Skip to main content

Chromosome 13 Deletion

I have lost a lot of sleep over the last 6 months with everything that has been going on with Violet, but the last couple of nights I can barely sleep at all.

First, I want to focus on the great blessings that we have right now. Violet is done with chemotherapy and her labs yesterday showed that all of her counts have almost fully recovered. This means that active treatment is completely over. There are no more weekly port accesses and blood tests! And, chemotherapy was very successful. Violet's ophthalmologist said that it was one of the best responses to chemotherapy that he has ever seen. That is so much to be grateful for.

Violet's eye was saved (though we won't know exactly what kind of vision she will have for some time) and that in itself is amazing. 20 years ago, medicine wasn't anywhere close to where it is today for Retinoblastoma and her eye would have needed to be removed immediately. Thankfully, that was avoided. Another wonderful thing to report is Violet's EUA (exam under anesthesia) this week showed no recurrence!

Violet also had another hearing test this week and it was, again, a perfect result! If Violet was going to have major hearing loss from treatment the chances are she would have shown it by now. But, in some cases it has shown up within the years after active treatment stops so they will continue to monitor her. We will be very happy when we are completely out of the woods with that.

So, on the heels of all of this wonderful news that we are getting, the results of Violet's genetic testing has come in. Violet's oncologist actually happened to see us in the hallway of the hospital after we had just left from her recovering from anesthesia and he asked to talk to us. Right then, I knew that this was not going to be the news we were hoping for because we had no appointment with him that day, and he was wanting to sit down with us.

I am going to explain this all to the best of my ability, but I know I will continue to learn much more along the way. Violet tested positive for the RB1 (Retinoblastoma) gene mutation. This gene is located in chromosome 13. You can read detailed information about this HERE if you would like to know more than I am going to explain. The RB1 gene is responsible for making a protein in the body that is a tumor suppressor (this protects cells from growing and dividing at an uncontrolled rate). The tumors in Violet's eyes are caused because her body is lacking this protein because of this mutation. This leaves Violet more vulnerable to other malignant tumors (elsewhere in her body) in her life. Also, when Violet wants to have children of her own, she has a 50% chance of passing this on to her babies.

This news alone is scary and heartbreaking enough to find out about your little child, but unfortunately there is more. We didn't even know that there was a possibility of more than that.

Violet has an even more rare deletion in chromosome 13. This means that there is actually a space missing. The list of things that could happen because of this is long and very difficult for us to digest. I will list some of the things, but these are just what Violet's oncologist has told me and what Josh has told me from what he has read. I can't bring myself to look online about this yet because it is too overwhelming and so I don't have a link for you. But, if you would like to know more you can google chromosome 13 deletion and you will find a lot.

Many of the children that have this deletion are born with major deformities and Violet defeated those odds so I don't even need to list all of those. Thank you God for my perfectly formed baby. Truly a miracle.

These are some of the things that can occur from a chromosome 13 deletion:

Autism
Retardation
Growth problems
Development delay
Low muscle tone
Kidney failure
Seizures
Blood clotting
Sensory processing disorder

... etc, etc, on and on.

At this point, Violet shows none of these issues at all! And, many people and staff at Seattle Children's Hospital are constantly remarking on how social, observant, cooperative and smart she is. We can't even believe this is her diagnosis.

The plan for Violet medically from here is to see her oncologist every 4 weeks to monitor her condition and every 8 weeks for EUAs (if recurrence is found that will change to every 4 weeks again). She can also have her port-o-cath removed after her next EUA if there is no recurrence. We cannot wait to have that removed and the risk of infection that goes along with it!

Josh and I had our cry together over this latest news last night. It has just been so much. We love our little girl so much. We fully cherish her and thank God for her every single day! Remaining faithful, strong and positive is the only choice for our little family and we will get through all of this together. We know the importance of living our days to the fullest, surrounding ourselves with those who truly love and support us and being grateful for every blessing no matter how small.

