August 30, 2012

STEPS - Day 2

The second day at STEPS was a lot better. I think we are going to be able to work out a schedule/routine that works for Ethan. No tears from Ethan (or me) this morning.

Today he had "free play" from 9-10am, PT from 10-10:30am, Speech from 10:30-11am, then he played a little and then it was time for all the kids to go to the gross motor room to play so Ethan went with them and stood in his stander for 25 minutes and played with toys 11:15-11:40am, and then we all came down for circle time 11:45-noon. Ethan started circle time in my lap, then he was done and he crawled/played and made his way to his speech therapist and they sat an clapped, played the drum and smiled along with all the other kids.

Now if we can only find a way to change his feeding schedule and still get all of our meds, food, and liquids in that he needs. He is drinking a bottle in the morning before he goes, but he won't eat there. When we got home today he refused to eat and take his meds for me but did take most of a bottle and fell asleep for a nap at 1pm. We'll see if we can get meds and some food into when he wakes up. Most of his meds he only gets once a day, but the betaine is a three times a day medicine and we need to make sure he gets that in each day.

August 28, 2012

Ethan's First Day of "School"

Today was Ethan's first day at the STEPS program, a local program for mostly 2 year olds with special needs. It was a really rough morning for Ethan and I. There were lots of tears and Jeff and I stayed the entire time 9am - noon. We will try again on Thursday -- it will just be Ethan and I the next time. Hopefully we can make this work and it can be an enjoyable and positive experience for Ethan.

I think one of the reasons that I was really overwhelmed is that it seemed like so many of the kids in his class are doing so much more than Ethan. There are nine kids in total and more than half are either walking independently or with just a bit of assistance. Almost all of the kids could sit in little rifton chairs for snack time and most are doing some form of self-feeding, some even with utensils! Almost all the kids sat in the rifton chairs for circle time at the end of the day with no problem and seemed to enjoy beating on the drum and the signing of songs, etc. I know that Ethan is very delayed, but it was so hard today to see when even compared to other kids with special needs how far behind he really is. Just another slap in the face about the reality of this horrible disorder and what it is stealing from Ethan and from us.

Please pray that we can find a way to make the adaptations needed at STEPS so that this can work for Ethan and be a really positive experience for our family. I think that Ethan can learn a lot of things, especially by having peer role models and learning that it is okay to be away from me, but I'm a bit concerned. I had very high hopes for the day, and things just didn't go as smoothly as I had thought that they would. We'll let you know how Thursday goes.

August 24, 2012

Eye doctor, blood work, and therapists, oh my!

It has been a busy week for the Marshall family. We typically stay pretty busy, but this week was a bit more busy than normal.

On Monday we headed to Champaign for Ethan's eye doctor appointment. Jeff's dad came with us and Ethan enjoyed spending some time with his grandpa. He was so happy that while we were waiting for the eye doctor that Ethan wore his glasses for nearly half an hour. As you know that is very unlike our Ethan.

It was an emotional appointment for me. As most of you know when we were there three months ago we got a new prescription for Ethan's glasses and were told that we needed to dilate Ethan's right eye "the good eye" to force his left eye "the bad eye" to work better. We have been unsuccessful at getting Ethan to wear his glasses, and because of that we made the decision not to dilate his eye. I knew the doctor would chastise us for the decision, but after talking with other PBD parents we felt that we had made an informed decision. We have continued to try to get Ethan to wear his glasses but we can't get him to keep them on and they make him hysterical for almost half an hour or more after wearing them for even a few seconds. 

So as expected, the doctor had some harsh words for us regarding our decision to not dilate Ethan's right eye. After I shed a few tears and a bit more discussion I decided that we would go ahead and try the dilation for the next three months. The one thing I can't fault the doctor for is that he is actually very optimist about Ethan's vision and his ability to have very functional sight. That is very encouraging because as a mom of a child with special needs I need people on our team that are optimist about the possible potential of my little man and see him as an individual and look beyond the PBD diagnosis while being realistic about the challenges he has due to the PBD diagnosis.

After the eye doctor appointment we headed down to the lab for blood work that had been ordered by Ethan's geneticist. We only did the non-fasting labs, which was still a full tube of blood, but Ethan did really well. The gals in the lab were able to get it on the first stick and although he was very upset -- more for being held down than for being stuck, I think -- he was okay once it was all over. We will go back after Labor Day for the other half of the labs, which will be early morning fasting labs. The labs we did on Monday included a liver panel, since we want to make sure that the increased betaine is not having a negative impact on his liver. The labs that will be done in September will include the VLCFA and other tests that we are hoping to see an improvement in, because if there are improvements that would be an indication that the betaine is doing something. We will keep everyone updated when we have more to share.

