Non-Diagnostic

It has been one week and two days since Seth’s brain biopsy and we have been waiting patiently to hear the results.  Today I decided to call and check in since another long weekend is fast approaching.  I called earlier in the morning and asked that one of the doctors call me back.

Around 2:30pm Dr. Wright called and informed me that the biopsy came back non-diagnostic and therefore they could not make a diagnosis.  The cells they had taken were normal cells found in the ventricular system of any persons brain.  I asked what that meant and she explained that they could not confirm the tumor is ATRT or another type of rumor and that the team feels an open biopsy, craniotomy, is the next step.  The same surgeon will be perform the procedure and this will include opening his skull to get the tissue rather than doing it endoscopically like they had before.  I asked how quickly this would happen and it could be as soon as next week.  It will be a several hour procedure and require being admitted to the hospital once again.  He will have a repeat MRI beforehand to see if things have changed at all since the first one and give them a good picture before going in.  His hearing test that was scheduled for tomorrow is being postponed until after this procedure because he would have to be tested again anyways. 

While this news is very frustrating we want to make sure we have a definitive diagnosis and we aren’t subjecting Seth to any unnecessary treatment since the one for ATRT is very aggressive.

Now we wait to hear the dates for the next steps …

Merry Christmas!!

Today we tried to have a normal Christmas.  Seth woke up earlier than Sadie so we enjoyed a little time together before opening gifts.

 

Sadie then woke up and we got to open presents as a family.  She was more than happy to open up all her presents as well as her baby brothers. 

 

 

We hope everyone had a great Christmas!

Biopsy Day

Monday we headed into Children’s for our pre op appointment.  We thought we were meeting with the surgeon to discuss the procedure but that was not the case.  Seth had all his vitals taken, we met with anesthesia and signed consent and then signed off on some administrative paper work.  Afterwards we headed over to the clinic to meet the oncologist we would be seeing regularly on our clinical visits.  Again I was thankful we were in the clinic because the night before when I was going to give Seth his sponge bath I noticed the dressing for his central line had come completely up on one side!!! I called for Steve and taped it down with tegaderm strips and needless to say poor Seth didn’t get his bath.  We had his dressing changed again on this visit to make sure it would stay down.

Tuesday we headed into Children’s in order to meet with the neuro surgeon before Seth’s procedure later that afternoon.  We had heard she had a tough personality and was very direct in her approach but she was also the best at what she does.  I was happy she took the time to answer all of our questions and was very caring and thorough in her responses. She explained she would just be taking enough of the tumor for testing to get a definitive diagnosis and also to clear the path so spinal fluid could flow easily like it should.

Hanging in the waiting room before meeting with the surgeon.

Having some fun before surgery.

 

 We killed some time before his surgery which was scheduled at 2pm with a 12:30pm check in time by spending some time in the family center, doing laps around the first floor, and grabbing a little something to eat.  We headed up to check in and were taken back to the holding area shortly after.  The surgeon, anesthesia, and OR nurses all came out to say hello and answer any last minute questions before taking Seth back for his surgery, it was booked for 3 hours.  During his surgery we were told that on the first floor they were providing gifts and stocking stuffers to all patients who were receiving surgery or who were in patients that day.  It was a great distraction while waiting for Seth’s surgery to be completed.  Board games, stocking stuffers, and stuffed animals were all free and you could take as many as you wanted and everyone received 15 tickets to get other gifts such as baby dolls, legos, mega blocks, and so many other great things for their children for Christmas.  They even provided a wrapping area!!  We got some really great things for both kids and truly appreciate the distraction and generosity that we’ve seen at the hospital during the holiday season and what has been a whirlwind for us.

Seth’s surgery took a little longer than expected but after about 4 hours the surgeon came out and told us Seth did great and was awake and screaming his head off.  She explained that it took a little longer than expected because they needed to do a CT scan to ensure they were entering with the proper angle for the sample because it was done endoscopically.  She said there were no issues and no excessive bleeding or need for the drain she had mentioned was a possibility earlier in the day.  She said we would be able to see him soon.

