Home Is Where the Heart Is

We were released from the hospital yesterday and our first night home went pretty well. Dominic went 13 hours yesterday with no spasms, but then six hours later had an episode. Dr. Arndt assured us it's still early and to not lose hope. We have to look at the overall trend over a few days as opposed to one day at a time. So, if two days from now he's had less episodes on average, that's a good thing. If they have not completely stopped after two weeks, they will probably take him off the ACTH and assume it's not working. At that point we would head to Detroit for a surgical consult, PET scan and second opinion from Dr. Chugani. He will also be scheduled for genetic testing to determine if he has some chromosomal abnormality that is causing the spasms. It's hard to pinpoint genetic disorders, but they want to test, just to rule other things out. If it is a genetic disorder, there isn't anything different they would do to treat it, it would just give us an answer. We're reminded once again what a guessing game this disorder is.

Getting his hearing test

While he was in the hospital, the Infectious Diseases doctor put him on an anti-viral because of the CMV he had in his blood/urine. Even though his levels were low, suppressing his immune system with the ACTH could cause the virus to reactivate. He also mentioned that congenital CMV can cause permanent hearing loss. So Dominic had a hearing screening, similar to the one he had when he was born (which he passed then). Unfortunately, he failed this one and now has to have a diagnostic hearing test to determine if he does in fact have hearing problems. Mike and I looked at each other like "great, add it to the list". This poor kid, how many more things can we find wrong with him this week!

Our visiting nurse came this morning and says I'm already a pro at giving the injections, I guess that's a good thing. Dominic is a champ when it comes to getting them too, he didn't even cry this morning! He actually hates getting the other 7 medications more. We can tell he's happy to be home and off all the monitors and wires. He just seems so at peace in our arms, in his own house. He's not as cranky and irritable as I expected, although I'm told it might take a few days before that kicks in. He was actually alert this morning and I even caught a few smiles!

Hit Me With Your Best Shot

Well, we're back at Helen DeVos Children's Hospital and began the ACTH treatment today. They have him all hooked up to the monitors and has had a chest x-ray, urine sample, blood draw (which again, they had to poke him 4 times to get enough blood) and his first dose of ACTH. After they finally got enough blood,  he just looks over at me with sad little eyes and gave me this look like "Not again, Mom! Why are you doing this to me??." It is so incredibly hard to watch him go through all this and know there is nothing I can do to make the pain stop. The poor thing, I don't know if there is any place that he hasn't been poked and prodded.

Mike and I spent part of this afternoon practicing drawing from a vial and learning how and where to give the shot. I'm petrified, I can't believe they think I'm qualified to give him two shots a day! You have to be so careful to keep everything sterile and not touch anything that will touch him and you have to give the exact amount. It's not like accidentally giving too much Tylenol. It's a good thing they are setting us up with a visiting nurse when we go home. He or she will come 3 times a week to monitor his blood pressure and glucose levels and other vitals. All of this just makes me really nervous for the coming weeks. Besides the irritability, high blood pressure, diabetes, low immunity, ulcers and insatiable hunger I've been warned of, there is just so much that goes with caring for him during this treatment. I have to test his urine everyday, his blood pressure 3 times a week, watch like a hawk for the first signs of infection and give the shots twice a day. Besides the ACTH, he will also continue to take his Topomax, Vigabatrin and Carnatine and they're putting him on a stomach protector to hopefully avoid ulcers. I can't really take him anywhere because of the risk of infection, so I'll basically be a hermit for the next 6 weeks. I will welcome visitors :o) On top of all that, I have to try to find time to care for his 2 1/2 year old big brother! I am just praying for peace and strength to get through the next several weeks. My biggest fear is that after putting him through all this hell, the spasms don't stop. I honestly don't know if I will have the strength to handle that.

Dominic has continued to have the spasms today, but it's not surprising. They hope to see a decrease in them by day 3 on the ACTH, but we may not really know if it's working until after 2 weeks. The goal is for the spasms to stop and wean him off the Vigabatrin, then ACTH and have him continue on the Topomax indefinitely. I'm trying not to get my hopes up that this will stop the spams. Maybe that way, if I'm prepared for the worst, I'll be pleasantly surprised.



On a final note, Mike and I just wanted to thank you all for your prayers. I swear half of America is praying for him. From our family and closest friends, to incredible co-workers, to complete strangers, there are SO many people praying for him. Just last weekend, the Archbishop of Chicago was visiting our church and he blessed Dominic and said he would hold him in his prayers as well. We feel so fortunate to have such an incredible support system, so thank you all so much!

We've Got a Plan

Mike and I met with the Neurologist on Monday and set out a game plan for Dominic's treatment. Because they haven't received all the test results back and they still don't know what is causing the spasms, there are several routes we will need to start down before we know what the best treatment will be.

The plan starts with adjusting the dose of Vigabatrin. Sometimes if a baby is on too high a dose, it can actually have the opposite effect, which is what he thinks happened. So, he lowered the dose and will monitor him over the next few days. He's keeping him on the Carnitine supplement as well, since the second round of lab work revealed he still had low levels. Dr. Arndt does not believe this is what is causing the spams, simply a secondary deficiency. We're going to talk Friday to see if we continue on the Vigabatrin at the same dose over the weekend or up it. Next week he'll probably determine if it's time to switch to the ACTH steroid treatment. In that case we'll be admitted back to the hospital to begin treatment.

Dr. Arndt decided that the Vitamin B6 and Pyradoxine weren't really having an effect, so he took him off that on Tuesday. Which is good because it's a lot less meds to fill up his little tummy.

