Camden’s journey began twenty-four weeks before taking his first breath of fresh air. After a long family move from Kentucky to Washington State, it was brought to our attention during an ultrasound that Camden had a congenital heart defect known as Tetralogy of Fallot. We knew that within months Camden would need to have open heart surgery to correct the defect. Our family had no idea that this would only be the tip of the iceberg for years to come.
Camden Rau was born on February 9, 2015 via emergency C-section at Madigan Army Medical Center. Immediately after birth, he was sent directly to the NICU. When I followed Camden’s medical entourage into the NICU, I noticed something very strange. Camden’s head was extremely tall and elongated while having a very obvious skeletal deformity from his forehead to the back of his head. It was determined that he had craniosynostosis, which is the premature fusing of the bones in the skull. With these two serious issues identified, the Geneticist told us there was a very good possibly Camden had a genetic disorder, but it was too early to tell which one based on symptoms alone. So we waited.
One month later, Camden had his first open heart surgery at Seattle Children’s Hospital. He had a very rough recovery and spent approximately five weeks in the Cardiac ICU. Once he recovered, doctors then began to focus on Camden’s other issues. With sights set on a very evasive skull surgery, doctors agreed that Camden needed a G-Tube to eat because he was failing to consume enough calories by mouth. They also determined he would need to have another heart surgery to close a hole before the craniosynostosis repair to reduce the risk of brain damage and stroke. At nine months old, Camden finally underwent a full craniosynostosis repair from ear to ear to fix the shape of his skull and allow his brain to grow appropriately. After the skull repair, Camden’s blood oxygen levels could not stabilize and he required oxygen until he was approximately eighteen months old. We continued to wait and search for answers.
After the surgery, our family moved once again to Cleveland, Ohio. Camden was almost two. He underwent two eye surgeries in Cleveland to fix his droopy left eyelid to prevent him from going blind. We are extremely grateful that we moved to Cleveland for that short time because that is where we were able to conduct our genetic testing. While waiting for the results, the Army relocated our family to San Antonio to receive more efficient health care for Camden. During the move from Cleveland to San Antonio, we found out that Camden had the KAT6A Genetic Disorder. Our search for the cause was over, but what were we supposed to do now? There was very little research and doctors told us very little because they didn’t know anything about it. It’s at that point we were able to connect on the KAT6A support group on Facebook to get some answers.
This was such a relief to finally understand what issue has caused our son to experience all of these conditions, surgeries, pain, and suffering. Finally! Some kind of proof to show doctors who made us feel like terrible parents by saying our son was failing to thrive, accusing us of not feeding him enough, and constantly bringing up the percentile chart for height and weight to emphasize we are not doing our job. It explains why our son has never spoken a word and why there is a good chance he never will. It explains why he has so many physical issues. It explains the cognitive delays. It explains the brain damage. It explains why he is so tiny. It explains the constipation. It explains the poor muscle tone. It explains everything.
Just because we have come to terms with reality and have some answers does not mean we have given up hope. Camden is the definition of resiliency; bouncing back from everything life has thrown his way. Every day we wake up thinking this might be the day he says a word, or the day he can finally eat a normal meal, or that he will somehow overcome a physical obstacle he’s been dealt.
Camden has been the biggest blessing in our lives, and he has touched the lives of so many without even saying a word. He teaches us to be patient, loving, and selfless. He lights up every room that he is in with his amazing smile, caring nature, and his personality. He loves his mom, dad, big brother, and dogs. He has to emulate everything his big brother does, and then some. He loves sports, balls, trucks, cars, hitting keys on the piano, and watching the whales and fish at Sea World. He walks on his own, but he requires ankle braces to stabilize. He loves to jump on trampolines. He utilizes speech therapy, physical therapy, and occupational therapy each week to help overcome his deficiencies. He does communicate vaguely by pointing and using basic sign language skills, and he eats strictly through a feeding tube.
Recently this past week, Camden was forced to undergo yet another open heart surgery to receive a Pulmonary Artery Valve replacement. This surgery was supposed to happen in his late teens or early twenties, but his right ventricle was four times the normal size and the valve was leaking forty percent of blood being pumped to his lungs. Unfortunately, this will not be his last open heart surgery. The valve replacement typically only lasts two to ten years, but we will always expect the worst and hope for the best. He also had to undergo another operation today because his surgical site was infected, but we are looking to leave the hospital within a week or two.
Thank you for taking the time to read about my son.
We are honored to be Camden’s parents and very proud of everything he has accomplished so far in such a short amount of time.
We are happy to be a part of the KAT6A family.
Respectfully,
Steven and Shelby Rau
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33 years ago I was about to give birth to my first child, who ended up being born on Memorial Day, 1985. I originally went into labor two days earlier, but a trip to the hospital with irregular contractions resulted in returning home “to wait” Two days later, still no regular contractions, almost two weeks overdue and exhausted, it was decided to induce. I thought at that time parenthood would be the easiest job I ever had. First mistaken notion.
“Warren” came out after a difficult delivery, very depressed. His first Apgar was a 6, but his second a 9. They rushed him off to the nursery and had the neonatologist follow his care. He was “floppy”, had a huge startle reflex, was very sensitive to touch, would nurse for a few minutes and then fall asleep, but after 3 days they released him as an “essentially healthy infant”. I thought everything was fine. Second mistaken notion.
He was a challenging baby. He never, ever slept more than two hours at a time. Never nursed well, we had to supplement after a week when he continued to lose weight after coming home. He had terrible reflux, would spit up through his nose; he was slow with motor development. The startle reflex continued. If I walked from a dark room to a lit one with him, his whole body reacted. Still, he was sweet natured (still is) and was gaining weight and at 3 months the doctor said he was doing great.