Now that we can safely leave the house together we have so many plans to carry out!


Please keep our sweet Violet in your prayers. We have overcome so much by the grace of Jesus and we know that we can continue to see amazing things from this little girl!

Comments

  1. I've been following your story since you started this blog. My daughter is the same age and was born with multiple special needs. I know you're scared. But remember... She's a fighter! I'm offering up a prayer for your little family tonight.

    ReplyDelete
  2. God has great plans for Violet and she is blessed to be born to You and Josh. I keep you guys in my prayers. It sounds like the road will always be uncertain so lean on the Lords grace and know how very much he loves you all.

    ReplyDelete
  3. No wonder you can't sleep. This is heartbreaking news. I can't tell you how sorry I am. All I can say is that since she wasn't born with any of the defects described, I hope and pray that she won't develop any other symptoms than the Retinoblastoma. I'll be keeping you and you're little warrior-princess in my thoughts. Stay strong.

    ReplyDelete
  4. Thank you all so much for your prayers and kind words. It means so much to us.

    ReplyDelete
  5. It's amazing with all this "against" her that little Violet is such an amazing child and doing so well. I was feeling
    "grumpy" today and now I've had a perspective adjustment and realize I have nothing to whine about. I know the Lord has good plans for sweet little Violet. And He gave her the perfect parents! Hugs to you all. Prayers, of course ~
    Kathy

    ReplyDelete

Post a Comment

Popular posts from this blog

Please Join Us In Prayer - CT Scan Tomorrow

I just received the call from the hospital with Violet's appointment time. We will be checking in at 9:30 AM at Seattle Children's Hospital. They let me know the procedure will take approximately 1.5 hours and then recovery from anesthesia will be a few hours. These will be the tests that tell us everything about the stage of cancer. We would love for the tumor to just be gone! If that is not the case, we want to hear that it has not spread anywhere else at all. We want to hear that Violet's life will be saved, her eye will be saved and her sight will be restored. There is a beautiful prayer that went out for Violet by email. We do not even know the wonderful man who wrote it but I thank God for him. The prayer was forwarded to me and I want to share it below: As you have said a personal prayer for the benefit of Violet, lets also come to collective agreement in Prayer for her comfort, healing and above all God's Glory ... Father God, Maker of all things good, c...

Violet's Port-a-cath Surgery

We just made it home from Seattle Children's Hospital. Violet's surgery was successful and lasted almost 2 hours. Then, she was in recovery for another 2.5 hours. The first thing we were told when the anesthesiologist and doctor came in was that it took a little longer than expected because they had a hard time finding a vein for the IV. Our poor little baby had her hands, wrists and feet poked and when they could not get any of those to work they ended up shaving some of her hair and getting the line in on her scalp by her temple. My eyes quickly welled up with tears with the news but I then took a deep breath and tried to focus on the fact that she was awake and well ... something to be very grateful for. The doctor let us know that the port was inserted by 2 incisions, one in the neck and one in the chest on her right side. There are dissolvable stitches in place on the skin and underneath the skin as well. The port is stitched into the muscle of her chest wall and the li...

Violet's MRI

The day after Violet's exam under anesthesia she was scheduled to begin her next round of chemotherapy. My mom and I went to her scheduled appointment which has always gone like this: labs, appointment with her oncologist and then the chemotherapy infusion. On this day, we were told during her appointment that her ANC had not come up from the previous week so unfortunately, Violet's chemotherapy had to be postponed. Her ANC was in the 400 range and it needs to be over 700 to begin chemotherapy. I was disappointed that there would be a delay in her treatment, but grateful that Violet could get a couple days of downtime before her next appointment. And, this meant that we could go home now and she would get more playtime with grandma! We had a visit over the weekend with my step-mom and my sister from California and it was much needed family time! It was wonderful to watch Violet enjoying more playtime, love and hugs. We were definitely showered with many blessings from them ...