August 12, 2012

2012 GFPD Conference - Part 2

Ethan's first flight! Don't be fooled, he did NOT stay this happy.
It is pretty hard to believe that we've been home a full week. I ache already to be surrounded by other families who get me and who understand this disease all too well. There was a lot of discussion about how we all "get it," and we wish we could all move to a tropical island and bring the best doctors, therapists, and teachers to join us and we could escape all the "normal" people and just create our own little world. Here is just a few of the people who'd be there


2012 GFPD Family Support Conference
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Our roomies. The Maag family from Carrollton, IL shared our beautiful  3 bedroom suite at the Floridays Resort with us. Not pictured is Clancy, Kenna's older sister. Kenna will be 4 years old in October and has PBD. Her mom, Vicky, has become a very close friend.


Heidi, Ainsley, Ethan and I at the lantern lighting celebration/memorial. Ainsley's family live in Washington state but we have gotten to know each other pretty well via Facebook over the last 6 plus months. Ethan is sorta sweet on Ainsley, I think but he was just tired that night.

Liz enjoyed hanging out with Ethan. Liz is from Texas and her and her husband's little girl Gabby passed away from PBD a few months back. They are an amazing family. We love you!

Landen is one of Ethan's buddies from Arizona. We didn't know it until we got home but Landen was secretly teaching Ethan some new tricks. -- Check out the post "Look what I can do!" to find out more.

There was an amazing team of childcare workers who watched the kiddos so parents could attend the conference sessions. The girl holding Ethan is Taylor. Her younger brother Sam has PBD. She is amazing with the little ones. Nancy is sitting down on the left. She is truly a baby whisperer! Every child loved her and all the babies loved sleeping in her arms.
There are so many other amazing people and hundreds of pictures from the week, but I guess you are probably wondering what the week was like.

Well, I don't feel like I have a very good answer. I mean, it is always amazing to spend time with other PBD families, and this year there were over 30 PBD families in attendance, but at the same time the conference is really hard. PBD is a terminal illness with no real treatments and no cure!!! It is a nasty, horrible disease that steals a child's mental and physical abilities and ultimately their life!!! That becomes very evident at the conference as parents with living children and parents of children who have already passed away embrace each other knowing that we are simply at different stages of the same journey and that unless there is a miracle breakthrough in the very near future, that the science is just too far behind and that most likely it will not benefit the children with PBD that have already been born.

We laughed, cried, and shared nearly every emotion possible (sometimes at the same time) as we discussed the impact that PBD has on our lives, our families, our relationships. We complained about how people with healthy children just don't get us and how most of us still have the desire to add to our family but there is no easy way to do that and wonder if it is even right to bring additional children into our homes and have them be impacted by this diagnosis as well -- just another thing that PBD steals from us. We discussed therapists, diets, meds, hearing aids, cochlear implants, IFSPs, IEPs, life insurance, cost of funerals, the financial strain of raising a child with special needs, insurance, Medicaid, Social Security, adaptive strollers/wheelchairs, communication devices, braille, ASL, and other special needs stuff that for the most part only parents of special needs kids get, understand, or even want to know about. We celebrated and were amazed to see some of the older children who were doing so well; grieved for children who have recently lost hard fought skills; smiled at the similarities of our kids; mourned for our friends whose children have left their arms for the arms of Jesus; and rejoiced in the fact that we do have doctors and scientists that care about our children and PBD and that someday hopefully there will be much better outcomes for children with PBD --- even if it isn't in our children's lifetime.

We stayed up late chatting with friends that is usually impossible (except online or on the phone) due to the hundreds or even thousands of miles that separate us, and enjoyed sharing a meal together or running into each other down at the pool. And I'm not sure that any of us really wanted to leave to go back to the "real world," but in the end we all had too. To say that it was an emotion filled week is an understatement.

We are so thankful that so many of our friends and family helped make the trip possible and please know that your gifts to the GFPD helped cover almost all of our expenses and the extra went to helping offset the costs for other families as well. Thank you so much! To be able to attend the conference and not have to worry about the financial burden that a "vacation" to Florida has is a true blessing. We didn't do a lot of "vacationing," really. We did go swimming almost everyday -- although it rained more in Orlando while we were there than it has rained all summer back in Illinois. The one "fun" thing we did go to was the Titanic museum, which was really neat. We picked it primarily because it was an indoor activity that could be done in less than two hours. It was pretty hot while we where in FL and Ethan is typically only good in the stroller for about an hour, maybe two if he falls asleep, so most of the typical FL attractions were not going to be very Ethan friendly.

One of the most important reasons we hope to always attend the GFPD conference is because it gives us the chance to have Ethan seen by the top PBD specialists in North America. Ethan was once again seen by Dr. Raymond, Dr. Braverman, and Dr. Rizzo -- all who saw him last year in Nebraska-- and also by a dentist, Dr. Paine. We were reassured that we are doing everything that we can for our son. The betaine trial that we first learned about last year at conference has still not yet begun but is slated to begin hopefully by early 2013. If you remember, the uncertainty of the time table to begin the study is why we came home last year and began pursuing the betaine (brand name Cystadane) treatment outside of the study. It is our prayer that this study will get up and running soon so that 12 children will have the opportunity to see if betaine can have a positive impact. As you know we have not yet seen any significant changes in Ethan's blood work that has been able to tell us if the betaine is doing anything or not. However during our visit with the doctors we discussed Ethan's usage of betaine and were given the go ahead to increase his dosage from 3 grams a day to 6 grams a day -- which is what the children in the upcoming clinical trial will receive, so as of August 1st Ethan is taking 6 grams a day of betaine. We will have blood work done soon to make sure that the increased dosage isn't having any negative side affects and to also see if there are improvements that can be seen in the levels/numbers of several different blood tests that would indicate if the betaine is actually having a positive impact on Ethan's peroxisomal function, etc. This of course would not be a cure, but any improvement in peroxisomal function could possibly give Ethan more of a chance to reach milestones and learn skills that otherwise he might not. For me, one of the things I would love to hear/see is for my son to say or sign "Mom." Isn't interesting how your priorities and expectations change when you find out that your child has a disease like PBD.....

In the last week I've stayed very busy with GFPD work. As the Family Registry and Support Group Coordinator one of my first tasks was to recruit regional coordinators for different parts of the United States and now we are in the process of collecting contact information for all the major hospitals in the country so we can send them information at the GFPD. While we know that PBD is a rare disorder and it is estimated that only 20 to 40 children are born in the United States each year with PBD we know that many of these families are not finding the GFPD and so we want to make sure that hospitals around the country know about us and can share our information with families when they learn of this diagnosis. While we don't have any magic pill that will make everything better, we do want families to know that they are not alone!! Our family registry is now just over 225 children from almost two dozen countries around the world!

We have also been brainstorming additional fundraising events. This fall we would like to have chili supper or spaghetti dinner benefit with all the funds raised going to the GFPD and designated for research and also repeat the Pancakes for PBD event in the spring to help our family and other families attend the 2013 GFPD Conference (date and location is still to be determined). We would also really like to try to begin laying the groundwork to put together an annual Pound the Pavement for PBD - Family Fun Walk/Run event sometime perhaps in the spring or fall of 2013 with proceeds going back to the GFPD. There is so much work to be done!

Thank you again to everyone who has and continues to love, pray and support us on this journey.






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