Then he had his first DPT shot. That night his fever hit 105. He laid on my chest for three days and hardly moved. At my pediatrician’s insistence he never received any part of the “pertussis” vaccine again (actually none of my children did). I don’t think the vaccine caused any of his disabilities – but maybe opened a door to let what was lurking there in a bit sooner, and more strongly. This is just my opinion, and most professionals will tell me I’m crazy, but they weren’t there.
When Warren wasn’t walking by 18 months, and barely crawling, we started our first round of visits to Children’s Hospitals. There I was told – and I swear to God this is the truth – “You definitely want to go through genetics because you wouldn’t want to produce another one like this” and at the next visit – “don’t fret, I have parents of gifted and talented children who don’t know how to raise them either”. Third mistaken notion – the experts know best.
We received the diagnosis of “developmental delay” – Fourth mistaken notion – that delay meant late, but just like an airplane it would get where it needs to go eventually. I did not know it was a euphemism for “we don’t know what is wrong with the child, but things don’t look good, and might never”.
Years go by – we run all the tests, nothing comes back with a reason for the “delay”. We end up with a diagnosis of autism at age three and the pronouncement by many experts that this would never happen again….and so my daughter was born. She was the complete opposite of her brother, walked at 9 months, had words at a year (Warren has never spoken one word to this day). All the doctors and friends assured me she would be fine. And so her two brothers followed. And then she started getting “weird” – perseverating on objects and actions, single words never turned into sentences. At age 4 she also joined the ranks of special education. Side bar here – Emily has been diagnosed with what is very clearly autism – and manifests some bipolar tendencies, but does not have KAT6A – which surprised the doctors. Her brothers are neurotypical and doing well.
Warren learned to walk, for awhile he was successful with limited sign language, but his fine motor skills have always been very poor. I was the only one who understood his signs and they were limited. After two years on baby food he started eating solid food, but to this day, refuses anything highly textured. His weight, even now, is a concern. At 5’8” he has never been heavier than 158, and now is 143 pounds.
Over the years there have been a number of medical problems – he developed aerophaghia – air swallowing. There is no treatment and it can be fatal. But thanks to some wonderful therapists and doctors we got this under control. His motor skills led to a diagnosis of mild CP. He never outgrew his strabismus. But he enjoyed school, became somewhat independent, but the combination of his disabilities meant he could never master his personal care skills independently. He still has toileting accidents occasionally, needs to be fed, dressed, bathed, but he does cooperate and assist with all of these, and he is ambulatory. On the surface, judging by his skills, Warren would seem to be very cognitively impaired. But there have been some things he has demonstrated that clearly indicates his understanding of things is far higher than appears.
And then at age 9 the seizures started. Nothing helped. They were called partial complex seizures and he did not convulse, but it was more than just the staring of absence seizures. Eventually, a brave neurologist tried a new medication that had just been approved in the US, but had been used in Britain for awhile – Lamictal. That, with Topomax, stopped the seizures for several years. But, they did come back, and this time as grand mal seizures. We have tried every combination of medications, and we went through periods of calm, only to have them come back in clusters. Last fall he had a Vagus Nerve Implant, which was a very difficult adjustment, but now seems to be helping. One seizure since January.
We raised all our children at home – under circumstances at times that were harder than anything you can imagine. My daughter’s autism manifested itself with aggression and violence at times, but with the help of incredible staff, and wrap around services, our family stayed in tact.
I had wanted Exome testing done since the first time I heard about it. I wanted to know why this happened to us, and was sure there would be a diagnosis that applied to both Warren and Emily. However, my insurance would not cover it and it was impossible for us to afford. I had applied for the Autism Speaks credit card and charged everything I could so that they would receive 5%. One day I received a phone call that they were sponsoring an Exome study at NIH (around the corner from me) and we would be able to get the Exome testing for free – was I interested? Of course I was. Sign us up! And then they said, if Emily and Warren could not give “informed consent” then they were not candidates.
Mistaken notion 5 – I thought we were all in this together. Bless my dear friend who works for a genetics company who was able to arrange for our family to have the sequencing done for what the insurance would cover. When the results showed that Warren had KAT6A, but Emily did not, it was a blow. Things were just getting rolling with KAT6A and Warren was, and I think still is, the oldest person diagnosed. Many became interested and asked to use him in studies and publications and we readily agreed. Here was one answer as to why this happened, and it wasn’t hereditary, and it wasn’t caused by something I did. All good news.
Over the years I can’t begin to tell you the things my husband and I tried to “find the cure” – some ridiculous, most expensive, all bringing marginal change. Warren to this day is a lovely young man who loves music, movies and pretty girls, but he requires a lot of help. I was warned that other KAT6A families might seek me out to know what the future of their young children would hold. I know what it is like to think that if you keep trying, one day you will find the answer to what will help your child. I have been fearful that if I revealed the extent of Warren’s limitations it would not be welcome information to these families. I have purposely stayed in the background.
But that doesn’t mean I’ve turned my back on things. I confounded a nationwide organization called KEEN (Kids Enjoy Exercise Now) that provides free recreational opportunities to children with severe disabilities. I have served on Boards and Commissions serving the disability community at my county and state level for 20 years. I initiated and chair a Developmental Disability Advisory Committee. My work at this point is devoted to improving the quality of life for the developmentally disabled.
Three years ago Warren and his sister moved into residential settings. They live in side-by-side townhouses ten minutes from our house. They have roommates and round the clock staff. They work and play in their community and we see them every weekend. It is a pretty good life for them, and at age 63 and 71, a blessing for my husband and me to know they will be cared for when we are gone.
