Bruno’s journey began in 2019. From his birth on October 11th, 2017 we already knew that something was happening but we didn’t have a final diagnosis until February 21st, 2019.
Even though the pregnancy was normal, when I was 37 weeks pregnant Bruno hadn’t turned yet. He was going to be born breech and my gynecologist convinced me to let them turn him around in my uterus to avoid a C-section. I agreed and when I was 40 weeks pregnant my labor was induced since Bruno’s heart wasn’t beating as well as doctors had hoped.
My labor was amazing and in only four hours I had my baby in my arms. I still cry when I think about that tiny beautiful face.
From there on things began to happen. Forty eight hours later we left the hospital without being able to get Bruno to breastfeed or take a bottle. He was fed 10 ml of formula with a syringe, and was diagnosed with hypotony cervical-axial and micrognathia.
From that moment on, everything has been agonizing. At only fifteen weeks he had a stomach protector and they changed his formula to a special milk without proteins from cow’s milk. It turned out he was lactose intolerant and he had almost got intestinal ulcers. Because of all of his stomach problems he wasn’t even gaining 50gr and we weren’t able to stabilize his weight in any way.
He spent every night crying and we cried with him. When we were able to correct his dose of medication from his stomach he started gaining weight. However, he was already 4 months behind in growth and we began to notice that he wasn’t doing many things that corresponded to his age as far as psychomotor movements. All of this, combined with an atrial septal defect in one of his many check-ups, sounded the alarm when he was only 6 months old. He already had a heart diagnosis, an appointment with the geneticist, check-ups with infant digestive specialists, and he had started with physical therapy and child psychology.
It all continued to develop and the operations started to become the new normal; heart surgery, tear duct opening, a possible knot if his esophagus. It was a nightmare that never ended and every time we went to the pediatrician it was something new.
Finally we received the feared but long awaited diagnosis; KAT6A syndrome. Although we thought that a diagnosis would give us encouragement, it was the total opposite. It erased all the hopes that we had that one day Bruno would lead a normal life. We forgot about all of the strides that he had made in the last 16 months and we thought that we would never be happy again.
At first the doctors only had bad news for us, saying that he would never be able to speak or walk because he had a severe handicap. However, little by little we have seen that with therapy and effort, great things can be achieved and we began to see the light again.
Bruno is currently going to physical therapy, a psychologist, speech therapy, and special therapeutic classes at the swimming pool and at the equestrian center with horses. He can walk and although he doesn’t speak he can make sounds and pronounce some syllables. He communicates in his own way despite his disabilities and above all, and most importantly, he is HAPPY.
On our journey we found the KAT6A Foundation on Facebook and through this group we have connected with other families in Spain. We also found the ‘Asociación KAT6A y Amigos’ which has helped us immeasurably to overcome every obstacle and has guided us to help Bruno progress as much as possible.
Thank you to all of you and to our medical team who have made something which once seemed so complicated, much easier for us now.
By Veronica
Spanish Translation:
Bruno comenzó su viaje en 2019. Desde su nacimiento el 11-10-2017, nosotros ya sabíamos que algo ocurría, pero no tuvimos un diagnóstico definitivo hasta el 21-02-2019.
Aunque el embarazo fue normal, cuando estaba de 37 semanas Bruno no se había dado la vuelta, venía de nalgas y mi ginecóloga me convenció para que les dejase darle la vuelta en el útero y evitar la cesárea. Me presté a ello y cuando cumplí las cuarenta semanas me provocaron el parto porque el corazón de Bruno no latía todo lo bien que ellos querían.
Tuve un parto buenísimo y en apenas cuatro horas tenía a mi pequeño en brazos. Aquella preciosa carita, aún se me saltan las lágrimas al pensarlo.
Y ahí empezó todo, 48 horas después salimos del hospital sin conseguir que bruno succionara el pecho ni el biberón, alimentándose de 10 ml desde una jeringuilla, y con un diagnóstico de hipotonía cérvico-axial y micrognatia.
