December 31, 2012
The Mom I Would Have Been by Dana Nieder
December 30, 2012
The Christmas season reminds us that God loved us (humanity) so much that the story that He gave of himself and that His son who was born in the most humble of settings through the most unusual and completely supernatural way grew up to be the man who died on the cross, and rose again, defeating death so that we may have eternal life and relationship with Him!
|Homemade Christmas cookies. Not pretty, but they taste okay!|
|Christmas Eve at Jeff's parents' house. Just visiting, opening gifts would have to wait.|
|Four generations of Marshall men|
|Christmas Day at my Grandparents' House|
|Christmas with the Jeff's side of the family on Saturday, December 29th.|
December 24, 2012
*Extra Special Prayer Request
Those who follow my blog know that we have had many little ones from my GFPD family pass away this year. While we had the honor of attending the memorial service for little Corey, there were many that due to the distance we were unable to go and embrace these loved ones in person. I would like to ask that you say a special prayer for all of my friends who are spending their first or another Christmas without their child, and for all families who live with the reality of a diagnosis that will always make them wonder, even while their child is still hear on Earth with them, if this will be the last. Thank you.
December 11, 2012
Ethan's nap time is typically the time in which I can get things done --- dishes, laundry, take a shower, do work for GFPD, and I admit that sometimes I just sit on the couch and relax for a bit. Today was a day that I had things planned for nap time. I've been working on a project for GFPD that needed to be completed, but Ethan didn't want to sleep today.
I let him cry for a few minutes before I went to rescue him when it became obvious that napping was not on his agenda. So, we curled up on the couch with a blanket and a silly Hallmark or Lifetime Christmas movie (don't remember which) and snuggled. Ethan isn't a snuggler, typically, so I just enjoyed the moment. I sang to him -- it was probably a good thing he had his hearing aids out -- and I told him how much I love him. We rocked a little, and I prayed for the millionth time for the Lord to heal my baby.
As Ethan fell asleep in my arms, I decided not to put him down. I knew I was right where I needed to be. Somehow I was able to successfully maneuver into a somewhat comfortable position while keeping Ethan asleep and there we were, for over an hour. My precious toddler, who is still truly a baby both inside and out, resting on my chest. Today nothing got done during nap time and that is okay. I know the reality of this disease, and that someday it will not be more time to get things done that my heart and soul will ache for.
I am going to steal this quote from the St. Jude's Children's Research Hospitals commercials - "Give thanks for the healthy kids in your life, and give to those who are not." So today, and everyday, please hold your kids (the healthy and the not so healthy ones) a little tighter and make sure you tell them how much you love them and thank the Lord for the time that you have with them.
And if you happen to have the ability to give a little extra to help make a difference for kids in need this Christmas season please consider doing so. There are many wonderful organizations that you can partner with to provide Christmas gifts for children whose parents' aren't able to this year and of course there are organizations such as St. Jude's Children's Research Hospitals, the Global Foundation for Peroxisomal Disorders (GFPD) and so many others that are trying find treatments and cures for children facing life threatening illnesses.
December 9, 2012
So, in the midst of all this sorrow, Ethan decided to brighten up our day. Tonight he decided that he was finally ready to start putting the coins in his treasure chest all by himself! We have been working on this for nearly six months. It may be a simple task for a typically developing child, but for kids with PBD-ZSD these are the type of things that we celebrate and shout for joy about! The fine motor and visual skills needed to do something like this are things that Ethan has to work so hard to be able to obtain. This made our day!
December 8, 2012
When we found out a couple of days ago that Jackson's homecoming was drawing near I wept. As I cried, Jeff held me tight and I cried, we prayed, and I cried some more. While my heart breaks whenever I hear of another one of our GFPD kid's passing, it is tougher on me when they are a family that I have met in person, and of course as I mourn for my friends' loss I also mourn for us and the reality of this ugly disease called PBD-ZSD that will someday take Ethan away from us is undeniable.