But three years ago Warren had a bad fall, broke his femur, and after two months of recovery, had a seizure and another fracture. Now it seems this might be related to the KAT6A – but it also could be the epilepsy drugs he has been on so long. Who knows, but once again, we are trying to see if there is something else we need to do to help him. Thus, this blog, and emails to Dr. Kelley.
When I was asked to write this, I asked what should I write about – I was told tell us about birth on. I know I have given you more than you ever wanted to know, but once I started, I couldn’t stop. I wish you all the happiest of Mother’s Days. Your children are very lucky to have you.
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My name is Peter. I was born with a rare disease called KAT6A.
The faculty of remembering is renewed every year. You erase many huge geographic references. You react recklessly because you realize that the real reason you forget is a gene mutation. The huge trigger of the stimming is equalizing the tune of the earth.
The goal to reach is usually too hard but can be reached.
You get to know the hidden places in the Universe.
Reading transforms the human brain. It makes you understand real cues from general notable facts. The technique to use is really easy. The reason we read is to forget the horrible sadness in this world. The journey I truly resist is the great residential placement. I can reach all my goals and dreams hopefully. I want to really grow with the resilience of my parents. You use all your strength to achieve the impossible.
I can’t talk. But I can hear everything…I like to sing, but the words are harsh to say. I try really hard and I’ll keep on trying. I like to swim, I swim every day during summer. I dream of trying to swim for an important swim team. I swim laps with my mother and brother, Paul.
The true treasure in life is realizing that the reason of growing is to become wiser and more humble. My message to the children with disabilities is to use all your true abilities to excel in this world.
Peter’s literature work won the Award of Merit in NYS. The theme was “Within Reach.”
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Sam inspired me to send you a description of his typical morning, in what I imagine would be his own words. I would call it…
MORNING AT MY HOUSE, BY SAM WOODBURY
Here he comes again, this time at an hour past midnight — Dad-with-flashlight. I coughed and the monitor picked it up. That woke him and alarmed him. In the darkness he just bounced off the corner of a table in my room and now he peers at my face. I pretend to be asleep. He stares at me for a second or two longer and then, satisfied, he turns to leave. He turns off the flashlight and trips on the chair at the foot of my bed, grunts, and then he’s gone.
Now it’s 4:30 a.m. and I’m wide awake. A couple of hours to kill before they usually wake up. Let’s see whether I can knock the TV over with a flying pillow — nope. I guess I’ll sit up and slam the Venetian blind against the window frame over my bed. I like the rhythmic Whack! — Whack! — Whack! as it slams back against the window.
Oooh, Mom has her morning face on! She shuffles in and mumbles something about 5:00 a.m. They think I don’t understand time. I understand that it’s never a good time for things I do that make a lot of noise or cause an unexpected load of laundry.
Well, now I’m on the toilet, my walker before me to keep me steady. They — that Mom-and-Dad pair — had a good idea a while back. I need time on the toilet to get my system moving, lots of time. (Do I understand time or don’t I?) But I used to get bored, and then I’d twirl my walker like a dance partner and dent the wall, or I’d twirl the roll of paper and make an impressive pile of softness on the floor. So that Mom-and-Dad pair bought a TV and mounted it on the wall in front of my toilet. Since it arrived, I get to watch Shaun the Sheep, Masha and the Bear, and other stuff they think I’ll like. I can’t speak words, so I can’t ask for SpongeBob directly. At least the TV relieves the boredom of the toilet.
Dad’s turn now in the morning routine. In greeting, he squeezes the top of my head with a large hand. I like that. I try to hug him but he makes me wait until I’m off the toilet. Once I’m up and partly dressed he squeezes me hard and I hug him harder. Then we’re off to deposit me in my recliner chair next to my bed.
I have this secret wish that they’ll both forget the toothbrush today. Mom forgets a lot but Dad usually remembers. Here it comes…! Aaaghhh — kewww — gaaaack!! Mow my mouff if full off faliva and I can’t fwallow!
Well, I do fwallow a trickle of it after a while but I hate it. What is that for, anyway? Next comes breakfast — hooray! I pull up my shirt to expose my G-tube. It’s always the same old gooey slurry that gets poured into the tube, with glops of additives, then portions of what they call “meds” followed by slops of water — (will these people ever come fully awake?) — and now I can relax and watch excruciatingly boring ads for Nutri-System and Humana on the big TV across from my chair.
Mom is sitting at the table in my room now, scribbling in her book — a big binder. She snaps it open and closed, open and closed. She scrawls in tiny boxes on lots of pages. I judge my timing and then I sneeze, just to jump her, and I spray my mouthful of foamy saliva. I can tell she’s impressed by the speed of her response, and I grin inwardly as she goes into action to save the folded clothes in the laundry basket in front of me.
Dad comes back with his plate of toast, meets my high-five, and sits on my unmade bed. I high-five at him again and again so he can’t eat. He calls me Buster Keaton. I know my name; it’s Sam. Maybe “Buster Keaton” means “I forgot your name.”
After toast he walks me to my shower. When Dad does the shower he sings his two favorite songs: Old Man River and Ghost Riders in the Sky. He also likes Cool Water and The Windmills of Your Mind. That last one really describes my mind, but I can’t tell him, so I try to hug him. He doesn’t want a wet hug. I guess these are also my favorite songs, because no one ever sings me any other ones. But you’d think he’d learn something else.
Usually it’s Mom who does the next set of rituals. She sprays my armpits with Holy Odor, makes precise designs in my hair with incantations, and then smears gel on my face and scrapes it off. I don’t know what this all does for them, from the tooth brushing to the face routine, but they can’t live without it. (The feeding I understand because it feels good to me. The rest makes them happy, so I don’t resist. It’s loving, and I get a lot of attention, and I get to slap the water in the sink while mom drives her toy snowmobile or whatever it is around on my face.) Finally someone pulls clothes over me and I can sit down again. Let the day begin!