A partir de ese momento ya todo fue un calvario, con apenas 15 días ya tomaba protector estomacal y le cambiaron a la leche especial sin proteína de leche de vaca porque era intolerante y casi había llegado a colitis ulcerosa. Debido a todos los problemas estomacales que tenía no cogía ni 50 gr con lo que no conseguíamos estabilizarlo de ninguna manera.
Se pasaba las noches llorando y nosotros llorando con él. Cuando conseguimos dar con la dosis de medicación adecuada para el estómago, empezó a ganar peso, pero ya llevaba 4 meses de retraso y empezamos a notar que había muchas cosas que por edad le correspondía hacer a nivel psicomotor y no las hacía. Eso unido a que el pediatra descubrió una CIA en una de sus múltiples revisiones, hizo que saltasen todas las alarmas y con sólo 6 meses ya tenía un diagnóstico cardiaco, una cita con genética, un control por digestivo infantil y había empezado en atención temprana con fisioterapeuta y psicólogo.
Todo siguió avanzando y las operaciones empezaron a sonar en nuestra cabeza, corazón, apertura del lacrimal, testículo en resorte, posible nudo esofágico; parecía una pesadilla que no acaba nunca, cada vez que íbamos al pediatra era una cosa nueva
Y llegó el temido pero a la vez esperado diagnóstico, Mutación en KAT6A, y aunque pensamos que un diagnóstico nos daría aliento, todo lo contrario, mató todas las esperanzas que teníamos de que algún día Bruno pudiera llevar una vida normal. Todos los avances que había hecho en los 16 meses que tenía se nos olvidaron, y pensamos que nunca más volveríamos a ser felices.
Al principio nos lo pusieron todo muy mal diciéndonos que no podría hablar que tenía una discapacidad muy grande y que no sabían si llegaría tampoco a caminar, pero poco a poco vimos que con terapias y con esfuerzo se podían conseguir grandes cosas y empezamos de nuevo a ver la luz.
Hoy por hoy, Bruno acude a fisioterapeuta, psicólogo, logopeda, terapia acuática y terapia ecuestre, ya camina sólo y, no habla, pero emite sonidos y dice alguna sílaba. Se relaciona y comunica a su manera a pesar de su discapacidad y, sobre todo, lo más importante, es FELIZ.
Por el camino nos encontramos con la Kat6A Fundation en Facebook y, a través de ellos, con el resto de familias que hay en España y con la Asociacion Kat6A y Amigos, que nos han ayudado lo indecible a
superar cada obstáculo, y nos han guiado para poder ayudar a que Bruno avance todo lo que sea posible.
Gracias a todos ellos y al equipo médico por hacernos fácil lo que al principio nos pareció tan complicado.
I was born in 1989. The birth lasted for 33 hours. I was measured to be 49 cm and 3160 grams. During birth I had swallowed amniotic fluid. I could not breathe, and my skin turned blue. The doctors took me to the next room to pump. I also had a hidden cleft palate, so I had difficulties at breastfeeding. I probably couldn’t close my lips around the nipple, so I had to get fed with baby formula. From when I was 7.5 months to when I was 10 months, I was very cold with fever up to 40 celsius. I could often cry until I turned blue and lost my breath, so the doctors diagnosed it asthma. When I was three months old, I was hospitalized for 3 weeks with left foot in a knit because of an bone cyst.(which made it so that the foot broke). I had common cold, chickenpox and otitis, so I had 10 penicillin treatments through 6 months in my early years.
