First update on new site

It has already been almost a month, and we have had a great deal going on, as always!

Neurology referred us to Nephrology because Zack has had crystals present in his urine for over 3 months, despite adding poly cytra k crystals to his bottles. They went ahead and squeezed him in to Radiology to do an ultrasound of his kidneys today and found a small 3 mm spot in his kidney, which I don't remember if the doctor called a calcium deposit or an actual kidney stone. He also said something about how he did not see calcium oxalate in his urine but rather calcium phosphate, which affects the treatment plan.  The nephro decided to start Zack on Diuril tablets twice a day. 

At the same time, we went for a feeding appointment with the OT, and we got the okay to start baby foods for the first time!  This meant we had to get with our dietitian to come up with some recipes for Zack's food because of his Keto diet, but it also meant more room for change with his keytones and calorie intake.  Anyone familiar with the diet knows how significant this can be for seizure control. 

The reason I mention this is that Zack's first dose of Diruril and his first taste of carrots happened within 24 hours of each other, and within the next 24 hours we started noticing a big change with him.  He didn't seem to want to eat very much over the next couple days, so the baby foods quickly were cut out to try to save as much room for fluids as possible.  I was also concerned that maybe the carrots were throwing off his diet, and wanted to rule that out.  By the third day of the new med, he was having what we feared were seizures every time he woke up.  I let our neuro know about the increase in seizures and we were able to get him into the Epilepsy Monitoring Unit rather quickly. 

We were admitted to the hospital for a 24 hour VEEG, and Zack performed a little too well for the doctors in my opinion.   He had about twenty some events, as we flagged any questionable activity.  We learned that about half of the events were true seizures, and the others were attributed to behavioral movement, poor muscle-brain coordination caused by seizure activity, and some events showed spikes in the brainwaves, but were not actual seizures.   Even though not all the episodes were seizures, he still had the largest number of seizures we have seen him have in months, around 8-9 estimated seizures over the 30 hours he was hooked up. 

After discussing a lot of the recent activity with Zackary, we decided that the first thing to do would be to stop the Diuril and see if that allowed his appetite and seizure control to return.  We were given instructions to try this and see how he responds, and then we are to follow up with nephro next week.  I am extremely happy to say that we are seeing a wonderful improvement with Zack already, and it hasn't even been three days without the new med.  He is still not eating as much as we would like, so no more baby foods, but it's after 10 in the evening and we have only seen 3 seizures today, so I'll take it!  I have no idea what the plan will be to treat the kidney stone, but we will definitely be finding something other than this.

 As for some exciting news: I have found some online boards and pages for children who have been diagnosed with Infantile Spasms and also for those on the Keto diet and it has been great to have other families to share experiences with and get ideas from, and I couldn't be more thankful for that. For some even more exciting news, I have been able to find THREE other families here in the states who have children with STXBP1 genetic mutations!! This is exciting because 1) there are only "a handful or two documented cases" and 2) it is really nice to have the opportunity to connect with other families who are going through some of the same things we are with the same cause, as this can affect treatment options significantly.

I think I have rambled enough for now, but I have figured out how to post pictures, so I will end with some pictures of Zack's life recently at 9 months old

First time grabbing something and bringing it to his mouth = Very proud Mommy and Daddy!!!

 Finally got his new swim floaty and tried it in the tub; after a few minutes he seemed to love being able to move so easily! And yes Zack is tough enough to be able to sport the pink ;)

First time eating solids = success!! Carrots and butter for his Keto diet, and he acted like he'd been eating them for months!

MU won the football and basketball Border War games this year; Zack is very proud!

Hanging out in the oh so lovely EEG "hat" at the hospital with Mom and Grandma Nancy

Monday, January 16, 2012 6:17 PM, CST

I did not realize it had been so long since I have updated; there has been a lot going on lately!
Zackary had an amazing Christmas and we were all very happy to see a lot of family that we don’t get to be around very often! We were bragging about how much more awake Zackary has been lately, so of course he had to make us look like liars J . He decided to sleep the whole time we were around anyone, but would wake up in the car or as soon as we got home. But he did wake up to welcome in the New Year with us. He got up and stayed awake just long enough to watch the ball drop on TV and get some Happy New Year kisses, and then went right back to sleep!

Other than the holidays, we have been busy with lot of “Zackary stuff” lately too.