Written by David
MY WORLD BY SAM
After my morning rituals, Adria comes in the daytime and hangs out with me. I realize it’s her job, so I try to brighten her day. We go places together, but almost every day she stays home with me for a while and makes me work, work, work. Adria makes me walk a lot. Walking frightens me, and I say so; that is, I groan my loudest when I’m supposed to be walking. She puts a “weight vest” on me and then walks me in circles in my room. I hold onto my walker, wearing that eight-pound vest, and shuffle slowly in a circle. I think: “Does this entertain you? How about you wear this vest and march around for me?”
A couple of times, when I’ve been on my feet, the floor has suddenly come up from behind and smacked me in the back. I have broken my ribs and had a lot of bruises. Since that happened, Adria or Mom or Dad walks behind me with a hand on my back. Dad says: “Go ahead, try to fall. I won’t let you fall.” They have all caught me at one time or another, so I know I’m safe. If someone isn’t right behind me when I’m standing, I just kneel at my walker, then sit and wait.
I fall because I’m a “Jumping Frenchman of Maine.” You can look that one up. My mom’s French Canadian grandmother ran sporting camps in Greenville, Maine. That’s where “jumping Frenchman” syndrome apparently originated. It is related to hyperekplexia, but don’t ask me to spell that. Either way, it’s an exaggerated startle reflex. Surprise one of my senses with a sudden change and I jump out of my skin, as my mom says. All it takes is a flash of light, a sudden movement off to my side, a ‘pop’ sound from another room, or an unexpected touch, and I throw out my arms and legs. Gravity decides what happens next. It is no fun.
About this walking thing. When people come up to me on their own two feet, I think: How do they do that? I could use about four more legs — or maybe not — where would I put them all when I’m in the car, or in bed? How would I put on my pants?
Adria also takes me all over the place in her Ram 2500 monster truck. I can step up into her pickup, or Dad’s truck too, by myself if I can hold onto someone’s shoulder so I won’t fall. Then Adria and I go to my meeting or to my job. On Mondays there is a SUFU meeting — Speaking Up For Us. Since I can’t speak, the president sometimes passes me the gavel so I can pound the table.
I take my job seriously. Two days a week I ‘m the Social Director at Meals-for-Me at lunchtime. Since I’m 100% tube-fed on a liquid diet, nobody is worried that I’ll eat all the cookies or take the last piece of meatloaf. My job is to sit beside one of the old ladies, a different one each time, (they take turns), and hold her hand. They tell me I’m handsome and give me hugs. Old ladies are fluffy, and so I like their hugs.
I have a friend, Curtis, who lives in town — a tall, happy fellow, and Adria sometimes takes me there. I usually see Penny when I’m there, Cleo too, and he has other friends who gather at his place, too. Some days we go to McDonald’s for lunch, or to the town beach for a picnic in the summertime. I am lucky to live in Lincoln, Maine, a small town where almost everyone knows me and is my friend.
When I’m outdoors walking, or in a big store like Walmart or Marden’s, I usually enjoy myself and “hoot it up” as people say. They can try to shush me, but I can’t curb my enthusiasm. Our town is built on the shore of a lake, and there is a park beside the lake, with a playground and a beach. When we go there, or to a basketball game or a track meet, I can hoot a lot and no one cares. That is great!
When I come home after a long day of walking and hooting and hugging, I just like to curl up in my big recliner chair and see what’s going on in the house.
I have been part of a family for as long as I can remember. Same Mom and Dad. Sisters who have always been around, although I see them less often since they grew up. Other people come for a time and then leave. I miss them. Before Adria, there was Tonya, for instance. When I see someone after a long time, who used to be part of my world, I get excited. I give them good hugs.
I’m still surrounded by sisters, though. At least four of them. They’re definitely adults now. Most of them used to be older than I am, but I’m 27 now and maybe I’m catching up. I don’t know how long it takes to become an adult, but I’m waiting to see. Then again, maybe only some people get to be adults and maybe some of us have a different role to play.
I’m also surrounded by nieces — and one lone nephew, Carter. Just when I think I know everyone in the family, one of my sisters brings in a new baby. They don’t stay babies for long, though. Some of those babies can already walk and, wow, can they talk! Maybe that’s a girl thing. I don’t walk well and I don’t talk yet either. Maybe that’s a guy thing. How do I ask Dad or Carter about that? Dad’s clumsy so maybe he’s still learning to walk, and he doesn’t talk much, but he can when he has to.
My family’s house is always busy. Besides Adria and my sisters and nieces coming and going, there’s my grandfather who lives here, and there are dogs. There used to be two little pugs. Then one dog went to be cremated and I haven’t seen him since. (If they ever offer me a trip to be cremated, I think I’ll turn it down.) After that, there was one little black pug, who has a hard time moving and who coughs all the time. Then, this spring, a new black dog suddenly joined the family. About two months ago she was the size of the old pug. Now she is as big as one of the deer in our back yard.
And that’s the story about the inhabitants of my world. It’s a great bunch of friends and a big, happy family.
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Ruby has been on my mind a lot lately. I mean, she’s always climbing on top of me, standing on my feet, yelling and crying, so it’s hard to NOT have her on my mind. It’s her diagnosis and everything that we’ve been through, the emotions, and the ability to keep my head out of the water through it all.
When it was first suggested to me that Ruby might have a chromosomal abnormality, I looked at her differently. Suddenly I could see her ears in just the wrong position, her eyes spaced just a little off, her nose just barely broader than normal. It clicked so suddenly that I was sure that genetics was where we’d find the answer. As she continued to grow physically, but not developmentally, I was even more sure that genetics was it.