In kindergarten I was a silent and calm kid. I remember the other kids didn’t let me in on their play, and I, instead of using words, reacted violently. In primary school, fifth grade, PPT (the school psychiatric team) gave me an IQ test, where my score was a little over “mentally deficient”. The doctor recommended to keep it, and put the term “mild” in front of it, as it would improve my right to facilitation at school. I was granted a classroom assistant, was placed front row in the classroom, windowside. Thus, I had to turn around to see what my classmates were up to. Socially, this was a disaster. I went to a speech therapist, and measurement of hearing. I have had a lot of otitis throughout my childhood. I had many infections as a child, but it’s rare that I become sick when I was in my 20’s. I took the most of it with a smile.
My adulthood has been kind of better. I have some struggles, because I got detected with ADD/ADHD Inattentive type back in 2014 during the autumn, so I’m struggling with some of the symptoms that comes with it as well. I got driver license in 2011, and I love to drive. I would like to expand my social life, but since I’m a calm and silent person(at times) I think it’s a little difficult to get to know more people, specially in occasions where there are many people. I can then seem shy or that I’m not interested, but I easily get distracted when there are alot of people around.
Now that I am an adult, I work in a protected company which is a permanently adapted job for people who for various reasons can’t be in ordinary work. I have great colleagues and it’s a great place to work. We are also good at taking care of health, environment and safety requirements I have two friends that I work with and since they don’t have a driver license, I pick them up in the morning and bring them to work. We use to meet after work and on weekends.
I’m happy that I found and can be a part of the KAT6A support group.
by Caroline
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18 years and 31 days after he took his first labored breath, we have a diagnosis for my boy.
The genetics department called a couple of days after Christmas to share the news, and I have been reeling since. For 30 days now, I have been down the rabbit hole of investigating KAT6A Syndrome. I waited 16 years for this news. And now that I have it, I’m a mixed mess of emotion. Relieved to finally have an answer. Shocked to finally have an answer, when I was resigned to not ever having one. I’m overwhelmed by the news and the information I’ve been devouring. Gratified to see that I have been providing Braeden with the best options for addressing the symptoms and pieces of this syndrome, with the exception of a supplement cocktail that may help.
I joined a Facebook support group that is nothing short of amazing. For the first time in Braeden’s 18 years and 31 days of life, I am reading story after story about fellow KAT6A parents and children and with tears in my eyes exclaiming “us too!” The camaraderie is uplifting and so much more helpful than I can adequately express. I’m seeing photos of kiddos that could be Braeden at that same age. That hold their hands in the same unique position that he does. There are only 180 or so diagnosed cases of KAT6A Syndrome, worldwide. In a month, that number jumped up from 166 known cases. Braeden is one of the older diagnosed patients. Most of the parents in the support group have younger children. Braeden appears to have a *middle of the road* case. This syndrome affects everyone differently. The severity of symptoms ranges from very profound disabilities, to very mild. I’ve said over and over that I’m an open book because I don’t want other special needs parents to feel the pain of isolation. So far, Everything that Braeden has dealt with, appears to be KAT6A related. The ACM1, apraxia, orchiopexy repair, sensory issues, failure to thrive, low muscle tone, acid reflux…….all of it. KAT6A Syndrome. Within this support group I’ve been able to give parents of younger patients hope that their kids will outgrow some of the symptoms they are dealing with now. I’d forgotten several things Braeden outgrew. Ankle braces, acid reflux, severe feeding difficulties among a few. From parents of the few patients who are older than Braeden, I’ve gotten similar comfort. The main thing being that this doesn’t appear to be degenerative.
The slightly unnerving part of that, is that we don’t know for certain. This Syndrome was only discovered a few short years ago. 2015, I believe.
I’ve chirped about this on Facebook incessantly over the last month. Today I needed to write about it here, to unburden myself of how overwhelmed I am. There are so many moving parts to Braeden turning 18, and this diagnosis is so profound right in the middle of all of those things….today I’m feeling the weight of it all. Today I’m exhausted. And hell, for shits and giggles, my body decided to throw another health crisis for me into the mix. Hello kidney stones, my old nemesis. I passed one during Braeden’s birthday week, and there are 4 more waiting in the wings. Today I have low back pain again, and I am in a cold sweat that another meteor is ready to bust loose.
