Our sweet son Holden was born in April of 2015. He was diagnosed with KAT6A in December of 2016. The doctors told us there were issues present during the pregnancy. Holden had enlarged kidneys and calcium deposits on his heart and bowel. We saw a few specialists and had some tests ran but nothing showed any major problems. I was also diagnosed with oligohydramnios (low amniotic fluid) due to his kidneys during the second and third trimester of my pregnancy with Holden. He was delivered emergency C-section at 36 weeks at our local hospital. We noticed right away that he was having a hard time sucking therefore he couldn’t eat, he also was very small only 4lbs 14oz. The doctors decided it was best that he be treated at a neonatal intensive care unit a few hours away. That was the hardest thing as a mother that I have ever had to do, watch helplessly as my precious newborn baby was rushed in an ambulance to another hospital so far away. He spent about 5 weeks in the nicu. They ran so many genetic tests on him and everything came back normal. While he was in the nicu we learned that he had hydronephrosis of the right kidney, his testicles were ascended, and he had mal rotation of his intestines, among other small issues such as hypertonia, hypotonia, low set nipples and ears, bilateral ear pits and a bicuspid aortic valve. Holden also had to have a g-tube insertion and surgery on his intestines due to the mal rotation.
He got to come home from the nicu when he was around 1 month old. We were set up with many specialists to see over the next year including cardiology, neurology, plastic surgery, neuro surgery, G.I, urology and genetics, hoping to find out what was causing Holden so many issues. When Holden was a couple months old we learned that he has a rare eye condition called CVI, he also has astigmatisms and is near sighted. Holden was also diagnosed with microcephaly and a neck condition concerning his c1 and c2 vertebrae. We got set up with our local CDSA agency and now have awesome therapists to work with. Holden receives P.T., O.T., vision and speech. When we saw our genetics team when Holden was just a few months old they set us up with a research program that offered whole exome sequencing. It took about 6 months but they gave us the answer we had been looking for, for almost 2 years, that Holden had a rare syndrome called KAT6A.
Holden has had 3 surgeries since birth, the mal rotation of his intestines, deflux of his right kidney, and had his testicles descended surgically. He will have one more surgery this year on his neck. He is going to have his c1 and c2 vertebrae fused to his skull because they did not form properly. We pray that will be his last.
Although Holden has been faced with so many challenges medically and physically he has accomplished so much. He was sitting at 16 months and beginning to eat pureed foods. Now that he is going on 3 years old he is crawling all over the place and chasing his brothers, and he is eating all kinds of pureed foods with texture added. We are so very proud of him! It is truly amazing to us what this sweet boy is capable of and we know as his family that the sky is the limit. He is the sweetest most loving child I have ever met. He loves his two older brothers and our dog. He loves bubble baths and funny noises. Holden just lights a room with his smile. We are very confident that he will walk and communicate with us through signs and/or verbally.