Catching Up

It has been a crazy couple of months. More crazy than usual. With a new diagnosis and lots of testing for new symptoms as well as two hospital stays and 3 or 4 clinic appointments every week. We have not had the energy to think let alone write. And I will be honest- this newest bout of worry and testing left me in a dark place mentally. Actually that is not true. It was more seeing Zoe suffer. Seeing her cry for hours on end and not smile. Seeing her so sedated she could not even lift her head or open her eyes for three days straight. It just broke my heart and anything I would have written during that time would have been dark thoughts. I was not able to see the good side.

But now, we are starting to get to our new normal. Zoe is doing much better. It still breaks my heart that she is not back to who she was before all of this happened, but more on that later.

The Good, The Bad, and The Beautiful

Along with many new appointments, Zoe had her regular check ups and we have received some really great news lately.

The Good

Cardiology- Zoe's cardiologist said that her echo was pretty much the same as last time and he is so happy with how stable she is that we don't have to see him for a WHOLE YEAR!!!! He also mentioned that if children are going to have serious problems from LVNC, it usually happens by now so he believes that Zoe will keep on going on this level for "a while." I am not sure how long "a while" will last but I'll take it!

Neurosurgery- Due to Zoe's change in symptoms, her MRI of her spine that was supposed to happen this summer got moved up to the end of January. The good news is that the syrinx (collection of fluid) in her spine is pretty much as big as it was last year. Because the neurosurgeon feels that her spine is stable, he said we can wait THREE YEARS!!!!! for the next MRI and check up with him!

Chest Team- Despite Zoe being hospitalized twice and having viral infections that normally cause pneumonias in a child like her, Zoe has been doing really well lung wise. She had her normal three month check up with the chest doctor who felt that Zoe's lungs are stable enough that she no longer needs to be followed by the chest team!!! We will continue the puffers and daily chest physio until May. We will stop the puffers in May but continue the chest physio and see how Zoe does. The complex care team who normally follows Zoe will follow up if Zoe suddenly starts getting infections again and will refer us back to chest if need be. We are very hopeful that now that Zoe is older and stronger the pneumonias will continue to stay away. We have been very happy with how her chest has done this winter.

4 Year Check Up- Zoe had her 4 year check up at her paediatrician's last week. As always, she did amazing with the shot. I think the resident was surprised at her lack of crying. The paediatrician feels that Zoe is doing really well except sleep issues (more on that later) and won't need to be seen for six months for a weight check. Since we will be bringing the new baby in at that time, we figure we can just throw Zoe on a scale at the same appointment.

The Bad

Epilepsy.

I hate that word.

Ever since Zoe was diagnosed with 1p36 I have been in fear of that word. When other parents talked at the conference about their child's seizures I tried not to listen.

Both Gavin and I have worked with children who seizures won't stop with medications or brain surgery. Sometimes those children seize themselves into comas and eventually death. That is what epilepsy means to me.

Gavin and I have both suspected that Zoe might be having seizures for a little while now. When did we first suspect? the doctors all ask. I can't really put my finger on it. It was more of a feeling. But I reassured myself that I was just afraid and Zoe was fine. She had an EEG when she was around 18 months that was normal.

So we were safe from seizures.

Most seizures start in infancy. Zoe is almost 4 years old.

So we were safe from seizures.

On January 5th Gavin called me at work and said what I knew was coming, "Zoe just had what I am pretty sure was a seizure. It was classic Genevieve, it was definitely a seizure."

I did what I do in any Zoe crisis, I started thinking like the medical professional I am trained to be. I called her doctors, asked when we could get seen, should we just go to the emergency room? It was decided that we would see a neurologist in the community, hopefully the next day.

That night was awful, Zoe kept having seizures and at times stopped breathing. We brought her into our bed just to keep an eye on her. The next morning we thought "No way are we waiting for an appointment, we have to take care of this now."

I called Zoe's paediatrician, it would be at least three weeks before seeing a neurologist. No way were we waiting that long. I called Zoe's complex care doctor and said, "We are bringing Zoe to the emergency room in the next hour." He agreed with the plan and said he would do everything he could to speed up our seeing a neurologist.

We were quite impressed with how quickly things happened that day. Within six hours, Zoe had an EEG, an neuro-exam, an official diagnosis of epilepsy, and a medication plan. An EEG measures brain waves. Even if Zoe did not seize during the EEG, the brain waves will be different if she is having seizures at all. Zoe's EEG showed spikes in her left frontal lobe. Which confirmed the type of seizures we were seeing. So given what we were seeing and what the EEG showed, the neurologist was certain that Zoe was having seizures.

Now the tricky part- around the same time we started suspecting seizures, I noticed that Zoe's eyes would "jiggle." Zoe's eyes never did this before. When Zoe was in the hospital in December, I noticed her eyes were really jiggling around. I thought perhaps it was fatigue induced. I pointed this out to the neurologist and they were very interested in Zoe's eyes. They asked repeatedly, "Are you sure that this is a new symptom? Has Zoe ever been diagnosed with nystagmus before?"

Gavin and I know enough about health care to know it is not a good sign when the doctor gets interested in a symptom. But the neurologist just said, "Call Zoe's opthomologist right away and tell him." So we figured, probably just her eye muscle getting weak. Zoe has dry eyes from not producing tears, perhaps the cornea has weakened? Who knows, what the heck do we know about eyes?