Today the weight of all of it is heavy.
Today I’m allowing myself some tears, some escape TV watching, and grace for not accomplishing anything on my to-do list.
Tomorrow, I will fill out the research questionnaire online, and register Braeden so that his medical history can be used to further the medical community’s knowledge about KAT6A Syndrome.
Next month, I was gifted airline tickets so I can attend the second annual KAT6A clinic. I’m so looking forward to meeting other people with this syndrome, and their parents who truly understand what this life is like. I think it will be very emotional and uplifting. I’m excited to learn more from the researchers and doctors who are working hard to learn more about it.
For the rest of today…..grace. Giving Braeden a bath. Reading to him for awhile before bed time. Packing his bag to take him to work with me tomorrow. Tonight I will read something that isn’t geared toward finishing the guardianship process, or healing my kidney stones and thyroid and skin cancer. Tonight I will spray my pillow with lavender, and meditate. Tonight I will turn off my brain and sleep. Tonight I will be *brave* enough to *believe* that things are always working out for us.
by Sonia
Read more from Sonia at her personal blog https://andhecallsmemommomm.wordpress.com/
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To all the children who attended the KAT6A clinic,
Whether you are a child or a sibling of a child affected by the KAT6A Syndrome,
I would like to thank you for your patience, compassion, and your incredible tolerance of each other feelings and behaviors.
You came to Baltimore after sitting in a car for long hours or waiting in a line at an airport to take a flight.
You slept in a hotel room for a night or two, away from your own bed, away from your books and your toys. You had to hang out with adults for dinner at restaurants that don’t have play areas or toys or games or even arts and crafts.
And your most incredible achievement was to attend a full day of scientific conferences with your parents. The friendships and relationships that you built were remarkable. In just few hours, you all knew each other names and hobbies; you all played, talked and ate together like you were “old time” friends.
Thank you for teaching us how to behave like true humans.
Thank you for teaching us love.
Natacha
KAT6A Foundation Science Director
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It feels funny even writing this title, Special Needs Child, what does that mean? All children are special and have different needs. It might be easier to use the other “label” we have recently received medically fragile/technology dependent to describe my son, Toby.
Growing up in a small urban community of 30,000 during the 70’s and 80’s, you knew most people and while there were some kids that needed a little extra, there weren’t many. Unfortunately it wasn’t till I got married and started coaching swimming with Special Olympics that I became involved with the disabled/handicapped community. Over the 15 years that I spent with the team I learned a lot and made some great friends (some of whom now call my son their friend as well) but I will get into that latter.
Zachary my older son was born healthy and only spent the minimum time in hospital. Even to this day he is overall healthy and has developed normally hitting the developmental milestones by which the doctors measure a child. Almost 2 years later my son Toby was born. This was a very different experience.
Toby was born 8 days early on a Friday the 13th. I had to travel for business and was flying home when the doctors delivered him by emergency c-section. My wife had labored part of the night and my parents had come down to take her to the hospital and look after Zachary. When my wife arrived at the hospital she was already dilated but her water hadn’t broken. The doctors discovered that Toby was sideways and tried to turn him before delivery. The doctors discovered that Toby was in distress so decided to do a c-section with epidural. After they broke her water, the doctor’s lost Toby’s heartbeat and decided that they needed to do an emergency c-section with a general anesthesia. When delivered, Toby was without vital signs and had to be resuscitated. The pediatrician was on the phone with the doctors who did the delivery rushing to the hospital in his car so the anesthesiologist and the delivery room nurse resuscitated him. As the doctors weren’t sure how long he was without vital signs and he was having difficulty breathing, they put him on oxygen and rushed him into the special care nursery.