Jeff, Ethan and I had the pleasure of meeting Jackson's mom for the first time at the 2011 GFPD Conference in Nebraska, and then this summer at the 2012 GFPD Conference in Florida we got to visit again not only with Angie, but we also got to meet Jackson and his grandparents. Angie and her husband Travis loved Jackson with all of their heart and while I know that they know without a doubt that Jackson is with the Lord and that they will see him again, this hope does not diminish the pain that I can only imagine that they are feeling right now.
I've never met Millie's parents in person, just online, but my heart still broke when I heard the news today. I'd like to ask a special pray for their family as in addition to Millie's parents and the other adults who will miss her very much, Millie has several siblings who are mourning the loss of their sister as well.
I love my GFPD family and I cannot imagine this journey without them and while the majority of our sharing is online or on the phone, aside from the few short days of the GFPD conference when a number of us are able to meet together in person (all the time wishing that ALL of our families could be in attendance), we really do live this life together. This summer as we gathered and listened to the families who have been on this journey much longer than us, I almost had to hold back tears as they shared about the days before the internet and free long distance calls. When I start to think about how isolating it can be even now when it is estimated that only 80 kids are born with PBD-ZSD in the U.S. each year, I truly don't want to think of what it would be like if there was no real way for me to connect with another parent that "gets" it. We laugh, we cry, we share frustrations, challenges, and triumphs and in times like these we mourn together and for one another. Regardless of where along the PBD-ZSD our families are personally, we grieve and our hearts break when we learn of another family whose little one has passed away.
|Jackson, March 3, 2007 - December 7, 2012|
|Millie, November 21, 2006 - December 1, 2012|
- Please pray for Jackson and Millie's families.
- Please continue praying for all families who have lost children to PBD-ZSD and for those whose children are still fighting the PBD-ZSD battle day by day.
- Pray that real treatments and a cure will be found! Please don't stop praying for miracles! We haven't, and although we know it may not be God's plan to miraculously heal Ethan, I'm not going to stop asking, but even if that doesn't occur, I will not turn my back on Him.
- Pray that those who do not know the Lord would come to know Him and the peace and assurance that only comes from knowing Him as their personal Savior.
- Pray that the Lord will continue to work in our lives and that He will give us the wisdom, strength and patience needed to be the parents Ethan need.
- Pray that our lives would be a testimony and used for the Lord's purpose and glory.
December 2, 2012
So, on Monday I began documenting all of his intake again. It is one thing for us to "feel' like his intake is down, but we really needed to know exactly how much, etc. I began talking with my network of special needs mommas -- local friends as well as my GFPD family. With their help we talked through lots of the issues that Ethan has about food, the cognitive, fine motor and oral motor skill delays that impact Ethan's ability to eat, the stress of the situation, his behavior during meals, and possible things to try, etc. The majority of children with PBD-ZSD have some issues with eating, although not all. Most of the things mentioned were things that we had already tried and/or are things that we do not have the ability do with/for Ethan at this point in time. The brainstorming of ideas and the support that I got from these women was amazing as they shared their own struggles and successes with something that so many take for granted ---- feeding your child. One thing that came back up several times was the concern that Ethan might be having reflux. Ethan has been off of his reflux medicine for nearly a year, but by Wednesday we were ready to do almost anything, so we put him back on it. We knew it couldn't "hurt" to try. I was sure it wasn't reflux. We've never had any real sign of reflux. Ethan was put on the medicine shortly after birth because of his difficulty eating and gaining weight, but he's never been a kid that really spit/threw up so we took him of of it nearly a year ago since he was eating so well. While there is no easy way to know if Ethan has indeed been suffering from reflux, we do know that by Friday Ethan seemed to be eating a lot better. Not great, necessarily, and his behavior in the high chair is still pretty horrible, but he was opening his mouth again for the spoon and even clapping his hands (signing "more") during meal time for the first time in weeks!
