Loghan’s Story Part 9: RERE Syndrome – Explained

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I’m going to start this post by recapping a tidbit from Part 1 of Loghan’s Story. If you missed any of Loghan’s story and want to catch up, click here. On August 28th, 2019 we were told Loghan has Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) also known as RERE Syndrome (arginine-glutamic acid dipeptide repeats). It’s a mouthful, right?!

In a nutshell and in my best MOM lingo, the RERE gene is responsible for making a protein that gives instructions that are critical for normal development before birth. According to her geneticist, RERE is a newly discovered condition with only 18 published cases and only 30 people worldwide that have been diagnosed to date. With little to go from, what we do know is that it explains her birth defects and developmental delays.

There is a plethora of birth defects possible with RERE syndrome. Below is a list of birth defects specific to Loghan’s diagnosis.

✔ Diaphragmatic hernia

✔ Entropian, both eyes

✔ Esotropia and Epiblepharon, right eye

✔ Hypotonia aka low muscle tone

✔ Mild sensorineural hearing loss in both ears

✔ Mild volume loss in the posterior body of the corpus callosum

✔ Mild nonspecific T2 hyperintensity in the periatrial white matter

✔ Delayed development of speech and motor skills

In Loghan’s case, she has a duplicate “G” at the 3,741st letter of the RERE gene. The normal sequence is TCGGCCCG and for Loghan it is TCGGGCCCG. RERE is also considered “de novo”, which means it did not come from either parent. This is actually something that helped ease some of my MOM guilt. You might be thinking that I shouldn’t feel guilty, but when you are confronted with a situation such as ours, guilt is just one of the many emotions I have gone through.

If you are wondering just how this happens, rest assured that I was thinking the same thing. Mutation occurs in the egg or sperm cell before fertilization, or immediately after fertilization, however, there is a <1% chance that this would happen again in future pregnancies. RERE is also considered autosomal dominant, which means Loghan has a 50/50 chance of having a child with RERE in the future. Even though that is a long ways away, it is still a scary thing to think about.

With all of this is on the table, let me explain some of the big words, in my best MOM lingo of course. The mild volume loss of the corpus callosum could mean multiple things. This is basically the connector that communicates between the right and left side of the brain. This can affect things such as walking, talking and coordination.

The T2 hyperintensity, or bright spot, is just saying there is a spot in the brain that is different from the rest. From what I have read, this can be associated with forms of physical disability such as muscular strength, fine motor coordination and slower information processing. This could help explain Loghan’s lower muscle tone and developmental delays.

With all this being said, we will not know the extent of Loghan’s developmental delays until she gets older. All we can do is be proactive and treat her symptoms as they arise. One way we are doing that is by making her DIY parallel and monkey bars she can use at home and at daycare. She is also doing physical therapy twice a month through Sanford Pediatrics and is enrolled in the Birth to Three program where she gets additional physical therapy sessions weekly and speech/food therapy and education as needed. I will talk more about the free programs in future posts.

I’m optimistic that we are ahead of the game and with the team of doctors she has following her and our own support system of friends and family, little miss Loghan is going to thrive. As a mom, I am out to prove everyone wrong and if you know me, you know I’ll do just that! Loghan might be little but she is strong, stubborn and has a mama that will fight tooth and nail to get her what she needs to succeed!

I will continue to post updates to Loghan’s story as she learns and grows or if we learn new things about RERE syndrome. In the meantime, the next post in this series I am going to talk about Loghan’s eye surgery.

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