Now What?

Thankfully, we were released from the hospital last night. But we don't have many answers or any idea of what to do next. The neurologist we saw, who is a partner of Dominic's doctor, believes he has an underlying metabolic disorder. He came to this conclusion based on where the damage is in his brain and the results of some of his metabolic testing. Of the hundreds of disorders they tested for, some came back abnormal, but none came back diagnostic. But he believes his symptoms, including the IS and seizures, are consistent with Mitochondrial Disease. I didn't really know what a metabolic disorder was, so I turned to the Internet and found that metabolic disorders refer to a broad array of medical problems caused by inherited genetic defects that interfere with the body's metabolism. While there are thousands of metabolic disorders, each caused by a different genetic defect, they cumulatively affect about one in every 4,000 people. Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.

Glad to be home, in our own bath

The Internet can be a good and bad thing. I got my answer but I also read about a few of the more well-known metabolic disorders. Take Tay-Sachs Disease for example - this is a deadly disease of the nervous system in which the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, especially nerve cells in the brain. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.

You can imagine how I felt after I read that. While I don't believe Dominic has this particular disease, I've realized that a metabolic disorder is a pretty scary diagnosis. It's very difficult to figure out what metabolic disorder he has because there are thousands of them. And the devastating part is that even if they can eventually find out what disorder he has, there is no way to treat it. It's just the way his body works and there is nothing they can do about it. I asked the neurologist if the damage to his brain is reversible and he said no. Of the parts that were damaged (which is at the top of the brain stem), some cells were "dying" but not dead. So, those could potentially get better. But most of the cells are "dead" and there is no way to reverse that damage. I asked if there could be further damage and he said that is a good possibility. If it is something metabolic that is causing a lack of blood and oxygen to his brain, there isn't much they can do to stop it.

Because he thinks Mitocondrial Disease is a possibility, for now, the plan is to start Dominic on a Coenzyme Q "cocktail" consisting of vitamin B6, Arginine, Coenzyme q10, folinic acid, riboflavin, and thiamine. While there is no cure for mitochondrial disease, many types of the disease including mitochondrial myopathy, mitochondrial cytopathy, MELAS, PDCD, or Complex I, II, III, and IV are responsive to specific vitamin and supplement therapies. He is also recommending Dominic begin outpatient occupational and physical therapy at least 2-3 days a week at Spectrum, in addition to the therapy he already gets through Early On. This can only increase his chances of development. He will discuss everything with Dr. Arndt on Monday and figure out where they want to go with further metabolic and genetic testing. Dominic will also have another MRI in 1-2 weeks to see if things have gotten better or worse. We are scheduled to see Dr. Chugani in Detroit next week (3/7) for a consult as well.

Little Sweetie

I thought when Dominic was diagnosed with Infantile Spasms, that would be the biggest hurdle we'd have to face. When his spasms were finally controlled, I felt that finally we could move on and focus on the future. I thought he had a great chance of developing, albeit a bit delayed. Then came the long, scary seizure, then kidney stones and then the hematoma. Now this. I don't even know what to make of this or how to process this. There is absolutely no way to predict what his future holds. I'll be okay one minute and the next minute I start thinking about all this and I just fall apart. No one can give me direct answers and no one can reassure me that everything will be okay. I'm living in this constant state of uncertainty, anguish and fear. I know that I have to trust God and believe that he has His hands in all of this, but I can't help from throwing my hands up, yet again, and asking "why"? Why Dominic? Why does this little 5 month old baby have to endure all of these struggles. What is going to happen to him? Will he ever be able to function normally? Is he going to spend his whole life sick in and out of hospitals? How long will he live if his body can't make the energy for brain and organ function? It just doesn't seem fair. I would give anything to trade places with him, to be able to take all the needle pokes and tests for him. In a heartbeat I would unload this burden he is carrying and gladly take it on myself.