So, of course I feel like I need to pin a ribbon to myself that says "world's worst mom" because if it is indeed reflux then I could have been giving him medicine the last several months that would have given Ethan some relief, but minus some invasive testing that I do not want to put Ethan through, there is no way to really know, since he can not tell me what is wrong. Ethan's lack of communication continues to be one of the biggest daily struggles for me. He has no words, and very few signs -- he claps his hands, he can sign "eat" and "milk" although he does not use them often. So, besides crying there are very few ways for him to "tell me" what is going on. We continue to work with all of his therapists to try to give Ethan every opportunity to develop his communication --- sign language, talking, using objects, etc. but at this time we aren't seeing any improvement. On top of all of this is Ethan's newest "development" hair pulling. He is pulling his own hair so hard when he gets upset/frustrated/mad that he is pulling it out! Besides holding his arms and hands where he can't do it, which in turns makes him even more upset, we haven't been able to stop it. So, if you are someone who sees Ethan in person, you'll know why he is now missing more of what little hair he did have.
Thankfully, he is at the moment eating and drinking better. Still not great, but for at least the time being the scare seems to be over. We know that this will most likely continue to be a constant battle, but we feel so blessed that for now perhaps the reflux medicine has helped.
In addition to the really tough week or so in the feeding department Ethan is sick again! I got the call on Thursday while Ethan was at STEPS to come get him because he was feeling warm and was very flushed and lethargic. So I brought him home and he took a good nap and by the end of the night the yellow boogies were here in full force. We've been fighting them all weekend, and while at the moment it seems like we may be gaining ground in the boogie battle, we are far from winning the war.
There are so many frustrating things about the impact of PBD-ZSD on Ethan and our family and I will admit to having days in which I am completely overwhelmed by it all and on other days I think I've at least got it mostly together --- when Ethan gets sick, even with a common cold, the reality of PBD-ZSD hits me hard. In addition to all the challenges it causes Ethan and all the things that it steals from him and us as a family, I get so mad that a simple common childhood illness can very easily and quickly become disastrous for my sweet little boy. So, if you don't see Ethan and I again until Spring, you know why -- we are hiding from the germs. We are praying that this will be the winter that we are able to not be hospitalized. It isn't that we don't love the nurses on the pediatric floor at St. Mary's but still, all things considered we'd really be okay not visiting with them this winter.
Since Ethan isn't feeling well he refuses to keep his hearing aids in, which is adding another layer of frustration to daily life in the Marshall house. With his hearing aids in he can hear pretty well, but without them he can't, and so hearing our voices, his toys, etc. aren't as enjoyable. I can't wait for him to feel better so that he'll keep those hearing aids in again! I want him to have access to the sounds around him.
Thank you for your continued prayers. We'll continue to keep everyone updated.
November 26, 2012
Please pray that we will find a solution.
November 22, 2012
November 20, 2012
|3:30pm -- We made it -- so glad to be home!|
|7am - The radiology waiting room. Ethan has no clue how long of a day it will be.|
- 500 Hz - 50 R/L
- 1000 Hz - 65 R/L
- 2000 Hz - 75 R/L
- 4000 Hz - 70 R/L
Here is a picture to help explain where Ethan's hearing is without his hearing aids.
November 18, 2012
- I am so thankful for how far science/medicine has come in the last 30 years.
- I continue to be amazed how far science/medicine still needs to go and how little is known about and/or can be done to treat so many diseases (like X-ALD, PBD-ZSD, and so many others).
- I will continue to be absolutely furious that there are boys who have been diagnosed early enough (before they become symptomatic) with X-ALD, that treatment with Lorenzo's Oil could possibly hold off the progression of the disease but they are unable receive this treatment because the FDA still hasn't approved it. There is an ongoing clinical trial but only around 75 to 100 boys are able to be involved in it at any given time --- and with budget cuts there is concern that the funding for the trial won't be available for much longer. To put this into perspective: X-ALD is estimated to have a prevalence rate of 1 in 20,000 individuals which means that since there were just over 4 million children born in the US in 2008, that more than 200 people are born with X-ALD each year in the USA. While women who are the "carriers" of the disease and do not have the same types of symptoms that males experience, many women begin have a number of health issues later in life due to the disease. Lorenzo's Oil is not a cure, and isn't effective in stopping the progression of the disease in all boys, but it can provide a glimmer of hope for families and it just hurts my heart that all of the boys do not have access to something that could save their life! In addition to Lorenzo's Oil bone marrow and/or cord blood transplants are now options for some boys with X-ALD but again are the most effective if done prior to the boy developing the neurological symptoms (damage to the white matter in the brain.)