At one of Zack’s eye exams he was diagnosed with a Cortical Visual Impairment, which the doctor said was likely a result of his seizure activity. Basically the structure of his eyes are good, so he can see, but he can’t process what he sees very well. We don’t know a great deal about what this means yet, but we are learning more as we go. We have been referred to and evaluated by CCVI now, and we will have a Special Instruction teacher coming out to the house each week to help us understand and work on his vision. We have also been able to increase our therapy through First Steps to having his PT come once a week now and we FINALLY got the approval for OT to come twice a month also. 

We also go to an OT at Children’s Mercy every couple weeks to do feeding evaluations and other OT type stuff. We added thickener to his formula to help his coughing and raspiness after eating, and it has worked like a charm so far! We are working on getting a special chair for Zackary to sit in while he takes his bottles since he’s getting so big and needs to be at a certain angle. She has also helped us get in touch with the right people for a new car seat and stroller options.

We finally met with a Genetic counselor about Zackary’s condition and also what the possible recurrence rate might be. We learned that there are only about a handful or two documented cases of children who have the same genetic mutation as Zackary does, so needless to say, there is not a lot about it that they know just yet. They did tell us that because of the limited number of children reported with the STXBP1 mutation, they do not think that it is very likely to occur again, which made us feel better.

Things with our little man have been a little busy, but he has been doing very well for the most part. He has been showing us more and more of his gummy smiles and has been working really well on his head control! We have not noticed much of an increase in recognizable seizures, and we have even been able to cut the dose of one of his last two seizure meds in half. Sometimes he makes us wonder if there are some seizures going on that we aren’t sure about, so there may be an EEG in the near future. Either way, we are reminded daily of how far Zackary has come in the last few months, and for that we are counting our blessings! We finished 2011 out on a positive note, so here's to a 2012 full of even more hope and miracles!

Sunday, December 11, 2011 3:04 AM, CST

written by Nicole Peterson

This has been a very challenging couple of months for our family, and has recently been full of more ups and downs than ever before, which has been very difficult for us. Entirely too much has happened to be able to explain it all, but I will try to share what I can.

The new medication we started Zackary on seemed to make him sleep nonstop. We weaned him off of another medication, and that seemed to help some, but he was still sleeping much more than normal. He also still sounded raspy or congested at times, so we kept checking in with his pediatrician, as there seemed to be no getting rid of it. She decided we should try a nebulizer to help open the airways, which could have been irritated from being intubated at Mayo for his MRI. That has helped him a lot, and its only used as needed now.  
 
We had another EEG on December 1 to see if the new medication was helping, and I am very happy to say that out of the many EEG’s he’s had, this was the first one where there was no seizure activity at all. However, that was pretty much the last piece of positive news we received that day. 

When we got to our neurology clinic appointment, we learned that the results had come back from one of the genetic tests that Mayo had sent off. Zackary’s epilepsy is a result of a STXBP1 mutation, a rare genetic disorder. From what I have recently learned, knowledge of this gene being associated with infantile epilepsy is a pretty recent discovery, but that also means there is no cure or treatment yet. 

Because there is not much else the doctors can do for our little man they have referred us to the Carousel program, which is a pediatric hospice program. In addition to, or because of, all the seizures Zackary has had, we learned he is considered immunocompromised. That means that he is at a higher risk of getting things like pneumonias and other infections, and that they can be more difficult to recover from. He will get visits from his Carousel nurse a couple times a week to check on him and do any lab work he needs done. This will be very helpful because we can try to stay out of the doctor’s office and hospital and keep Zackary away from the germs that come with those places. Our goal is to make sure Zackary stays as healthy as possible and that he has the best quality of life he can have, for however long that may be. We are continuing his therapies and his medications (though we are weaning another seizure med), and we are not giving up hope.

Even though the doctors have been able to give us some more information, they have also proven to us that no one is quite certain exactly what is going on with Zackary, or what type of prognosis to give him. The neurologist from the Mayo clinic still thinks that Zackary has Infantile Spasms, but thinks that the new medication must have worked at getting rid of the hypsarrhythmia, since we were told it is no longer showing on the EEG. Our home neurologist thinks that his EEG looks very similar to his older ones and that he has Ohtahara Syndrome, which is one of the most devastating types of infantile epilepsy. They also have very different opinions about what to expect, which has made things both easier and more difficult. Nick and I are also supposed to work with Genetics to help us determine if this was a random occurrence or if it could be hereditary. While this has all been much more difficult than anything we have encountered so far, we are trying to stay optimistic, but also trying to prepare ourselves for the worst.