I am once again asking God for a miracle. Maybe more than one miracle in a lifetime is too much to ask for, but I'm going to ask anyway. We continue to ask our friends and family for prayers for Dominic's health, but also for our family. This doesn't just affect Dominic, it affects all of us. It's hard for Mike and I to focus on our other responsibilities with everything going on and it's hard for us to give the attention to Mitchell that he craves. I feel like I'm cheating him out of what he deserves. He shouldn't have to spend his days in doctor's offices and hospitals. But we're doing the best we can and I guess at this point that's all we can do. That and pray. Pray without ceasing.

It's Still Ironic

Just when you think things can't get any worse, they do. Just when you think you can't possibly handle any more bad news, you get it. We had an MRI for Dominic today that they did really just to make sure the hematoma in his brain that they found on the CT scan from last week was going down and to pinpoint exactly where it was and how big it was. After a long day of forcing my 4 month old to fast for 6 hours, enduring sedation, and spending 4 hours in the hospital this afternoon, I was ready to go home and enjoy a relaxing weekend. Within half an hour of arriving home, I received a call from Peds Neurology. They had reviewed his MRI. Prior to our discharge today, I was told I wouldn't get the results for 4-6 days. So, I knew when I got the call it wasn't good. The results of his MRI showed that he has significant brain damage in a deeper part of the brain, totally a separate issue from the hematoma. In most cases it's caused by an injury or stroke, but could also be from a lack of oxygen. The neuro on call thought it may be an underlying metabolic issue that caused the stroke/lack of oxygen/damage. Dominic has already been tested for hundreds of metabolic disorders, so maybe it's one they haven't tested for yet. They really don't know what's going on but are concerned this could happen again and cause more damage. So, he told us to head into the hospital to be admitted so they could monitor and evaluate him. The neuro on call will see him tomorrow morning and he wants to review all scans, ultrasounds, test results, medical history etc. to see if they can figure out what the heck is going on with him.

Guess who's back, back again

I honestly didn't know I could physically handle more bad news, but here I sit once again in the hospital with my little baby, waiting for someone to find answers. Somehow God gives you strength when you just don't think you can endure anything more. I guess it's a huge blessing they did the MRI today, since it was originally scheduled for March 15th. But at the same time, it's incredibly difficult to be told that your baby has brain damage.

I continue to ask for prayers as we now have to deal with this new issue. How to treat the damage he has and how to prevent any further damage. It seems that every time things seem to be turning around, we end up back in here with another problem. I don't know how much more I can take...

Paralysis, Hemtoma and Kidney Stones - Oh my!

Things are going pretty well this week, no trips to the ER and no hospital stays. We did see the Urologist on Monday and he feels that there is nothing to do right now. He's not in pain and since we stopped the Topamax, he is hoping they will dissolve on their own. We will go back in 3 months for a follow-up ultrasound to make sure they are not getting bigger. If they are, they will need to remove them. The way he described it, that does not sound like fun. Hopefully we can avoid that procedure. Both Dominic's Neurologist and the Urologist thinks it's best if he still sees a Nephrologist, so we're in the process of making that appointment.

I spoke with his Neurologist for awhile last night and he wants Dominic to have an MRI as soon as possible, which is this Friday. He thinks the hematoma in his brain was probably caused by the ACTH. I guess when you're on steroids, your brain swells and then shrinks. So, he thinks that some of the blood vessels in his brain that attach the brain to the skull tore a little when his brain shrunk...yeah, sounds a little scary to me too, but he said not to worry. Yeah, okay. But I guess it can happen and it's the only logical explanation since he did not have an injury and his blood work that tested for bleeding and clotting disorders came back normal. The MRI will reveal where exactly the hematoma is and how bad it is. He is hoping that if it was from the ACTH that come Friday, it will be much smaller or gone altogether. So, that's what we're hoping for.

We were supposed to have his diagnostic BAER test today, but due to a confusing and unnecessary scheduling mix-up, we now have it scheduled for March 17th. We still have our appointment with Dr. Chugani in Detroit scheduled for March 8th, although Dr. Arndt is leaning towards cancelling it since his seizures seem to be under control. But, we'll wait to see what the MRI shows.

