This week Jim, Zack, and I made another trip to Boston Children’s Hospital. Zack is not currently “sick”, but he is still having lots of issues with high outputs and electrolytes. Zack’s surgeon in Boston and our doctors in Maryland felt it would be worth driving up to see the Center for Advanced Intestinal Rehabilitation to see if they had any new ideas that might help us control Zack’s output.

Our first day here was spent meeting with Zack’s surgeon. While we love the care Zack receives at Walter Reed, the nature of a military hospital is that doctors leave, get deployed, and retire. Zack’s surgeon in Boston has known Zack for five of the six years he has had an ostomy and has performed four of his ten surgeries. It is important to us that she remain involved in Zack’s care as she knows his history extremely well, thinks about him when we are in Maryland, and talks about his wonky intestines to her colleagues to try and find new ways to help him.

We discussed several things with her. We talked about Zack’s weight and the issues we have been having keeping that up. Even though his weight is not great, he has grown taller and that made her pretty happy. We discussed her thoughts on Zack’s high output and some theories as to what might be causing them. We also talked about Zack’s intermittent obstructions and what to do about them.

After our visit with Zack’s surgeon, we headed to the lab where he had about ten vials of blood drawn for his visit today. In a most awesome turn of events, Zack did not fuss during his blood draw. He was a bit vocal about making sure they were going to use a butterfly needle, but did not fight getting the blood draw. Jim and I were able to breathe easier after that.

Today we met with the team from the Center for Advanced Intestinal Rehabilitation. This team usually works with children with short gut. Short gut means that the patients have very little intestine left in their body. Zachary has a lot of intestine left, but his output is similar to children with short gut.

Our visit was very interesting. In anticipation of our visit, the team gathered a lot of information from Walter Reed and Cincinnati and reviewed it. When we arrived, we met with one of their nurse practitioners and one of their dietitians and went over Zack’s history in detail. It took about an hour and a half to go over all of this. If nothing else, this team has a very complete picture of Z’s history.

Once we completed that, the doctor came in and we discussed lots of things. We talked about possible causes for Zack’s intermittent obstructions and needing to take a closer look at them before starting any new medication to try and slow his output down. The fear is that trying to slow Zack’s output down if he indeed has two narrowed areas in his intestines would really obstruct him. To do this, Zack would need to have another endoscopy/colonoscopy, a procedure called a stomagram (putting dye through his ostomy to see how it moves through the intestine), and an abdominal ultrasound to rule out a peristomal hernia. All of these tests can be done at Walter Reed. IF these narrow areas are thought to be contributing to Zack’s outputs, they will need to be fixed surgically. Don’t tell Zack.

Side note: When we got to this part of the discussion, Zack started getting angry. However, when asked if he wanted to leave, he said yes! He was then able to leave under control and hang out with staff in the waiting room. It appeared he had a great time.

The doctor also suggested redoing manometry of just the small bowel to see if this could be a reason for Zack’s high output. Jim and I are not sure how we feel about that. Historically, manometry and Zack do not go well together, but we are willing to discuss it further. The doctor said that he would want to run this by his colleagues before making the decision to move forward with this test.

Another suggestion was to look into changing Zack’s formula. He has been on his current formula for several years. It has a high osmotic concentration which could be increasing his output some. Changing to a formula with a lower osmotic concentration may be beneficial.

We also discussed Zack’s ACTG-2 genetic finding. The doctor felt confident that Zachary’s main issue is chronic intestinal pseudo-obstruction. Because of this diagnosis, he feels that Zack really should be seen back in the GI clinic that specializes pseudo obstruction/motility as they might have some other thoughts. Zack met with them three years ago, but at that time he did not have the ACTG-2 finding. Evidently, this diagnosis changes some things about managing his case and the pseudo obstruction clinic might be better able to handle these things.

One good thing that we learned is that chronic intestinal pseudo obstruction varies in severity. Zachary is lucky in that his version of this disease is not the most severe type. However, as the doctor said today, it isn’t an easy version either.

During our time in Boston we were also able to reconnect with friends from our time at the Ronald McDonald House in Cincinnati. Their son just had an incredibly tough surgery and we were able to see them in the ICU. Zack and Kayra are now connected on Roblox and have spent quite a few hours playing online together already. (Don’t judge. Electronics are life savers during hospital stays/appointments.) Seeing our friends was one of the best parts of our trip.

And so the mystery continues…..but at least we have a plan to investigate more things and new eyes on Zack’s case.

Hug your babies!



On Monday, Jim and I both came down with a stomach bug that knocked us out. As ileostomy parents, nothing strikes more fear into our hearts than a stomach bug. Except obstructions, and prolapses….maybe it would be more accurate to say that stomach bugs are one of the things that strike fear into our hearts. Stomach bugs usually mean a trip to the ER for fluids and sometimes an admission. We tried really hard to keep our germs away from Zack……..

Sadly, Zack came down with what we believe is the same virus on Tuesday. He wasn’t throwing up, but his output was out of control. Zack’s output is always higher than normal for an ileostomy. He averages between 1,200 – 1,500 out daily. This is higher than it used to be for some reason. He goes above 2,000 once or twice a month. Last month he hit an all time high of 2,850. It could have been March….I don’t know, I am tired. At any rate, recently he hit 2,850 ml of output in one day and that was pretty darn high. We took him in too make sure his serum sodium was doing okay and we were pleasantly surprised to learn it was 138! Anything 135 or higher is considered normal.
Zack should be the poster child for CeraLyte. It has literally saved his life several times over. Anyway, he was still given fluids to help offset his losses and we were on our way.

