February 27, 2013

RARE DISEASE DAY --- ALONE WE ARE RARE. TOGETHER WE ARE STRONG.

World Rare Disease Day is tomorrow (February 28, 2013). This year's theme is "Rare Disorders without Borders! There are Rare Disease Day events going on throughout the United States and around the world sponsored by and affiliated with numerous organizations.

If we had not been thrown into the rare disease world on August 20, 2010 when we learned that Ethan had PBD-ZSD, I probably would have never learned or even heard about PBD-ZSD and Rare Disease Day.

PBD-ZSD is just one of thousands of rare diseases. Tomorrow is dedicated to uniting the rare disease community, because while "ALONE WE ARE RARE. TOGETHER WE ARE STRONG."

Rare Disease Facts (globalgenes.org)
  • In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans.
  • Rare and genetic diseases affect 1 in 10 Americans (30 million people in the US) and 300 million people globally!
  • Over 7,000 distinct rare disease exist and approximately 80% are caused by faulty genes.
  • The National Institutes of Health estimate that 50% of people affected by rare diseases are children, making rare diseases on of the most dealdly and debilitating for children worldwide --- 30% of the children with rare diseases die before the age of 5! 
  • Rare diseases are responsible for 35% of deaths in the first year of life.
  • The prevalence distribution of rare diseases is skewed -- 80% of all rare disease patients are affected by approximately 350 rare diseases.
  • According to the Kakkis EveryLifeFoundation, 95% of rare diseases have not one single FDA approved drug treatment.
  • During the first 25 years of the Orphan Drug Act (passed in 1983) only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined.
  • According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease.
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.
PBD-ZSD Facts (www.thegfpd.org)
  • Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) is a rare, genetic, metabolic, terminal condition affecting all major systems of the body. 
  • PBD-ZSD includes a wide range of phenotypes that were formerly classified into 3 groups: Zellweger Syndrome, Neonatal Adrenoleukodystrophy (NALD), and Infantile Refsum Disease (IRD).  As the understanding of the wide spectrum of this disorder has grown, there has been a movement away from the original classifications of NALD and IRD and now a greater acceptance of the terminology Peroxisomal Biogenesis Disorder- Zellweger Spectrum Disorder (PBD-ZSD).  The terminology Zellweger Syndrome is still typically used to describe infants that display the characteristics of the most severe phenotype of PBD-ZSD.
  • Children with PBD-ZSD commonly experience sensorineural hearing loss, vision loss, hypotonia, seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency. 
  • PBD-ZSD is inherited in an autosomal recessive manner, and the prevalence of PBD-ZSD has been estimated at approximately 1 in 50,000 live births.
  • Approximately 80 children are born each year in the United States with PBD-ZSD. However many of these children will never be diagnosed properly.
  • Nearly half of all children with PBD-ZSD die before their first birthday, many live for just weeks, and the majority of children will not live past the age of 10 (although there are a handful of children who live into their teens and beyond).

Thankfully PBD-ZSD is one of the rare diseases that has a disease specific foundation supporting and researching their rare disease.  The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents whose children are impacted by Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD).  GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD.  Additionally, GFPD organizes family support and informational conferences, connects families through an online support group, and provides an equipment exchange program. 

I had never expected to be part of the rare disease community and the GFPD, and to be honest I wish I wasn't. I wish that Ethan was healthy and that PBD-ZSD wasn't impacting every aspect of his and our lives, but that just isn't our reality. However, I have to say that I have met some of the most amazing, strong, and faithful people along this journey. We share the hope that someday treatments and a cure will be found for the rare diseases that impact the ones we love. Until then we are diligently involved in raising awareness for our specific disease(s) and for the rare diesease community at large.

Many of the members of this new family share my faith in the Great Physician and know that while our children may not be cured this side of heaven, that there is indeed HOPE. We are not hopeless, although there are many times that this journey feels that way, particularly when the path seems to be filled with more rocks and bumps than any person should ever have to endure, but we don't even in the midst of the darkest days forget that the Lord loves us.