Dominic's arm situation has gotten much better, so they are pretty sure it was just Todd's paralysis, which is temporary paralysis following a long seizure. It just seemed to take a bit longer to clear up than normal. He has actually been doing very well. Despite everything he's been through, he is such a happy little guy. Every time you look at him and smile, his face lights up and he has the biggest grin from ear to ear. Well, cheek to cheek I should say. His cheeks are so big they get in the way. He is getting much more active and is constantly kicking and grabbing at things, cooing and gurgling. His favorite thing to do is mimic me when I stick my tongue out, he thinks that's absolutely hysterical. He's also sleeping much better. Yes, he is still sleeping in his car seat, but he is now in his own room and after a few nights of crying it out, he goes for 4-6 hour stretches. This is amazing for me. For awhile he was up every 2 hours or so. It's amazing what 5 straight hours of sleep can do!

We are hoping to take a family vacation in the next few months to my parent's place in Florida, although I'm not sure his doctors will be okay with it. It just seems like a week away as a family is something we could really use right now and the warmth and sunshine wouldn't hurt either. Hopefully over the next few weeks we don't see any  more seizures or have any more unexpected trips to the hospital and the docs give the green light. I know this disorder is something we will have to deal with for a long time, but I would be really sad if it prevents us from going places and doing things as a family. So we'll keep our fingers crossed!

Your Hands

"When my world is shaking, heaven stands

When my heart is breaking

I never leave your hands"

The last week has been a whirlwind. We were released from the hospital late Friday afternoon and enjoyed a nice weekend at home as a family. We put Dominic in his excersaucer for the first time (see pic below). Since he can't totally hold his head up, we had to put a lot of pillows and blankets around him, but he seemed to like it. I'm hoping this encourages him to put weight on his legs and will strengthen them. It was so nice to just hang out as a family, we even got out on Saturday for lunch. I'm hoping my days of being a hermit are over.

Out lunch with the fam

Monday I spoke with Neurology and they said that the kidney stones were most likely caused by Topamax, which is one of the anti-seizure meds he's on. So, we are currently in the process of weaning Topamax and starting Keppra. The most common side effect of Keppra is irritability...great. I thought that was behind us! They also want him to see a Nephrologist and Urologist about the stones to see what they want to do about it. I guess they are pretty big and not sure if he can pass them. Yesterday, Dominic had an EEG in the morning and then got a call from Neuro asking us to head to the ER for a CT scan. Dominic has not been using his right arm and they think it's Todd's Paralysis, which is temporary paralysis after the long seizure he had. However, that should have cleared up within 24 hours. When we got the results back yesterday, they said everything on the left side of the brain (which would affect his right arm) was normal, but they found what looks like a hematoma on the right side. I'm told it's like a bruise on the brain that is usually caused by some kind of trauma or injury, which he hasn't had. So, they aren't sure where it came from. When we saw the Pediatrician today, he ordered some blood work to see if he may have a blood disease like Hemophilia, which could cause  the bleeding. In the meantime, Neurology is scheduling an MRI to look into it further.

Notice all the pillows and padding!

Back in the ER for a CT

This poor baby, it just seems like one thing after the other. We head to the Urologist on Monday to see about the kidney stones and he then has his diagnostic BAER on Wednesday. Hopefully the BAER can give us a better answer as to whether he has hearing loss or not.  He can't eat for 6 hours before and has to be sedated, so that should be a fun morning :o) I am trying so hard to take each day as it comes, but it just seems like things keep coming and will never settle down. Something new seems to pop up every week and I have spent way more time in the hospital and doctor's offices than I want over the past few weeks. There is this song that I love called "Your Hands" and every time I listen to it, besides bawling my eyes out, it reminds me that God is holding Dominic, and all of us, in the plam of His hands, and one day He will set all things right. One day there will be no seizures, no needles, no tests, no medicines, and no pain. In the meantime, He will give us the strength to get through all this.