On Tuesday, Zack hit 4,000 ml of output in a 24 hour period. That is the same as 2 – 2 liter soda bottles of soda. That’s a gallon of poop out of his skinny little body! We were in contact with his doctors and Dr. Sarah, our neighbor, came down to check him out. His heart rate was 108, his blood pressure was 105/56, his eyes were sunken, he was sitting quietly on the sofa and generally not acting Zack-like. My mama radar was not happy, so we all decided to take him in to be seen and to get IV fluids.

Zack’s serum sodium on Tuesday was 133. That is considered low, but with the volume of fluid flowing out of his tiny body it felt like a great number. His urine sodium level was undetectable, per usual. Another ratio was also off, possibly his anion gap ratio for those of you medical people. I am not really sure, but they could tell he was dehydrated and wanted that ratio to be back in line. Two boluses of fluid later, his serum sodium was back up to 136, the ratio was better, and we all felt comfortable bringing him home with the stipulation we see his doctor in the morning. I mean, by that point it was 4 AM and technically already morning, but whatever.

We got home and crawled into bed at 5 AM. By 6:30 AM, Zack’s output was already 1175. The rest of yesterday was spent on the sofa. ZP actually took two naps and took himself up to his room and went to sleep for another 1/2 hour. Um. Have you met Zack? He does not just sit. He never naps unless he is really sick. His eyes looked bad. Everything was making me worried. At 5 PM I decided to stick him in the shower to see if that might help him feel better. Here is how he looked then:

Jim and I were both concerned. However, by some miracle, he felt so much better after that. He had some spunk and even got in trouble for something silly. We were feeling much better and convinced his illness was on its way out.

You know there is more to this story, right? Overnight Zack had 550 out at 2 AM. At 6:35 he had another 725 and by 9:30 this morning he was at 1950 ml of output. Here is the crazy thing about Zack. He is not acting overly sick. He’s still on the sofa, but has some spunk back. His eyes look a bit better. Here’s a picture from this morning. But the output……

Jim and I were so conflicted about the best course of action. We texted his GI, but he’s got a life, a job, and other patients, so we are still waiting to hear from him. His pediatrician and I came up with a plan for now. Given Zack’s dislike of hospitals, we are going to hang out here for a bit, continue rescue dosing with CeraLyte, measuring everything that comes out of his body (including urine) and everything that goes into his mouth. If it becomes too much for us to handle, we can admit him and have the doctors take over the monitoring for us. My threshold for that is how quickly his output gets to 3,000 ml out and/or he becomes lethargic.

My mind is blown that our new self-imposed threshold for output is 3,000 ml. His doctors have taught us to trust our instincts and we have been doing pretty well with that. We now go by symptoms more than output, whereas before we went by mostly by output. One fear his doctors have expressed is that Zack may become so used to being low sodium that he will not realize when he is in trouble. Happily, everyone believes this current craziness is due to gastroenteritis and will eventually pass.

Another thing we discussed is that Zack’s daily outputs are continuing to become higher. His output has always stumped his doctors. What Jim and I do not know is if this means his disease is worsening or if it is an incidental finding. I mentioned in my last post that we are hoping to head to Boston to see a doctor who works with kids who have short bowel syndrome. That is still our plan. We are just waiting for the insurance referral to be authorized, the doctor in Boston to have an available appointment, and the stars to align. Until then, we are hoping this stomach bugs passes quickly and that we are able to manage his sodium levels well.

Hug your babies!

~ Dawn

Special Olympics 2019

Last week Zack participated in his last Special Olympics as an elementary school student. It was a fun day and this post is a photo journal of his day. Enjoy!

Aunt Becky and Ronnie drove up from Virginia to surprise Zack. They are the best!

Zack entering the stadium. He was just a little excited.

Zack’s classmates and teachers made signs for him that I have been instructed to keep “forever and ever.”

Zack’s coach, Mr. Tozer, making a Freedom Elementary School sign for the parade of athletes when we realized ours was missing. Mr. Tozer has coached Zack every year that he has competed. We will miss the way Mr. Tozer encourages Zack both at Special Olympics and at school.

This picture was taken from the Carroll County Times website of Zack and his entourage walking in the opening ceremony parade. We are grateful for all who came to support him this year.

Tennis ball throw. Mr. Tozer said that Zack threw 10 FEET!! farther than last year. Zack was more excited about his gold medal.

Gold Medal for Zack!

Zack’s 100 meter dash. He was pretty tired at the end, but kept on going!

100 meter dash medal ceremony.

Long jump. Zack was excited to see his Aunt Amy working as a score keeper at this event.

And now a few pictures of most of the people who came to cheer for Zack. I did not get one of his teacher, Mrs. Jensen, who has taught Zack for the past six years. I also missed getting a photo of Jim and my high school teachers for Germany, Mr. and Mrs. Manuel, as well as Mr. Reid and Ms. Elizabeth! Thank you all for cheering for Z!

Dan, Abby and Ms. Randi.

Ms. Karen! We had fun seeing you and cheering for Everett!

Ms. Cindy and Ms. Sarah came to cheer on their day off! We love them.

Ms. Carrie!

Some of Zack’s 5th grade classmates. They were the best encouragers!

Aunt Becky, Ronnie and Grandma or as they like to be called, “Team Zack.” It was extra special to have them there since Dad had to be away on business.