Our hearts are breaking after hearing the news, but we are fortunate that for right now there are some positives we can celebrate. Again, Zack made it through an EEG without a seizure for the first time ever. We are almost off of another med already, with no seizure increase. He is down to around 2-3 clusters a day, which is a HUGE improvement over the 20-25+ he was having last month! He is still sleepy, but he has had some good days lately where he’s been awake for much longer periods of time, so we are hoping that continues as he gets that old med out of his system. Right now, he is as healthy as he can be, all things considered, and for that we are grateful. Every day with him is a blessing, and that is what we have to focus on for now. 

Thank you for everyone’s thoughts and prayers, they mean even more to us now than ever before.

Tuesday, November 8, 2011 9:30 PM, CST

We celebrated Halloween in Rochester and got a few pictures taken of Zackary the Lion. Can you tell how much he loved to dress up and take pictures?! ;-)

Mayo was a great experience for us, but brought some tough news too so we just wanted to finish the trip and get home to relax and let everything sink in. My head is still kind of spinning, so bear with me as I try to explain a little of what we learned.

Zackary officially has a diagnosis now. He was diagnosed with Infantile Spasms, which is both the name of the types of seizures he has, as well as the name of his seizure disorder. IS is also known as West Syndrome. We are not sure if this is a progression of the seizure disorder he had before, or if it has been this all along and it is just more recognizable now, but either way we at least have part of an answer to what’s going on with our little guy.

The extended EEG Zackary had while he was in the hospital was the final confirmation needed for Infantile Spasms. It showed a very chaotic EEG pattern called hypsarrhythmia, which is likely the cause of his developmental delays. (This is why we have canceled the muscle biopsy for now) We also learned that he is having even more seizures everyday than we can recognize, which is already too many to count. Some of his seizures are very subtle, and some do not show clinical signs at all, making it impossible to know he’s having them unless he’s hooked up to an EEG.

As far as treatment, we were told of two medications that are typically used as first line options for spasms. One is a medication with very severe long-term side effects and one is a steroid that may have to be given by injection and could wipe out his immune system, among other things. Needless to say we had a very tough choice, but we decided to give the medication a try over the ACTH steroid. We have a short window of time to see if the Sabril works, and if not we move on. Both of these choices have severe risks, but in comparison to the risks of the daily seizures Zackary is having already they seem like nothing. We also started some supplements after we got the results from some of his lab work, so hopefully they will help his Ketogenic diet be more effective.

We started the Sabril as soon as we got back in town and are quickly moving toward the goal dose, so we are hoping to see good results soon. We have already seen a decrease in the number of seizure clusters and the intensity of the seizures, so we are praying he stays on this path and moves toward better control. As with any new medicine, it is making him sleep a lot more than normal, which can cause fewer seizures too, but we are hoping the medicine is primary cause for the decrease and that it continues.

As far as a cause for the Infantile Spasms, we still know nothing. There can be various causes, and the cause is related to the prognosis. Zackary’s MRI came back normal so there is nothing structurally wrong with his brain that they can see, but they want to repeat it in 6 months to a year to see if anything changes as his brain grows. There are also a bunch of genetic and metabolic tests that were sent off to Baylor, Chicago, and Atlanta (I think), but we wont have any results from those for a few months.

For now, the plan is to get the Sabril up to full dose and see how he does with that for a few weeks. We have another EEG and a neurology appointment with our doctor at Children’s Mercy on December 1, so we should know if the Sabril is working or not from the new EEG. We are also weaning him off of one of his 3 seizures medications he has been on for a while now, so hopefully everything goes well with that! We are going to start working with a PT and OT through Mercy, and I am going to put a call in to First Steps and try to get an increase in therapy through them as well. The more help we can get with working with Zackary the better chance he has to learn and develop despite the pesky seizures, so the more the merrier!! :)

With all of the changes going on right now we are hoping that Zackary starts to get some sort of relief soon. We are confident that once we figure out how to get that for him he will start to take off and show us everything he is capable of!

Thank you all for your continued thoughts and prayers, it is so helpful knowing that we have so much support from everyone around us!!

Thursday, October 27, 2011 7:16 PM, CDT

Zack did very well during his MRI and other tests today and handled the anesthesia and intubation like a trooper!! It felt like it took forever for us to get to see him again, but the nurses said everything went very well. He was awake when we walked into the recovery room and was doing perfect, and we were so excited to see him!

