Down Syndrome and Retinoblastoma: a Rare Combination

After having one miscarriage and one ectopic pregnancy it was time to have the talk.  My husband and I sat down In January 2015 and decided no more children. It had been a hard painful road but we were a happy family of 3. We let pain, fear and “what ifs” take over. The very next day I saw one pregnancy test in the bathroom.

 

Something was telling me to take it.

My mind was like “just do it so you can throw it away and close this part of your life.”  To my surprise it was positive.  I had such a mix of happy and scared emotions. We decided this time we would wait to tell ANYONE. Having to tell family and friends about a loss is so painful. With our son’s 3rd birthday coming we thought it would be so great if we announced at his party AND knew the gender! How fun would that be?!?! So I signed up for the maternit21 test. After all its just a simple blood test.

 

Waiting for those results seemed like a lifetime. We were 2 days shy of 12 weeks so we told the whole family and told them we would know the gender soon. Little did we know when that call came it would not be what we expected.  “Positive for T21,” I heard the Dr. say. I had no idea what that meant so she told me he would likely have down syndrome.  There was a high percentage chance of miscarriage, a high risk for stillborn, and of course the risk of many health issues.  I sobbed right there on on the phone. I love my Dr. and she was such a positive support during all of this.

 

My Dr. referred me to a high risk specialist whom I named Dr. Doom and Gloom. We were pressured to have an amino, told we wouldn’t be able to afford our child, told all the things he would never do, and basically made to believe this little person inside me wasn’t worth it.  She literally told us we should just abort and start over. I’m so very thankful we didn’t give in to this Dr.’s bullying.

 

We moved forward and throughout my pregnancy, everything looked great…until we were coming to the end. At 34 weeks I was measuring 43 weeks pregnant.  Ryder’s fluid was very high, but I also had high fluid with his brother. We were sent to talk to the head Dr. at the NICU. He informed us that there are three reasons they would see high fluid like this. Two would be seen in an ultrasound but one would not.  It was safe to assume since nothing was seen this was the one. We were told he would need immediate surgery when he was born or he wouldn’t be able to eat and that pretty much all children born with down syndrome spend a minimum of 3 days in the NICU. It was so much to take in. We went home and prepared for our new life with a very sick child.

 

At my 36 week check up we decided it was time to induce. She felt inducing at 37 weeks was safer because if my water broke on its own and the cord came first he would be in real danger. The date was set. September 3rd 2015 at exactly 37 weeks. The day before induction I had to see my Dr. It was so weird.  At least 17 times I wanted to tell her “don’t let me die”. It was the craziest feeling. I couldn’t shake it but I never said a word because, well, frankly I didn’t want to sound crazy.

 

We got to the hospital around 2 am. Everything was going as planned. Once I was dilated we started to push. I’ve never felt so much pain in my life. After the 3rd push I was seriously ready to tell her I can’t do it again. Before I could say anything she said “He’s just not tolerating this and we have to go.” I watched my husband dress in scrubs as fast as he could and I saw the tears in my sister’s eyes. They wheeled me away and people were coming from everywhere. It was at this moment when I thought, “oh my gosh it isn’t me. It’s him! He is the one that isn’t going to make it!” I’ve never prayed so hard. I told God I was sorry I ever doubted his plan. I begged God for life.  Here I had been so sad and scared the whole time but this was a wake up call. “Lord please don’t take him from us!”

 

The c-section was actually super fast. They had him out quick and my husband was dancing around the room saying “Look, Honey! Look how cute he is! He’s here!” As planned my husband left with Ryder and the NICU staff. I should have been out in 20 minutes but I wasn’t.  I laid on the table for what seemed like forever awake – serious anxiety kicking in. After over an hour the Dr. requested blood. It was at that time she informed me there was a problem and we would talk about it soon. I could see the worry on her face. About 30 minutes later they were sending me to recovery. At that point I fell asleep. I woke up with my family there and they were all just so happy to see me.

 

Right away I asked how Ryder was.

My sister told me he was just fine and eating like a champ. I was so confused and highly drugged. I said “does he have down syndrome?” She said “Yes and he is so cute! They said he doesn’t need any NICU time! He is doing fine!” After that I was filled in with the fact that my uterus had ruptured. I had been on that operating table for about 2 hours and it took a lot to put me back together. Ryder was released from the hospital 2 days later but I was not.  I got out of bed and started to get dressed. A different Dr. came in because my Dr. was off. I explained that I needed to go home with him, I’m so drugged up here I can’t stay awake, and my family will be there to help. Ryder was ok but I was not and I was unable to care for him in my room. Home would be best for both of us. She said ok.

 

One would think this is where the story ends but it isn’t.

 

We went home and he was just the best baby.  Sleeping through the night by 2 weeks old and totally content as long as he was fed. He loved to be held and I loved looking at his beautiful face and his amazing blue eyes. I’ve always been labeled by my husband as “crazy picture mom.” So yes, lots of photos were happening. As Ryder hit about 2 1/2 to 3 months old he was opening his eyes more and more for longer periods. The more I took photos the more I saw a glow in his left eye. I started to turn the flash off because it was always there. I remembered that I had seen a story about a little girl whose eye was glowing. I never read that story but I made a mental note that it wasn’t normal.