Zack had a wonderful day. If you have never seen or volunteered at a Special Olympics event, I encourage you to check it out. I promise you that it will be the best thing you have seen in a long time. I leave you with a picture of Zack from behind. I think this shirt says it all!

Hug your babies!

~ Dawn

Learning Disabilities

When Zack’s intesines allow us to, Jim and I try to tackle some of the other complicated issues he faces. Lately we have spent an incredible amount of time thinking about Zack and his learning challenges. I thought I would spend some time highlighting a few of his learning disabilities to help our friends and family understand some of the things he deals with every day in addition to his medical concerns.

Zachary showed signs of dyslexia from an early age. He was late learning to speak, had a lot of trouble learning to say his alphabet, could not recognize his letters or numbers, had trouble learning the sounds letters make (still struggles with this), and could not rhyme.

Zachary was not officially diagnosed with dyslexia until second grade when he had neuropsychological testing to help us figure out what learning disabilities we were dealing with as he was falling farther behind in school. This is very typical for kids with dyslexia as many children not diagnosed until third or fourth grade. This delay in diagnosis is significant because early intervention in a multisensory, sequential, structured literacy program used with fidelity is crucial.

Early Intervention Is Critical: When intervention is delayed, it takes four times as long to intervene in fourth grade as it does in the late kindergarten because of brain development and because of the increase in content for students to learn as they grow older.”
National Institute of Child Health and Human Development

In addition to dyslexia, Zachary was also diagnosed with dysgraphia. Dysgraphia is a specific learning disability that affects all aspects of writing. Zack has issues with his fine motor coordination leading to illegible handwriting, inconsistent spacing, poor spelling, and difficulties in the entire writing process including composing sentences and paragraphs.

A current sample of Zack’s handwriting.

And because Zack does everything differently, he was also diagnosed with dyscalculia. Dyscalculia is a specific learning disability in math. Kids with dyscalulia struggle to learn math facts, have trouble identifying symbols and using them correctly, and a whole host of other things. Zack struggles with it all.

You may be wondering how on earth Zack tackles learning . That is a good question. Learning is incredibly taxing for Zack. He spends the majority of his day with special education services. He has been working extremely hard at reading. No, seriously… is extremely hard and we are really proud of his determination. After years of intervention, he is beginning to understand how to read and can even read almost at grade level.

While he is beginning to understand how to read, spelling is another thing altogether. Not being able to is spell is frustrating for him. Zack is fortunate that his school has provided him with assistive technology in the form of a computer with word prediction software. The technology is great, but Zack still struggles sounding out words. This makes using word prediction software difficult. Zack is learning to sound out words when he can see them on paper, but trying to spell something from memory has been agonizingly slow and this ability is needed to use the word prediction software effectively.

Zack is becoming quite adept at using his computer in other ways. So much so that he was able to fix a problem with the church check-in program a few weeks ago when all of the adults were having issues. He is also learning basic coding through a program called bitsbox that he works on with his dad. He needs lots of help with the numbers, but he understands the concept. I am getting sidetracked. Welcome to my brain.

Dysgraphia makes the physical act of writing incredibly hard. His fine motor skills are weak. He can write his name and other words by hand, but it is laborious and frustrating for him. In addition to stuggling with the physical act of writing, dysgraphia causes issues with language processing, visual-spatial issues, spelling issues (double whammy), grammar issues and problems organizing written language.

To help Zack with his dysgraphia, Zack has several accommodations. He is able to use his computer, but trying to get his thoughts from his head onto paper, even with typing, is daunting. One of his accommodations is a human scribe. This has helped Zack begin to form sentences and basic paragraphs, but he needs heavy adult support.

Dyscalculia is the third of the “D” learning disabilities that Zack faces. Needless to say, math is not Zachary’s favorite subject. Adding and subtracting numbers without a calculator is nearly impossible for him. I am sure you can guess how multiplication and division facts are going. At one time, he knew some of his multiplication tables, but not anymore.

Jim and I have not given up on working with Zack on his math facts. Zack learns best with lots and lots and lots of repetition. Not just with math, but in every area of learning. And so we work on these skills at home in hopes of helping solidifying them – one day.

In addition to all of these, Zack also has ADHD. Zack’s ADHD is not typical in that it does not respond to medication as it should. This causes Zack to have to work incredibly hard to focus in school. It takes more energy for Zack to do his school work than a typically developing child. He needs frequent breaks because his brain cannot focus for long periods of time. This makes his other learning disabilities even more challenging to address.

Add to these things Zack’s medical issues and his anxiety and his learning profile is extremely complicated. And frustrating. And exhausting – not just for Zack, but for everyone who helps him and for us.

Many days when Zack gets home from school he melts down. He tends to save most of his frustration for home, although lately some of his frustration is being seen at school. This makes me sad because outside of school Zack has a very kind and happy heart. The other day Zack came home upset about getting in trouble at school. I found him petting Cap in the dog kennel singing one of his favorite songs, Even If, by Mercy Me. He felt better after that. (I am so grateful for our furry service dog in training.) I tried to be inconspicuous and let him have his time alone, but it was such a precious moment that I took this video:

Interestingly, this song was written by Bart Millard, the lead singer of Mercy Me, about his son’s life long battle with diabetes. He says of the song,

“My son, Sam, is 15 years old, and he’s been a diabetic since he was 2. When you’re a parent of a child with any kind of chronic illness, these things don’t go away. You have a lot of good days, but some days you feel like you’re losing bad. I was in the midst of one of those bad days when ‘Even If’ was written.”

