Part 2: 6 to 9 months, The Road to a Diagnosis is bumpy and long, but you have to start somewhere...

Kai’s appointment for an evaluation to assess his physical abilities was set at the local therapy center in December. We had to wait a couple months to get in so I turned my focus on finding a doctor that would spend some time actually addressing my concerns. I had given up on the local pediatricians. I decided to take Kai to my family doctor. They were able to schedule Kai an appointment the next week for his six month well child visit. While at the appointment, I voiced my concerns about Kai’s development, by that time I had quite a few. Not only could he still not hold his head up and roll over, but he also was not really playing with toys, his hands were fisted, and he never really paid any attention to things on the wall or around him at a distance. My family doctor was great. He listened to all of my concerns and even asked why I had not voiced these concerns before. I told him the story of the other clinic visits and the ridiculous answers I was getting from the other doctors. He told me I had a long road ahead of me, and he was definitely right about that.

Our family doctor first referred us back to the original pediatrician’s office that Kai visited as a newborn. The pediatrician then sent Kai to the local hospital to have a CT scan of his head and some blood work done. I only waited a couple days for the results, but it was so stressful. I finally got the call after work one day. Kai’s doctor said the blood work came back normal and that the hospital reviewed his CT scan and had some concerns, but weren’t sure so they sent the scan over to the nearest Children’s Hospital for a second opinion. The second opinion came back with no concerns. The pediatricians advised us to wait and see. I told Kai’s doctor I was not willing to wait and see, so he referred us over to the Children’s Hospital neurodevelopmental clinic. We made the soonest available appointment which wasn’t until late December, over two months wait.

Unfortunately while we were waiting for these appointments Kai began to get sick. He started working to breathe. Some days were worse than others. I took him to one of the local hospital’s emergency room on numerous occasions throughout this time. Every time we went in, we would go back right away because I would tell them he was struggling to breath and they would do a chest x-ray. Then the ER doctor would come in and tell me Kai had a viral infection in his lungs. There was nothing they could do but wait for it to go away on its own. After two months of this, I started to get very concerned. I voiced my concern to the doctors every time, and they would just tell me sometimes a viral infection takes a couple months to go away.

On the last ER visit things got interesting. I was fed up! I told the ER doctor I refused to leave and wanted Kai admitted. I told him he would stop breathing sometimes and something was wrong. The doctor told me that I needed to stop bringing him there and to take him home. Apparently, according to this doctor, if he was admitted for no reason Kai’s insurance would not cover the cost, and I would have to pay the bill. I was very upset by this point; I was crying and telling him I knew something was wrong, but he just left the room and didn’t return. We sat there for over two hours. I did not want to take Kai home again without making sure he was okay, but no one even came in to check on us during this time. I figured he wouldn’t get very good care at this point anyway, so I left. By this time we only had about a week until his appointment at Children’s so I was just hoping Kai did okay until then and hopefully they would find out what was wrong.

In the midst of all of the ER visits we were able to get into the local therapy center for evaluation. By this point Kai was 8 months old. He was still not holding up his head or rolling. He was kicking his legs a lot, but only out and not up at all and he had a tendency to look upward. He did begin smiling all the time though, which was great! The center tested Kai using the Bayley Scales of Infant Development-Third Edition and the Battelle Developmental Inventory-2^nd Edition. The therapy center would provide services through their Early Intervention Program if Kai scored between 1 and 5 on the Bayley and a score of 77 or lower on the Battelle. Kai scored a 1 on both fine and gross motor skills on the Bayley exam showing significant challenges with his ability to move his body and control his head, and low muscle tone. Kai scored 90 for the adaptive development and a 74 for the cognitive development on the Battelle exam. His adaptive skills such as eating strained foods from a spoon, pushing food around in his mouth with his tongue and placing both hands on his bottle at feeding but not supporting the bottle were at the level expected for a child of eight months. Kai was not yet performing skills typical of an eight month old in the area of cognition. He enjoyed watching faces and was able to visually follow with his eyes and head. He also turned his head to follow sounds and responded positively to being held and visually explored his immediate environment. He was not using more mature gross and fine motor skills such as: reaching for toys, amusing himself with a toy, feeling and exploring objects. With these results Kai began occupational therapy ten days later in our home and daycare.

