Cognitive Age: 12-18 months
Therapies: Physical, occupational and speech therapies
Schooling: Elijah attends Apparo Accademy, a preschool designed for inclusion and early intervention. There are children of all abilities enrolled in the program but full time nursing and therapists on staff make it the ideal environment for kids like Elijah
Siblings: Brileigh (12) and Owen (9)
Parents: Jennifer Cooney
Kabuki Symptoms: Low bood sugar at birth, jaundice, eventration of the diaphragm, anal stenosis, torticollis, plagiocephaly, severe GERD, high arched palette, severe hearing loss, chronic ear infections, feeding difficulties and dairy intolerance leading to failure to thrive and gtube placement, global developmental delay
Elijah's Story: Elijah was Jennifer’s third baby, so she thought she knew what to expect when she found out she was pregnant. What she didn’t expect was to have more questions with Eli than her other two, or to be referred to a high-risk OB/GYN after her 20 week ultrasound showed that Eli’s spinal column was measuring too wide. A 3D ultrasound was conducted and all of the standard genetic testing came back normal, so she was given the all-clear. She ended up failing the 1 hour glucose test, but passed the 3 hour by 1 point so no gestational diabetes diagnosis was given.
So Jennifer went on with life as any mom would, caring for her two older children while waiting on Elijah to make his appearance. Two weeks before he was due, Jennifer woke up with some discomfort and went to the hospital. She checked in at 7:14am and Elijah was delivered at 7:19am! Talk about progressing quickly. Unfortunately, this is where Eli’s problems began to show up. His APGAR scores were low, he was smaller than they thought he would be and doctors determined that Jennifer had prolonged rupture of membranes. Eli was immediately started on antibiotics and glucose through an IV.
Elijah wasn’t allowed to leave the nursery. On his second day of life, nothing was improving. A full workup was conducted. His bilirubin was high, his oxygen saturation was in the 80s and it was decided that he would be transferred to the NICU at the Children’s Hospital of Georgia. While they were waiting for transport, Elijah had episodes of tachycardia and bradycardia, solidifying the decision to transfer him. He would spend 8 days in the NICU, spending his first 10 days of life in the hospital before being discharged to go home.
Upon discharge, Jennifer had zero answers. An X-ray showed a mass in his right hemi diaphragm that they would have to follow up on with a CT, but because he was handling things well, it was determined they could wait until he was a little bit bigger to sedate him for the CT. Around 2 months old, a repeat X-ray was conducted. It showed growth in the area, and the doctor was pretty confident that Elijah had a cyst on his lung. It would need to be surgically removed, so a CT was still needed to determine if this was the case. The scan was completed when Elijah was 3 months old and the findings were positive: No congenital pulmonary airway malformation (CPAM)! His diaphragm had an eventration, but nothing would require surgery.
Still, there were things going on that Jennifer knew weren’t right and was on the hunt for answers. He was in constant pain and constantly sounded congested. At his 4 month well check, Elijah was diagnosed with torticollis and plagiocephaly. He began physical therapy twice a week and saw neurosurgery which prescribed a remolding helmet for his head. Jennifer self-referred to her state’s early intervention program around this time and they also had a follow up with pediatric surgery where Elijah was diagnosed with anal stenosis. It was a partial answer for the pain he was in and he was started on anal dilators to treat the problem.
But, as with many Kabuki kids, this would not be the end of it. Around 5-6 months of age, Elijah started vomiting daily. Then after every meal. His pediatrician didn’t want to do anything, so Jennifer found a new one who prescribed a reflux med. It helped some, but didn’t completely fix the problem. His congested sound when breathing persisted, so at 7 months they saw an allergist thinking it was still lung related. The allergist disagreed and sent them back to the pediatric surgeon, citing Elijah’s reflux was not well controlled and the allergist thought surgery may be necessary. The surgeon disagreed. The eventration of the diaphragm would have made it harder to close off the stomach properly, but he also didn’t think the surgery was necessary. Back to square one.
Thankfully, Jennifer had been discussing Elijah’s medical problems with his PT twice a week. They listened and took notes of his medical history. Jennifer was beginning to introduce a spoon and Elijah started getting chronic ear infections. One day she told the therapist, “His ears hurt so bad! He won’t even swallow, he ist just gasping down his food in one breath.” To which the therapist suggested consulting speech therapy. A referral to ENT was also made and it was determined Elijah would need tubes. But it was at speech that she finally got her answers. Elijah was nearly 8 months old and not one person, not one doctor recognized that he had been showing all of the classic signs of aspiration for his entire life.
At nine months old, Elijah was diagnosed as failure to thrive. He was referred for a swallow study, GI consultation and neurology because on top of everything else, he had not met a single milestone, even with PT twice a week for five months.
The appointments kept coming and Elijah was getting sicker. His first set of ear tubes were placed at 10 months old. His swallow study showed he aspirated any liquid thinner than honey. GI decided he had a dairy intolerance and his body wasn’t absorbing any nutrients, but instead it was attacking his nutrition like a virus. This was the source of his pain and bowel issues, so they put him on an amino acid-based formula which had to be thickened to honey consistency.