- I will continue to fight for the newborn screening that will identify boys with X-ALD and children with PBD-ZSD & DBPD! You can learn more about the fight for this newborn screening here.
- I am so very blessed to be a part of The Global Foundation for Peroxisomal Disorders (GFPD) and that we have an amazing team of physicians and researchers who believe that there is something that can be done to help our kids (even if it hasn't been discovered yet) and that our kids and families are simply not a number to them. We have had so many pioneers in our group. From the families who had children in the DHA studies over 10 years ago, those who have been/are part of the Bile Acid study, those who have courageously fought for the best quality of live for their child (no matter how much time they are here on this Earth), to the families who are looking to participate in the Betaine study in the near future and to all of the parents who have been on this journey long before there was a GFPD. And of course I don't want to forget to honor the countless numbers of families that were changed forever because of PBD-ZSD long before the doctors even had a name for the disease and all that these families knew is that their children had so many health and developmental problems and no one could tell them why (and acknowledge that this is still happening today in many parts of the world). I am so proud to be part of such a brave, strong, and amazing family. GFPD is so very dear to my heart.
- While GFPD is the main voice for the PBD-ZSD community there are other parents just like us that are fighting for the lives of their children who are impacted by other rare diseases and that we never know when a "breakthrough" in treatment for another disease might give insight for treatment options and hopefully someday a cure for PBD-ZSD.
- While today I fight for Ethan and all the children currently living with PBD-ZSD, I understand that all of this might be indeed more beneficial for the children who are not yet even born. I realize that real treatment options and a cure may not be in Ethan's future, this side of heaven, but that isn't going to stop me from working to make a difference for those who are here now, and the families like mine whose lives have been forever changed by this diagnosis. We aren't going to stop searching, supporting, and praying for treatments and a cure!
November 15, 2012
Over the past week the cough and boogies got a lot worse and Ethan hasn't been eating or drinking well. So this morning when he woke up and still didn't seem to be much better I called the doctor's office to get back in. We got an appointment for the afternoon. Ethan is now on antibiotics and hopefully he will be feeling much better by the end of the weekend. We will have to make a decision about the ABR and MRI on Monday, so we want Ethan to get better soon!
I also had a great conversation today with Ethan's endocrinologist. She has been working hard with us to make sure that Ethan gets the correct stress dosing for the sedation/ABR & MRI next week. She is a wonderful member to our team.
|Yesterday was a PJ day for Ethan.|
November 14, 2012
November 13, 2012
1) Vicks vapor rub on his chest to hopefully help clear up all the junk.
2) Children's (not infant) ibuprofen now that that he is several months over the age of 2 and just last week hit the 25 pound mark!
November 7, 2012
|Ethan's beautiful curls. I'm pretty sure he won't grow anymore back.|
|After the cut. I've got a few places I need to try to fix tomorrow, but hopefully I didn't mess it up too much.|
- Looking for a Christmas gift or a special treat to share at your Christmas party? Check out Tolmie Toffee --- they ship anywhere in the US! All proceeds are donated to PBD-ZSD research. The Tolmie's son, Dane, passed away from PBD-ZSD in 2010. You can learn more about the Tolmie's story on their website.
- Are you planning on shopping online? If so, please consider using Good Shop and a portion of your purchases will be donated to the Global Foundation for Peroxisomal Disorders. You can also use Good Search everyday to raise money for the GFPD simply by searching the internet.
November 2, 2012
|Sofia, June 20, 2012 - November 1, 2012|
November 1, 2012
After returning home from the eye doctor we waited for Jeff to get home and then we got Ethan into his Halloween costume. I ordered the dinosaur costume from Carters but when it came in the mail it looked more like a dragon than a dinosaur --- so we decided it could be either. We went to our church's Eats Before Treats and saw friends and some of our family and then visited Jeff's grandpa. The turnout for the event at church was awesome. They actually ended up running out of hot dogs about 10 minutes before it was supposed to end.