When we pulled up to the Children’s Hospital the next week, I was so nervous. I was hoping they would figure out what was going on. I had heard so many people mention how great this hospital was. We were about to find out for ourselves. We only had one appointment with the neurodevelopmental clinic. We entered the room, and I spent about an hour answering questions and explaining what had been going on: repeated respiratory infections, noisy breathing and developmental delays. The neurologist patiently went through every detail with me. Looking back now, I realize Kai had feeding difficulties, but I didn’t put it all together until this doctor put it all together for me. Kai’s weight was now below the 3^rd percentile, we were repeatedly putting his pacifier back in his mouth for him and he took over 30 minutes to finish a 3oz bottle. The neurologist wanted to get a CT scan, and I told him that Kai had one done and it was sent over there for a second opinion and we were told it was normal. He opened the scan up on his computer and looked at it in silence for a few minutes. He then turned to me and said, “Well, I am concerned.” I lost it. I just started bawling right there in the room. It was like my heart had just gained 15 pounds.

The neurologist we met that day would follow us through our entire journey. He never left Kai’s side from that day on, and became one of his best advocates. He admitted Kai that day for failure to thrive to address his feeding and respiratory issues. As I sat at the entrance waiting for Kai to be admitted, I cried and cried and cried. I missed a step. I didn’t make him right. At some point in the pregnancy, I messed up. These were the thoughts going through my mind. I held him and just cried. I still struggle with these thoughts today. Deep down, I know I didn’t do anything wrong, but when your child struggles I, like most mothers, needed to blame someone. I was the closest target, so blaming myself was the easiest thing to do.

The next morning, I was feeling better. I started to realize Kai was going to get the help he needed, and people were finally listening to my concerns and addressing them! I was told Kai had hypotonia, a condition of decreased muscle tone. Kai first met with the neurology team which ordered an MRI of his brain and blood tests which showed hypoplasia of the cerebellum. This meant his cerebellum was slightly smaller than the average size. The blood tests Kai had drawn wouldn’t come back with results for weeks. We also met with the infant feeding team, which recommended thickened liquids and purees. Kai had a video swallow study the next day to assess his feeding abilities. They fed Kai with many different consistencies of liquids, purees and bottle types. He failed this test. I was shocked. His oral phase was characterized by: overall oral phase inefficiency, uncoordinated suck-swallow-breath pattern, reduced tongue shaping, reduced bolus control, pooling on the floor and sides of the mouth and developmentally delayed. Kai was what they called a silent aspirator. When someone chokes while drinking a glass of water you will hear them say, “it went down the wrong pipe.” Well, Kai’s formula went down the wrong pipe every time he drank, but he didn’t gag. There was no reaction. It was during this time that I realized all of those previous chest x-rays that showed a “viral infection” in his lungs was really showing us the formula that had been going into his airway. Here again was a huge smack of reality for me. Looking back you can always see all of these obvious signs of what was actually happening, but I didn’t have the experience to identify what those signs were pointing to.

After the study, Kai was switched to only liquids that were the consistency of honey and purees. He was no longer able to drink thin liquids. Due to his suck difficulties, we had to squeeze his cheeks together while feeding him a bottle. We were all worried if Kai was going to be able to drink enough fluids this way. He was already weak when trying to suck from a bottle, and we were switching him to a honey thickness that was going to be even harder to drink.

While admitted, Kai was also examined by the hospital’s physical therapy center. Recently, Kai had stopped bringing his hands to his chest. While on his back his arms now remained on the floor. At home we started using towel rolls to help him sit in his high chair, but we were unable to use a bumbo chair, exersaucer or swing. His local therapist was making him some gloves to keep his hands open. Kai would bear some weight through his legs in supported standing. He was also starting to bring rattles towards his mouth which seemingly showed improvement. He was making several vowel and consonant sounds, but not yet babbling. When lying on his side Kai could roll to his back and could also hold his head up briefly while lying on his stomach but would tire out quickly. We were mostly working on tummy time to work on head control and side lying to practice bringing his hands up in front of his face to play.

The big question in everyone’s minds at this point was, is what Kai has a progressive disorder or a congenital disorder? Is he going to get worse, stay the same or get better? No one knew the answer, so I was just going to keep working with him to hopefully help him get stronger.

Kai proved to all of us he could drink enough of the thickened formula. He gained some weight, so we were sent home on our fourth day at the hospital. I had some answers, but not all of them. Just having some answers made me feel so much better. Having the answers to the current problems that were making him sick and having solutions to them was enough for me. I hoped that I would get answers to why Kai was weak, but I was happy with the progress made in just four short days.