I have unanswered prayers
I have trouble I wish wasn’t there
And I have asked a thousand ways
That you would take my pain away
You would take my pain away

I am trying to understand
How to walk this weary land
Make straight the paths that crooked lie
Oh Lord, before these feet of mine
Oh Lord, before these feet of mine

When my world is shaking, heaven stands
When my heart is breaking
I never leave your hands

When you walked upon the earth
You healed the broken, lost and hurt
I know you hate to see me cry
One day you will set all things right
Yeah, one day you will set all things right

When my world is shaking, heaven stands
When my heart is breaking
I never leave your hands

Your hands that shaped the world
Are holding me
They hold me still

- JJ Heller Your Hands

Heading Home

Thankfully, the plan is to head home today. Dominic got a head ultrasound last night that revealed the ventricles in his brain are a little asymmetrical. This doesn't necessarily mean anything, so they aren't that concerned. No brain bleeding, no masses, no stroke - so this is really good. He is much more alert today and moving around normally. Well, as normal as possible considering he is hooked up to monitors and an IV. 

Sleeping during the day, up all night

He has had high blood pressure since Wednesday, so he had more blood work and an ultrasound on his kidneys this morning. Everything structurally looked good with his kidneys, but they found that he has kidney stones. This may be the reason he has been so fussy the last couple weeks :o) We will follow-up with his pediatrician next week to see if this requires any treatment or if he has to just let them pass. Won't that be fun! 

Another EEG

They are pretty sure the seizures were caused by illness/fever, but they can't be sure. He has not had a seizure since we got here on Wednesday. They are sending us home with Diastat, which is an emergency medication, should he have another seizure that lasts more than five minutes. It's a gel that is given rectally; lucky Dominic. Again, we are hoping this is nothing new, but just related to illness. Of course, it worries Mike and I that this is something he'll always have to deal with. Are we going to land back in the ER very cold and flu season? Are we going to have to worry wherever we go? Vacations? School? We sure hope not.

Got Cereal?

A speech therapist came for a consult this afternoon regarding feeding. Mike and I weren't sure with his developmental delays and the fact that he can't hold up his head if eating solids would be a problem. Most babies his age are starting on rice cereal and baby food. I'm not all that concerned that he starts on solids at this point since he's a champ and breastfeeding. But, the therapist showed us the best way to feed him and the best positions, so this was a fun little event. He liked it for the most part. Just like his big brother, thumb went right in the mouth. 

Trying cereal for the first time

This has already been such a long road since November, the fact that he hadn't had a seizure or spasm in over a month was so encouraging. I think we felt like the worst was behind us. After talking to the neurologist this morning, it sounds like this could very well be what our life will be like for a long time. It's hard to say, everyone responds differently to meds, everyone develops differently, and the brain is so hard to understand. So, maybe he'll never have another seizure again, but chances are he will and this won't be our last stay at "Hotel DeVos". All we can do is keep moving forward and be grateful for each day he doesn't have a seizure.

Happy to hear we're heading home!

 

Isn't It Ironic?

Within five minutes of my post yesterday, Dominic had a seizure. It was a complex partial, that lasted about 30 seconds. We haven't seen these since he was first admitted around Thanksgiving. His eyes rolled back, his lip started quivering and his right arm and leg clenched up. I immediately called the Neurologist and he thought it might have had something to do with lowering his Vigabatrin the day before, although we didn't go down all that much. So, last night we went back up to his normal dose. Then, this morning, I woke up and heard Dominic breathing heavy and went to get him. He was having another seizure. This time, his eyes would roll back, then open and roll to the side and fixate. His entire right side was limp but his hand and foot would twitch every so often. He vomited twice. After 5 minutes, I called the Neurologist. I had never seen a seizure last so long. The nurse I spoke with told me to immediately call 911. They needed to send an ambulance to break the seizure right away. The ambulance and fire truck arrived pretty quickly (Mitchell was thrilled to see them in front of our house) and they checked him out. Apparently he's two young to receive the medication they would have used to stop the seizure, so they loaded him up in the ambulance and tried to start an IV (but couldn't) and we were on our way to the hospital.