When I landed at the hospital, I called home expecting my wife to be there only to be told that my mother had taken her to the hospital a few hours before. I then called the hospital and spoke to one of the nurses who had just come on shift. All she would tell me on the phone was that it was a boy and he had been delivered by c-section and I should try to get to the hospital as soon as possible. When I arrived at the hospital, I headed right to the maternity ward expecting to find my wife, my mom and my son there. I was told that my son was in the nursery and I could see him but my wife was still recovering from the c-section. I visited with Toby for a few minutes and then went to see my wife who was just coming out of anesthesia. It was different seeing him, all hooked up to various monitors and on oxygen to help him breath. Later that day the doctors came to see us and discuss some of what had gone on during the delivery and they continued to monitor him in the nursery. My wife wasn’t able to get into see him till later the next day as they didn’t want her tearing the stitches. I made sure that Zachary came in to see his mom and new little brother.
Over the next few days, the doctors continued to monitor him and run various tests including head ultrasounds, CT scans, x-rays and bloodwork. Most times the nurses were really good and would let us know when the tests results were received, but the CT results seemed to take forever to be received. Eventually they said that the doctor was coming up to discuss with us. Shortly before the meeting, an unknown individual showed up in the nursery. She spoke with the nurses in hushed tones and this is when I started to suspect that something might be seriously wrong. The doctor arrived and as there were other parents in the nursery asked us if we would like to step across the hall to discuss the results. As we were leaving the nursery, the unknown woman followed and picked up a box of Kleenex on the way out the door. At this point, I knew we were starting a difficult journey. The doctor and social worker discussed the test results. They showed that Toby wasn’t developing as expected. They indicated that they could do further testing here at this hospital but would have to send the results to a children’s hospital about 15 mins away to have them interpreted or they could see about transferring him to the children’s hospital where all the testing could be done and we would have all the pediatric specialists we might need at our finger tips. This was day 5 after delivery. They suggested that we go home that evening (first time my wife had slept away from the hospital since Toby was delivered) and let them know in the morning.
The next morning we went back and met with the doctors. We felt that it was best to transfer Toby to the children’s hospital and so our 5 week journey there began. During his time there, more tests were done, specialists consulted and he continued to monitor for what the doctors called “failure to thrive”. During this time, my wife lived at the hospital and I tried to work, manage home and spend time with Toby. Zachary got to spend quality time with both sets of grandparents and also got to see his brother. Everyone said that he was continuing to grow but not at the rate which they hoped/expected him too. After a total of about 6 weeks in hospital we were finally able to bring him home. His first official trip out was to attend my swim team’s annual pool party and BBQ. The second was to visit with his great-great Auntie who was visiting from the east coast. Over the next year, he continued to be followed by multiple specialists and at a developmental pediatrician. There were a few minor medical issues which were dealt which including club feet surgery (Tendon transfer bilaterally) at 18 months old and strabismus in both eyes at ?. We were told that genetically there was nothing found on the tests done and that they believed the developmental delays he was experiencing were a result of his traumatic birth.
Toby struggled when he started in school because he didn’t speak. We were able to get him additional resources but the education system was recommending that we put him into a communication program which would help him develop functional communication. At age 6 we did this thinking that this would help him and still believed that it was in his best interests to help him grow and develop into the person he was and be able to communicate with those around him. After 3 years in this program, he was making little progress and we were becoming frustrated with some of the “professionals” who were supposed to be working with him. He had not progressed to using assistive communication devices such as his Ipad to communicate and instead preferred to try to verbalize and attempt to speak. At this point while he was able to function at home he was so far behind his peers at school academically that he wasn’t going to be able to return to a regular classroom and we made the decision to integrate him into a lifeskills class. We met with the teachers, school board professionals and made this difficult decision. Since entering this class he has begun to flourish and began to speak more because he was now with classmates who while they all had limitations, most of them did speak and he picked up on this and did start speaking more and his speech began to improve. This improvement continues till today and he is now able to make himself understood verbally in most situations. We see that while his expressive language continues to lag behind, he does understand (receptive language) is much better. We aren’t sure how much of his surroundings he actually understands but it does appear more than he is able to tell us in words.