We were able to start feeding him right away, which seemed to make him happy! He took almost his whole bottle with no problem, he's just a little raspy from the intubation. He started smirking and talking to all of us after his bottle, being a very happy little guy, especially given his long day!!
Everything here has gone well so far, and now we are at the hotel relaxing tonight. Monday, Zackary will be admitted to the children's hospital for more EEG monitoring. He will be hanging out in an epilepsy monitoring unit, where he will be hooked up to an EEG for a minimum of 24 hours. I believe we are scheduled to be there 72 hours just in case the doctors need the additional monitoring to help them better understand what's going on with our little man.

We wont find out anything about any of the tests until the hospital stay, and even then only a few. Some of the genetic and metabolic things they tested are being sent off to other states and those will take up to a couple months to get any results. Until then we are just going to try to relax and maybe do a little sight-seeing so it doesn't sound like there will be much to update until next week!

Thursday, October 27, 2011 10:03 AM, CDT

 

Yesterday was Zackary's first day of appointments at the Mayo Clinic and he did great!

We started the day bright and early with a sleep-deprived EEG. He slept through the whole prep process of gluing electrodes to his head, which is something he normally doesn't like at all, so we were very proud of him! He slept through the majority of the test like he was supposed to and once Daddy and I finally got him to wake up we were able to capture a seizure cluster on the EEG, so that is good news. This allows the doctors to characterize the type of seizure they see on the EEG and also helps them see what part of the brain the seizure originates in.

Yesterday afternoon we met Zackary's pediatric neurologist, who we were very impressed by. She spent over 2 hours with us talking about Zackary's history and examining him, then discussing some possible treatment options we may try. We discussed the results of yesterday's EEG, but at the time she had not been able to compare them with his past ones. We are hoping to talk more about if anything has changed while he is admitted to the hospital after she has had a chance to review his previous EEGs. I will update more about what we learn from that later. The best news we heard yesterday is that this doctor does not think that Zackary needs to have a muscle biopsy just yet, until we get some more test results back. Then if we still do not have clear information we may want to have the surgery then, but we are very happy our little guy doesn't have to have that done at this point!

At the moment, we are waiting for Zackary to have an MRI and some other tests done. They accidently double booked the machine that Zackary needs to be tested on, so our 7:45 am MRI is getting to be later and later. The look on his face in the picture shows how happy he is about this :) Thank goodness he is doing a good job of staying asleep for the most part, because he is a hungry, grumpy little guy when he wakes up! He hasn't been able to have anything to eat since midnight because they will be using general anesthesia to sedate him for the scan and they will intubate him as a precaution since he is so little. The MRI is looking for any structural abnormalities that could be causing Zack's seizures. They are also going to take some blood and urine for analysis, and do another Lumbar Puncture to check for some possible genetic or metabolic causes. He has already had all of these done before and they came back normal, but it sounds like they are testing for some different things this time, so maybe after all of these tests we will get some new information.

I will try to keep updated as much as possible. Thank you to everyone for your thoughts and prayers. It means so much to our family to know that Zackary is loved and cared about by so many!

**EDITED**

They FINALLY took Zackary into the room to get his anesthesia and perform the MRI scan. We were told that this part would take at least an hour, then they will take him upstairs to a procedure room to do the lab work and the LP in a sterile environment. We were told shortly after that we will be able to go see him in recovery, so we can get him some food and love on him while they continue to monitor him before they let him leave. Hopefully we will not be waiting for too long, as we are all pretty impatient right now :)

Welcome To Holland

Sunday, October 23, 2011 7:56 PM, CDT

So I should be working on homework right now... Well I kind of am in a way I guess, applying things I have learned and acquired in my classes to personal experience right? :) I am going through some stuff from old classes and I came across this.   I remember thinking it was a nice piece, but I would never have imagined it would have any application to my own life down the road. Funny how things come back around...

Welcome To Holland

Emily Perl Kingsley 

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland.”
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place…
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned.“ And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very, very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Sunday, October 23, 2011 11:19 AM, CDT

Getting closer....

Wow I cannot believe my little baby boy will be halfway through his first year on Tuesday!! These last 6 months have flown by, but I am so very thankful for every minute with our little man and I hope for many, many, many more to come! Tuesday is a big day for us as we will be leaving for Rochester that day also, in less than 48 hours from now! (Yikes I better get motivated to finish getting everything ready!)