He was still having the seizure when we arrived in the emergency room, so it lasted about half an hour. He seemed to go in and out of it, but it never really stopped at any point during that time. It's now 7:15 pm and we've been here since 9:30 am and he hasn't had another seizure. He had a low grade fever when we arrived here and has been having diarrhea. They think he may have a virus. Apparently if you are someone who is susceptible to seizures, any kind of virus or illness can lower your seizure threshold and you may have seizures. So, they aren't sure if the two seizures were from lowering the medication, a virus, a combination of the two, or something totally new. At this point they are monitoring him, pumping him with fluids and he will see the Neurologist tomorrow to decide what to do. He has been really sleepy and lethargic today, but I guess having a seizure for that long can take a lot out of you. It's funny being back here for the third time in 2 1/2 months, I know all the nurses and they know Dominic by name. They are all really awesome and take such good care of us. On a good note, if we have to be in here, at least we're in the new hospital this time. There is actually room for two on the pull-out bed here! Plus, the floor to ceiling windows bring in a little sunshine. We just hope to never have to see this place again.

Mike and I are hoping and praying that this is an isolated incident and that he's not developing another neurological issue. Keep the prayers coming, we really appreciate them, and we know they help. When one or more are gathered in His name, he hears. And I'm pretty sure we've got thousands of people praying. Thank you all so much!

Life is Beautiful

The past week has been amazing. Dominic has emerged as this whole new baby we've never seen before! He is laughing, giggling, kicking, and batting and holding his toys. His sleeping is a bit off. For some reason he can't get to sleep at night. Last night Mike had to take him for a ride in the car at 12:15 am. But, within a minute, he was out. He's up a lot during the night too, so I'm still not getting too much sleep. But I'm thinking as time goes on and he gets more on a schedule things will get better. He's had a couple of rough months, so I'll cut him a break.  His occupational therapist was here yesterday and could not believe he is the same baby she's seen for the last several weeks. She was so impressed by his interaction and progress. That's always a good sign! Sleeping aside, it is just incredible what a difference it makes to have a happy baby. I will never again take for granted each smile and giggle he makes.

My Boys

We head to the pediatrician tomorrow and next week Dominic has his Diagnostic BAER (hearing test) as well as another EEG. The couple weeks following he will see the neurologist, infectious diseases doctor and opthomologist again. Hopefully, if things continue to improve, the doctors appointments and lab work will start to slow down. As you can see from the photo above, he is still carrying some extra weight, although only in his face. The rest of him is pretty normal now. The neuro said it can take about a month for the swelling in his face to go down. He is also phasing out some of his meds. Now that he is off ACTH, he still stop the Zantac this week. Next week is his last week of Valganciclovir (anti-viral for the CMV) and he has also stopped Carnatine. His neuro also reduced his Vigabatrin dose yesterday as well. He still hates med time, but at least he's down from the 9 medications he was on.

Everything in general is looking up. There were a few weeks there I didn't know if I'd make it. I was consumed with fear, anger, anxiety and most of all, guilt. But now I am feeling much, much better and I am enjoying life again. Even with everything still going on with Dominic, I am happy again. Each morning I wake up and I am filled with pure joy when I realize how truly blessed I am. God has been so faithful and has carried us through some of the darkest months of our lives. He is working in our family in so many ways and I am looking forward to seeing what else he has planned for us. When I stand back and look at my life, I realize that life really is beautiful.

Progress

This will be a short entry, but wanted to share some of Dominic's progress. This is only day 4 off the steroids, but we are already seeing a different baby. His neurologist was very pleased with how he looks and how well he did on the ACTH. He said within the next couple weeks his development should take off. He's probably where he was at when the spasms started, developmentally, which is about 2 months. The chaotic brain activity from the seizures and spasms cause the brain to stop developing normally. So, now that they are under control, hopefully he'll be on his way.

Here is a video of Dominic on Monday, smiling and laughing. He has had a perpetual scowl on his face for the past 4 weeks. Now, he seems to get more social each day.




Today we played on his play mat and he started batting at toys. This is something he has NEVER done before!