We hold on to the promise found in Romans 8:28 (NIV), "And we know that in all things God works for the good of those who love him, who have been called according to his purpose." We may not understand why things are the way they are but we know that we serve a God who is bigger than these diseases and that He is on this journey with us.

Would you please lift up those impacted by rare diseases in your prayers today, tomorrow, and whenever you think of us? We need treatment options, we need cures. We need hope for a better tomorrow for those that we love who are impacted.

February 25, 2013

Ethan's first treadmill workout - February 25, 2013

This morning was Ethan's first physical therapy workout on the treadmill. There were no tears, and overall it was a very positive experience.










February 24, 2013

Sick. Again.

I believe Ethan must be allergic to school and church. He got to go to school Tuesday and Thursday (after missing the week before because he was full of yellow boogies and coughing) and by Thursday night he was full of yellow boogies, his eyes were red and watery again and the cough was back.
 
We cancelled PT on Friday due to a combination of the weather and Ethan not feeling well. We are missing church again this morning due to Ethan's boogies and his cough (I don't believe in taking sick kids to the nursery).

We've got a busy week, and several appointments in addition to school (if Ethan is feeling better by Tuesday morning) so please continue to pray for our family to be well. Jeff and I still are struggling with the tail end of this cold as well.

Is it too much to ask for us to all be "healthy?" I wouldn't think so, but since it seems like we have been sick more days than not since before Thanksgiving, perhaps it is. :(
 

February 18, 2013

Please show your support for th SACHDNC and continued expansion of newborn screenings that can save lives!

The SACHDNC is the only national venue where parents can contribute their experiences and perspectives to the public deliberations on newborn screening. For more information and to show your support/sign the petition, click here.

Please take a few minutes and sign the petition. This is to try to save the SACHDNC -- the group that Dr. Raymond and Ann Moser presented the newborn screening for peroxisomal disorders (ALD, PBD-ZSD, and DBPD) too this fall. Although it has not yet been recommended, they will continue to fight. This screening will save the lives of children born with ALD and will give answers to families of children with PBD-ZSD and DBPD so they can be ready to proactively address the complex medical issues that come along with these diseases.

There is concern that the SACHDNC will be cut. This group is critical to the future of newborn screenings for peroxisomal disorders and other diseases. Newborn screenings can save lives; allow families to seek the medical resources for providing the best quality of lives for their children; and allow families to make informed decisions about future family building if they now know that additional children born would be at risk for having a potentially fatal disease.

Newborn screenings are important and we need the SACHDNC!


Please show your support!

For more information about the SACHDNC visit their website.

February 14, 2013

Happy Valentines Day??

Well, I'm not sure I can say we had a "happy" Valentines day, although we did get to spend the day together (since we are all sick).

Ethan has been sick again, for a week and I started getting sick on Tuesday night. And of course, to add to the fun of Ethan being sick he decided to be awake from 3:30-5:30am on Wednesday morning. Yesterday, Jeff took the day off and called his dad to come and help with Ethan so that I could get some rest as well after we all went to the doctor. Ethan and I were really dragging. My poor little guy had goo coming out of his eyes and his nose. His eyes are bloodshot, he wasn't eating or drinking, and was overall very lethargic and just plain miserable. I wasn't doing much better -- crazy headaches, sore throat, body aches, dizzy and nauseous (I think I would have felt better if I could have thrown up), etc. We needed help!

The doctor prescribed some eye drops for Ethan, a different antibiotic (since we all remember how Ethan reacted to the last one) and some Tylenol with codeine for me. We were both tested for the flu, which came back negative, and due to my red sore throat and the drainage she could see, I was tested for strep which came back negative as well.

So we headed home and Jeff's dad got there soon after and he and Jeff were on Ethan duty so I could head back to bed. They did a great job and woke me periodically to double check on medicines for Ethan, etc. Ethan only drank about 6 oz. of his formula and ate only about 6 oz. of his milk/formula all day. :( Around 5pm I woke up and felt a bit better -- I think I my fever must have broke -- as I woke up drenched in sweat, and although my throat still hurt, at least the dizziness and other things were gone. Jeff's parents both came back by in the evening and check in on us and we were thankful that Ethan went to bed without much of a fuss around 8:30pm -- and we followed shortly afterwards.