 

For Christmas my husband got me a Nikon camera. I couldn’t wait to use it but was shocked to see the glow was still there. It wasn’t just my bad camera phone. I decided I needed to mention it at his 4 month appointment.  At the end of his appointment I did just that. After talking about how great he is doing, lots of laughs and smiles, all of a sudden everything changed. She looked in his eye and things became serious on her face. As she started to leave the room I asked if he needed any shots. She turned around and said “I’m trying to get him into a specialist today. I’ll be right back.” The word “today” was just lingering. Like what could be so important? I was certain it was only cataracts or something like that. It left a pit in my stomach.  She was able to get us into a Dr. at 8 am the next day. I went home and never said a word to my husband about how worried I was. I didn’t want to be overreacting so I kept telling myself it’s nothing.

 

The next morning I loaded both boys up and headed to the Dr. really early. On the way my husband called. I decided to tell him how worried I was and that one of my sisters said it can be a sign of cancer. We talked about it and I shrugged it off. I told him I’m sure that isn’t what it is and I’m just emotional. He said ok and asked me to call him after the appointment.  We went in and this Dr. looked in his eye. He looked at me and said, “it’s a tumor.” I couldn’t believe my ears, and my eyes filled with tears as I asked, “is it cancer?” He told me he didn’t know but he was sending us to another specialist today. Again with the today! I called my husband from the parking lot crying. I told him he needed to meet me at this other Dr. at 3pm.

 

We sat down with this Dr. who started throwing all kinds of words and terms at us like retinoblastoma.I stopped her and said “is it cancer?” I’ll never forget the look on her face. In that moment she realized no one had told us and she replied “yes.” That’s when I realized the other Dr. also knew that. He just made a choice not to tell me while I was there alone with my 3 year old and my 4 month old. I’m really grateful for that.

 

The next day we were admitted to Phoenix Children’s Hospital where they checked his eyes and his brain for tumors. His brain and right eye were clear but his left eye had a C, borderline D, tumor. RB has several forms so it requires a blood test to tell you of it is just one eye or if it will inevitably show up in the other. That test takes 8 weeks but we didn’t have that kind of time to make a choice. We needed to decide whether to treat him with chemo or remove his eye. At first we planned for removal until another Dr.  gave us the information above. She explained that this eye could be treatable but if we remove it and it appears in his right eye, well, we would have made him blind. Here’s the kicker – you see not all chemos  are the same. So this concoction  puts children at a high risk for leukemia. My immediate reply was “Ryder is already at a high risk because he has down syndrome. Will this make it more likely?” She said she didn’t know.

 

In the 10+ years she had been doing this she had never treated a child with RB and DS. So she reached out to several other hospitals including St. Jude’s. None of them had treated a child with both but she felt we should just forget about the DS and move forward like it wasn’t an issue. I couldn’t stomach that. I spent the weekend searching for better options and I found one in New York. We live in Arizona. This was financially out of our means but we prayed this would save his life and his eye without putting him at risk for other cancers. 72 hours later Ryder and I jumped on a plane.

We met with the team of specialist that told us all about IAC treatment, explained how it is different and doesn’t put him at a risk for leukemia and that he would need a minimum of 3 chemo treatments.  Ryder and I made this trip every 4 weeks for 8 months.  Remarkably, Ryder only needed two rounds of chemo! The rest was laser treatment. The Dr said he can’t say that has never happened before, but he will say it’s a rare miracle.

 

Ryder is now 21 months old and 1 year cancer free. He is put under at PCH every 6 weeks to make sure he hasn’t had any reoccurring tumors in his eyes and every 6 months to make sure there is no cancer in his brain. On his last MRI they believe they saw a cyst growing in his brain.  Again, 100% unrelated to down syndrome, but we will now follow up with another specialist to make sure it is not growing and it is nothing to worry about.

 

It kills me to look back. I think to myself about all the tears I cried because he was going to have down syndrome. Now, I cry for a different reason. For all the things going on that he would have had regardless of his extra chromosome. I seriously cry and think why can’t he just have down syndrome.  I smile and think at least he has down syndrome too because it’s truly the one thing that makes me smile through all of this.

Bringing a life into this world is exciting and scary. Knowing there is an issue is terrifying.  I know this first hand, but no Dr. knows what your child’s life will be like.  I can tell you cancer sure makes down syndrome look like a walk in the park.  Ryder’s extra chromosome has made my heart and my mind grow and It also helped him beat cancer.  It has made me focus on the little things which make me enjoy life a lot more. Down Syndrome has changed my life for the better. Cancer has not.  Cancer doesn’t discriminate. Cancer finds children and it’s a hard fight. I’ll never be happy that Ryder had cancer but I’ll always find the plus side. Sometimes we go out and I get that look. You know the “poor her” or “poor him” or just the stare like he is different.  I always smile back because I want them to see how happy I am. My little man fought a big battle and he won! That battle isn’t down syndrome and frankly, I love him just the way he is. He brings joy to everyone that knows him, and those people are missing out on a little piece of perfection.

 

Andrea is a stay at home mama to two boys who also happens to have turned her obsession with children’s shoes into a little business (check it out here).  She also loves taking her boys out to play and capturing our fun through the camera. You can see Ryder’s journey on instagram @downrightwild.