My husband and I were so excited to have our third baby on the way. Mya was 5 years old and Frankie was 2 years old at the time. I was very tired this time around from keeping up with those crazy kids. At 30 weeks gestation Zoey’s placenta had started to tear from my uterine wall. We didn’t know it had torn at the time but I was put on bed rest for bleeding. At 35 weeks, after steroid shots for the baby’s lung development, I was allowed to move around. That day my water broke and I started to bleed rapidly. After about eight hours of labor the midwife called in the OB/GYN on call to do an emergency c-section. Zoey’s placenta was shredded beyond belief. It is a miracle that she lived those last five weeks. She was having a little trouble with tachycardia (rapid heart rate) and hypoglycemia so she went to the NICU while I was sewn up. I had lost a lot of blood so I wasn’t really aware of what was going on around me for about 24 hours. In that time the NICU nurses discovered that Zoey had a bit of reflux. I was assured that this would go away in a few weeks as she matured. In addition she had a poor suck which was attributed to her being late pre-term. I was told to nurse her and supplement with formula until my milk came in.
One week later at her follow up appointment Zoey had not regained to her birth weight. I attributed it to her severe reflux. Every time she nursed she would projectile reflux. She had dairy induced colitis. I went off of dairy and soy and it seemed to get better but what I didn’t realize was that Zoey was eating less. She was too tired it seemed to be able to nurse effectively. I tried a supplemental nursing system but she couldn’t coordinate her suck and swallow with the little tube in her mouth. Finally, after struggling for three months to get her adequate nutrition to grow I turned to doing all her feeding except one via a bottle. That’s when I realized something was VERY wrong. It took Zoey one hour to drink 2oz of breast milk by bottle. I took her to a speech therapist and they said that she seemed to have a high palate, and possibly a submucous cleft palate, and prescribed a special nipple for her to drink with. It took her 45 minutes to drink 2oz with the change to that nipple. Finally, though, she started to grow again. She gained some weight and grew in length. I was happy to know that my little nursling who would give me a smile when she nursed to sleep at naptime and nighttime was thriving on my milk via bottle throughout the day. Then the pediatrician told me that her head had not grown at all. He said that her head should have started to grow first. He recommended going to the geneticist.
The geneticist pointed out a few features that I had already noticed about Zoey that I thought were abnormal but were dismissed by the pediatricians at the hospital when she was born. She had a misshapen skull, almond shape eyes, a tented lip, a tucked chin, and fat little feet. The geneticist also pointed out her sandal gap toes, spindle like fingers, and her short pinky finger and thumb. She thought maybe she had a syndrome. She also noted Zoey’s sacral dimple and sent us to the Neurologist for evaluation. They drew blood on Zoey to check her for chromosomal abnormalities. It would take one month to get the results back!
One month! I was a mess. I cried daily from the stress of not really knowing what was going on with my baby girl. My three year old son, Frankie, and my six year old daughter, Mya, thought I was crazy and rightly so. Zoey took it all in stride. She still wasn’t rolling over, lifting her head during tummy time, or laughing but she did smile! She was now on Prevacid for reflux which took away the acid but didn’t prevent her from refluxing. She now developed constipation as a side effect of the Prevacid.
Around one month out from our genetics appointment we visited the neurologist. He stated that Zoey was hypotonic in her upper extremities but had excessively tight lower extremities with limited joint mobility. He ordered an ultrasound of the spine to evaluate her sacral dimple. At the same time he told us that Zoey’s genetic tests came back abnormal. He actually told us incorrectly that she was missing the genes located at 2q22.3 and 2q24.1 (boy was the geneticist ticked off when she found out he read us the results and read them wrong). Well, I asked for a printout of the results and called the geneticists for an appointment to discuss the results. I took the printout home and showed it to one of my friends who is a genetic counselor. She correctly told me that Zoey was missing all of the genes from 2q22.3 through 2q24.1 on one of the pairs of chromosome. I then looked this information up on OMIM gene map and found on my own that 2q23.1 microdeletion, located within that large deletion, is associated with mental disabilities. I am so thankful for finding this out before going to the geneticist. I cried for hours. I grieved for days. I showed my husband and he was able to work through his feelings before the appointment with the geneticist and was able to hold back tears while we were in the office. It allowed us to be prepared with questions for that appointment. The geneticist said that although the syndrome that Zoey has is typically a microdeletion (only that particular gene is deleted) that Zoey actually has a macrodeletion and was missing a large amount of DNA, 7.29 MB, and that only time would tell what additional impacts this would have on her life. We knew after the appointment that our lives were forever changed.