So, after a nice end to October, the first day of November started out great -- I didn't have to put the drops in Ethan's right eye, he drank his whole bottle and I got him off to school. While he was at school I jogged 2 miles, went home and got cleaned up and ready for the day and enjoyed a cup of coffee. When I got to school today to pick Ethan up his teacher shared that Ethan had an amazing day. Besides having his first kiss -- he kissed his little friend Lilly!!! He ate a whole 6oz. jar of stage 3 baby food and several oz. of applesauce, sat in the rifton chair without any problems during feeding and speech therapy, stood in his stander for 20 minutes, played and had a great time, never pulled his hearing aids out, his teacher swears he was saying 'hi' all morning, and then when we got ready to leave he "waved" --- open and closed his hand several times to say "bye" to Lilly! I'm not sure if he was just doing it all to impress a girl, but I'll take it! I am so glad that we chose to get involved in the STEPS program. :)
October 30, 2012
October 25, 2012
As a parent of a child with hearing loss in addition to other challenges because of PBD-ZSD, I can tell you that Ethan having hearing aids (and possibily cochlear implants someday if his hearing gets to a point that hearing aids can no longer help) is not "cosmetic," it is a neccessity.
Please consider signing this petition and letting the state know that insurance companies should be required to cover hearing aids for children. The leadership team behind the petition has a meeting set with an Illinois elected official, but we would really like to have 1,000 or more signatures on the petition before then. Thank you for signing and for spreading the word. https://www.change.org/
October 22, 2012
October 21, 2012
You might notice that this is another new walker. The gold walker that was given to us by our friends in Tulsa wasn't really any taller than the other one we already had, so we ended up having to buy a different one. Thankfully we had a bit of money left over from the money we were given this summer from the Mt. Zion Community Ice Cream Social so we used part of it to purchase the walker. The funds that we were given have been a huge blessing to our family.
This afternoon we took the walker outside here at home and played in the driveway. We are loving the amazing weather!
October 13, 2012
Are these findings enough to say that the medicine is "working?" I'm not sure we can say that yet, but for now, we can assume it isn't "hurting," and we will be continuing Ethan at the current dosage --- not sure when we will check levels again to see if the "trend" is still occuring, probably in a couple of months. Please continue to keep Ethan in your prayers and all families impacted by PBD-ZSD. Pray that the proposed clinical trial will soon be underway so that other children will have access to this medicine -- because what if it is helping? If it is, we want as many families as possible to have access. No, it isn't a cure, but if it could mean that individuals with PBD-ZSD have a better quality of life, it is a huge step in the right direction!
Okay, so they tested a bunch of different things and levels, but the C24/C22 and C26/C22 ratios/levels are the ones that the doctors seem to be watching the closest because Dr. Braverman said in an email to me that, "these ratios seem to be the most sensitive indicator for VLCFAs."
Ethan's C24/C22 levels
- December 2011: 1.865
- April 2012: 1.606
- September 2012: 1.407
Normal controls are 0.84 +/- 0.10 ----- so you can see that while it is only a slight trend, it is getting "closer" to normal.
Ethan's C26/C22 levels
- December 2011: 0.353
- April 2012: 0.199
- September 2012: 0.187
Normal controls are 0.01 +/- 0.004 ---- again, you can see that the trend is an improvement even if they are still a long way from normal.
So although it is only slight improvement there is a trend of improvement so that is very encouraging. Overall, I'm very happy! Please keep praying for Ethan, and all the children and families impacted by PBD-ZSD.
October 12, 2012
October 9, 2012
Please continue to keep Ethan in your prayers and all families impacted by PBD. Pray that the proposed clinical trial will soon be underway so that other children will have access to this medicine -- because what if it is helping? If it is, we want as many families as possible to have access. No, it isn't a cure, but if it could mean that individuals with PBD have a better quality of life, it is a huge step in the right direction!
October 1, 2012
The crib has now been moved to the very lowest level. Jeff did it this evening right after he got home and heard the news. Hoping it will buy us another week or so until we decide what we are going to do next. I think we'll probably be looking into a tent to go over a mattress on the floor. Safety has to be our number one priority.