Seth was originally scheduled to go to the ICU after his procedure but the liaison nurse came to get us and took us back to the recovery room which meant he was doing so well he did not need to go to the ICU and would be going to a regular room.  We got to see Seth and he looked really good with just a small bandage on his head but was very unsettled and upset.  We were in recovery for quite some time before our room was ready.  We headed up about 8 o’clock, he was still really unsettled and upset and we were doing everything we could to try to calm him down.  The nurse gave him Tylenol and another medicine for pain.  Steve stayed with us until about 11.  He was still pretty fussy but I managed to hoist myself up into that crib once again and cuddled with him, sang songs, and rubbed his head until he finally fell asleep.  Shortly after I had climbed out of the crib and fallen asleep on the pull out chair they provide one of his machines started beeping nonstop and of course woke him up.  The nurse came in and plugged whatever it was back in and I hoisted myself back up there and settled him down again.  Thankfully he did sleep until about 3am when he woke for a feeding and went to sleep again a little while later until about 6am.  I was so happy that he got some rest because again I was nervous about the lack of a swing and also the every 2 hour vital checks he required.  That morning the surgeon came to see us and talked to me about caring for his incision and that Seth was looking really great and could possibly go home that day if we were comfortable with that and if not the next day.  He was still pretty unsettled so I didn’t know what I wanted to do at that point.  Seth needed to have a mini MRI to check the vents in his brain after his surgery.  Fortunately this was a 1 minute test that didn’t require him being sedated. 

Sleepy but looking great less than 24 hours after the biopsy.

 

Steve came back to the hospital a little before lunch time and got Seth to sleep in the carriage with non-stop pushing.  He slept a good part of the day and we finally made the decision to come home.  The oncology team came to see us before we were discharged and said they were pushing to get the results sooner but with the holidays it would most likely be 1 to 2 weeks before we would have any news.  Of course when we got discharged it was once again rush hour (funny how that always happens!) and it took us a while to get home.  When we got off the exit Seth got sick in the car seat which I knew was a side effect of anesthesia but he hadn’t been sick in the hospital so I was a little concerned.   When we got home I took him to his room to change and noticed he felt warm and took his temperature he had a little bit of a fever.  We called the doctor to make sure everything was ok and that we didn’t need to go back. Fortunately everything was fine.  We’re glad to have this part of the journey behind us and we’re looking forward to enjoying our first Christmas as a family of four.

Additional Testing

Today we headed into Children’s to have the testing done for his kidneys and heart and meet with the genetics specialist at the Jimmy Clinic.  We started with the kidney testing.  He had to have some medicine put into his system to start and then 3 blood draws after to see how his kidneys processed the medicine.  While we were in between blood draws we had an ultrasound of his heart done.  It was a little difficult because of where the central line was placed but they got the pictures they needed.  They did get the ultrasound jelly all over his freshly changed central line dressing so I was thankful we were headed to the Jimmy Clinic so that could be changed!!  We headed back over for the scheduled blood draws and the nurse said it was hard getting the blood out of his line.  After this news and seeing his line fill up I decided it was best to leave the room and let Steve handle this!!!

The Jimmy Clinic was all decked out for Christmas with a tree including presents underneath with a sign saying please take one for each child in your family.  They also had pizza and desserts to enjoy.  This visit was very long meeting with the genetics team and taking down a detailed medical history of Seth as well as me and Steve.  Once again Seth won over all the doctors and nurses! 

Before leaving we made sure his dressing was changed and we were on our way just in time for rush hour traffic!

During the week we had received word that the spinal tap and bone marrow sample came back without any abnormal cells.  While this is great news it meant Seth will need to have a brain biopsy. That was schedule for December 27^th because the neuro surgeon the clinic usually works with was out of the country.  However, while Seth’s dressing was being changed I received a call from the scheduler saying the surgeon was back in the country and had an opening the following Tuesday.  While we were looking forward to getting through Christmas before having this surgery it will get us a definitive diagnosis that much fast so we were off to pre op and surgery after the weekend.