Meanwhile the results of the ultrasound showed that Zoey’s spinal cord was tethered and would require surgical treatment. An MRI of her brain and spine confirmed the tethered cord but also showed that Zoey has an underdeveloped frontal lobe and non-focalized speech centers. All this explained her poor motor skill development, her poor feeding skills, and her lack of babbling. However, Zoey proved to us that she can laugh and starting laughing at about six months old. She even laughed twenty four hours after her spinal surgery at 11 months. She recovered well and suddenly rolling and sitting became easier for her. She still had tight hamstrings but they began to loosen up. Her constipation issues began to resolve as we put her on the toilet after meals to stimulate defecation. We believe that her spinal surgery also helped her constipation by correcting the nerve conduction through the spine to her bowels.
At 15 months old Zoey was essentially a six month old. She could sit but could not pull herself to a sitting position. She could roll but did not roll to get to where she wanted to go. She could feed herself small pieces of soft foods but had problems with chewing. She liked to mash the food with her tongue instead of her gums and food often fell out of her mouth. She took 20 minutes to drink a 4oz bottle and couldn’t sip through a straw or drink from a sippy cup. She refluxed 20+ times a day. We called her the volcano sister because she was always erupting. But you know what Zoey did do at that age? She played with toys, she ate toilet paper when we were not looking, she pulled our hair to hear us scream, she loved to play peek-a-boo, she would give kisses and hugs, and she laughed the best laugh in the world.
Fast forward to 27 months! A two year old! Zoey was developmentally 6 months old verbally, 10 months in her receptive language skills, 10 months old in fine and gross motor skills. She could crawl, although she preferred to drag one leg and hop like a frog. She could pull to standing and would stand for 1 or 2 seconds before she dropping to the floor. She could feed herself finger foods but still choked sometimes. She couldn’t use a spoon or fork but would bang them and throw them! Ha! She still mashed food with her tongue if it’s soft food but used her teeth to chew crunchy foods. She took 10-15 minutes to drink 4oz from a bottle. She could sip a sippy cup but would spit the liquid out because she was unsure what to do with it all in her mouth. She refluxed about 20+ times a day but was able to swallow most of the time and really only spit it out six times a day. We called her “snail” because she would drag her leg through the spit up and leave a streak on the floor. She didn’t run at the park, or slide, or swing. She was scared by loud noises, people yelling, and choirs singing. She couldn’t tell me what she wanted and was easily frustrated. But you know what Zoey could do at age two? She spilled the trash every day and dumped the dog water out. She always pooped in the toilet! Woohoo! She said, “Mamamama,”when she hugged me and we thought she said, “Babababa” for Papa. She still loved to play peek-a-boo, she gave kisses and hugs, and she laughed the best laugh in the world.