Although Zack was sad about school on this day, I find his love of this song appropriate. Heaven knows I have been known to sing it when Zack is not feeling well. Some of the lyrics:

They say it only takes a little faith/ To move a mountain/ Well good thing/ A little faith is all I have, right now/ But God, when You choose/ To leave mountains unmovable/ Oh give me the strength to be able to sing/ It is well with my soul. … I know You’re able and I know You can/ Save through the fire with Your mighty hand/ But even if You don’t/ My hope is You alone

Jim and I have spent a lot of time telling Zack about his beautiful brain and how it learns differently. We let him know that we realize he has to work much harder than his classmates, but that he IS capable of learning and that we are here to help him. We also talk a lot about how working through hard things makes you stronger.

In January there was a Dyslexia Advocacy Day in Annapolis, Maryland. The purpose of this particular Dyslexia Advocacy Day was to talk to legislators here in Maryland about the Ready to Read Act of 2019 and to gain their support for this legislation by telling our personal stories with dyslexia. Zack heard me talking about going and asked if he could come and speak. Sadly, he came down with a fever and, well, that was the end of that dream…for now.

Even though we were unable to attend, Zack had me write his story in his words to share with our State Delegates. I do not know if we will ever hear back from any of the delegates, but I love that he is learning to find his voice and speak about the things that are important to him. And that, I believe, will be a skill that will help him accomplish great things.

Hug your babies!


Zack’s 12!

Zack turned twelve last month. Twelve. That is crazy to me. Since our other boys are 25 and 21, I suppose I should have seen this coming.

This past week Zack had his yearly checkup. It was his first real checkup with his new pediatrician, so we had a lot to discuss. Zack has a lot of unknowns in his life, but one thing that always brings me peace is the amazing medical team that cares for him.

For some reason, Zack’s body does not feel the need to gain weight right now. We noticed at an appointment in January that he had lost a bit of weight despite an increase in calories from his overnight feeds. At the appointment this week his weight was down a little bit more. This downward trend means that he is barely hanging on to the weight chart. If he loses any more, he will officially be off the chart. Our goal for Zack is to get to the tenth percentile.

Zack’s doctor and his GI will be talking to discuss what our next steps are for gaining weight. I am not sure if we will be changing formulas, mixing his current formula differently to increase the concentration and calories or keeping things the same and getting more calories through daytime formula feeds in addition to his overnight feeds.

High ileostomy outputs continue to plague Zack’s body. During his visit he was on day two of outputs over 2,000 (ish)ml/day, but was doing fine. He looked good and had energy. The day after his visit he woke with belly pain, a headache and lethargy. We rescue dosed him and kept him home from school. I needed to head to the grocery store and took him with me. He was so low energy that he needed to rest in the shopping cart. I’m sure people thought he was sick with something contagious. I would never take him out if that were the case. We needed food. Zack was not contagious. Life goes on, even when you have a chronic illness. After a day of rescue dosing the heck out of him, I am happy to say that he is feeling much better.

This is low sodium Zack. Those are his sodium chloride pills. When he doesn’t get off the sofa and needs to lick sodium, chances are it is going to be a long day at the Penrod house.

Back to Z’s doctor visit…..Happily, he has been consistently tracking in the fifth percentile for height. His doctor said that continued growth in height is a good indication of overall health, so that was reassuring.

We discussed the results of Zack’s new genetic testing and the implications of some of them. Specifically, we revisited the bladder issues kids with ACTG2 gene issues can face. We had discussed having a bladder scan with Z’s GI in December, but just never got around to scheduling one. His PCM agreed that it would be good to get a baseline scan done. Evidently, bladder scans are not the most effective way to see what we need, but are a good starting point. Zack will be having a bladder/renal scan once I finally call to schedule one. I am assuming his appointment will be in the next week or two.

Given the need to discuss all areas of Zack, his appointment was fairly long. We were able to talk about his difficulties in school and go over reports and grades. We were able to discuss his anxiety and what we are working on in that area. As we were talking, it was a reminder to me that any one of those areas by themselves can be overwhelming. Zack has multiple areas of concern and sometimes more than one is in need of attention. It was a good reminder that there is a reason for the difficulty of this season in Zack’s life and that Jim and I are doing a good job of holding it together — most of the time.

Zack was a good patient (yay) and polite and answered the doctor’s questions (mostly) and that was amazing! He was still nervous all the way to his appointment and asked, “This isn’t inpatient, right?” and “This is all awake, right?” But he did not fight getting his vitals taken or his examination and that is a HUGE step for him.

When his appointment was over, Zack had some friends waiting in the lobby. Here are some photos to show how happy he was to see them:

Zack and his buddy Elsa.
Zack and Aslan. He loves him.

Elsa’s human, Pat, and Aslan’s human, Jen, are the some of the most wonderful people ever. They know how much Zack loves these dogs and how much Zack dislikes the hospital. Even though it was not one of their regular days to visit Walter Reed, they made a special trip just for him. How do you thank someone for loving your child that much? I cannot ever begin to tell you just how much it means to us. There are definitely blessings in each day, even the hard ones.

Hug your babies.

~ Dawn

Growing Pains

Hello Interweb! It has been a while…two months to be exact. I wanted to write about how great Christmas was around here, but life events got in the way of that. Two days after Christmas we hopped on a plane to go to Drew’s wedding. There was no time for an update when a wedding was taking place!