One of the most frustrating things that I have experienced in this journey is doubt from outside sources. I knew that Ruby wasn’t a typical child. Not only did I have 3 other kids that I had experience raising to compare her to, but I lived with her and knew that she did things different. Not just different in the sense that all kids are different from each other and develop differently from each other, but Ruby was significantly unusual. When I would open up about my fears to people, they would tell me not to worry, because so-and-so’s child didn’t talk until this age, or this other so-an-so’s child didn’t walk until this age…”I’m sure she’s just fine, those doctors never know what they’re talking about.” This was a common occurrence for a while. I completely understand other parents trying to encourage, but when you actually live with a special needs child and see all of their deficiencies and experience their struggles, have seen a multitude of professionals that second the opinion, and then have someone outside of the situation tell you that everything you’re feeling is wrong… That’s not ok.
The first genetics testing that was performed came back normal. My first feeling was relief. My second and more profound feeling was angry despair. I knew there was something. Our geneticist did too thankfully, and pushed forward for the next test. We expected to go through the holidays (Thanksgiving, Christmas and New Years) without hearing anything, so when the phone rang in the middle of December, I was shocked and unprepared. He told me Ruby had a mutation in the KAT6A protein. We scheduled a time 2 days later to meet and discuss everything, but he asked if I had any questions in the meantime. I answered no, because I wanted to brainstorm questions with Daddypants to make sure we get everything covered. I then hung the phone up and asked Dr. Google.
Everyone knows that you should never consult Dr. Google. I once asked him about Ruby’s symptoms before we had any answers and I immediately regretted it. This time we had a specific diagnosis to look up, and I found that there was (and still is) very little literature regarding KAT6A. One information page that I found was hard for my heart to read. Almost every piece of information that was listed described Ruby. The hardest part was the fact that most KAT6A individuals struggle with sleep. The reason this was a struggle was because of the nearly 3 years of little sleep Ruby and I had experienced together. More so, the frustration that I had felt and the times that I was so angry I felt useless. The days that I felt resentment because I was so exhausted. Feeling resentment toward a child is a very guilt-riddled feeling. But learning that her sleep problems are due to her genetic makeup, something that she has absolutely no control over, and knowing the behavior I had had, broke my heart. I sobbed as I read it.
I also saw that oral motor deficiencies are common, as well as speech problems that include nonverbal individuals. Ruby doesn’t speak. We don’t know if she ever will. I know I’ve said it before, and I’ll say it again, but having a child that you love with your whole being, and knowing that they may never say “mama” or “I love you” is a really hard pill to swallow.
Today has been an emotionally challenging day for me. Tomorrow is my sweet girl’s birthday. I have 3 friends who all had babies within 10 days of Ruby’s birth, and the differences become distinctly more significant each year between them and her, which is often hard.
Tomorrow after breakfast I’ll get her dressed and take her to school for the very first time. She’ll be in a class that is a mixture of typical kiddos and those with special needs. I’m anxious to leave her in someone else’s care, but I’m also excited for the break. Almost 3 hours that I can clean, run errands, bond with Murphy, make uninterrupted phone calls! Ruby has spent much of her time today yelling and crying. She’ll be playing happily one minute and then suddenly just yelling because she’s unhappy about something, but I don’t know what, and she doesn’t know how to tell me. I feel so much frustration because my ears are ringing from all the yelling, and so much sadness because I don’t know what she needs, and so much guilt because I put Murphy down so often to try to tend to Ruby. Murphy is the happiest baby ever and mostly doesn’t mind, but it doesn’t stop the feelings of guilt from rolling in. It’s so challenging when I need to make phone calls but I know that Ruby will not be happy once I’m on the phone.
Most days I feel motivated and passionate and ready to take on KAT6A and prove that Ruby is awesome and able to prevail! Other days, like today, I have to remind myself that it’s ok to feel sad and have a little despair and anger. It’s ok to feel like I’m not good enough or not doing a good job, because deep down I know it’s a lie and that I’m a damn good mom to Ruby and all of her siblings.
I also have to remind myself that it’s definitely ok to brew a second pot of coffee for the 10th day in a row. Here’s to cup number 5 for the day (or is it 6?)!
By Emily Hoffines
You can read more by Emily on her personal blog. Emilyhoffhines.wordpress.com
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On March 1, 2018, Dr. Francis Collins, the Director of the National Institutes of Health (NIH) dedicated his blog posting to Dr. Valerie Arboleda’s research on KAT6A. This blog post provides great visibility for our community and the KAT6A Foundation, and is a very good summary of her research plan.
I also wanted to recognize and thank all of the families who supported the Children’s National Race For Every Child over the past several years. It was funds you raised for those events that supported her initial research. This research provided the early findings that helped her win the NIH grant that will help sustain this research going forward. So congratulations to all of you for helping further KAT6A research. And thank you for your continued support of our new KAT6A Foundation as we continue to raise funds to support future research.
-Jordan Muller
Chairperson of the KAT6A Foundation
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There are moments in life when you have to find yourself and you also find others. Being a teacher helps to make young people find themselves and others. With our project “Eleanor KAT6A: When Dreams Learn to Fly” we have discovered talents, awakened empathy and found common ground that connects together: family, friends, acquaintances and school community. It shows wonderfully what it means to be strong together, for others and ultimately for yourself as well. We’re taking part in the Strong School Award and I can only say one thing and proudly: You have this project in so many different ways carried along and helped, that dreams fly and become reality.
THANK YOU!
Your Monika Mammal
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Pol nació por cesárea en diciembre de 2008 en Tremp, un pueblo del prepirineo catalán de la provincia de Lleida (España). Solamente nacer los médicos se dieron cuenta de que alguna cosa no iba bien, tenía alguna malformación y no tenía el instinto de succión que tienen los bebes al nacer, y a consecuencia no comía debidamente.