Central Line Placement

Today Seth was scheduled for the placement of his central line, spinal tap, and bone marrow sample.  We arrived early once again and began the check in process.  The doctors from anesthesia and the doctor who would be placing the central line came out to talk to us and answer any questions we had.  Seth was taken back and he went away happily.  After about an hour the doctor who placed the central line came out to tell us Seth did great and they had no problems placing the central line and oncology was just starting the spinal tap and bone marrow procedure so it would be a little longer.  A little later the liaison nurse came to get us and bring us back to recovery to see Seth.  He woke up easily again but was a little more irritated this time around.  He had a bottle and while we were waiting to be discharged they realized that home care for Seth’s central line had not been set up.  We didn’t have the necessary supplies or training to care for the central line so Seth and I got to have our first overnight at Children’s.  I was nervous about this because Seth sleeps in his swing every night and I knew it was going to be a rough night without it.  He did fairly well doing a few 2 hours stretches in the crib after I climbed in and cuddled with him until he fell asleep.  When the nurses told me many parents do it I was like there’s no way, but when you’re sleep deprived and your child is upset you hoist yourself up there and snuggle!!!  The overnight nurse came in around 2am and said just let me know if you want us to take him for a little while so you can get some rest.  Having been up since 4am I gladly accepted.  All the nurses, doctors, and hospital staff we’ve met have loved Seth and he flirts with all the ladies.

 

The next morning the home nurse care was set up, supplies were being sent to the house, I had a lesson on flushing his line and got to practice before leaving the hospital.  The oncology doctors from the Jimmy Clinic stopped by to see how we were doing and said he looks great.  They mentioned someone would be reaching out to set up testing for his kidneys, heart and hearing which needed to be completed before chemo could start. 

I managed to get us home safely on my first time driving home alone from Children’s even with a disgruntled driver upsetting me on the way home!  The supplies for his central line arrived home shortly after us and the nurse came to show us all how to flush the line and keep everything sterile.  She would be back weekly to change the dressing and clean the area.

MRI

We arrived at the hospital early for Seth’s scheduled MRI.  We went back to get prepped with the placement of an IV (I left the room for Steve to handle this) since he needed to be completely still during the test.  He did great during the test and with the anesthesia.   He slept for a while in the recovery room before waking up but he woke easily and wasn’t really upset and irritable like we had experienced with Sadie’s last eye surgery.  Dr. Kieran was hoping to meet us after the MRI in the recovery room but we received a call he wasn’t able to make it and would see us over at the clinic later that afternoon.  Seth had a bottle in recovery before we left to get some lunch and head over to the clinic.  His vitals were taken and we went back to an exam room. The fellow who works with Dr. Kieran came in with another doctor and told us that they did in fact find 3 tumors in his brain.  Dr. Kieran and a psychologist came into the room to discuss with us further.  He explained again that they had found what looks like 3 spots in the brain located in the ventricular system.  They believe from past research and the 4 cases they had mentioned in a previous visit that it is ATRT.   We asked all sorts of questions, is this curable, could Sadie be effected, how soon would treatment start, can he eat regularly, how will this affect him, etc?  Dr. Kieran took the time to answer all our questions and recommended that we start to move through the process of getting Seth prepared for treatment beginning with the placement of a central line, spinal tap, and bone marrow sample extraction.  Our hope is that the spinal tap will provide the information they need to make a definitive diagnosis.  If it does not then Seth will need to have a brain biopsy where a piece of the tumor will be removed for testing.

Dr. Kieran also talked to our pediatrician to give her and update and said that she deserves a lot of credit for having these markings looked into further.

Smiling after his MRI

 

Backstory

Seth was born full term (a little over-due!) but with three birth marks.  One on his back, left foot, and left hip.  We’d been following them making sure they didn’t change, get any bigger and always had the pediatrician take an extra close look at our regular visits.  I was more concerned about the one on his hip because it had what are best described as “skin tags” on it and was worried these would bother him as he got older because they were right where his pants would sit. 

At Seth’s two month check-up the pediatrician mentioned the texture of the one on his hip had changed a little bit so let’s have a dermatologist take a look just to be safe.  I made an appointment at the local dermatologist she referred us to.  We went for our appointment and pictures were taken to send out to her extended network to which no one had a good idea of what it might be so it was decided a biopsy would be done.  We had one of the “skin tags” removed and a little of the tissue under that taken for analysis.  Again it couldn’t be determined what it was so at that point I opted for a second opinion and got a referral to Boston Children’s Hospital Dermatology.

On October 26, 2016 we had our first visit at Children’s dermatology.  Seth was quite a hit with all the doctors coming in to take a look at his birth marks because it was something they had never really seen before.  They offered to use the sample received from the original dermatologist to analyze or take some more of the skin tags off for pathology to use.  Due to my concern that they would bother him later in life we opted to have more removed, better to do it while he’s young and won’t remember.  He wasn’t too happy about the whole thing but did great and was a trooper through it all.