I should have known (and I did suspect but was busy dealing with Zoe's 7-9 seizures a day at home as she adjusted to the medication) that jiggling eyes was more serious than a weak eye muscle when I called the opthomologist's secretary on Friday and she got back to me right away and said, "Come in Monday." Still, we were not prepared for what he would say on Monday.

To summarize, because I realize my story is getting lengthy here- the opthomologist, who also called in a neuro-opthomologist who works with the onco-opthomologist said that Zoe's sudden onset of what they then called nystagmus but later was called opsoclonus because of a change in the frequency and direction of the jiggling (only significant if you are a cancer specialist) could be caused by one of three things:

-the syrinx in her spine grew and was now putting pressure on the bottom of her brain (we have now ruled that out with the MRI)

-pressure in the brain from something growing there, ie brain tumour (we have now ruled that out with the MRI)

-neuroblastoma which is a type of cancer of the neuron cells (we finally ruled that out after a very stressful few weeks of thinking the worst)

So where does that leave us now?

Zoe having sudden epilepsy is not a surprise given how many children with 1p36 have it. Now that we have ruled out any issues in the brain (Zoe has some brain malformations that make her more susceptible to seizures but these are the same ones that were there when she was an infant. She was born with her brain like this and it will always be like this) we won't be looking to any other causes. We will treat the seizures with medication and see how things go.

The jiggling eyes/nystagmus/ opsoclonus is still a mystery for now. We are waiting to hear back from the neuro-opthomologist but we are very glad that they have been wrong so far. Perhaps this is just one of those things that we won't figure out. And we are ok with that now that we know it is not something serious.

Hospitalizations

I mentioned Zoe being in hospital- she was hospitalized the week before Christmas due to Influenza A, a possible chest infection, and a possible urinary tract infection. That was a pretty typical hospital stay and Zoe did great eating and drinking when we got home so we didn't even have to put in the feeding tube to everyone's surprise.

Mid to late January Zoe's seizures become worse and were lasting longer. She had a 27 minute seizure that led us to taking her to the emergency room since we did not have any emergency seizure meds at home. A day later Zoe had an 8 minute seizure followed by a seizure that was lasting more than 5 minutes, we gave her the emergency med but the seizure continued for 11 more minutes. We ended up calling 911 like they told us to do but the seizure stopped as they were pulling up to the house. Zoe did have a short seizure while they were assessing her but she seemed ok so we declined the ride to the hospital. Within a few hours though we were worried because Zoe was working hard to breathe. She had full anaesthesia earlier that day for her MRI and we were wondering if this sedation drug on top of the drugs still in her system from earlier was causing her problems. So back to the emergency room we went. Zoe ended up in hospital for the week. They gave her a big IV dose of a seizure med that sedated her for two days straight. We gave her one dose of the med orally but saw that it was sedating Zoe way too much. So we changed to a different med that so far seems to be working. So Zoe is now on two different seizure meds and we have seen about one seizure a week, which is great. While hospitalized, Zoe was running high fevers so they tested her and found that she was positive for RSV and a bladder infection. Which could have caused the increase in her seizures. We were told any time Zoe gets sick (which is often in winter) she may end up in hospital with uncontrolled seizures. Now at least we know what to look for and have an emergency plan.

Sleep Issues

Ok, after writing all that, and after you reading all that (for those of you still reading this, perhaps some of you gave up long ago and just scrolled down to the pretty pictures) I don't want to get into details about sleep issues. I will do another post on that later. But to sum it up:

Zoe has been screaming for hours in the night, waking several times in the night, getting too little sleep so that she is having trouble eating and is very cranky in the day since mid November. We all thought she was seizing in the night (and this still may be true) and then getting confused after the seizure but now that her daytime seizures are more controlled, she is still having serious sleep issues. So we are figuring that piece out but for now it makes it very hard since we are all exhausted.

And more frustrating, sad, and upsetting than being sleep deprived is to see the effect on Zoe. She is getting better now but still having trouble eating, is very cranky, not smiling a whole lot, etc. And it breaks my heart because I know my easy going, smiley little girl is in there somewhere. Where did she go and why can't she come back? Is this her new baseline? Is it a result of the seizure meds? Will we ever get her more sleep so she can go back to who she is/was? And most heartbreaking of all is Zoe clinging and crying when I drop her off at school. This was the child that would run off in her walker with hardly a backward glance. I miss that Zoe.

The Beautiful

Despite hospitalizations, new medications, personality changes, etc my Zoe is still here with us. I can see her come out some days more than others. And I live for those moments when I see her smile. She is strong, beautiful, and wonderful, just like always. And despite all of the challenges from the last few months, we have seen Zoe moving forward with her milestones! She is doing some amazing standing. She also loves when we hold her under her arms and walk her across the room- something she didn't have the strength for before.

Zoe always has and always will continue to amaze me. I know I am the luckiest mom because she is my daughter. And I know my life is so full of joy because of her. So of course I must share some cute pics with you all:

Grandma visited for Christmas this year. Zoe loved spending time with her and of course, exploring her face while giving kisses.

Zoe jamming with our friend Patrick from Philadelphia. Our friends Patrick and Amanda drove up for a visit. Gavin had put together a surprise birthday party for me. I was actually surprised!

Zoe playing with puppy while in her stander. I had to put this one in there, it was just too cute to leave out.

Zoe's new standing strength has really taken us by surprise. She is doing amazing with her standing physio routine.