September 25, 2012
September 24, 2012
Brooklyn family fights to pass ‘Aidan’s Law’ which would require screening newborns for rare brain disorder ALD
Read the article: Brooklyn family fights to pass ‘Aidan’s Law’ which would require screening newborns for rare brain disorder ALD
September 22, 2012
Regardless, Ethan seemed to have a blast "walking around" at church, especially down in the fellowship hall where he had tons of space to explore. He is getting better and better at putting one foot in front of the other. There were a few "misty" eyes from some of our church family when they saw our little man in his walker. While we know that most of our church family admits they "don't understand/get it" it is still encouraging to know that so many people love and pray on a regular basis for our little guy. We are blessed to call First Baptist Church in Mt. Zion, Illinois are church home.
September 21, 2012
September 17, 2012
September 16, 2012
Ethan started looking sick yesterday while we were in Mt. Vernon attending my Great Grandmother's funeral. Great Grandma was an amazing woman of faith who loved the Lord and her family. She had been ready to "go home" for many years. She was 99 years old, and although she had been in the nursing home for several years and had a lot of trouble remembering who people were in the last few years, she never forgot the old hymns that she played on the piano and organ at Marlow General Baptist church for the majority of her adult life. Most often she was accompanied by my other Great Grandma who went to be with the Lord when I was pregnant with Ethan. I consider myself very blessed to have such amazing examples of strong, determined, women of faith growing up. I have visions of these two ladies now in heaven with the Lord and so many of their loved ones who went before them.
We made sure to take Ethan's cortef (steroids) with us and we've been stress dosing Ethan since yesterday morning. He is still full of yellow boogies and is a bit warm, but seems to still have energy to play and climb (as seen above). I am very thankful that we saw the endocrinologist on Friday. We'll have to wait a few days to do the retest since the results would be off since Ethan is currently on the cortef, but that is okay. We'll get it done once he starts feeling better.
On a different note, Ethan seemed to eat better today than he has in weeks. He has still be drinking his bottle but hasn't wanted to eat any solids/purees. Today for lunch he had a bit of homemade chili - I made it with ground chicken instead of beef hoping that Ethan would at least give it a try, and he seemed to like it. He then had some peach applesauce that had a few tiny pieces of peach in it. Then for dinner he had some mandarin oranges, and instead of pureeing them like I usually do I cut them into tiny little pieces and he seemed to do just fine! I'm so proud of my little man.
With a prevalence rate for Adrenoleukodystrophy (also known as ALD and/or X-ALD) estimated at 1 in 20,000 that means 206 children were most likely born with ALD that year and PBD (including DBPD) has a prevalence rate estimated at 1 in 50,000 so that means most likely 82 children were born with PBD (and/or DBPD) just that year as well.
Early detection and treatments such as Lorenzo’s Oil, a modified diet, treatment for adrenal inefficiency, bone marrow and/or cord blood transplants can give boys with ALD and their families hope that only a few decades ago was not possible in light of this diagnosis.
Although at this time, treatment for PBD-ZSD and DBPD are symptomatic, an early and correct diagnosis makes a difference for families. Many families wait months and even years before receiving a diagnosis of a PBD-ZSD or DBPD- many receiving multiple incorrect diagnoses along the way. If children were identified at birth families will not have to undergo months and years of searching for the cause of their child’s delays and health issues. Families will also be able to work with their medical team to be proactive in the treatment and intervention of hearing loss, vision loss, seizures, bleeding issues, adrenal insufficiency and any other symptoms that arise.
Additionally families who have a child who has been identified to have ALD, a PBD-ZSD, or DBPD through a newborn screening will also be aware of their carrier status and thus be able to make an informed decision about the risks and options for future family building.
The Global Foundation for Peroxisomal Disorders is proud to show their support for the ALD newborn screening test that would identify ALD, PBD and DBPD! If a movement towards adopting the ALD newborn screening is happening in your state, please consider showing your support. Legislation has already been introduced in New York and New Jersey. To learn more please visit The Stop ALD Foundation website.