Throughout all of this, Elijah failed every hearing screening they gave him. He required sedation for an auditory brainstem response test, where it was discovered he would need hearing aids for both ears.
Meanwhile Elijah struggled to adjust to his new diet. He lost weight and kept getting bronchitis and pneumonia. Finally, after four months of weight checks and feeding therapy, GI suggested placing a G-tube. He had the potential to gain weight, but he wasn’t strong enough to take in the calories he needed, plus his reflux caused him to lose almost a third of what he took in. The problem was that anesthesia wouldn’t touch him because he was so sick. Three months of rescheduling the surgery caused Jennifer to contact the head of anesthesia herself. His feeding tube was finally placed at 16 months of age and Jennifer is convinced it saved his life. She remembers a time when she was finally able to tell a friend that Elijah had three good days in a row, and by good days that meant Elijah was soothable. There’s nothing worse than listening to your child be in pain and upset all day every day with no answers. So even though he was still vomiting and having bowel issues, being able to calm him down was a definite cause for celebration!
During the whirlwind of appointments, Jennifer took Elijah to a geneticist. He was 13 months old and still had no diagnosis. They had waited 8 long months for this appointment! Jennifer had given up on finding answers at this point and looked forward to the day he would “grow out” of this phase. In February 2019, she received a call from the genetic counselor letting her know that the initial testing didn’t show anything. Due to his medical history, they wanted to do further tests and she heard the words “Kabuki syndrome” for the first time. She did what we all did upon hearing those words: Research.
“My entire life broke apart and put itself back together that weekend. I’m not sure I even slept, I just researched everything I could on KS. I found the ATK community on Facebook and quickly learned that these people would be my best resource,” she said. She wasn’t wrong because in March of 2019, she got the call. Elijah’s bloodwork shows the KMT2D gene mutation. Later that month, Elijah had his feeding tube placed. And thus, their journey had a direction.
Since then, besides a bout of rotovirus, Elijah’s medical journey has been uneventful. Which is great news! He’s now two years old, attending an amazing school with nurses and therapists on staff, wears hearing aids, is walking, learning signs and he finally hit the growth chart! He may need new ear tubes soon due to continued infections. He has a sleep study scheduled to hopefully rule out sleep apnea, but it hasn’t been completed yet. He continues to get his therapies and while he gets about 70% of his nutrition through his tube, he’s also an oral eater. He’s making forward progress, and that’s all any parent can ask for!
Elijah’s Favorites: "Elijah has made incredible progress over the last few months. He really enjoys the routine of a school day and going to therapies. Whatever skill he is working on in PT and OT is his favorite thing to do at home. He loves clapping and making his family laugh."
Elijah's Relationship with his siblings: "Elijah's siblings have loved him since before he was born. They've been great helpers and very understanding to his needs. His sister especially loves to tell his story and share her love for him with everyone she meets."
Advice for Kabuki families: "Allow yourself to feel ALL the emotions that come with this diagnosis. I think special needs parents NEED "bad days". What they don’t need is the self guilt or shame for having weak moments. Before I was a special needs Mama, a woman I admire very much gave me this advice (she has two boys with EoE and severe food allergies), "We are all given the same 24 hours in a day. If I have a bad day, I let myself have a bad day. But I never allow myself to have 2 in a row."
I think this sticks with me so much now because its self permission to accept all that comes with this life without feeling bad about it. There are going to be some really hard days and you need those as much as the normal days. It’s important that we accept the lows so we can better celebrate and appreciate the highs.”
Advice for parents of “typical” children: "If you browsed the medical files of these kids, the one common theme you'd notice is they are warriors. They have fought hard for their lives and every ounce of success they achieve. Help us celebrate even the smallest of victories. Encourage your own children to ask questions to LEARN about them, not talk about them. Encourage them to interact and be kind."
How Elijah has impacted the family: "While a special needs child impacts everyone in the family, being a Kabuki mama has impacted me in huge ways. Kabuki has made me brave and given me courage. I am mentally and emotionally stronger than I ever thought possible. When I am feeling weak and discouraged, I remind myself that if he can, I can too."
Elijah is a very special little boy. He was present in Cleveland in July 2019 at the ATK family gathering where I had the pleasure of meeting him and Jennifer. Elijah is extremely social and will go to anyone who shows him attention! He loves to be on the move and bat his gorgeous eyelashes to get what he wants. Given how adorable he is, I’d imagine it works about 95% of the time! As Jennifer can attest, getting the KS diagnosis is only the beginning. It’s a starting point, answers to problems that have persisted since birth, and entrance into this giant village we all use for support and love. Elijah is stable, he’s happy and most of all he is loved! Jennifer’s persistence to fight and advocate for Elijah shows just how important it is that we never give up, we always trust our instincts and we fight for our kids!