This morning Ethan was up at 4:30am and was grumpy! He drank 1 oz. of his milk/formula and then just cried and wined. He wouldn't play, wouldn't snuggle, just was miserable. A little after 5:30am he cried himself asleep in my arms and we were able to go back to sleep -- until 7am. When we woke up then, Jeff was now feeling really sick, and ended up calling in this time for himself [although he had already requested a half-day since we had Ethan's IFSP (Individualized Family Service Plan)meeting scheduled for 12:15pm today]. Thankfully last night Jeff's dad had agreed to come over and watch Ethan so we could go to the IFSP meeting and not have to drag our sick little boy with us.

So we spent the majority of the morning getting medicine in, attempting to get Ethan to drink and eat, and trying to get him to be happy. When Jeff's dad got here he took over so Jeff and I could get ready for the IFSP meeting and we headed to that.

It was a LONG meeting -- a little over 2 hours, but overall we came away feeling okay. It is very overwhelming, especially since this is our last meeting with our Early Intervention (EI) team and today it included discussion of transitioning to the public school and had representatives for the school district  present (vision and hearing itinerants). In May we will begin a series of three meetings that will culminate in the writing of Ethan's IEP (Individualized Education Plan).

To sum up the meeting -- besides in the areas of gross motor and social/emotional skills Ethan hasn't made much progress that can be seen by the "numbers" (evaluation tools) over the last six months, although everyone acknowledges that he is doing more now than he was six months ago.

  • Ethan's gross motor skills have exploded (for Ethan) since this summer -- he now pulls up, can climb up onto furniture, crawls on hands and knees, cruises at the furniture, and most recently began taking steps with his walker without the sling! We've still got a LONG way to go before he walks independently or more than a few steps with the walker all on his own, but when we look back at how far he has come since this summer - WOW! 
  • Ethan's social/emotional skills have also improved. His engagement of others in play -- both kids and adults, is so great to see. He has continued to develop his turn taking games/skills and is a very outgoing little boy (when he isn't sick). This is actually were Ethan is "scoring" the highest from the viewpoint of several of the therapists. His hearing teacher placed these skills at right around 20 months -- which is significantly higher than most of his other "scores" that are hovering around the 12 month mark.
  • It is always tough to hear that although Ethan is making progress (which we thank the Lord for and acknowledge that this may not always be the case) that it isn't enough to yet show any improvement when it comes to the "tests" and that he continues to just fall further and further behind because the bar just keeps raising.
  • It is also hard to hear once again that it may very well be time for Ethan to get a feeding tube, to supplement his fluid and nutritional needs, especially during times of illness. Jeff and I have been talking about this a lot in the last several months and have recognized that we are most likely going to be traveling down this road sooner than later. We are in the process of getting a referral for a GI specialist to learn more and begin exploring this topic further. A feeding tube does not mean that Ethan would not be an oral eater anymore, but as you know Ethan has been sick nearly nonstop since the beginning of November, and even when Ethan is not sick and he is eating well, he is almost always meeting just the bare minimum of his fluid and nutritional needs.This one is really tough on me -- not only is it just another stab in my heart about the reality of this disease and how it impacts every bit of Ethan, and our lives, but it would mean SURGERY! Ethan has been sedated twice -- once for an MRI at 3 weeks of age and again just before thanksgiving for another MRI and the hearing test. Sedation alone scares me, but adding surgery to it terrifies me! I know that LOTS of children with PBD-ZSD have feeding tubes (and hundreds of thousands of other children with various different challenges do as well) and that it is a very routine operation, but it is still an operation, which frightens me. Nothing has yet been decided, we don't even have an appointment with a GI specialist set up yet, although we hope that we will be getting one set up soon, but I would like to ask that you would begin praying for us, specifically for this situation and that we would do the right thing by our son, no matter how scared we might be.
  • We also spent a good portion of the meeting discussing the transition from Early Intervention to the public school system, the services we would be losing for Ethan, how we might be able to get some of the services outpatient through the hospital etc. Things are going to be very different come August! The plan is that Ethan will attend preschool five days a week, from 9:00-11:30am. If for some reason they do not have room in the morning session then I'm not sure what we will end up doing because we will not send him to the afternoon class -- it would be pointless he would either sleep the entire time or he would cry and be so cranky and miserable that the therapists and teachers wouldn't be able to get anything productive out of him -- and I'm not going to put Ethan, the school, or myself through that. There are a wide range of special education classes at the school and where he will be placed, will be determined in May/June and this could always change depending on Ethan's skill level and development, etc.
After the meeting Jeff and I came home and found a very tired little boy who was doing everything he could to not fall asleep. It always warms my heart to see Ethan play with his grandparents. He loves his grandpas especially. I wish we lived closer to my parents so they could see him as frequently as Jeff's parents do, but even the distance and time between visits doesn't seem to affect Ethan much because whenever my parents come to visit us or we go to their house it doesn't take Ethan more than a few minutes to "warm up" the them. I think he knows how much his grandparents and great grandparents love and cherish him!