I'm not sure if Zackary is just sensing our nerves about this trip or if it is from the way his epilepsy evolves as he grows, but his seizures have been changing a little lately. He normally clusters his seizures together, going back to back with little break in between, lasting around 5-6 minutes at the most lately, but usually only 3 or 4 minutes (which is a large decrease since he started the Ketogenic diet). But recently his clusters have been spacing out more, sometimes going 5 or 10 minutes between seizures, making it hard for us to decide if it is more than one set of seizures or one long cluster. Our typically happy, content little guy has also been more fussy than normal lately, so we are hoping they can try to pinpoint what new things are going on with his seizures, and if any of it is related to his irritability. Hopefully it is simply my little guy just getting some more attitude, not that he’s lacking any there this last month :). Mayo seems to be coming at a perfect time to help us understand the new changes better, and we have been told that when he's 6 months old the MRI should be able to reveal more as his brain will have grown so much since his last MRI at 5 weeks. We are hoping this is the case, and even more so that this test will be able to locate the source(s) of Zackary's seizures, but we know that may be a little bit of a long shot.

I will do my best to update about our schedule and any news we hear as we make our way through our long 10 day trip. Thank you to everyone for keeping Zackary and our family in your thoughts and prayers, especially as we head out on this adventure!

Friday, October 14, 2011 8:56 PM, CDT

Mayo it is!

Change of plans. We found out that Boston wanted us to come out for a consultation only; there would be multiple visits to Boston and it could take a while to get everything scheduled with them. This was very discouraging news for us because this is not the process we were told about and we were looking forward to going to the best, but we were offered a spot at another really great place that could get us in this month. So it looks like we will be heading out to Rochester to visit the Mayo Clinic!

As of right now the plan is that we will be there from October 25-November 3 going to appointments and having lots of tests and lab work done. They want to admit Zackary to the hospital on Halloween to put him on a continuous EEG, and he will be there for probably 2-3 days. After the hospital stay we will have a final appointment and then get to head back home.

Even though it is not what we had been originally hoping for, it is still an amazing opportunity to have some of the best doctors in the country meet Zackary and try to figure out what could be going on with him. I have heard great things about Mayo and we are looking forward to visiting it for ourselves! I love to travel but have never been to MN, so I am excited to see a new place! It is not the way we had planned to go on our 1st family vacation or to spend Zackary's 1st Halloween, but we are hopeful the trip will be worthwhile and maybe help us find some answers or more effective treatment options.

Monday, October 10, 2011 11:59 PM, CDT

Getting the hang of things...

 

Welcome to Zackary's page! I have been meaning to create on of these for a while now to help keep everyone updated on the happenings of Zackary's life. Right now I am watching him on the monitor, snuggled up in his swaddle blanket asleep in his crib. We had a pretty good week this past week. We had Zack's first set of pictures taken since he was born, and though it started out a little rough, he decided it wasn't so bad and that he would cooperate, well a little at least. The photographer was very patient though and seemed to get some good shots, so I am very excited to see the proofs tomorrow! We also went to Red Barn Farm in Weston with Zack's grandma and grandpa Combs. It was a little warm and windy out for October, but we had a good time. Zack really seemed to like the hayride; the pumpkins however, not so much :).

Things have been a little crazy lately with trying to figure out what is going on with our little man. We have already been through a number of tests, with even more yet to come. He is currently scheduled to have another EEG and MRI, as well as a muscle biopsy at Children's Mercy. We are still trying to get a diagnosis, and even though we have an amazing neurologist now, we are looking for some more help from other places. We are currently waiting for all of the behind-the-scenes stuff to get done so we can head out to Boston Children's Hospital. We are hoping that since they are the hospital with the best pediatric neurology clinic, they will be able to give us some answers and help Zackary feel better.

Transitioning Over...

This will be my attempt at a blog that is a little more complicated than Caring Bridge; we will see how it goes. I am going to import my old posts from that site, to help me keep everything in one place.  The idea behind this site is that I will have more flexibility and be able to knock out a few birds with one stone: documenting changes and results to help us keep track of what's working and what's not, to connect and share experiences with others who are going through similar situations, and also to help us stay connected to friends and family.  I like the idea of multitasking and documenting everything, so I am hopeful that I can figure this out!