknown in your family for four generations.

The most amazing thing of all was how through Maggie’s guidance we spoke as one voice, and one condition was not considered more important than another.

We began that day as five strangers, with uncommon diagnoses. By the end of the presentation, we were one, with a common goal, to make a difference in someone else’s road to diagnosis.

We were helping to educate genetic specialists from the individual and/or parent’s perspective.

It was a humbling and truly powerful experience and one that I owe to my son Austin, and to fragile X.

Without Austinand fragile X being a part of my destiny, I would have never met Heather, Brian, Vicki, Cherine or  Maggie. My world would be a much smaller place, with a lot less meaning.

The next time I ask myself “Why me,” I’ll stop and think of Kansas City and I’ll know why me.

Learn more about Project DOCC at www.projectdocc.org

The Good Wife

This was written in October 2001, never published.  I left the work environment so I could be a better advocate for Austin, so I could do whatever it took to help him succeed.  Twelve years later I still believe it was the right decision, I'm still working at it and I do miss my paycheck, my cleaning lady (Mary and crew) and my financial independence.

As I enter my 56^th year my husband is still looking for “The Good Wife”.  I swear that man should have been born in the depression years. Some days he acts like we don't have two-nickles to rub together, which isn't true and simply drives me nuts. 

I've only got four more years before Genevieve will be 18, I'll be 60,  yet I'm not sure we'll ever truly have an empty nest. 

Bottom line - for the men out there - “Happy Wife, Happy Life”!

The Good Wife's Guide

Prior to my departure from my past life as a working woman the guys in the department left a copy of "The Good Wife's Guide" from Housekeeping Monthly dated May 13, 1955, on my desk. After a couple of months off I've revisited this article and think that some updates are necessary. Here are some statements from the past and what I think needs to be changed.

"Have dinner ready. Plan ahead, even the night before to have a delicious meal ready on time for his return. This is a way of letting him know that you have been thinking about him and are concerned about his needs. Most men are hungry when they come home and the prospect of a good meal (especially his favorite dish) is part of the warm welcome needed." I dare any woman to try this. I can't tell you all of the times I've prepared a great meal only to have him show up late or walk in and tell me he's not hungry because he went to "The Big Fish" for lunch. Honestly, his favorite dish isn't food at all.

"Prepare yourself. Take 15 minutes to rest so you'll be refreshed when he arrives. Touch up your make-up, put a ribbon in your hair and be fresh looking. He has just been with a lot of work weary people." Right, he's been with "work weary people" he should try a day with three children if he wants to think weary, especially when one of those children has fragile X and autism.

"Prepare the children. Take a few minutes to wash the children's hands and faces (if they are small), comb their hair and if necessary, change their clothes. They are little treasures and he would like to see them playing the part. Minimize all noise. At the time of his arrival eliminate all noise of the washer, dryer or vacuum. Try to encourage the children to be quiet." Change their clothes? As it is, laundry is a full-time job so why would I want to double my load. Little treasures playing the part and minimize all noise, what an impossible feat. If the children were quiet there would definitely be something wrong. I haven't seen quiet in 21 years and we've got a good sixteen to go before Gen's 18.

"Listen to him. You may have a dozen important things to tell him, but the moment of his arrival is not the time. Let him talk first - remember, his topics of conversation are more important than yours." Now what could be more important than what Austin, Natalie and Genevieve accomplished in a day?

"Make the evening his. Never complain if he comes home late or goes out to dinner or other places of entertainment without you. Instead, try to understand his world of strain and pressure and his very real need to be at home and relax." His world of strain and pressure? Come on gals, the number of men who could accomplish what we do in any given day being a working woman or a stay @ home mom is slim. I try to make the evening filled with as much chaos as the day. The man of the house really needs to appreciate the fact that he can leave the chaos! Also, I believe what's good for the goose is good for the gander, make him go out and make sure you get equal time.

"Arrange his pillow and offer to take off his shoes. Speak in a low, soothing and pleasant voice." This is where I really draw the line. If I start to tally the number of times I check shoes to make sure everyone has them on and on the right feet before we go out the door this is absolutely out of the question. Once Austin actually went out the door with two left shoes, no big deal it was only to the Ped’s office, I think I made the staff’s day. With Genevieve starting to demonstrate her independence I can't tell you the times we've gone out the door only for me to realize that she has her pants on backwards. If the man can't dress or undress himself, I give up, his mother failed and it's not my problem.

"A good wife always knows her place." She is the master of his universe, need I say more?