Ethan drank a few ounces of his milk/formula and then laid down for a nap. Jeff let me lay down as well, and I slept about 2 hours -- and felt a little better, although my throat and head are still hurting. This evening we got Ethan to eat a little, got more meds in him, got him showered, he drank about 2 oz. and we got him to bed a bit before 9pm. We are praying that he'll make it through the night tonight!

Jeff now has a horrible sore throat and headache, so I am hoping that he will wake up feeling better, not worse in the morning, since he needs to try to get back to work. I'm hoping that I'll start feeling better as well, and that Ethan won't be nearly as sick and cranky in the morning -- the eye drainage wasn't nearly as bad today so that is hopefully a good sign even if he is still coughing and full of boogies.

Tomorrow morning Ethan and I will venture out into the world to go pick up his new AFOs (braces) and hopefully not infect anyone who comes in contact with us. :)

Prayer Requests

  • That Jeff, Ethan and I would all get and stay "healthy."
  • For families across the country and world impacted by PBD-ZSD and other life threatening medical conditions. Pray for comfort and peace from the Lord for families whose little ones are already in Heaven, and that those who do not yet know the Lord would come to know Him as their personal Savior and Lord. Pray for strength and wisdom for those whose children are still fighting and that the families who do not know Jesus would put their trust in Him and embrace the Hope only He can provide.
  • For wisdom, strength and guidance for Jeff and I as we continue to love and parent Ethan. That God would have His hand on our family and that we would always remember that He is GOOD, even when we don't understand why things are the way they are. Pray that we would be in complete unison and peace with tough decision that we may have to make in the relatively near future about a feeding tube.
  • Pray that Ethan would continue to grow, learn, develop, and enjoy life. That he would be a happy child and that he wouldn't be in pain or suffer. 
  • Pray for a miracle, pray for a cure! Children with PBD-ZSD and so many other diseases need real treatment options and cures this side of heaven, now! Pray for the doctors, educators, therapists, and researchers who dedicate their lives to trying to improve the lives of children with special needs and/or complex medical issues. 





February 12, 2013

Take Action to Improve Hearing Aid Coverage for Illinois Families


Do you or someone you know wear hearing aids (or needs too)? Did you know that the majority of private health insurance plans have little or no hearing aid coverage (they consider hearing aids cosmetic)?

In Illinois, this could hopefully change soon! Bills have been introduced in the Illinois General Assembly that would mandate health insurance to cover up to $2500 per ear every 3 years for individuals of any age. This is wonderful and if passed will NOT have a significant impact on insurance cost/premiums. In my opinion it is the right thing to do! I believe no individual who needs hearing aids and wants them should be denied them simply because they do not have the money to afford them!

Illinois residents, please visit this link to learn more and to sign the petition! Let your State Senator and Representative now that everyone in Illinois who needs hearing aids and wants them should have access to them!

There are so many families who have private health insurance who do not qualify for the state programs that help purchase hearing aids for children and/or who have children who have aged out of Early Intervention (at age 3) who no longer have access to any help covering the enormous cost of hearing aids -- which can easily range from $2,000 to $3,000 per ear and often need replacing every 3 to 5 years (sometimes sooner depending on if their has been a change in hearing, etc.)