Dominic had an EKG and an ECHO Cardiogram on Monday to make sure everything looked okay. I guess an enlarged heart can be associated with some metabolic disorders. Everything looked normal, which is great!

In the meantime, since a closer look at the MRI showed one side of his brain is slightly asymmetrical, Dr. Arndt is referring us to Dr. Chugani in Detroit for a PET scan and an evaluation of potential brain surgery. He will evaluate Dominic to see if surgery may be a solution. (Here is an article on a child he treated with the same condition that was successful). So, sometime in the next few weeks we will be heading to Detroit for that.

Though we are still waiting for all of the results to come back from the metabolic workup, we will also be consulting with a Metabolic specialist who will also evaluate Dominic.

The last couple days Dominic has been doing okay - no better, no worse, seizure wise. He has been eating much better, which he was struggling with since being in the hospital. We did some tummy time today and he wasn't able to lift up his head. I know this is all part of it, but it's hard to see that he's already regressing. The Occupational Therapist comes tomorrow, and will be coming once a week, so hopefully she can help get him back on track. He has been more alert and "with it" since he started on the lower does of Vigabatrin. I'm starting to see again some signs that my little guy is still in there :o)

And the Journey Begins

So, I did it. I decided to jump on the blog bandwagon. I'm doing this mostly for myself, as a sort of journal, but also for family and friends to follow Dominic's journey with us.

Dominic was born September 29 of this year a perfectly healthy 7 1/2 pound baby boy. The first few weeks were exhausting with a newborn and getting used to having two kids. But overall, Dominic was a very typical baby. The day before Thanksgiving we were in Naperville and he had what I thought was a seizure. Over the next few days he continued to have more and more. When we got home Saturday, we called the Pediatrician and after taking one look at him, sent us straight to Helen DeVos Children's Hospital in downtown GR.

His fist couple days in the hospital he had an CT Scan, MRI Lumbar Puncture (spinal tap), blood work and a 36 hour EEG in hopes of finding what was causing the the seizures. Based on his EEG they saw he was having complex partial seizures as well as numerous clusters of spasms. He was put on phenobarbital and a slew of other meds before they finally diagnosed him with the catastrophic epilepsy disorder called Infantile Spasms.

While Infantile Spasms don't sound all that bad, it is actually a rare form of epilepsy that affects only 4 out of every 10,000 births. It's considered "catastrophic" because it is very difficult to treat and has a pretty poor prognosis. Most children with infantile spasms are mentally retarded later in life. Those whose spasms are related to an underlying developmental brain disorder or injury have a higher likelihood of moderate to severe retardation. The outlook is brighter for those who were developing normally before the spasms started: 10 to 20% will have normal mental function and some others may be only mildly impaired. Some children with infantile spasms develop autism. Many doctors believe that the quicker the seizures are controlled, the better the results will be. There are two categories of IS - Etiologic, which means an underlying cause is found, or Cryptogenic, in which a cause cannot be identified.

So, after finding out this news, my heart nearly broke in two. I could not believe that my perfect little angel was faced with such a horrific prognosis. They began treating him with Vitamin B6, Pyridoxine and Topomax. He responded a little to the Topomax and the spasms lessened a bit. But within a day, they were back to full force, even worse than before. They then decided to put him on Vigabatrin, which is a pretty heavy duty drug that was just approved by the FDA in 2009. The biggest side effect is permanent peripheral vision loss. He seemed to do well on it and they released us from the hospital after 6 days (on my birthday!) and sent us home to continue on the Vigabatrin as well as the 3 other meds.

The first few days were amazing! He had maybe one spell of just a couple minor spasms. The medicine was working! Praise God! He was smiling and cooing and alert and I was overjoyed. We started Occupational and Physical therapy immediately and they said he looked great. He was behind a little in some areas, but considering his prognosis, he seemed to be doing very well. Sadly, 4 days after starting the Vigabatrin the seizures and spasms returned. Small at first but then became more severe and we were back at square one. Last week he went back to the neurologist for another EEG. It showed that not much had changed, but they didn't see any Hypsarrhythmia, which is chaotic brain activity consistent with IS. This is great news! However, if the spasms don't stop, it will eventually show up.

So far, everything has come back normal - MRI, CT, spinal fluid, blood work with the exception of one thing - his Carnitine levels came back low. I won't go into what Carnitine is, other than to say that it has something to do with amino acids and how energy is used in the body. They took more blood on Friday to re-test, just to make sure it wasn't just a fluke and put him on a Carnitine supplement over the weekend. We'll see if it helps.

So, this leads us to today. Dominic is still having a lot of spasms and seizures and at times I lose hope. We are meeting today with the neurologist, epileptologist, and metabolic specialist to determine which path to go down for Dominic. The next logical step if they don't keep him on Vigabatrin is ACTH, which is a steroid treatment. It has some severe side effects (major weight gain, diabetes, hypertension, irritability etc.) and it needs to be injected into his thigh twice a day. It would mean another 4 day stint in the hospital and then me giving him the injections at home after that. They will also be setting up an extended EEG that will last a couple days. There are other medications as well as a ketogenic diet to try if the ACTH fails. It seems to be a game of trial and error at this point.

It's hard to believe this all just started 3 weeks ago. It has been quite a whirlwind and a huge emotional roller coaster for our whole family. While Dominic is much of a question mark at this point, one thing we know for sure is that our Almighty God is holding him in the palm of His hand. He knows the plans he has for Dominic and for our family. We are holding tight to this promise, knowing that God has given him to us for a reason and we feel privileged, as parents, that God has entrusted him into our care.