A las 24 horas de nacer se lo llevaron a la UCI del hospital Arnau de Vilanova de Lleida. Allí estuvo 6 días mientras se le hacía todo tipo de pruebas, también genéticas. Pol tiene unos rasgos característicos que son los que pusieron en alerta a los médicos; los ojitos separados, sus orejitas son distintas una de la otra, la lengua es grande,…
En el hospital descartaron algunos síndromes sin encontrar nada, así que nos fuimos a casa pensando que el problema era todo físico.
Pasaban los días y veíamos que el Pol no se comportaba igual que los niños de su mismo tiempo, y en sus revisiones pediátricas nos dimos cuenta que su cabeza era pequeña y le crecía muy despacio. En un principio se creyó que su cráneo se cerraba demasiado rápido y no dejaba que su cerebro creciera con normalidad, pero no era así, sino que era el cerebro que no crecía y por eso el cráneo se cerraba tan rápido.
A partir de entonces empezamos las visitas a neurología, sin pensar que el problema de Pol iba más allá.-“este niño necesitará mucha estimulación para tirar adelante”- nos decían, y nosotros pues…a estimularlo a tope…
Pero un buen día, un médico nos dijo –“¿vosotros sois conscientes que vuestro hijo será siempre un niño especial?”- supongo que lo sabíamos pero no lo quisimos creer hasta aquel momento.
…síndrome polimalformativo, retraso psicomotor, microcefalia, protusión lingual, disfagia esporádica, hipotonía general, y un largo etc…fueron las palabras que empezamos a oír a partir de entonces.
…eco cerebral, ecocardio, RM craneal, RNM cerebral, tránsitos digestivos, potenciales evocados, cariotipo, estudio de cromosomas, estudio metabólico, y otro largo etc…pero sin ningún diagnóstico.
Los primeros años de Pol fueron muy duros; primero por tener que aceptar lo que estaba pasando y procurar, como madre, no sentirte culpable pensando si había hecho alguna cosa que hubiera perjudicado a Pol mientras estaba en mi barriga; y después por las muchas visitas a hospitales, médicos públicos y privados, pruebas, terapias,… y sobre todo por las operaciones…
A los 3 meses lo operaron de hernias inguinales, todo fue bien.
A los 2 años, fimosis e hipospadia, todo salió bien, también.
A los 4 años, hernia hiatal; Pol siempre tuvo problemas de reflujo gastroesofágico y esto le provocaba acidez y a su vez vómitos que les llaman “poso de café” debido a su color. Resulta ser sangre digerida que tiene en el estómago por culpa de unas pequeñas llagas, y cuando sale esta sangre en el vómito lo hace en el color del café.
Después de algunas pruebas y unos días de ingreso se nos dijo que cuando Pol pesara 10kg; algo que costó un tiempo porque a Pol siempre le ha costado mucho ganar peso; le operarían.
La operación fue bien, le hicieron un NISSEN, que resulta ser una especie de “nudo de corbata” que hacen en la boca del estómago. Nos advirtieron que si este “nudo” no conseguían hacerlo bien preciso cerrarían el estómago más de la cuenta y Pol no podría volver a comer normalmente, y le pondrían un botón gástrico; así que cruzamos los dedos para que todo saliera bien y así fue. Ahora Pol come normal, pero le ha quedado una secuela, no puede vomitar y en algunos momentos les es desagradable, por suerte ya lo tenemos controlado.
A los 6 años, operación de corazón; “tabique interauricular con defecto amplio de 11mm”, es decir que tenía dos cavidades del corazón conectadas y el corazón le crecía más de un lado que del otro y se le tuvo que poner un parche para cerrar el agujero que las unia. Primero lo probaron por cateterismo pero no pudo ser, el agujero era demasiado grande y el parche no aguantaba; así que se lo acabaron haciendo con cirugía. La operación salió bien, pero la recuperación fue muy dura para él.
Otras cosas destacables de la evolución de Pol:
. Comió triturado hasta pasados los 3 años.
. Lengua con poca movilidad y siempre fuera de la boca.
. Babeo abundante.
.No fijó la vista y manipulaba los objetos con las dos manos por separado hasta los 4 años.
. Trastornos del sueño, que aún hoy estamos tratando.
. Problemas de caries en los dientes y está a la espera para sacarle los 4 dientes de leche delanteros de la parte de arriba para que puedan salir los definitivos.
. Le costó mucho voltear (hacer la croqueta)
. Sedestación a los 24 meses aproximadamente.
No gateó nunca y empezó a andar con soporte a los 5 años y a los 6 años empezó a andar solo. Ha hecho y hace diferentes terapias, en su caso todo suma, cualquier estimulo es bueno y ayuda a su evolución.
Pol estuvo utilizando bipedestador durante un largo tiempo, tenía peligro de luxación de cadera debido a no ponerse de pie, los huesos de su cadera no encajaban debidamente. Lleva férulas para andar porque la posición de los pies no es del todo correcta y también le dan más estabilidad.
Va a una escuela “norma” inclusiva. Siempre hemos pensado que mucha parte de su buena evolución ha sido por compartir muchos momentos con los compañeros de su escuela, y siempre ha tenido el soporte que ha necesitado.
Le gustan mucho los sonidos y las texturas, poner cosas dentro de un recipiente y moverlo es su juego preferido, o jugar con una montaña de hojas secas.
Seguro que hay un montón de cosas que explicar de Pol, pero para nosotros, sus padres, lo más importante de todo es que él es un niño muy querido por todos lo que lo conocen, es muy cariñoso y muy feliz, y lo mejor es que esto lo ha conseguido sin tener que hacer ninguna terapia ni tratamiento.