I am inserting a short wedding paragraph here that has nothing to do with the point of this post, it just makes me happy. Drew and Lindsey were married just outside of Austin the first week of January. It was beautiful and warm and outside – in January! I mentioned that, right? Lindsey was a gorgeous bride and Drew was a handsome groom. Lindsey’s parents thought of every detail and the day was just perfect. When their official wedding photos are back, I will post more about this joyous occasion. For now, I’ll just put this picture here because it makes me smile.

Drew and Lindsey Penrod

Back to what actually motivated me to write today. (Although writing about the wedding is way more exciting.) Today I wanted to write about some things I am learning about myself in this role of being a parent of a special needs child.

By nature, I am a peacemaker. I do not like confrontation. I want everyone to get along and like one another. I am the one introducing herself to those I do not know. I am also the person introducing new people to those who they have not met to make sure everyone feels comfortable in a new situation. This may be a result of having been a military kid and moving every two years until college. It could also be the result of being a military spouse and working hard to meet people and make connections before it was time to move again. I suspect it is likely a combination of both those things.

I tell you this because as the parent of a complex child (I think I will go with that description of Zack for now), I have had to stretch myself and learn to be OK with people not always liking me. In order to effectively advocate for my child, I have had to learn that I cannot always please everyone. There are times when I have to confront others for Zack’s sake. It is uncomfortable. It is out of character for me and it requires a level of strength and courage I am still learning to find.

I think I will always care about what people think of me. I try my best to make sure that I am honest with my speech, kind with my words and thoughtful of others. My main job at the moment, however, is to be a voice for Zack so he can get the support he needs to become the person he is called to be.

Almost every night before bed we ask him, “What is the most important thing about you, Zack?” He replies, “That I am a child of God and that I am your son.” Although the question is asked of Zack, it is a daily reminder for me as well. I have been called to be Zack’s Mom. To love and protect him. To operate on less sleep than a new mom — for years on end. To learn as much as I can about the gastrointestinal system. To continue to fight for him over and over again when it would be so much easier to quit. It can be an overwhelming, stressful, lonely, and exhausting job. It stretches me and forces me to grow in ways that make me uncomfortable.

And yet….here I am. Each new battle helps me to grow stronger (and not just because I have to work off my stress by exercising), to learn something new about myself (some not so pleasant things as well), and to keep fighting for Zack. So, bring on the growing pains! But please… not all at once!

Zack after killing it at the wedding. His shirt was tucked in for the ceremony and he did NOT wear that hat until the reception.

Hug your babies!

~ Dawn

Whole Exome Sequencing

Do you remember way back in September when I wrote about Zack having Whole Exome Sequencing done at Walter Reed?  No?  No worries, I can barely remember September either…

Let me refresh your memory.  We were told that though this test looks at over 20,000 genes, positive results are only found 30-40% of the time.  This is true even when the person being tested has significant medical signs and symptoms.  Even so, together with Zack’s doctors, we decided to see if this test could find a reason for Zachary’s issues.

When we heard the results were back in only three months, we tried really hard not to get our hopes up.  Jim was not able to go to the appointment with me this time, but we were able to have him listen in on my cell phone as Zack’s geneticist gave us the results.

Are you sitting down? I really think you need to be for this.  Zack’s testing results came back positive for an anomaly.  Not only that, his doctor told us that he felt the anomaly was the reason for Zack’s intestinal problems!  He seemed pretty excited about that and rightfully so!  Many doctors in several hospitals have been working for many years to try to figure out what on earth is wrong with our boy.

And now for the moment you have all been waiting for…oh wait….I guess only Jim and I have been waiting for this moment.  But I’ll share it with you as well.  Here are the results of Zack’s test:

1.  Causative Variants in Disease Genes Associated with Reported Phenotype:

  • Gene – ACTG2
  • Disease – ACTG2 – Related Disorder
  • De Novo – new to Zack (Jim and I do not have this mutation.)

2.  Zack’s variant in the ACTG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. (Zack is the first documented person with this variant….of course…) This variant is not observed in large population cohorts. We interpret (Z’s variant) as a likely pathogenic variant, which is likely consistent with the megacolon, small bowel obstruction, dysmotility, and constipation reported in this individual.

You may be wondering what on earth that really means and so do we.  It has only been about 36 hours since we found out.  We left the doctors office armed with many articles to read, websites to look up, and information on some organizations that deal with gastrointestinal diseases that we had not heard of before.

This is what I can tell you.  This is from the NIH website:

The ACTG2 gene provides instructions for making a protein called gamma (γ)-2 actin, which is part of the actin protein family. Actin proteins are organized into filaments, which are important for the tensing of muscle fibers (muscle contraction) and cell movement. These filaments also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents.

The γ-2 actin protein is found in smooth muscle cells of the urinary and intestinal tracts. Smooth muscles line the internal organs; they contract and relax without being consciously controlled. The γ-2 actin protein is necessary for contraction of the smooth muscles in the bladder and intestines. These contractions empty urine from the bladder and move food through the intestines as part of the digestive process.

You can read more about ACTG2 on the website and look up health conditions commonly found with genetic changes on the gene.  One of the interesting things we read in one article is that periods of severity can wax and wane.  Zack often has periods of intestinal obstructions in his small bowel.  Thankfully, they have been resolving on their own lately.  However, he definitely has periods of more intense pain, prolapsing and obstructing.  We also think this may explain why he had normal motility testing and then a few months later his testing showed complete dysmotility.  A year after that his testing showed zero motility once again.  Soon after that he had his final motility testing which showed that he had a few centimeters in his colon with motility.  Craziness.  It may also explain Zack’s urine retention issues after surgery.  These always result in bladder scans and the threat of catheterization.  We need to discuss these things further with his GI doctor.