We were fortunate that when Ethan got his first set of hearing aids at 4 months of age, that we qualified for assistance through DSCC (Division of Specialized Care for Children) and they covered the entire cost of the hearing aids and earmolds since our insurance had at that time no hearing aid coverage. Since then we no longer qualify, due to Jeff's raise at work (which we PRAISE the Lord for) but that left us in sort of a bind. Thankfully, since Ethan has not yet turned 3, Early Intervention (EI) has been able to cover his earmold and hearing aid costs -- and covered his new pair of hearing aids because the old ones where no longer strong enough for the loss that he now has. Our private insurance now has very limited hearing aid coverage -- so limited that you can only select from these online "hearing aid in a box" type distributors who don't even offer pediatric hearing aids, so we are VERY THANKFUL that EI has been able to cover the cost, since we just simply don't have and extra $5,000 sitting around for hearing aids!

Illinois and nearly every state have enacted newborn hearing screenings because they recognize the importance of identify children with hearing loss so that parents can make an informed decision about the communication mode that they will use and also because often hearing loss can be a symptom of a more significant health issue that may need identified and addressed, etc. So, it just makes sense, to me at least, that if states are saying that it is important to identify children who might benefit from hearing aids, that we make sure that all children and individuals have equal access to them!

Additionally, I believe in the long run this will SAVE the state of Illinois money. If private insurances will cover the bulk of the cost of hearing aids, families like ours (who have private insurance but don't have the financial ability to pay $5,000 out of pocket every 3 to 5 years for hearing aids -- particularly if this is just one of your child's health issues) will not have to seek state/government programs to help with this cost because the private insurance that we pay for will simply do what they should be doing already -- cover the cost of them!  

Hearing aids are not cosmetic and should be covered by private health insurance companies! If you live in Illinois, please show your support and spread the word!  




February 11, 2013

New Ears!

Ethan started feeling sick on Thursday evening. He just got worse over the weekend, and last night was really tough. We started trying to get Ethan to bed at 7pm, he was visibly tired and not feeling well, but he did not go to sleep until almost midnight. We drove twice, we let him "cry" for 10 minutes twice, he refused to drink, he wouldn't play, he was just miserable. He has been full of boogies, and coughing, and just sick.
 
Here's what he looked like this morning.
 

 
It was not looking very good. Jeff and I talked and we agreed it was time to call the doctor. However, by 8:30am, when the office opens, Ethan was looking and acting a bit better, so I waited. A little before 10am we got a call from the audiologist who asked if we could come in and pick up Ethan's new ears! We said YES! So, this afternoon we headed to Springfield.
 
Ethan loves his new ears. They are larger and more powerful. His reaction/response was wonderful. Our audiologist, who is actually having a baby this evening (she was having contractions while we were at the office) was a little teary eyed over how responsive Ethan was. He has been aided since he was 4 months old, but his old ones just weren't strong enough to give him the proper amplification needed for his loss.
 
Although they aids are significantly larger than his old ones, Ethan tolerated them REALLY well. He wore them in the office, all the way home, and the majority of the evening before pulling them out (and he did that only because he was mad/frustrated). He even tapped his ear when we were getting ready for evening meds, which we following with bath time and bedtime. We have no way of knowing, but Jeff and I both wondered if he was trying to say, "Hey, where are my ears?" We will be looking to see if this is something he does more often, etc. to try to tell us something.
 
 
 
 
 
 
Thankfully Ethan was in bed by about 8:30pm tonight and hopefully he will sleep all night. We all need the rest. Getting the new hearing aids seemed to really make his day though and was in a pretty good mood tonight despite the boogies and drainage -- it is so bad his eyes are draining yellow/green gunk too. BOO!
 
No STEPS/school for Ethan tomorrow. Perhaps that was his plan all along.
 



February 8, 2013

Staying busy.

It's been a while since my last post. I wasn't feeling up to writing for a bit. Sometimes there are some pretty tough parts of this journey, and I was sort of in a funk for a while, but overall we've had a pretty good couple of weeks.