Also, if you or anyone you know is thinking of getting pregnant please check out the carrier screening test by Counsyl. The test screens for carrier status of over hundred different genetic disorders. While the test can not "catch" everything, it can provide very useful information so that a couple can understand their risks and options for family building. Jeff and I had never heard of anything like this. We knew that individuals could get carrier tested for certain disorders if there was a family history, etc. but we had no idea that something this important was widely available. We have encouraged our siblings to be tested prior to starting a family. For my siblings they will also need a separate test to screen for my PEX 1 mutation since it is not common, but I hope that they will also consider a test like the Counsyl test that will also provide them with more information. Jeff and I never thought it could happen to us. We love Ethan so much, please don't think that we don't. That isn't why we are advocating this, but we know that information can be powerful. For us we knew that if we couldn't have children naturally, we would adopt. If we had known before hand that we had a 1 in 4 chance of having a child with PBD, we could have had a discussion about whether or not we wanted to "risk" it or proceed with building our family via adoption.
September 14, 2012
We left with a prescription for cortef to be used for stress dosing if Ethan gets sick before we do more tests to determine if he needs a daily dose. She is going to touch base with Dr. Raymond him before ordering the next test to double check levels and make recommendations from there. We were in agreement that we have to get this taken care of before his sedated ABR and MRI in November because anaesthesia is a major stress on the body and that Ethan should be stress dosed for the procedure to do all that we can do to avoid an adrenal crisis. So, the issue hasn't be fully addressed yet, but a plan is in place, which makes me feel much better.
Thank you for your continued prayers!
Dr. Green is amazing! She called me personally, not her nurse, to say she had already been in touch with Dr. Raymond (our appointment was this morning at 9am) and they have a plan. We'll do another ACTH and Cortisol draw on Monday morning here in Decatur. Once she get the results we'll either continue with stress dosing for illness or we'll go on a daily maintenance dose.
September 11, 2012
Yesterday we went up to Carle for blood work. Ethan has been on the higher dose of Cystadane (betaine) for a month now so we wanted to check to see if it has made any positive impact to his VLCFA levels and there were a few other things that needed to be checked including his Vitamin D level and his ACTH levels (we check ACTH every 5 to 6 months because most children with PBD develop adrenal problems at some point in time).
This morning while Ethan was at school I got a call from our geneticist and his nurse. I left Ethan at school for the first time today and he did great, but that is for another post. They called to let me know that two of the labs had come back so far and the rest were still pending and would take a while, some like the VLCFA will take several weeks. Well, the test showed that Ethan has low levels of Vitamin D. He already takes a multivitamin and gets additional Vitamin D from his Bright Beginnings Pediatric drink, but we are going to need to do an additional Vitamin D supplement. No problem, we can do that! Vitamin D is important so I'm glad we know that he needs more because his body is obviously not absorbing it correctly because of PBD.
Then, this evening just after 5pm the geneticist called again. Ethan's ACTH came in at the end of the day --- at 373!!!! He was at 23 on April 30th (normal range is 7-63). He is calling the endocrinologist in the morning and going to try to get us in this week. I am in shock and disbelief. This is why we have this checked every 5 to 6 months, but Ethan's levels have always been amazing, and now for them to jump like this my stomach is all in knots. I'm hoping that we'll have a script for cortef (steroids) in hand and filled by the end of the week. Please pray that we'll be able to get in ASAP and that they will help us get this addressed. Ethan has been doing such amazing things this past six weeks and I'm scared of what an adrenal crisis could do to my little man. I'm not scared about the extra daily medicine and stress dosing that we'll need to do. I have seen the steroids do wonders for many of Ethan's little friends, but I am am terrified about the possibility that if we don't get this treated soon enough that it will lead to a regression and loss of skills and the progression of the disease.
Please pray that I would have peace and that the endocrinologist will get us in ASAP and will have the wisdom to do what Ethan needs to stay as healthy and happy as he has been. I'm not sure I've been this worried/scared about my sweet boy in a while. This is like a huge punch in the gut by PBD.
September 7, 2012
Please take the time to sign this petition.
September 5, 2012
August 30, 2012
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.