Zack’s geneticist said that people usually have one of two reactions to news of genetic anomalies.  They either express great relief or sadness.  I think I experienced some of both, but mostly great relief.  Knowing that Zack’s condition is not “curable” is actually helpful, in my opinion, because it rules out a lot of testing and guessing about next steps.  The sad part about this is that when we told Zack that the doctors found a reason for his intestines misbehaving, he was excited.  He said, “Yay!  Now I can be cured!!”  That was a bit of a tough conversation, but only for like two minutes.

Jim and I will have an appointment with Zack’s GI to discuss plans going forward in mid December.  We have many questions and I am sure his doctor does as well as this is new information for all of us.  Until then we will be researching and reading all we can about ACTG2.

I leave you with a photo of our crazy family over Thanksgiving weekend trying to get that Christmas card photo.  Jim’s face reminds me of Steve Martin in Father of the Bride and totally cracks me up.  He says he was just checking to make sure Zack was OK.  The boys and I were laughing like crazy because Zack was being a goofball.  Good times and great memories of our last time together at home before Drew gets married!

Hug your babies!

~ Dawn

World Ostomy Day

Lately, it seems like every day is dedicated to something.   Today, for example, I have learned that it is National Orange Wine Day, National Mad Hatter Day and National Noodle Day, to name a few.  While I think National Days are fun (especially National Chocolate Day….need to look that one up), I want to tell you about a day that we are going to celebrate the heck out of around here.  To add to the excitement, it is not a National Day, it is a WORLD Day.  Today is World Ostomy Day 2018.

I must start by acknowledging that every day is Ostomy Day around here.  Every Day.  Even so, we are happy today is officially designated World Ostomy Day.  It gives us a chance to help people learn more about ostomies and how wonderful they can be.

Ostomy surgery is a life saving surgery.  It enables stool and urine to be eliminated from the body in a different way because of a malfunction or damage to the digestive or urinary system. There are so many things I could share about ostomies today and I just know that they would captivate you.  However, in an effort to NOT put you to sleep, here is a graphic made by the United Ostomy Associations of America with some fun facts:

For those of you who know Zack and his ongoing intestinal struggles, you may be wondering how on earth we celebrate an ostomy.  Well, sit right back and let me tell you.  See this little guy?  This is Zack without an ostomy.  Look at his belly.  Look at his face.  Does that look like fun?

After being reconnected in Cincinnati and realizing we had major issues on our hands.

This is what “fun” looked like without an ostomy.

This is how he “played” – on the sofa, in small bursts.

Zack without an ostomy – in pain each and every day.

Zack’s colon without an ileostomy.  If you are not an expert in reading x-rays, that dark s-like area taking up his abdomen?  That is not normal.  That ring in his lower pelvis?  Those are staples from his anastomosis.

Sure, we still have lots of issues to deal with even with an ileostomy.  Zack still has days where he does not feel well.  He has different issues to deal with now and some are really tough, but he also good days.  He can go to school, he can play outside, he can run, he learn karate and play tennis and swim and enjoy being a kid.

I asked Zack to pose for some pictures to show how strong he feels with his ostomy.  These are the two he picked.

I wanted to take a picture of him in his black Stealth Belt.  Zack set me straight.  He said, “Mom, this is what my bag looks like.  You can’t see it in the Stealth Belt.”  He is right.  He does not mind showing you what his bag looks like.  It is a part of his body now.  And, he will tell you, it helps him live.  Happy World Ostomy Day!

Hug your babies!







Best Day Foundation And An Update

August was a month packed with lots of visits to Walter Reed and I wanted to wait until Zack had all of his appointments until I posted an update.  Originally we were just going to have a visit with Zack’s surgeon and a visit with genetics.  At our surgery visit, a referral to neurology was added. To add more excitement to our month, Zachary needed an eye exam.  In addition, Zack’s PCM retired from Ft. Meade and that seemed like the perfect time to transfer Zack’s regular pediatric care to Walter Reed.  This meant adding another appointment to establish care with his new doctor. Actually, we have known this pediatrician for years from Zack’s inpatient days, but she was not officially Zack’s doctor.  The way it all came about is a fun story, but I’ll save that for another time.  We are thrilled to have her supervising Zack’s pediatric care.

As August ended, we knew that we needed to see Zack’s GI and it just made sense to wait to update the blog until all of those things were complete.  Although by doing so, it makes for a long update…

Let me see if I can do a quick(ish) summary….yeah, right…you’ve met me.  Quick is not my thing, but I will try because it is 11:30 p.m.

Not much new happened with Zack’s surgeon other than learning that he was deploying, so we hope that nothing surgical happens in the next few months.  We did talk about some surgical options, but I refuse to think about those until Zack’s body tells us otherwise.

During Zack’s genetics visit, we decided to have whole exome sequencing done.  It is pretty interesting stuff.  If you want to learn more about it you can click on the link above.  The test takes several months to come back and we have been told that it only finds issue about 30 – 40% of the time, but it is one of the best tests available at the moment and much more precise than the last test Zack had 6 years ago.  Jim and I also had our blood drawn so that if abnormalities are found in Zack, they can compare our DNA with his.  We signed lots of papers and had lots of counseling about what this test can and cannot do and the different things we might discover.  Now we just wait.

Neurology really didn’t tell us much, but it did rule out lots of diseases.  The most interesting thing that I learned was that the brain and the skin develop at the same time during gestation.  Zachary has several skin abnormalities which the doctor seemed interested in, but the big diseases that occur together with the brain were ruled out.  We left there learning that the neurologist believes that Zack’s issues are chromosomal.  So, basically nothing new.