So what have we been up to since the neurology appointment 2 weeks ago?

Fri. 1/25
I took Ethan to the orthotist (Mr. Andy) who makes Ethan's AFOs for a check up and to see if it was time for a new pair. Ethan still has his first pair that he got back in September 2011. Ethan's current AFOs are now too small and too big all at the same time. His feet have grow and as he has grown taller his calves have thinned out, so they need to be longer through the foot and slimmer through the calf and ankle. So, it was just a quick appointment and Mr. Andy just needed to touch base with Ethan's PT and doctor to get the script. He also needed to call our insurance to see if they would play nice and cover them, because if not we were going to have to start working to see if Early Intervention would.

Mon. 1/28
Ethan's vision therapist, Joni, came to the house and finished up her latest assessment of Ethan and we talked alot about Ethan's functional vision, what to do for his eyes, and the transition to preschool at age 3. Overall, Ethan is using what vision he has really well. Joni's assessments put Ethan's vision skills (not necessarily a measure of his vision according to an eye doctor) at around 1 year of age -- which is right around where his cognitive skills are. So what does that mean? Joni explained that it is a "good" thing to see the vision and cognitive skills be at about the same level for Ethan, because that means he really is using what vision he has to the best of his ability -- if that makes any sense.We will be continuing to work to help him make as much improvement as possible, because only the Lord knows Ethan's full potential is. We learned a bit more about the botox procedure that the eye doctor had asked us to look into for Ethan, and we decided it isn't something that we are interested in at this point. Joni contacted several doctors and other individuals who work with children with visual impairments and mostly got mixed reviews, at best.  If at some point Ethan needs the eye muscle surgery, I believe that we will go down that route, instead of do the botox procedure. We also discussed the transition to school and I am glad that Joni is going to be able to attend Ethan's next IFSP meeting (on Feb. 14th) so she can help express the level of services and support that Ethan will need in regards to his vision with our school district.

Tue. 1/29
Ethan got to go back to STEPS! He had a blast and had a great day. All the therapists and teachers were so happy to get their hands on him since he had missed the previous two weeks of school due to being sick! In the evening I got to meet up with several ladies that I had taught with at Eisenhower -- I love these ladies. We come from different backgrounds, are different ages, and all at different places in our lives right now, but it doesn't matter -- the friendship and comradery is the same. I am so thankful that my friend Stephanie puts together these dinners out for us. It was an evening of great food (Olive Garden) and friends.

Wed. 1/30
Ethan's hearing therapist, Julie, came to the house and she was able to cut and fit Ethan's new earmolds! It was great! Ethan has been tolerating his hearing aids so much better. She worked on accessing some of his hearing skills, we talked about waiting to hear back from Early Intervention to see if they would cover his new more powerful hearing aids (since our insurance doesn't like paying for hearing aids and audiology services) and about the transition to school and the services and supports he is going to need.

Then, after she left we got a call from Mr. Andy's office, and found out that our insurance was going to play nice and going to pay at least 80% of Ethan's AFOs so we set up an appointment for casting for Monday, Feb. 4th.

Jeff emailed me from work to let me know that all of the claims from Ethan's MRI and ABR back in November had been processed and that we didn't owe anything! This was a HUGE PRAISE! Our audiologist had been working to get our insurance to play nice for several months, and it paid off, literally. Thank you Dr. Brittney!

And then, that evening, Ethan's Early Intervention Service Coordinator, Judy, called to let us know that the request for Ethan's new more powerful hearing aids had been approved! PRAISE THE LORD!

It was a GREAT day of answered prayers!

Thu. 1/31
Ethan got to go to STEPS again! He had another great day with all the teachers and therapists. I got to call Dr. Brittney and tell her she could go ahead and place the order for Ethan's hearing aids! In the afternoon Ethan's feeding therapist, Terri, came to the house. Ethan ate really well for her, although he was VERY tired. We are so glad that we have been able to increase his feeding therapy and I believe we are making some progress -- even if it is really slow.