On Wednesday morning Ethan had speech therapy here at home. Ethan didn't want to work very hard because we made him mad by trying to get him to wear his glasses. He ripped his glasses off and after about twenty minutes he decided that he was okay after all and that he could work a bit. Then in the afternoon Ethan had hearing therapy. Ethan was napping when his his therapist arrived so we had some time to talk about Ethan's vision, hearing, his upcoming sedated MRI and ABR in November, hearing aids, cochlear implants, and Ethan's transition to the STEPS program. After Ethan woke up he played, 'talked" and even showed off his climbing, standing, and pulling up skills. 

Thursday morning we started out with physical therapy. Ethan has had the same PT for almost two years but yesterday was her last official visit because with Ethan transitioning to the STEPS program he will get a new PT. Our PT, who we love, reassured her that the PTs at STEPS are awesome and she knows them both well and that Ethan will be in good hands. I am so thankful that Ethan has had and continues to have such a great Early Intervention team. Ethan worked on his standing, his pulling up, and walked around in his walker -- which he is now officially too tall for. The PT is going to try to get a loaner walker from Easter Seals for Ethan. Part of why Ethan "pushes" himself in the walker is because it is too short. A taller walker will force him to straighten his legs more. Also, for the first time yesterday we saw that Ethan is starting to understand the concept of putting one foot in front of the other! This is a big and important concept he has to learn before he can learn to walk.

After PT we had a short little break and then it was time for vision therapy. We discussed the eye doctor appointment and Ethan played and explored new toys and a silver soccer ball that the therapist brought with her. Ethan loved this ball! He batted it, crawled after it, crawled with it, tried to roll it back and forth with me and the therapist, etc. The therapist left it with us, since Ethan liked it so much. She also dropped off a big mac switch. We are going to start using it to help Ethan learn the concept "all done." We have been saying and signing "all done" for a long time but Ethan still hasn't been able to sign or say it so we only know he is finished with something when he starts to get upset, throws the toy, etc. We can use "all done" and the switch for lots of different situations in everyday life -- meal time, playing, swinging, etc.

Here is what a big mac switch looks like. This isn't exactly what Ethan's looks like, but it will help you get a better understanding of what it is. When you push the switch it can say whatever you program it to say. Our's says "All Done."

After vision we had a little break and Ethan took a nap. He was actually still sleeping when the feeding therapist and the dietitian arrived. We discussed Ethan's eating and updated both therapists about the increase in the betaine and then we had to wake little man up. Ethan is growing! He weighed in at 24 lbs. and  7 oz. and is 34 and a 1/2 inches long! The dietitian is happy with Ethan's growth and if he continues to do well there may be a time in the not so far off future that Ethan can go begin to cut back on his Bright Beginnings (soy-based pediatric drink similar to Pediasure) and transition to regular soy milk. That would be great, but we have to keep Ethan getting balanced nutrition and growing before we can proceed with that plan. Ethan's nap must have put him in a good mood because he did great during feeding therapy. The therapist not only got him to eat pretty well for her he touched his applesauce and even tolerated her bringing a straw to his mouth, although he would not open for it. The feeding therapist will be seeing Ethan twice a month. I am very hopefully that we can begin making some real progress with Ethan and I believe that someday Ethan will grasp the concept of self feeding and that someday he will get to eat puffs, cheerios, and other toddler food and maybe someday he'll even learn to drink from a cup. Until then we continue to puree food and he eats a lot of applesauce, soy yogurt, and some stage 3 baby foods and drinks from a bottle.

It was a busy Thursday! We don't have anything scheduled for today and tomorrow my parents are going to come up for a visit. Ethan will enjoy getting to see his grandparents and I'm sure they will love it too. We are still trying to get Ethan to pull to standing on video. He has probably pulled to standing about a half dozen times in the last week or so but we just can't seem to catch it on camera. He is doing a lot of pulling to kneeling, and as he gets stronger he'll be able to pull to stand without such a struggle. Ethan has been on fire when it comes to gross motor skills since returning from the GFPD Conference three weeks ago. Perhaps we need to get away more. 

We are looking forward to Ethan's beginning of the STEPS program next week. A bit nervous of course, but very thankful that we are getting a "first day of school." Something that two years ago I was sure we'd never get, who cares that it is the first day of a two year old special needs program. I'm excited! I think it will be very interesting to see how Ethan does with all the other kids. 

August 17, 2012

Ethan pulled up!

Ethan pulled up on the couch into standing for the first time yesterday during Physical Therapy. He did it 3 times during the PT session!!!! We are so excited!!!

He did it once for Jeff last night and then one more time for Jeff's parents last night when they came by to visit. Ethan needs to be "bribed" with a toy he really wants, but who doesn't like a little incentive when it comes to attempting something that is really tough.

Not sure when we'll get proof on video, but I do have witnesses!

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

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.

August 8, 2012

Look what I can do!

Look what Ethan started doing today! His buddies in FL must have taught him how to do this because he has never tried this before!

2012 GFPD Conference - Part 1

We returned home from the 2012 GFPD Conference on Sunday afternoon. I haven't taken the time to write down all that happened during the week, but I will. Until then, a little look at my second family will have to tide you over. This is the opening video from the conference.