To Tube or Not To Tube?
A CS family makes their decision
Important Medical Disclaimer: Riaan Research Initiative does not offer medical advice nor endorse any specific medical intervention for children with Cockayne syndrome. This post is intended for informational purposes only, to share the personal perspective of one family’s experience with a feeding tube, which may or may not be relevant, similar, or applicable to other children. It does not constitute nor substitute professional medical advice. Any and all medical decisions, diagnoses, and treatments related to your child, including surgical interventions, should be made in consultation with a licensed medical professional or healthcare provider.
Guest Post By Brianna Marquez
(July 2, 2024) - Olive is my 3 ½, nearly 4-year-old little girl who has Cockayne syndrome (“CS”) type 1. Her weight was stagnant at 22 pounds for almost two years. She plateaued at around 18 months and no matter what we did, including giving her smaller, more frequent calorie-rich meals and protein shakes, she did not gain any weight.
We were frustrated, and worried.
A number of children with CS have issues with aspiration, which is why they need another form of feeding to avoid choking. For many of these parents, the decision is already made for them: they often have no choice but to get a feeding tube. While Olive did not aspirate, she had not gained weight in years and was frail while walking (she would tip over easily), which is what led my husband Christian and I to seek out a gastroenterologist (“GI”). We had recently moved to Minnesota, and they have an amazing children's hospital in Minneapolis.
We met with a GI surgeon in Minneapolis, went over the feeding tube surgery ins and outs, what to expect, possible risks, and outcomes. I was worried, if I am being honest. My daughter has had surgery in the past (cataract removal), and the process is always stressful. But her gaining weight felt like it could be a likely outcome of the procedure, which helped stifle my fear.
We drove in early on May 17, 2024, the day of the surgery. After we checked in, we were escorted to the pre-surgical exam. Everyone was so kind and made sure we were all comfortable. Someone came in with the gas mask they use to sedate children, and even had Olive play with it so that she did not associate it with fear. She was eventually led into the back with her dad so that he could be there with her as she fell asleep, and we waited.
Holding our breaths.
Normally the surgery is fairly quick, around 30 minutes, as it is not too invasive. The surgeon enters via the belly button and makes an incision for the tube through a hole called the stoma. Then they inflate a little balloon inside the body, filling it with water, so that it cannot be pulled out easily. The actual feeding tube they used for Olive is called a Mic-Key button, a low profile gastrostomy tube, which is placed at skin level. The external Mic-Key button and the internal balloon work together to hold the entire tube in place.
Fortunately, Olive’s g-tube procedure went well. However, Olive was sedated for around 3 ½ hours because we had other procedures we wanted done while she was under, including an ABR and an MRI. Children with CS do not always handle sedation well so we wanted to make the most out of the time she was under.
When Olive finally awoke, she was groggy and just wanted to cuddle. Eventually, we were able to go into her room, bringing her blankets from home, pillows, and toys she loved (new ones she has never played with to keep her distracted), and of course her beloved iPad. She was uncomfortable, we could tell, but she did fine with just taking Motrin and Tylenol. She did not need anything stronger. My concern was mostly infection, and what it could do to her, so we diligently listened to the nurses and learned everything that we needed to know.
I was petrified to plug the little tube into her g-tube connection for her feeds. I wound up asking the nurse for help a few times and watched them with laser focus. I thought I was hurting Olive, but she is such a resilient, strong girl. We spent the night at the hospital making sure she was handling her feeds well and left the next afternoon to finally go home.
We settled in at home and started doing Olive’s feeds on our own. The process is a little time consuming, including the prep, the feed itself, and cleaning up afterwards. At first, learning how to connect the tube was challenging but the rest of the process is very simple, and becomes easier over time, similar to learning how to tie a shoe. Sometimes there is some secretion that can stick to her skin and cause a little discomfort but it never makes her cry.
Prior to the tube, Olive’s lab work often revealed that she was dehydrated but she now drinks at least 40 milliliters of water before and after every feed. She takes four feeds a day, consuming about 125 mL of food per feed. Her feeds typically last about an hour. An hour after her g-tube feed, I give her solids to consume by mouth, including fruit yogurt, and other snack items. She is learning to eat more foods by mouth again.
That first night at home following her surgery, after all four of her feeds and some snacking, we put her to bed. She slept the entire night, and that never happens. She normally wakes around 2:00 – 3:00 am in the morning to come to bed with us. We initially thought that she slept that night because she was tired from the surgery but she has been sleeping through the night since then, for the most part.
We realized that she was likely waking up every night prior to the tube insertion because she was hungry. However, since she is nonverbal (she does know the sign for eat and drink), she could not easily let us know and would just fall back asleep next to us. We felt awful, truly terrible, but how could we know? While she still wakes up post surgery, it is much less frequent, and we think she does it just to cuddle with us.
Since she has had the feeding tube, Olive’s cheeks have started to fill in and become rosier. That was one of the first indications to us that she was also gaining weight. She is so much happier, truly, like a switch has been turned on. Prior to the tube, she tended to be more cranky throughout the day.
One night, while she was playing with her dad, he yelled, “Babe, she’s trying to crawl!” as I was reading a book in the other room. I yelled back, “That’s awesome!” as she frequently tries to get on all fours to crawl but would always fall back down on her butt. Her mode of transportation as a baby was to scoot on her butt since she was unable to master crawling. But he yelled at me again to run over there, and as I sprinted in, I witnessed my daughter crawl, across the entire room, for the first time in her life. I immediately started bawling, and we spent the next 20 minutes trying to get her to do it again. We thought she seemed stronger because of her improved nutrition, and that was why she was able to finally pick herself up and crawl.
We were so immensely proud.
At Olive’s post-operation exam to ensure that her site was healing correctly and that there was no infection, they weighed her. I had not weighed her since her surgery because I wanted to be surprised. Olive went from 22 pounds on May 17th to nearly 25 pounds at her appointment a month later. She gained three whole pounds, a miracle for a child with CS! It was unbelievable, all these years of trying to have her gain weight, all I ever wanted to do was hit 25 pounds, and we finally did it. Now I cannot wait until we hit 30 pounds! I can finally switch out her 2T toddler clothes and donate them. They’re too tight. I never believed I would say that either.
Honestly, I wish we would have had the surgery sooner, but we tried every other option before considering the g-tube. Even with the anxiety of the actual surgery, or having to be more careful with her when we play, I would do it all over again, and even sooner. Observing how happy she is, and seeing those chunky rolls coming back to her body brings me so much joy. I used to hate changing her, and being able to see her rib cage and her spine poking out because she was so tiny and used up all the calories she consumed in a day (which was not much). Now she is taking in adequate calories because of her tube.
The only path forward for Olive now is up. I cannot wait to see how much more weight she gains and how she physically progresses. To tube or not to tube: it was not an easy decision, none of these decisions are when you have a medically fragile child, but the tube worked out for us.
My strong girl 🩷