Sat. 2/2
Jeff and I celebrated our 7 year wedding anniversary (we were married on February 4th) with an afternoon out while Ethan hung out with his grandparents. We went ice skating! We only lasted 45 minutes and weren't very good but we had a blast and only fell down once! Then we had an early supper at one of the downtown restaurants we had never been to. It was a great afternoon/early evening.


Sun. 2/3
The whole family got to go to church! Ethan and I hadn't been in forever because of being sick. Ethan and I stayed in the nursery (I'm glad we were well enough to go since it was "my turn" to be a helper in the nursery -- although Ms. Tammy could probably handle 100 kids in their by herself without breaking much of a sweat. We LOVE Ms. Tammy) during the morning worship service. Afterwards there was a fellowship meal followed by a short Bible Study. I really enjoy Winter Bible Study! Then, we all headed home and we took a family nap! In the evening Jeff and Ethan headed to his parent's house for food and the Super Bowl and I headed to the grocery store. It was wonderful -- there wasn't hardly anyone in the store. :) After I took all the groceries home and unpacked, I joined Jeff and Ethan and got to visit with his parents, Jeff's cousin, Sarah, and her little girl, Grace. Ethan and I headed home before the game was over, but we had a great time.

Mon. 2/4
Jeff took an early lunch so he could join us at Mr. Andy's office for Ethan's AFO casting. Ethan is not a fan of casting, but he did really well. He fussed and fought a bit, but Jeff held him in in his lap, and we were done without any real tears -- which is a success in my book. It will take a few weeks for the AFOs to be made, and they will give us a call to schedule a fitting once they are ready.

We finally got the test results back from the blood work Ethan had done before Christmas. Good and bad news. We'll do good news first -- Ethan's liver function panel is really good (for him), almost normal, and the best it has been in months. The bad -- the VLCFA levels/ratios are no longer trending in the "right direction."  What does this all mean? I emailed Dr. Braverman, the specialist in Canada, who like all of the PBD-ZSD specialists/researchers is amazing. At this time she sees no reason to change the dose and we will stay the current course -- she doesn't not believe there is any cause for alarm/concern about the Cystadane being harmful -- although we still don't know if it is "helping." She also suggested that we do some additional blood work next time to check other things such as - bile acid levels, pipecolic acid levels, and even the betaine levels, to see if the dose is achieving the same level/concentration that they have seen in the lab, etc. So, overall, while I would have been much happier to have seen the "slight trend of improvement" continue I am not completely discouraged and neither is Dr. Braverman from her email. She still sounds enthusiastic about the start of an official clinical trial this summer (as am I)  --- one thing we all know is that every PBD-ZSD kiddo is unique and so I am looking forward to other families having the opportunity to see if this medicine is a step in the right direction.

Tue. 2/5
Ethan got to go to STEPS again! I stayed for a bit and talked with therapists. The PT and I talked at great length about working to get Ethan to hold on to his walker so we can move away from using the sling. She shared that she had turned the walker around and that he would hold on to it some that way. I was glad that she was thinking outside of the box. :) Ethan had a great day but was very tired, since he had woken up at 5:30am, so his teacher sent me a text a little after 11am and I headed back to school to get him. By the time I got there Ethan must have gotten a second wind because he was fine and he did great for circle time, etc.

Wed. 2/6
No appointments today! But we had a visit from my Grandma Chambliss. :) Ethan played and visited with his Great Grandma. Ethan hadn't seen her since Christmas, but that didn't seem to matter, he was just fine. I could tell that both of them enjoyed their afternoon together. I know I enjoyed the visit.



When Jeff got home from work we tried to get Ethan to hold on to the walker. It worked! See video here. We are very excited about getting one "step" closer to Ethan walking. :)

Thu. 2/7
Ethan went to STEPS! He loves school. :) Ethan started to get boogie again and started having a bit of a cough :( but he had another great day. Jeff went to the Illini basketball game, thanks to a friend who gave him tickets, and was expecting Illinois to lose to #1 ranked Indiana, but then Illinois WON! It was a good day!



