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It's been a long week and a half.....

It seems like it has been weeks ago since we returned from our little "get away" but in reality it has only been a little over a week....

Ethan's eating habits have gotten worse. He is now screaming the moment he sees a spoon! He continues to have a meltdown when he even gets near the high chair, and even gets upset when Jeff picks him up and carries him into the kitchen. He isn't even letting me feed him in the living room -- one day I had some success by following him around and shoving a bite in here and there as he played, but that isn't working anymore either. So, as of now, Ethan' isn't eating any solids all day. With Jeff's help we are getting Ethan's medicines in as well as a few bites of food in the evenings. Ethan is taking his bottle a bit better, and while I know that we can get enough nutrition in him if he'll drink 24 oz. of his pediatric drink, it isn't an ideal situation.

I took Ethan to the doctor yesterday and there are no signs of dehydration which is a huge blessing and he hasn't yet lost a significant amount of weight, so as long as we can keep him hydrated we have to try not to be too worried, but since eating and drinking is something that has been a constant battle for Ethan since birth, it is hard for this momma not to be concerned. The doctor, the OT, and the SLP don't have any ideas on why Ethan has become so aversive once again to eating, but we will keep working on this and pray that this is just another "Ethan" phase and that he'll start eating again soon.

Last Wednesday I had all four wisdom teeth removed. Thankfully, Jeff's parents were able to help out with Ethan the day of the surgery and Jeff was able to stay home with us as well. The surgery went well and I am very thankful that I don't have any memory of the procedure! On Thursday my friend Sarah was able to come and spend much of the day with Ethan and I. On Friday we were on our own, but I was feeling much better by then. However over the weekend the pain continued to linger and started getting worse, and by then I was out of all the "good" meds that I'd been sent home with. On Sunday evening we had a deacon family fellowship and I was feeling pretty lousy by the end of the night -- not because I didn't enjoy the company, but because my mouth HURT!

So, I called first thing Monday morning and was able to get back into the dentist and of course -- two dry sockets! URG! I was glad to be told that there indeed was a real cause for the continued pain and that I wasn't just being a sissy. [After giving birth to Ethan, and I have no shame in admitting that I got all the modern medicine that they would give me, that my pain tolerance level has changed -- I used to think getting shots or giving blood was tough. LOL -- after having a baby, that is nothing.] As for the two dry sockets that were causing the distress -  the doctor got them packed full of something which made them a lot better, told me to keep taking OTC pain relievers and told me to come back on Tuesday.

So, this afternoon I went back to have that packing removed and have them repacked. The dentist who did my surgery was not working today so I saw another one of the doctors today and the stuff that was packed in the dry sockets today is supposed to say in a week, so I'll go back next Tuesday to get it out. And of course since I haven't had a good "PBD" cry in a while, the dentist's office seemed like a great place to do it when the dentist asked how old Ethan was and I answered "almost 2" and I started to cry. But God is good, and the dentist shared that he is a Christian and we had a little "God moment" there in the office. I shared about Ethan's disorder and how blessed we are that he is still with us and that all life is precious and that without the Lord's strength I'm not sure how in the world we would handle this (since even with His help it can be really, really tough).


After my little break down I got to talk to a dear friend and sister in Christ and this PBD journey, Vicky. God has truly blessed my life by bringing women like her and Mel, and so many other amazing women into my life who share a heart for the Lord and a love for these very special children that He has given into our care while they are on Earth.

I am so thankful for my GFPD family and while not all of us share the same beliefs, cultures, or even languages there is a unique bond that has made us family. The Marshall clan is counting down the weeks until we get to see so many members of this extended family in Orlando -- we'll be at the 2012 GFPD Family Support Conference in about 5 weeks. There are going to be over 20 children/adults with PBD in attendance, which as far as I know is the largest gathering ever of children with PBD, in the world! Our mighty little non-profit is doing amazing things for the families impacted by these rare diseases. I'm not sure I can ever thank those who had the vision for connecting with other parents of children impacted by PBD nearly 20 years ago at a time when the Internet was still such a novelty for most people -- it is because of them and the families that followed that the GFPD was created - thanks John, Heather, Shannon and so many others!!!!

I want to also again thank all those who continue to pray, support and bless our family. It is hard to explain how thankful our family is knowing that we are going to be able to enjoy our trip to the GFPD conference and not have to worry about the financial stress of a "vacation" to FL. We have been overwhelmed by the generosity of our friends, family and even complete strangers who have heard about Ethan and our family. We were able to raise over $4,000 between our letter campaign and the Pancakes for PBD event which will cover all of our conference expenses and help underwrite the expenses for other families to attend the conference as well. THANK YOU!!!

As most of you know that I am very involved in the GFPD and as the Family Registry and Support Group Coordinator I have the pleasure of helping other families know that they are not alone in this diagnosis and journey and that the GFPD is here for them regardless of where on the journey a family is. I think all of us would say that this diagnosis changes you and your family FOREVER. While it is at times very difficult caring so much for all of our families throughout the world, I feel like this is part of my purpose. I may not be able to "cure" Ethan, but I can do this. I feel honored to be a part of such an amazing organization and extended family.

That being said, I need your continued help! We need to keep spreading the word about PBD and about the GFPD. We need to help build the GFPD into a force that can help fund research, learn more about PBD, find treatments and a cure; continue to offer yearly conferences that allow families from around the world and the top specialists gather to learn more from one another and to build connections and relationships that are life changing; and we need to be able continue to get our name to all edges of the globe so that families around the world know that they are NOT alone in this. We need to partner with organizations for families impacted by X-ALD to get newborn screening for X-ALD and PBD passed in every state in the US and eventually all countries. We need to help advocate and spread awareness of pre-pregnancy carrier testing for couples who are planning on starting a family, so that they are able to be aware if they carry recessive traits for hundreds of different deadly genetic diseases so they can make informed decisions about how they want to proceed with building their family if they discover that they both are indeed carriers, etc. There is so much work to be done!

So, how can you help?

  • Pray for the GFPD, the leadership team/Board of Directors, and all the GFPD families. Pray that the GFPD will be blessed with generous donations that will allow for financial security for the non-profit to be able to continue ministering to families and fight for better outcomes for children with PBD.
  • Share our story! Tell people about the GFPD, PBD, Ethan, and his friends.
  • Check out the GFPD website to learn more about our organization and PBD.
  • "Like" the GFPD on Facebook and share it with all of your friends.
  • Check out Counsyl website and learn more about pre-pregnancy carrier screening for those planning to start a family.
  • Become an advocate for all rare diseases - check out NORD's website which will help you send emails to your elected officials about important legislation that will benefit individuals and families impacted by rare diseases.
  • Sign petitions and spread the word about the need for adding newborn screening for X-ALD (that will also "flag" PBD).
  • Educate yourself, your family, and your children about children and adults with special needs, and try to see them as the unique individuals that God created -- not to be feared, neglected, bullied, or made fun of, etc.. Spread the word to end the word. If possible, find ways to get involved locally with families with children who have special needs --- volunteer to be a one-on-one helper at church, start a special needs ministry/outreach, support your local non-profits that minister to kids and adults with special needs such as Easter Seals, volunteer with Special Olympics, the local riding stable that has programs for kids with special needs, etc. Get involved and help your children make friends with other children who might be "different" than them. Find books that have pictures of kids with hearing aids, wheelchairs, and other type of devices so that they begin to understand why some kids and adults wear/use/need such equipment. And when you see a parent with a child with special needs, say hi, smile, open a door, and please be kind. Thanks. :)








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