At 29 months we got rid of the bottles and exclusively used a sippy cup. Zoey couldn’t get any liquid from the spout so she would chew the nipple until it broke and then the liquids would poor into her mouth fast. Because she no longer was being hydrated by bottle, she wouldn’t spit this big volume out but would swallow it. During the next six months she had pneumonia twice and constant ear drainage. She had a modified barium swallow and found that she was aspirating thin liquids. She started to drink ½ nectar thick liquids. To improve her suction, and hopefully be able to move to a straw cup and forgo Zoey biting sippy cup nipples, we had her palate evaluated by a palate surgeon. He confirmed that she did indeed have a submucous cleft palate. In October 2014 she had her submucous cleft palate repaired as well as a pharyngeal flap to help her make more sounds. Two months after her surgery she began to say “Baba” consistenly while interacting with her Papa. She also said “ight” for white or light, “hard”, “my vava” for my brother, and “hide”. Her ears tubes stopped draining too! She could drink six ounces of chocolate smoothie from her straw cup but prefered the sippy cup for her ½ nectar thick juices. She still mashed soft foods with her tongue and chewed crunchy foods with her teeth. She had verbal language skills of 6 to 10 month old and receptive language skills of a 12-18 month old but she was able to convey her needs with sign language, gestures, and tone of voice. Zoey’s gross motor skills were that of a 10 to 12 month old. She could cruise everywhere but could not take independent steps. Her preferred method of going across the room was a two legged bunny hop/crawl. She was no longer the “snail” and we were able to wean her off of Prevacid and started using lemon essential oil on her left arch to help with her reflux. She was spitting up about three times per day. She was still scared of loud noises, people yelling, and choirs singing. She couldn’t run at the park or climb on her own, she didn’t enjoy going new places, and she had an irrational fear of the number ten. She didn’t eat with a fork and spoon or off of a traditional plate. She tended to food stuff so we have to give her one piece of food at a time. But do you know what Zoey the three year old could do? So much more than Zoey the two year old. She could stand on her tip toes and pull everything within reach off of the counters which has earned her the nick name “Destructo Baby”. She could swing at the park and go down the slide sitting up! She liked to hide in empty kitchen cabinets so much that we cleaned one out as her “hidey hole” so that we could stop having to put away all of the storage containers every day! She listened closely to what you are saying and then signed a word from your sentence if she knows the sign! If you ask her to say her sister’s name, “Mya,” she signed the sign we taught her for Mya (throwing the letter M), but she made up her own sign for her brother. When asked to sign Frankie, she would give herself a spankin’! We say, “Frankie’s got my back,” but we think that she though he was a bad boy. She would laugh at you if you made up a rhyme, anytime. She liked to help clean up spills and loved to try to color with assistance. She enjoyed reading books but also got satisfaction from tearing the pages out and eating them. Thankfully, she still pooped in the potty! Woohoo! She had a joke, when using the potty, to pull the lid down on her back and then wait for me to say, “No turtling!” And, of course, Zoey still loved to play peek-a-boo, give kisses and hugs, and she laughed the best laugh in the world.
This past year has been a crazy one! For a long time we have suspected that Zoey has sleep apnea which was pointed out to us by anesthesiologist on duty during Zoey’s second surgery for a new of ear tubes in July 2014. We tried to get into the sleep clinic to see a pulmonologist but needed a referral from our neurologist. It took until December of 2014 to get into the neurologist. This was after Zoey had already had her submucous cleft palate repair. Unfortunately, the doctor who did the palate repair didn’t know of Zoey’s suspected sleep apnea and added a pharyngeal flap to her anatomy. This worsened the apnea. Zoey has always had problems with sleeping and would stay awake for hours at night. We liked to call this InZomnia. We finally got to see the sleep doctor in May of 2015. Zoey conveniently took a nap in the doctor’s office and the doctor saw her sleep apnea while she was napping! She recommended first going back to the ear nose and throat doctor to see if Zoey had large adenoids. She needed new ear tubes anyway so her ENT decided to check her adenoids and remove them if needed while placing ear tubes at the same time. They were large! Unfortunately, her head is the size of a six month old and the pediatric surgery center did not have equipment tiny enough to go through her nasal passages to remove her adenoids. Her ENT also said that it looked like her pharyngeal flap may have too much scar tissue. So in June, her ENT special ordered equipment that was her size and teamed up with the craniofacial surgeon to remove her adenoids and modify her pharyngeal flap. Two months later her sleep apnea was still raging. We did a sleep study with the pulmonologist and they found why Zoey has Inzomnia. Her body was waking her up over 103 times a night to get her oxygen levels back up to normal! I’d give up trying to sleep too if I woke up that many times. So now Zoey has a CPAP machine and wakes up about two times per night. We call it her silly nose. She doesn’t mind it at all and will go get it when she’s ready to sleep. She makes a snoring noise when she brings it to us.