As you can see, we've been busy. If you had asked me almost 3 years ago when I was pregnant with Ethan and we decided that I would be a stay at home mom, at least for a few years, while Ethan and any future children were young, what my days would be like, I would have never imagined that they would like this!

In addition to all the appointments over the past two weeks I've stayed very busy with GFPD work,  this week we published the Winter 2013 newsletter -- a major labor of love for me. I am so proud and honored that I can volunteer my time and love to this organization which has become a second family to me. It feels good to be able to "do" something that makes a difference in the lives of families impacted by PBD-ZSD. I may not be able to "fix" my son, but if I can be used to help connect families and make this journey feel a little less lonely, I will.

I have also been continuing to work on the Illinois Mommies of Miracles website. I started this group, formally called Central Illinois Parents of Children with Special Needs, over a year ago. A few months ago we changed our name and expanded to being a state-wide group for mothers of children with special needs and/or complex medical conditions when we became officially affiliated with Mommies of Miracles, the world's largest support group for mothers of children with special needs. Although my founder/admin duties of this group are not as expansive as my duties as with GFPD, they help to keep me busy for sure. I am going to be representing Illinois Mommies of Miracles at the 7th Annual Special Needs Informational Fair in Peoria next month. Illinois Mommies of Miracles now connects more than 250 moms across the state and more are joining each week. It is my desire and goal that our website would become a real hub for information and connectedness for special needs families in Illinois.

I've also had the opportunity to get in some great mall walking with my friend Melissa K. Melissa's little boy Mason and Ethan are buddies, and attend STEPS together. We met back in 2010 when I was first starting the parent group that became Special Connections. :) Mason, his little brother Wyatt, and Ethan seem to mostly enjoy are walks as well.

The rest of the month looks nearly as busy. Hopefully, as long as Ethan doesn't get/stay sick, he'll be at STEPS both Tuesday and Thursday morning next week. On Thursday after STEPS we will have Ethan's first meeting to begin the transition to the public school system. It is probably going to be a very emotional meeting as we hear reports of where Ethan is developmentally according to his therapists assessments, hear what goals from six months ago he has and hasn't met, talk about goals for the next six months, and the transition from Early Intervention to the schools system. We would greatly appreciate your prayers as we begin this process so that we can find a way to get Ethan the services he needs for the Fall. Please pray for the teachers and other professionals who we will become Ethan's team at the school. Please pray that the transition this fall will be as smooth as possible for both Ethan and us and the beginning of a new chapter of opening more opportunities for Ethan to continue to learn, grow, and advance.

In March I am going to be taking part in a panel discussion along with three of my fellow special needs momma friends, at MOPS. While I am pretty much an open book about Ethan and how his diagnosis has changed our lives forever, I am now much more comfortable in the special needs world. I don't feel like I belong in the world of happy, healthy, typically developing children where no one has to worry about their child's terminal diagnosis, or has a schedule filled with therapist and doctor appointments, or "get" what live is like when you are the mom of a child with special needs --- but I am honored that we have been asked to come and share a glimpse of our lives with the ladies at MOPS. I expect it to be an emotional day, but I hope that it will also be an informative one and that the moms we speak to will be more educated and understanding of moms like me and our children. I also pray that they will be able to talk to and model to their children that children with special needs are not to be feared, ignored, teased, or made fun  -- that they too wonderful and beautiful creations of the Father and deserve love, kindness, compassion, friendship, encouragement and understanding -- just like the rest of us. I would appreciate your prayers for myself and my friends (Melissa K., Ramee L. and Allison B.) and for all of the ladies who will be in attendance.

It is only just the beginning of February, but we are ready for spring. I know I can't really complain about the winter we have been having, since I do live in Illinois and we should have snow on the ground, but I still long for warm weather, opening up the windows so we can fill the house with fresh spring air, and for us to be able to enjoy walks outside as a family again.

Please pray for that Ethan would stay as healthy as possible for the remainder of the winter and that he and I will continue to find ways to fight off the cabin fever. If we can all stay healthy we are hoping to get in some playdates with some of Ethan's friends that we've not had a chance to do since before Thanksgiving due to all of the germs/sickness.

Thank you for your continued support and prayers.