This is just a short post, kind of a bonus episode if you will, to bridge the gap up to Baby Girl’s genetic testing.
A week after we learned Baby Squirrel was Deaf, we met with her Craniofacial panel of doctors and surgeons. We saw this team for the first time while I was still pregnant, after we found out via ultrasound that she had clefting. This team included her plastic surgeon, geneticist, ENT/Head and Neck surgeon, psychologist, social worker, speech and language pathologist, orthodontist and pediatric dentist, and maxillofacial (jaw) surgeon. After they filed in one by one to meet with us, they held a conference to formulate a complete treatment plan.
With her latest diagnosis, audiology and speech and language pathology were stricken from her treatment plan. She will never hear and consequently will never speak so no medical intervention is necessary, just to keep working with her Early Start Deaf and Hard of Hearing program.
At the time she was 9 months old and didn’t have any teeth yet, so the oral surgeons didn’t have much to go on. We knew from our initial meeting that they wouldn’t have much of a role until she was older, about 7-8 years old, when her adult teeth begin coming in. To bridge a cleft in the gums, currently the procedure is to take bone from the patient’s hip and implanting it in the upper jaw, grafting tissue over it to complete the jaw. (This means she’ll most likely also have some fancy veneers.) However, new methods are advancing so there is no way to say what the procedure will be when the time comes.
After Baby Girl’s cleft lip was repaired, while we were in the PICU recovering from complications from the surgery, her plastic surgeon would routinely come check on her. He seemed genuinely scared by her development of septic shock and declared that he was taking her cleft palate repair off the table indefinitely. For a typical child, cleft lips are repaired when the child is 3-4 months and at least ten pounds; palates are typically repaired at 1 year of age. When we met again months later at the Craniofacial panel, he elaborated – we now had more information. Her surgeon didn’t want to close her palate because he didn’t want to risk her getting that dangerously sick again, she didn’t need it closed for speaking, she didn’t eat orally yet, and it actually helped her by giving her a larger airway. And as an added bonus, waiting to close a palate allows the upper jaw to continue to grow naturally, while closing it can cause thick scar tissue to stunt its growth, requiring more orthodontic procedures later on.
To back up again, while Baby Girl was still in the NICU, I started to notice that her head was getting flat on one side, along with her forehead appearing asymmetrical. The nurses were good about changing her position but one side of her crib had easier access so she tended to face that way. Once she came home I tried positioning and Tortles to correct it but she had no neck control, and her airway was so fragile that limited positions were safe for her.
Fast forward to her Craniofacial panel, I mentioned this flattening of her head to her plastic surgeon and he prescribed her a Cranial Band aka a helmet. Long before marriage and kids and reality, I used to see kids with helmets and feel embarrassed for the baby and the parents. Clearly there is something wrong with the kid. However by the time Squirrel was 10 months old, we had already experienced so much that a helmet was the least of our worries. Although I had been aware of my own previous prejudices of children with helmets, I was still caught off guard by some assumptions people had for why she had one. I understood when people guessed if it was for seizures or epilepsy, it does look similar. However, I had adults (plural) ask me if she had it because she was missing the top of her skull… -_-
For once this poor girl had something that wasn’t medical, strictly for aesthetic purposes – I wanted her to look more normal and not have a asymmetrically flat head!
She was measured and fitted and I ordered her a light pink helmet. The makers of the helmet tried to talk me out of it. Squirrel would have to wear it 23 hours a day, with a one hour break for baths. And it was summer time, they are hot and get really smelly from sweating. She was also on the older side so they couldn’t guarantee marked improvement that would be expected with say a 6 month old. But I wanted to give it a shot, she already has so many thing about her appearance that stood out, if a helmet could cross one thing off that list I wanted to try it. At home I ordered her big bows to attach to it. She was going to rock this thing!
Photomontage time!
During this time she also had a pH probe test, you’ll see it taped to her face, but to write about it would require including a longer backstory. If you really want to hear about it please message me. Taking Baby Girl out in public makes me extremely anxious because it feels like everyone is staring at us. On top of a baby on oxygen, add a helmet and a pH probe down her nose and taped to her face and all eyes really are on us. Some people would stare as they walked by, some people would politely smile at us, and others would blatantly walk into our path in front of our stroller to stare at her. I wanted to scream at these people. I felt like I was being a bad mom by not scolding these people. However I realized these people honestly don’t know any better and I needed to give them grace. I almost went as far as tattooing a reminder on my wrist but I opted for an engraved bracelet instead. The correct answer is smile, smile if you must look. Even better: smile, say hello, and ask questions!!! I will gladly answer any questions you have about my daughter, just don’t fucking stare.
Bonus montage of the twins passing out in different places:
OK, one last one of their first birthday since I don’t feel like blogging about it:
And after just 2 months, a week and a half after their first birthday, she graduated from her helmet.
Coming up next: Upon learning of her lack of auditory nerves, genetics got involved again to hopefully find out why they never formed. Since her early birth, doctors have been trying to determine whether her various conditions are due to errors in her DNA, or consequences of prematurity. Prior to the Craniofacial panel meeting, I spoke on the phone with our geneticist. After reviewing Baby Girl’s medical record, the geneticist believed she may have a condition called 3C syndrome. She had blood taken and we waited. Three weeks later the results were back, and like most tests done on Baby Girl, the results were inconclusive:
“The testing we ordered looked at a panel of of 16 genes: AHI1, ARL13B, B9D1, CC2D2A, CEP290, INPP5E, KIAA0196, MKS1, NPHP1, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM216, TMEM67, TTC21B. The ones most associated with 3C syndrome are KIAA0196 and CC2D2A.
We received the testing result and it was negative – No sequence abnormality was detected. In other words – no spelling error was detected in any of these genes.”
Her geneticist was surprised and the decision was made to do an entire genetic testing of Baby Girl. Four months, and 20,000+ genes later, we had an answer. “Next time, on Serial.”
Momma Swears A Lot 