Another contributor to her poor sleep may be that Zoey has Autism. She was diagnosed with Autism in October 2015 just a few weeks before her 4th birthday. Although she is social with family members she has many autistic behaviors including teeth grinding, chewing her fingers, chewing her clothes, stemming (she covers her ears and rocks when something isn’t right and tucks her arms in a funny way when she doesn’t want to touch certain textures), avoiding interaction with people not in her family, inability to engage in normal play (she just dumps toys out and bangs them together), as well as repetitive behaviors and lack of speech. Her developmental pediatrician believes that the reason Zoey is so far behind compared to other children with 2q23.1 microdeletion is because she has Autism in addition to 2q23.1. There is research now that implements the gene MBD5 located at 2q23.1 as a causative gene for Autism. We don’t see this as a negative diagnosis because it doesn’t change who are sweet Zoey is.
Overall, Zoey the four year old is very similar to Zoey the three year old except that we added a few more diagnoses this year and she’s walking!!! Zoey started walking at 3 years and 3 months old. It’s been over one year since she started walking and she is still quite wobbly. She wears orthotics to help with her balance. She’s lost a few speech abilities over the past year. Her ability to make sounds was lost after having nitrous oxide before sedation for an MRI of her spine. Apparently it can cause mild brain damage in kids who have mutations in a gene for folate metabolism, MTHFR. Zoey has these mutations. Luckily for me she retained her ability to say, “Mama.” She still uses sign language but this also seems to come and go. She still mashes soft foods with her tongue and chews crunchy foods with her teeth. She still drinks thickened liquids too. Her language skills haven’t changed much and are still that of a 6 to 10 month old verbally with receptive language skills of a 12-18 month old. Zoey’s gross motor skills are now between 12 to 18 months old because she is walking. We still use lemon essential oil for acid reflux but started a motility drug called bethanecol to help her stomach to empty a bit faster. She was having non-acidic reflux that was causing some mild inflammation of her esophagus.
She is still scared of loud noises, people yelling, and choirs singing. She can’t run at the park or climb without supervision and she doesn’t enjoy going new places. She is still very tiny and wears size 24 month clothes and size 3 toddler shoes. She can’t color, cut, or paste like a typical preschooler. She doesn’t sing, dance, throw a ball, or jump. She isn’t a typical four year old but you know what she is doing? She is trying to eat with a fork and spoon but needs assistance to get it to her mouth without spilling the food (we still have to control how much to eat too – food stuffer). She loves her booster seat to be at the table instead of using the tray on it and will sign table if you haven’t pulled her up to the table. She still is “Destructo baby” but has a new twist to the game and so has earned the nickname “Puts Baby”. She likes to “puts” everything in the bathroom sinks. Hey, at least my floor is cleaner, right? She’s figured out that it’s still fun to dump the storage containers on the floor so there is room for her inside the cabinet instead of playing in her hiding place in the kitchen. She brings books to her big sister for her to read to her and signs “book” and “please”. She picks fights with her big brother by smacking at him but also enjoys sharing her ride on toy with him because he can make them go fast when they ride together. She still laughs at you if you make up a rhyme, anytime. She also laughs at alliteration. Just try, “Baby, bubble, bird, boo.” It will make her chuckle. She loves Curious George and will sign Monkey when she wants to watch him and throws a raging fit if told she can’t watch it. She still poops in the potty! Woohoo! And, of course, Zoey still loves to play peek-a-boo, give kisses and hugs, and she laughs the best laugh in the world.
Not so much a baby anymore! My sweet girl is a toddler! Usually these baby and toddler years slip by so fast. Someday she will be a big girl but she will get there at her own speed. She is our perpetual baby but she is our blessing and will always be our sweet baby girl.
This little girl can warm your heart in just two seconds from a laugh or a smile and she can hurt your head in just one second from hair pulling….gotta lover her!
She sounds like an absolute joy! My daughter, who is 5, and has 2q23.1 microdeletion. She had a tethered spinal cord as well. She was diagnosed at 3 months and had surgery at 13 months. Unfortunately her bladder, bowel, and muscle tone have never improved, but she has adapted incredibly well. Before she learned to walk at 2.5 years old, she works carry toys with her feet as she crawled. Lol. Keep up the good work and contribute enjoying every possible second with your princess!!!!
What a wonderful story. Sounds like she is a “very special” daughter. Thanks so much for sharing.