Zack’s pediatrician appointment was great because we have never had a pediatrician that truly understood everything going on with Zack.  This doctor really does.  She actually read his entire medical record back to our time in Germany.  That was certainly a time-consuming feat.  We were so thankful that his doctor took the time to do that so that she could really understand Zack and all of his medical concerns.

Zack’s ophthalmology visit was not as wonderful.  Last year Zack was so nervous about getting his eyes dilated that the doctor said he could wait until this year to do it, but that it had to be done.  Zack was even more nervous this year, but we worked on helping him through it and he was ready.  Before his appointment, the Red Cross Dogs made a special trip to see him to help him relax.  When we got to the appointment, Zack was clearly agitated…but ready to get his eyes dilated.  The doctor saw him and said, “Well Zack, I’m OK with waiting until next year to dilate your eyes, but I will leave that decision up to your mom. Just know next year you REALLY have to get it done.”

Um……who does that?  What doctor tells a child something like that and then makes the mom the bad guy.  I was not impressed.  Zack was ready to do it because he knew he had no choice.  Now he thinks he can get out of it again.  I rarely complain about doctors on this blog as it really serves no purpose, but come on!  That was craziness.

Zack and Elsa and Bailey before his eye exam.

Z’s GI appointment today was interesting.  For the past month we have been noticing a downward trend in his weight.  Today we talked about getting more calories in him through his feeds.  He currently receives 1200 calories overnight and we are bumping that up to 1400.  His g-tube, which was too small before his revision in March, is now too big because of his weight loss. That was resized today.  We also discussed seeing if a trial of steroids might help Zack.  He is still dumping (too much output) for some unknown reason, still has belly pain, still prolapses and still has days where his stoma is swollen.  The thinking is that perhaps Zack’s issues are some weird autoimmune response and that a course of steroids (several months) might help calm that down. Because this has been an issue for years, nobody knows just how long it might take.  From what I understand, we will be watching his body for clues to measure its effectiveness.  Steroids come with their own set of side effects, but one of the good ones, for Z, is weight gain.

If the steroids improve his symptoms, we will take him off of them and wait and see what happens.  If his symptoms return, we will do scopes and full thickness biopsies to get a baseline.  Then start the steroids back up for a time and repeat the biopsies to look for improvement.  If they don’t work or if Zack has adverse side effects, we will stop the treatment.

Whew.  Two more updates.  First, Cap has started Medical Assistance Dog training to try to help Zack with his medical trauma anxiety or PTSD.  We are all pretty excited about that.  It is a long process, but Cap seems to really enjoy it and Zack loves it!

Second, Zachary had the opportunity to head to Ocean City, MD last weekend and go SURFING!  The Best Day Foundation hosts events in different cities for children and young adults with disabilities to allow them to try adventure activities that they would normally not be able to.

Zack was paired with some buddies, Angie, Terri and Mason, who helped take him around to different stations.  They were wonderful and so encouraging and loved on Zack and helped him feel incredibly special.  A big team of volunteers worked to help the kids surf and boogie board, play in the sand, meet some super heroes, have lunch and get medals and goodie bags.  The weekend was super rainy but, for that hour and a half, not one drop of rain fell, the sun came out and once each child had several opportunities to get into the water the skies opened back up.  Perfect timing.

I leave you today with our favorite pictures.  Just a little warning….I am posting a ridiculous amount of photos.  My blog also serves as my journal, so I wanted to make sure I could find these pictures easily.   Some pictures are our own and some are from the Best Day Foundation Chesapeake Bay Facebook page taken by Desiree Ortman Photography and Nick Denny Photography.  I’m sure you will be able to tell which are ours.  If you are on FB, head on over to the Best Day page and check out the awesome photos of the event there as well.

Zack all suited up and waiting his turn.

A very happy surfer!

Zack after his first ride being asked if he wanted to go again…heck yeah!

The amazing volunteers who helped Zack catch some waves.

Zack’s buddy, Angie.  She made his day extra special.

Another of Zack’s buddies, Ms. Terri.

First boogie boarding attempt.

Check out the size of those waves.

Zack’s team.

Just a boy enjoying the ocean.

Zack telling us that he really NEEDS a surf board.

Zack’s cheering section.  Dad, Mom, Abby and Dan.

Celebrating with pizza and some of Zack’s favorite people.

And finally, one of Zack’s surfing runs.  The video is a bit blurry, but totally amazing. Thank you to the Best Day Foundation for an amazing experience!

After writing all of this, I came to the conclusion that jamming all of this info into one post was a bit nutso.  If anyone besides my mom actually reads to the end, I will be super impressed.

Hug your babies!


July 2018 Update

Time for a Zack update.  I’m tired, so I don’t know how fun this will be to read.

For the past few weeks, Zack’s belly has been hurting.  While Jim was away Zack had two episodes of pretty intense pain that were fairly short in duration.  He was having his usual lack of output during the day along with a swollen stoma and prolapse thrown in to the mix.  Adding to the fun was a lump that randomly appears next to his belly button.

This face is Zack’s pain face.  It kills me.

The lump…sometimes it is on the right, sometimes on the left….

Additionally, Zack has been suffering from some pretty intense anxiety.  He is worried about dying at night.  The worry is so great that it keeps him from falling to sleep.  Seeing him so scared and being unable to calm him is pretty hard.