A few weeks later I got a call from Dr. Liang saying pathology couldn’t determine it was nothing from the sample they had taken so they wanted us to come back for a deeper tissue sample called a “punch” biopsy. 

On November 9, 2016 we returned to Children’s dermatology for Seth to have the deeper tissue sample taken.  Dr. Liang mentioned pathology takes each case very seriously because they know if they say it’s nothing the doctors may do nothing so they wanted to be totally sure.  Seth once again was a trooper for this procedure, at one point he just gave in and sat there quietly until it was over.

On November 15, 2016 I received a call while at work from the Dr. Liang stating she had good news and bad news.  She heard back from pathology and they did not find any cancerous cells in the sample itself however the type of cells they found in Seth’s biopsy have sometimes been associated with underlying tumors.  For that reason, he would need to have a full body scan to make sure everything was ok.  She said she didn’t want me to be caught off guard but Dana Farber would be the ones to reach out to schedule this testing.  I managed to hold it together on the phone because I think I was just in complete, total and utter shock thinking there is no way my perfect, happy, smiley baby boy could possibly have cancer!!  But when I got back to my desk the realization that it may be possible hit and I cried like a baby.  I missed a meeting and my boss sent me home for the day.

Later that day we received the call from Dana Farber scheduling his appointment for December 2^nd.  December 2^nd?!?!?!? that was two weeks away and this is cancer we are possibly talking about why do we have to wait so long?  Steve had a conversation with Dr. Liang and she said because they didn’t find any cancerous cells in the sample it was not an emergency to be seen but she would ask if it could be moved up. 

On December 2, 2016 I went to work in the morning before Seth’s scheduled visit at Dana Farber’s Jimmy Clinic.  Early in the day I received a call from a nurse saying they wanted to do an ultrasound of Seth’s belly and head.  It was scheduled at Children’s Hospital an hour before our scheduled appointment at the clinic.  This made me a little nervous but I figured this must be the body scan they were referring to previously.  We waited for what seemed like forever at the ultrasound area because they were so busy but finally got called back.  Seth was flirting with the tech as he does with all the ladies.  She did his belly first so that he could have a bottle when she was done.  She said everything looked good but was just going to review with the pathologist before moving on to his head.  She came back and Seth enjoyed a bottle while she did the scan of his head.  She did not say everything looked good this time which I mentioned to Steve and that made me nervous.  She came back and said they got what they needed and we could head over to the Jimmy Clinic.  She wished us luck and got directions for us from the receptionist.

We arrived at the Jimmy Clinic where Seth got his ID band and vitals were taken.  The nurse gave us directions to exam room G (I will never forget that) rather than taking us there which seemed strange to me.  When we arrived at the room there were about 6 people waiting for us.  I honestly thought this can’t be the room, we must be interrupting a meeting or something.  But they welcomed us to the room and we sat down for what would be a conversation we never in a million years thought we would ever be having.  Dr. Greer welcomed us and we had a little small talk but got right into things.  He took a little family history and then explained that the cells they found in Seth’s birth mark are sometimes associated with tumors in the belly and brain which is why they did the ultrasound of those two areas.  The belly came back clean but they did find a spot in his brain.  We fell apart.  Again how could this be happening?  He told us that there are 4 documented cases ever that show the link between these skin markings and a rhabdoid tumor.  He explained that when the tumor is in the brain it is called ATRT and that is what they believe Seth has.  Seth is the first case they have ever seen where the skin markings led to the tumor.  Usually the child shows symptoms of the tumor which is then tied back to the markings on the skin.  We went through a whole slew of questions about why, how, what does this mean going forward, etc.  They didn’t want to elaborate too much because they didn’t know 100% this is what was going on but were also fairly certain.  Dr. Kieran from neuro oncology joined us later and introduced himself saying he had been setting up appointments for Seth to have an MRI early next week.  He mentioned while the ultrasound showed there was something there it is not the best way to get a good picture of what is going on and an MRI would be necessary. 

And this is where our new journey with Seth, Sadie and as a family really began.  The reality that our perfect little baby boy has what is believed to be cancer…