Verdict from Mayo Clinic was that he does not have this… instead they found he has Optical Nerve Hypoplasia. Please read the “What Mayo Clinic Did for us” Page
Im still learning about this so I will give you all what I do know 🙂
So after the NICU… we came home and Zane was very irritable. I didn’t remember him being this way in the NICU but I wasn’t able to sleep overnight in the NICU either. So he cried a lot at night and he cried the whole time in the car. He didn’t sleep very well. He would sleep for 20minutes and wake up and he had no specific reason for waking up sometimes we would just pat his back (like burping him) and lay him back down and get 20minutes more rest out of him. Otherwise I would hand him his NUK every 5minutes as he’d be happy with it and fall asleep then spit it out and wake back up. There were certain times I could get him to sleep for an hour straight but then his alarm for feeding time would go off and I’d have to get up to start his pump, then get up one hour later to shut it back off. SO even when he would actually sleep, I could not. It was so hard! But we were pending for possible Costello Syndrome and they all told me that was typical for Costellos and often Costello Kids need anxiety medication just to sleep.
So I continued this schedule, but one night I was filling up his feeding bag, I just hit “Run” and went in the kitchen to go rinse the bottle i was using. His apnea monitor started alarming. It was the first time I heard it go off. (Read the Laryngo & Trachea Malacia section to see why he was on an apnea monitor) Well it alarmed for high heart rate (over 220bpm) instead of breathing so i was taken aback and didn’t expect that. He was really mad and seemed hungry so I thought it was just that. I calmed him down and it didn’t go off again. UNTIL the next night… same thing happened, same time! So I thought maybe I needed to switch his feeding schedule. He was on every four hours so maybe he needed to go up to every three hours? So I called the dietician. She gave me all the numbers and the okay to switch things. So I did and that night I saw the scariest thing I ever saw. He woke up same time as usual, in a panick. I decided I needed to record a video to show the doctor what was happening and to post on youtube to ask the other Costellos if they recognize this behavior as normal. When the light on the camera turned on… I could SEE what was happening, not only feel and hear what he was doing. Thats when I saw his eyes bouncing all over and he was sweating profusely, breathing heavy, heart racing… he looked like he saw a ghost. He looked terrified.
When I posted it on facebook to ask my friends what they thought it was… a lot of people seemed to think it was a sign of hydrocephalus. So I took him to the E.R and said I wanted a CT Scan and checked for hydrocephalus. Also knowing this was a risk for Costello kids I thought… go figure we get another big issue right away… but still feeling like this is normal Costello stuff. He is also at risk for Chiari Malformation so I asked if they could check for that too. They said they would have to do a brain MRI in order to catch that. The CT Scan showed he had empty space in his subdural area. The ER staff quickly jumped to conclusions and said it was a brain bleed. Neuro then looked at the scan and felt they need a brain MRI in order to tell what it truely was. So we were admitted into the hospital. I stayed overnight there and he was having attacks all night where his heart would sky rocket 205-215bpm after every feeding. He wasn’t quite hitting the 220 where his apnea alarm goes off but close to it. That was quite concerning to me that he was getting that upset. In the NICU he would not get upset to this point. So the following morning they sent him for an MRI. We waited all day and he had to be intubated for it which swelled up his airway of course. He came back to his room and I stayed overnight with him again. AGAIN he sky rocketed and panicked all night. Neuro came in right away in the morning and told me his MRI didn’t look any different than his old MRI. He did not have a brain bleed, hydrocephalus or chiari. The empty space was a normal amount for a baby. Hmm? now what? I asked the residents how i could get anxiety medication, told him the attacks keep happening… so they prescribed him something and the following night he slept wonderfully! So at this point Im still thinking this must be normal Costello Kid stuff and I just have to get used to it. I was so happy to see him finally sleeping. I could pick him up and he wasn’t thrashing… he just lay in my arms and I think i had a few happy tears. It felt so good to hold him again and to see him enjoy that. That day his entire team was called in. Anytime you stay in the hospital… your whole team of specialists all need to come in and see him and get updated and see if anything needs to be done on their part. Oncology came in…. and they said…. “That looks like Opsoclonus Myoclonus Syndrome” and they went back and discussed it with their team, came back asked more questions…. a lot of back and forth. and determined he did have OMS. His ENT came in also and we had to have another surgery done at this time because the MRI he had did swell up his airway more… we did IV steroids over the weekend… they said they may possibly need to do a tracheostomy and they discussed everything with us. (more in Laryngo & Trachea Malacia section). They ruled his airway as number one priority. Zane was sent for more CT Scans by Oncology to double check he didn’t have any new tumors. During that scan they found no tumors! BUT they got a closer look at how dangerous his airway was. They also saw a little intussusception in his small intestines which went away by itself. So we went to surgery, ended up not getting a tracheostomy… he had a supraglottaplasty (Again read more in the Laryngo & Trachea Malacia section)done and we transferred to the PICU (Pediatric Intensive Care Unit) he recovered for 3 days and we went home. While in the PICU oncology further explained OMS to us and told us that they don’t have anyone who specializes in that at Children’s Hospital and we would need to make a trip to see a doctor who does. 😦
What is Opsoclonus Myoclonus Syndrome?