Muchas gracias por dedicar este ratito a leer la historia de nuestro hijo.
-Marco
English Translation:
POL MONSÓ PARRAMON
Pol was born by caesarean section in December 2008 in Tremp, a town in the Catalan pre-Pyrenees in the province of Lleida (Spain). Just being born, the doctors realized that something was not going well. He had some malformation and did not have the instinct of suction that babies have at birth, and a consequently did not eat properly. He was taken to the ICU of a hospital in Lleida 24 hours after birth. There he spent 6 days while he was done all kind of medical tests, also genetic tests.
Pol had some characteristics features that draw attention to doctors; his eyes were too separated, his ears where different from each other, his tongue was bigger than normal…
In the hospital the doctors discarded some syndromes but didn’t find out anything about what was going wrong with Pol.
So we went back home thinking that his problem was a physical issue.
The days went by and we noticed that Pol did not behave like children of his age, and in his paediatric check-up we realized that his head was smaller and was growing very slowly.
At first, it was believed that his skull was closing too fast and did not allow his brain to grow normally. But, actually it was the brain what did not grow enough and that’s why the skull closed so fast.
From then on, we began visit to neurologist, without thinking that Pol’s problem went further –“this child will need a lot of stimulation to move forward”- they told us, and we….to stimulate him in to the fullest…
But one day, a doctor told us –“Are you aware that your child will always be a special child?”- I guess we knew it but we did not want to believe it until then.
…polimalformative syndrome, psychomotor retardation, microcephaly, lingual protrusion, sporadic dysphagia, general hypotonia, and a long etc….were the words we began to hear thereafter.
…cerebral echo, echocardiography, cranial MRI, digestive transits, evoked potentials, karyotype, chromosome study, metabolic study, and other long etc… but without any diagnosis.
Pol’s first years were very hard. First, we have to accept what was happening and try, as a mother, not to feel guilty thinking if I had done something that would have hurt Pol while. He was in my belly; and then for the therapies… and above all for the surgery.
When he has 3 months he underwent inguinal hernias, and everything was fine.
At his 2 years old, phimosis and hypospadias, everything went well, too.
At his 4 years old, hiatal hernia; Pol always had problems of gastroesophageal reflux and this caused him acidity and in turn vomiting that they call “coffee grounds” due to its colour. Its turns out to be digested blood that has in the stomach because of some small sores, and when it comes out this blood in the vomit does it the colour of coffee.
After some medical test and a few days in hospital we were told that when Pol weighed 10kg, they would operate him. That was something that took time because Pol always had a hard time gaining weight; they would operate him.
The operation went well, they did a NISSEN surgery which is kind of “tie knot” that they make in the pit of the stomach. They warned us about if this “knot” wasn’t done quite well he stomach would be more closed than necessary and Pol would not be able to eat normally never again, and they would have to put a gastric button on it. So we crossed our fingers so everything went well and that’s the way it went. Now Pol eats normal, but he has a sequel left, he cannot vomit and sometime it is unpleasant for him. Luckily, we have it under control.
Al 6 years old, a heart operation; “interatrial septum with 11mm wide defect”, that is, it had two heart cavities connected and the heart grew more on one side than on the other, so a patch had to be placed to close the hole that united the cavities. First, they tried it by catheterization but the hole was too big and the patch could not stand; so they ended up doing it by surgerying. The operation went well, but the recovery was very hard for him.
Other remarkable things about Pol’s evolution:
. He had ate crushed food for over 3 years old.
. Little mobility of the tongue and always outside the mouth.
. Lot of drooling.
. He didn’t focus his sight not manipulate objects with both hands separately until he was 4 years old.
. Sleep disorder, which we are still dealing with today.
. Cavity problems in his teeth and he is waiting to his 4 frontal superior milk teeth be removed in order to let the definitive teeth go out.
. Rolling over himself was very difficult for him.
. He was able to keep sitted when he was 24 month old.
. He never crawled. He began to walk with support at 5 years old. One year later he was able to walk alone.
. He has done different therapies, in his case everything add up, any stimulus are good and help his evolution.
Pol had being using the standing frame for a long time. He had a risk of hip dislocation due to not standing up, the bones of his hip did not fit properly. Wears splints to walk because the positions of the feet is not entirely correct and also gives more stability.
He goes to an inclusive “normal” school. We have always thought that a lot of his good evolution was thanks to share many moments with his schoolmates, and he always has the support he needed from them.
He likes sounds and textures a lot, putting things in a container and shake it is his favourite game, or playing with mountain of dry leaves.
Sure there are a lot of things that we can explain about Pol, but for us, his parents, the most important thing above all is that he is a very beloved child for all that know him. He is very affectionate and very happy, and the best thing is that this is not consequence of any therapy or treatment.
Thanks you for taking your time to read our son’s story.
-By the Monsó Paragon Family
Este domingo hemos hecho un paso más en dar a conocer KAT6A, corriendo la ZURICH MARATÓN BARCELONA junto con unos grandes amigos, los TREMP RUNNERS y Pol, el protagonista, aquí teneis un resumen en imágenes. Nos hemos divertido muchísimo.
On March 11,2018 we have made one more step in making known KAT6A, running the Zurich Marathon Barcelona along with some great friends, the Tremp Runners and Pol, the protagonist, here you have a summary in images. We had a lot of fun.
On February 3, 2018, the first KAT6A clinic was held in Baltimore, Maryland, at the Kennedy Krieger Institute. Nineteen families attended and several more followed the clinic by livestream.
