“Last month, I received a phone call that would forever touch my life. It was from a wonderful woman in Arizona named Betsy. She is a pediatric nurse for a sweet boy named Kole. She told me about his family’s plans to visit San Diego for their son’s Make-A-Wish trip. She wanted to find a photographer that would be the perfect fit to capture this special time for Kole’s family. She found my More Than a Diagnosis blog posts and the rest is history. It was an honor to meet this family and document this momentous trip for them.
I also have the privilege to share Kole’s story with you as a part of my More Than a Diagnosis series. Throughout my life, I have been blessed to know many amazing people that were given a special needs or terminal diagnosis. I do not believe that this was by accident. They have stories to tell, and I want to help them tell those stories. It is my goal to continue to capture beautiful portraits of those that were given a diagnosis and did not let it stop them from living happy and fulfilled lives. They are an inspiration. I want to use my platform of photography and social media to help them reach those that may need it the most.
I asked Kole’s mom, Kirsten, to tell us more about their lives. I asked her about when they received his diagnosis, challenges that they have faced, what life is like for Kole, and some of her favorite things about him. This is their story. Thank you Kirsten, for sharing it with us.
When did you find out about Kole’s diagnosis?
I got pregnant at 19 right after his dad and I got married. We went to our routine appointment with the OBGYN and they offered to do a blood test to see if there were any concerns and since it was covered my insurance, I said okay. I ended up getting a phone call that they were sending us to see a specialist because the numbers were high and there was a lot of amniotic fluid. That phone call changed everything. We ended up seeing the specialist every single week till he was delivered. Every single week we were told that his heart beat would not be there the following week and every week it was still beating. He did not move much so I never knew if he was still holding on or not. Every few times we would go in they would find something else that was “wrong” and be even more sure that he was not going to make it. They induced me at 36 weeks because he was not growing and the delivery was very traumatizing and complicated and he was born at 3 lbs 5 ounces and he stayed in the NICU for 2 months.
How did you find out? How did you feel when you found out?
We knew that something was going on ever since being sent to the specialist, but we had thought that his diagnosis was down syndrome the whole time. They offered to do amniocentesis but we opted out due to the risk of miscarriage and it wasn’t worth it to lose him. It wasn’t until he was actually born and had blood drawn that we were able to find out his actual diagnosis and more kept piling on as time went on. I remember sitting in the head doctor’s office when Kole was 3 days old, the geneticist was in there and he said that Kole has been diagnosed with Ring 13, Partial Trisomy 13, and Monosomy 13 and that he will probably not make it out of that hospital and if he does he will not make it through a common cold and if he is lucky enough to make it through that, he will likely not live past 10 years old. THAT is all I remember him saying because as a 20 year old girl hearing that about my child was extremely hard to hear. I completely shut down and stared at my hands and the words just ran through my head over and over as they continued speaking with other family members that were in the room and able to take notes for me. When I was told that he was blind I was in shock but more at the bluntness and shortness from the doctor that had told me. Once the anger of that settled it was difficult information to process but it was not the end of the world. It was more when I was also told that he was deaf that it hit more close to home. It suddenly made sense that the other 3 babies in his room would cry in their cubicles whenever it was loud and my little boy just slept right through it all. Barely moved an inch. He never startled. He was the quietest baby. And I never knew why. But, then I did. It was a mixture of emotions but I did feel thankful to have answers and be able to move forward with knowing what I needed to know and figuring out a different way to navigate how to communicate with him which we did through touch. He also got a cochlear implant on his right side that he hears through and he loves music.
What exactly is he diagnosed with and how does it affects his life?