2-3% of kids who get Neuroblastoma will also get OMS. It is when the body builds antibodies to attack the tumor and the tumor is then removed…. the antibodies start attacking similar nerve tissue which is the brain. So in a nutshell: His immune system is attacking his brain. 😦
So how do you fix it?
Well it is not cureable but it is treatable. With treatment it can make a lot of the symptoms subside, but they will often relapse several times throughout their lives.
There are several factors for treatment…. Triple Treatment is often recommended. That means three types of medications.
You can do either ACTH or steroids. Steroids over a long period of time can cause diabetes, cataracts, high blood pressure, osteoporosis. So the one we will hopefully be doing is ACTH. Adrenocortropic hormone. This is a shot I would have to give him at home every single day. By myself. yes, that is kind of scarey! I don’t want to be the one to hurt my baby 😦 But the side effects of steroids is too much.
The second one is IVIG. It is a blood product consisting of human antibodies collected from over a thousand donors. Thats a lot of different people… i sure hope they know what theyre doing when they make that stuff! This one would be an IV Bag once a month. In between this treatment he needs to have blood tests every couple weeks so they also recommend getting him a central line. A central line is basically and IV on his chest that goes to his heart that he keeps there all the time and can go home with. They can administer medications through it and they can even draw blood out of it. So he would no longer need to be poked constantly! Unfortunately the ACTH is an intramuscular shot so I still have to poke him for that 😦
Third treatment is Chemotherapy. This is the type of chemo that does not make your hair fall out or cause vomitting. It is commonly given to transplant patients to suppress their immune system so they don’t reject their new organ. They would be using chemo in Zane’s case to suppress or slow down his immune system so it’s not attacking his brain as fast.
The IVIG keeps his immune system busy attacking something else and between the ACTH And chemo it would slow the immune system down. The problem with chemo is…. it increases his risk of getting cancer again, and if he is a Costello just say…. he already is at a high risk so avoiding chemo treatment if possible is a big deal in Zane’s case. OMS also increases his risk of getting lymphoma which is one of thee most scariest cancers i can think of.
During treatment Zane will have basically no immune system. Any Viral Illness could kill him and he cannot be vaccinated for the rest of his life ! OMGOOODNESS! So he cannot get chicken pox, mono, RSV, pneumonia, viral infections like yeast in his lungs or brain, etc. SO now where can I buy a bubble for son? seriously.. this is going to be a hard job. Treatment can take 1-5 or even more years.
Well now we know what it is and how to treat it so whats the problem?
Problem is…. there is no one in Milwaukee that specializes in treating it. Our oncologist and neuro team are willing to administer the medications, but they need Zane to visit a specialist so that doctor can then tell them what they need to do to help Zane get better. And at some point he may need to travel back to be evaluated on how well it’s working….
So there is a Dr. Pranzatelli in Springfield, Ill which is a four hour drive. We are set up for an appointment to see him Dec. 6th.
However I have not heard the greatest things about him so Im trying to also talk with a Dr. Mitchell in LA. If I were to go with something like LA…. I will hopefully be able to work with Miracle Flights and Ronald McDonald House along with the donated money everyone has been so graciously helping us with right now. If I go with Dr. Pranzatelli… I will be using the donated money for gas, and meals and stay at the Ronald McDonald House down there. There is also a Mayo Clinic in Minnesota I’m checking out now that does all sorts of testing to make sure you have it, and to what extenet and that helps figure out the best treatment plan for that person. Im leaning towards this option…. it’s a matter of setting it up now.
And that is where I’m at right now. There are also many more blood tests and possibly a spinal tap to further check how bad Zane has this auto immune disease and know more about how to treat it. If his B Cell Count in his spinal fluid isn’t bad… we can possibly skip chemo without even thinking about it. But this is the journey we are on now. Please pray for us! and if you want to know how you can help click here. Thanks!