We were pleased to have in attendance and as speakers Jacqueline Harris, M.D., Ph.D., Pediatric Neurologist from the Kennedy Krieger Institute in Baltimore, Hans Thomas Bjornsson, M.D., Ph.D., Director of Epigenetic and Chromatin Clinic and Assistant Professor of Pediatrics at Johns Hopkins Hospital in Baltimore, Jill Fahrner, M.D., Ph.D., Assistant Residency Program Director at Johns Hopkins Genetic Medicine Residency Program and Assistant Professor of Pediatrics at Johns Hopkins Hospital in Baltimore, and Richard Kelley, M.D., Ph.D., former Director of Division of Metabolism at Kennedy Krieger Institute in Baltimore and current researcher at the Division of Genetics and Boston Children’s Hospital.
After a welcome by KAT6A Communications Director Brittany Green, Dr. Jacqueline Harris presented an overview of the KAT6A clinical syndrome. She explained that KAT6A is a histone modifier epigenetic disorder. This means that the gene function is changed, not the gene sequence, and it is influenced by the histone machinery. It is most often de novo, which means that the genetic change happens in the child and is not inherited from either parent. She reported that there are only a few documented cases, so not much is known about KAT6A syndrome. Researchers need more cases to study. However, there seem to be some features that are nearly universal and some features that seem to be related. Some of the universal features include hypotonia, feeding problems, congenital heart disease, eye or vision problems, skull abnormalities, distinctive facial features, and global developmental delay. Less common but probably associated features are small birth size, perinatal complications, seizures, specific behavioral features, sleep disturbances, immune system irregularities, dental abnormalities, hand abnormalities, and brain MRI abnormalities. She concluded by stating that current researchers learn most from the patients and their families and by drawing from information from other similar epigenetic syndromes.
Next, Dr. Kelley spoke about mitochondrial dysfunction in KAT6A. KAT6A affects metabolic protein absorption, and children with this disorder often have abnormal levels of certain plasma amino acids. Some that he mentioned were citrate, asparagine, and phenylalanine. Using common lab standards, amino acid levels often seem within normal range but a doctor who specializes in mitochondrial disorders uses a conversion scale to determine whether there is a mitochondrial disorder. Dr. Kelley has been working with several families to analyze plasma amino acid levels and then recommending parts or all of a mitochondrial cocktail that he has developed as treatment. Carnitine has been shown to potentiate chromatin opening, and Vitamin B5 helps the body break down carnitine, so these are often helpful to children with KAT6A. Several parents have documented developmental progress in their children who are taking carnitine and vitamin B5. Dr. Kelley is quite confident that carnitine is very beneficial to individuals with KAT6A.
Dr. Bjornsson was the last speaker and he spoke about mendelian disorders of the epigenetic machinery and therapeutic possibilities. He has been studying a disorder very similar to KAT6A called Kabuki Syndrome. They are both epigenetic disorders of the histone machinery. Dr. Bjornsson is studying a mouse model of Kabuki syndrome and has been able to gain much needed information, including some effects that can be reversed using drugs targeting the epigenetic machinery. He also feels that carnitine is likely a good therapeutic treatment for KAT6A. He would like to be able to build KAT6A related data based on seeing more patients with KAT6A. He summarized by emphasizing how rare KAT6A is and that in order to assist in further research, the KAT6A Foundation needs to participate in research by donating results, samples and joining studies, as well as promote research by raising funds to help any interested lab get preliminary data to attract NIH funding. We can also continue to organize meetings and clinics such as this one and continue to increase awareness about KAT6A in the world.
The meeting concluded with some time for the families to meet, share information, and speak individually with the doctors. For those present as well as those families who were listening to the live feed, this first get-together was stimulating, rejuvenating, and gave us hope for our children’s future.
You can view the full presentations by the medical specialist on our KAT6A Foundation Youtube channel.
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Chase is 3 years old and one of the happiest kids I know. He is the third youngest out of four kids and couldn’t love his siblings more. He is happy just to sit by his big brothers and watch them play video games 🙂
Chase’s story started November 1, 2014 when he was born via emergency c-section. Nothing about the delivery was ideal. We started out going in to get induced and having Chase manually flipped around in my belly. Once his heart rate fell the doctors decided it would be best to get him out as quickly as possible. When Chase was born he was immediately intubated due to meconium aspiration. Little did we know this was the best thing that could have happened for him.
Chase was brought straight to the NICU. Everyone assured us that it was just for observation and he would be joining us shortly. After hours turned into days of him not coming to our room I knew something was wrong. When Chase was 3 days old he had an X-ray of his lungs to check on the meconium. Luckily his heart was also in this X-ray because that is how they found his heart defect. Chase had 3 holes in his heart along with a valve problem. If it weren’t for him aspirating on meconium we would never have figured this out so soon.
Once the heart defect was discovered the whirlwind started. They started looking into what could have caused this and they decided it was probably genetic. That’s when the testing started, the specialists started coming around, and problem after problem was being found.
Chase had a g-tube placed and a nissen fundoplication when he was 5 weeks old. It was decided that eating orally just wasn’t going to happen for Chase at that time. Exactly 2 weeks later, at 7 weeks old, Chase under went open heart surgery to repair his heart.
At 10 weeks old Chase got to leave the hospital for the first time. We learned what our new normal was with a medically complex child but we still didn’t have an answer to why this all was happening to him. When Chase was one year old we finally got the results form the whole exome sequencing and that is when we got our answer, KAT6A.
Since being diagnosed with KAT6A, we have learned a lot and met so many great people. The KAT6A support group has been a life saver. When your child’s doctor tells you they have never seen a child with your child’s diagnosis and is unable to answer all of the questions you have from this life changing test result you feel completely lost. The other parents of kids with KAT6A have been there to answer questions, give words of encouragement, and just be there when you need it.
This isn’t the life I asked for but it’s the one that was meant for me.
Jessica, Chase’s Mom
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