- His main diagnosis are: Ring 13 (This is Kole’s dominant diagnosis, Rare chromosome disorder), Partial Trisomy 13 (Chromosome Disorder), Partial Monosomy 13 (Chromosome Disorder), Poland Syndrome (Birth Defect of underdevelopment with webbed fingers and absence of chest muscle on one side), Moebius syndrome (A rare neurological condition that affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth)
The ripple effects of these syndromes and disorders are:
- Absent Corpus Callosum (Middle part of the brain)
- Obstructive Sleep Apnea (Doesn’t breathe well while sleeping, us oxygen, change position)
- Obstructive Airway (Change position, sit up, use oxygen)
- Hypoventilation (Shallow breathing at an abnormally slow rate, resulting in an increased amount of carbon dioxide in the blood)
- Deaf (Use cochlear Implant while awake)
- Blind (Can see bright lights in his LEFT eye)
- Coloboma in both eyes (Effected the optic nerves, the macula is fine)
- Retina detached in right eye (Eye is shrinking and is a “sick” eye. Potential future prosthetic eye, use medications to keep it comforted)
- Imperforated Anus (No anus formed but a fistula formed right above where the anus would be and we dilate the fistula to keep him pooping through it)
- Deformed Left Hand (Part of the Poland Syndrome)
- No muscle or nipple on left side of chest (Part of the Poland Syndrome)
- Eczema (Dry Skin)
- Tache Cerebrale (Breaks out in rash under the skin and it goes away within minutes, not harmful, caused neurologically)
- Dermographism (Exaggerated welting when the skin his barely stroked, not harmful, goes away within minutes)
- Fusing of left elbow (It doesn’t turn in some directions so BE CAREFUL especially while changing his shirt)
- VERY LOW IMMUNE SYSTEM (Wash hands regularly and use sanitary precautions)
- Septo-optic Dysplasia (Underdevelopment of the optic nerve, pituitary glad dysfunction, absent septum pellucidum (part under the corpus callosum which he is missing as well)
- Low Cortisone Levels (Hormone released when the body is stressed. Production of cortisone by adrenal glands are too low because the pituitary gland is not sending proper signals)
- Irregular Circadian Rhythm (Non-24 Sleep/Wake Disorder) (A condition often experienced by those blind/visually impaired which caused them to be unable to follow the typical daytime/nighttime schedule of sleep often causing insomnia)
- Megameatus Hypospadias (Congenital defect, location for outlet of urine is on the undersurface of the penis rather than on the tip. CANNOT circumcise until this is surgically fixed)
- Kole is unable to walk and is nonverbal.
What would you tell someone that is just learning about their own child’s diagnosis?
It sounds harsh, but I just hope that people finding out diagnosis know that it is not the end of the world. Their child is unique. Their child is special. Their child will teach them things that they would never learn if it wasn’t for that child. I won’t lie, it’s a hard life. But, it is full of so much beauty that I never knew. I am not the same person that I was when I was 20 and I had to change and grow up real fast. And I wouldn’t change that for the world. There are people out there who get it. It felt so lonely at first and like no one would ever know what we are going through. But, as I branched out and learned that there are other deaf blind children and kids that are similar to Kole (NEVER THE SAME because they are all different in their own way) that I was not alone. There were resources and help. And if someone is offering to help, try your best to ACCEPT it. There is so much that I would say to someone just learning!!!
What does a typical day look like for Kole?
We get up (depending if we were up all night or not because he can’t tell day and night) but we stick to the routine ALWAYS! Get up, CPT Vest, morning meds and morning routine, go to school, come home from school and typically there are appointments and therapies squeezed in there somewhere, afternoon meds, do our own home routine of therapies, bath time, CPT Vest again, night time meds and night time routine, and then to bed! And Repeat!
What is your favorite thing about Kole?
That is a VERY hard question! If I had to narrow it down, it would be his squeezes (hugs) he gives the BEST hugs. It was my goal that I wanted him to know how to give hugs so I always did it and told him “squeeeezee” and he eventually caught on and they are the best! OR his belly laughing that he beyond contagious!”
He is truly a #mirakole
Portraits by Loni Brooke Photography, San Diego County Family Photographer. If you or someone you know would be a great candidate for a complimentary portrait session as part of the More Than a Diagnosis series, please email firstname.lastname@example.org.
Here are a few Behind the Scenes cell phone selfies from our special session on the beach! They even gave me a beautiful gift of one of their #MiraKole beach balls and “Kole’s Wish Krew” tee shirts that they had made for their trip, which I will forever cherish.