Last week Zack had a hard day with belly pain, distension and lack of output.  He thought he needed to be hooked up to his feeds because he was soooo hungry.  Turns out he actually had a belly ache.  Once we attached him to his feeds, he began crying in pain. Jim and I felt he was OK and got him ready for bed and then things went a bit wonky.  Zack was so upset about dying, convinced he was low sodium and worried about his belly that he actually asked us to take him to Walter Reed.  Zack NEVER asks to go to the hospital.  Jim and I were still not positive he needed to go but, because Zack is almost always right, off we went at 11:30 at night to the ER.

Zack did well until the staff began discussing getting blood for labs and then angry badger made an impressive return.  Jim says angry wolverine is a more accurate description.  Jim needed to restrain him.  The staff discussed giving him ketamine or ativan to calm him down.  I left the room because it was too upsetting to see him like that.  The staff and doctor were so incredibly kind and tried really hard to help Z feel more comfortable.  After about 45 minutes of fighting, Zack was able to calm himself down and no ketamine or ativan were needed.  He was then able to ask the nurse if she could use a butterfly needle to get his labs and even helped her find the best vein.  All labs and x-rays came back within normal limits.

The doctor said that his belly symptoms were consistent with an intermittent obstruction.  These happen to him most days, but this one was particularly painful and his belly was distended making it a bit more intense than our average day.  As soon as his output started back up he felt much better.  Also typical for him.  So basically, more of the same crazy we have every day with some major anxiety added on top for fun.

The next day, Zack’s GI doctor and I spoke.  We know that Zack has narrowing near his jejunum and another 20 cm in from his ostomy.  We know that surgery would probably fix that issue, but not address the underlying issue – which remains unknown.  Given his history and our desire to NOT have more surgery, he came up with a three-part plan to try to help Zack.  The plan is not found in any medical textbook as we are trying to find things that work specifically for Zack’s “unique” body.  The first idea was to try to simulate the relief Zack seems to get with barium by essentially doing a Miralax cleanout once a week.  We are on our second attempt and the reviews are mixed.  Barium seems to give Zack relief for about a month.  The Miralax lasts about a day.

We did not see any improvement the first week.  Zack’s belly hurt the very next day and there was not any real noticeable difference in his output.  We gave Zack his second dose this past Sunday and still did not notice much of a difference.  Zack’s stoma has been just as swollen and his belly still hurts.  However, although his output was still low today, he actually had output.  Zack also asked us to give him more Miralax to help his belly feel better.  So, maybe there is hope?  We will continue this for a few more weeks.

If the Miralax trial does not do the trick, our next step will be to try to stent open his stoma with a red rubber catheter.  Of course, Zack would need some sort of light sedation for that and well……

How would you like that inside your intestines?

Our third option is to do more scopes and get full thickness biopsies to look once again for eosinophils.  If we find those again, we would do a trial of steroids and if we see improvement in his belly, redo the scopes to try to prove the steroids are helping.  There is much more to all of that, but the gist is to try to figure out if we are actually dealing with eosinophilic ganglionitis. Yes, we have been trying to do that for a few years, but were waiting for Zack to be a bit sicker.  He still is not really technically sick enough, but it is time to try.  Isn’t that nice?

In the meantime, Zack’s anxiety has been getting worse.  As I said before, Zack has become so worried about dying that bedtime is just not happening.  Jim and I found ourselves getting upset with Zack and frustrated with our lack of sleep rather than seeing that our child was/is actually really scared.  Today we met with his psychologist and had a telephone consultation with his developmental pediatrician.  Jim and I feel much better after speaking with the two of them and have a new game plan there as well.  Starting tomorrow we will be switching up some meds and adding some new ones.  We are also working on ways to reassure him, working on ways to help him process his thoughts and feelings, and working on ways to help distract him from those moments which are overwhelming.

Zack has also rekindled his love of watching Miracles From Heaven.  It is a movie about a little girl with intestinal issues that are different from Zack, but similar in many ways.  He seems to really like seeing her get an NG tube, a feeding tube and, of course, seeing Dr. Nurko make a cameo apperance.  He wanted to know why God healed her and if He could heal him.  He also started asking me questions tonight about what happens when you die, if you still have a family in heaven and how God heals you in heaven.  While those may seem like heavy questions for an eleven year old, I prefer to see it as a good sign that we may finally be getting to the root of his anxiety.

I have several friends with kids who are chronically ill.  They have reached out to us and I cannot tell you how much that means to us.  While I am sad to learn that their children also suffer from anxiety over medical issues, it is nice to know we are not alone….because in the middle of the night it sure feels lonely.  I hate that kids who are sick struggle with these issues.  AND I am also so grateful that the doctors who care for them take this seriously and are compassionate and kind.

Lest you think all is doom and gloom around here, Zack does have some fun things happening.  His Aunt Carie is in the States for a few weeks and we have some shenanigans planned with her.  Tennis is in full swing (ha!) and Zack has actually been hitting the ball OVER the net this year.

Our neighborhood is full of boys and Zack has been enjoying playing with them and I love watching that.  Captain Awesome is set to start some new training to hopefully learn how to be a support to Zack and Z is thrilled about that.  We have also managed to hit two carnivals this summer.  At the last one, Zack met up with his cousins and that always make him happy.

Zack with Kelsey (in white).  She’s pretty great.

Tonight we made a new summer bucket list and we hope to start marking things off.  High on his list are going to the beach, making slime, going to Hershey Park and playing with Jake.  We still have another month to make all of that happen, right?

Hug your babies!

~ Dawn