More About 5p- & Ellie's Experience Thus Far

Today is International Cri du Chat Awareness Day, so I wanted to give a slightly more in-depth overview of what Cri du Chat Syndrome is and how it has affected Eliora thus far. Here are some quick facts; references can be found at the end of this post.

Cri du Chat Syndrome is a rare genetic defect that results in delays on a spectrum in physical development, gross and fine motor skills, cognition, and speech and language. It is caused by a random chromosomal deletion on the short (p) arm of chromosome 5, which is the reason for its other name, "5p- Syndrome" (5p minus Syndrome).

If you've never heard of 5p-, you are in good company; only 50-60 individuals are diagnosed in the U.S. annually. We had never heard of it, either. It occurs in an estimated 1 in 50,000 births.

The most common characteristics of children with 5p- Syndrome include: high-pitched cat-like cry (this is due to an underdeveloped larynx), low birth weight/slow weight gain, feeding difficulties, microcephaly (small head size), and several physical characteristics (such as wide-set eyes, etc.). A small percentage of children have major health complications in organs such as the heart or kidneys. We are grateful for the fact that individuals with 5p- Syndrome, barring serious organ complications, have a normal life expectancy.

As children grow older, there are common behavioral issues which can become aggressive or self-harming, yet much of my research has also shown that 5p- kiddos have happy and excitable dispositions. Other common struggles include sleeplessness and constipation.

Individuals with 5p- Syndrome will likely need a lifetime of support from family, of course, as well as physical therapy, occupational therapy, speech therapy, behavioral therapy, and perhaps other alternative therapies. There are no guarantees that Eliora will learn to walk, develop verbal speech, or achieve toilet training - though we are praying that she will on all fronts! Early intervention is crucial and we have already begun to pursue these avenues.

Eliora's experience with 5p- Syndrome is largely yet to be revealed. So far she presents with some, but certainly not all, of the issues and characteristics of babies with this diagnosis. As I wrote in my first post, she has the sweet and distinctive high-pitched cry that gives Cri du Chat its name. She does have a relatively small head, though she was born at a healthy and average weight of 7lb 8oz. By far her most significant challenge has been feeding-related.

When Eliora was born, everything went fairly well with delivery except for the fact that I ended up losing half of my blood and required a transfusion of two units the following day. The new blood did not have my "mama hormones," and so my milk production was delayed. Breastfeeding was not well-established from Day 1, so we spent all of our energy in the hospital syringing formula into our very lethargic baby's mouth (which broke my heart, by the way; I will elaborate more on this experience in a later post).

Nursing continued to be emotionally exhausting and unsuccessful, so I began exclusively pumping and bottle-feeding Ellie as much as she would take. The first week we were home was grueling as she would not eat half of what was recommended. Chris and I often spent an hour or more trying to feed her a mere ounce or two of my milk, but during that hour Ellie was either unable to wake up or screaming at the top of her lungs. We think the screaming was due to discomfort in her tummy from an insane amount of gas we spent hours daily trying to help her pass. Usually she did not finish the bottle and by the time we got her settled down again we would need to start the process over again in an hour or less.

What an overwhelming, never-ending cycle. It is only by God's grace that we persevered on so little sleep and still managed to love and serve one another. A verse I regularly returned to is 2 Corinthians 12:9-10...

"9 But he said to me, 'My grace is sufficient for you, for my power is made perfect in weakness.' Therefore I will boast all the more gladly of my weaknesses, so that the power of Christ may rest upon me. 10 For the sake of Christ, then, I am content with weaknesses, insults, hardships, persecutions, and calamities. For when I am weak, then I am strong."

Because she was initially not gaining weight, I brought her back to the pediatrician to be weighed and examined several times. Each time I told the doctor what we had tried and showed her the meticulous charts we kept of the time we spent feeding, what she ate, how many diapers she soiled, etc. and there were really no ideas about why she was struggling so intensely. The best advice I received was from a nurse in the office who suggested trying a bottle with a faster flow nipple so that when Ellie would suck, she would get more milk and not have to work quite as hard. This actually made the difference and over the course of a weekend she gained more than enough weight to satisfy the pediatrician.

Once Ellie was getting enough food, we realized that on top of major gas, she seemed to have additional discomfort in her belly. Every feeding she would hit a certain amount of milk intake and begin screaming, arching her back, and rooting but was too upset to eat. It was so difficult to watch her struggle and demonstrate such frustration and discomfort.

Because her spit-up volume increased, I took her in to the pediatrician yet again and we agreed that she probably had Gastroesophageal Reflux Disease (GERD), and she has been on Zantac ever since. GERD is a very common complication of 5p- Syndrome, but it is certainly not exclusive to Ellie's condition. The medicine has been very helpful in helping her keep her milk down and she has finally been able to eat a normal amount without excessive fussing, though not every time. Eating has seen much progress but also periodic regression. Her gas has improved tremendously after I took myself off of the iron supplement that was prescribed to me due to the blood loss I experienced delivering her.

As it turns out, feeding difficulties in 5p- babies have additional causes besides GERD and gas. These babies often have poor sucking and swallowing reflexes which make breastfeeding incredibly challenging and even bottle-feeding a ton of work. Over the past nine weeks we have certainly seen improvement, but it continues to be a challenge and will likely continue to be one especially once solids are introduced. I will actually be taking Ellie to a speech pathologist who specializes in feeding difficulties on Tuesday 5/7, so I am eager to receive her input on anything we can do to help her eat.

Ellie has unique charm and challenges just like any other child. At the end of the day, her diagnosis is not her identity but does give us insight into the child the Lord has entrusted to our care. Understanding Ellie's condition has helped and will continue to help us care for her more effectively.

For Cri du Chat Awareness Day, I've included a picture of us participating in the Stripey Sock Campaign. The socks symbolize the 5th chromosome, one shorter than the other to represent the deletion.

Thank you for taking the time to learn about 5p- Syndrome and how it has affected Eliora thus far. We are so grateful for the encouragement we have already received from our readers, and we continue to pray that this blog will be a God-glorifying blessing to many.

References:

https://fivepminus.org/

https://rarediseases.info.nih.gov/diseases/6213/cri-du-chat-syndrome

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cri-du-chat-syndrome

#criduchatawareness #stripeysocks