About 2 ½ years ago we had a number of bouts of pneumonia and our new journey began. Initially they couldn’t understand why he would get so sick from the pneumonia and eventually determined that he had an immunodeficiency. They began treating this and we noticed some improvement. The doctors at our local children’s hospital tried to do a pulmonary function test to determine what if any damage had been done by the recurrent bouts of pneumonia. Unfortunately he wasn’t able to perform the testing at their location due to equipment issues so he was referred to another specialist at a nearby children’s hospital who gathered information, looked at his chest x-rays, did some further testing and came back to us with the question “Is the PFT really the most important thing here or do we need to find out what is going on and work from there?” We agreed that it was more important to determine underlying cause of the lung issues. We went in for what we thought was a bronchoscopy and CT of his lungs to see if they could identify the cause of what they were seeing in the chest x-rays of his lungs. After reviewing the CT the doctors indicated that he appeared sicker than they had expected and admitted him and wanted to run further testing. Over the next 2 weeks he underwent a double bone marrow biopsy, lymph node biopsy and lung resection as well as the bronchoscopy and bronchial lavage (washing of the lungs). All of these came back inconclusive or not clear. No bacteria or viruses grew in the material from his lungs and there wasn’t any evidence of malignancy so they continued to test and coordinate with multiple specialist. After a month as an inpatient they said, that they didn’t know exactly what was going on but we could take him, they would continue to follow him and sent us home with oxygen to used at night and a high dose of prednisone which they hoped would help clear up his lungs, shrink his spleen which was enlarged and hope to see an overall improvement in his health. They also did some genetic testing as they indicated it had come a long way in the years since had testing done at birth.
Months later the results of his genetic testing came back. It showed that he had a “de novo” genetic mutation. It was called KAT6A and had only been identified in the last 3-5 years. No one seemed to know much about, there was not currently any curative treatment and all they could offer was to treat the symptoms caused by it. Through doing research and getting to know others with this rare genetic diagnosis we have discovered that some of the issues he has had at birth are likely related to this misspelling of his genetic makeup but it doesn’t explain his immunological issues. He continues to be treated regularly for the immunology issues and overall his health has improved. He is getting sick less and we are seeing gradual improvement.
At this time, Toby is the oldest of 8 youth in Canada who have been identified and one of approximately 170 in the world, who have this variation in his KAT6A gene. This is still a very rare condition and while we believe that there are likely more people with variant it is a costly and lengthy process to undergo the whole genome sequencing required to identify it.
While it has had its challenges over the years, I wouldn’t trade the experiences and people we have meet over the years for anything. Toby is a happy, loving young man who is growing up and takes his challenges in stride. When he meets a new doctor and they ask if they can poke or prod him to see what an enlarged spleen feels like or listen to his chest, he is more than willing. Just because the doctors say your child is unique or a conundrum, don’t look at this negatively and think maybe by learning about my child they can help someone else.
Ed
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Christmas has always been a big deal in our house. All of us, kids and parents, enjoy the feeling of Christmas. We especially love the glittery, sparkly decorations that come along with it. We always have lots of garland, lights, and decorations in our house—you know—all the sparkly fun things kids love!
When you have a special needs child, those things can be either wonderful or horrific. For Holden, who is three and a half years old, it depends on his mood of the day. This year, when we pulled the Christmas tree out of the bag for the first time, we thought poor Holden was going to have a heart attack! A big, green,prickly, scary thing in the house! Holden must have thought it was a big green monster. But we got it set up with all the decorations and lights and he began to be curious about it. Pretty soon he was pulling ornaments off the tree. As the mom of three boys, I will be the first to tell you that the last thing you want is a child pulling ornaments and decorations off your beautiful tree. But when Holden began to do that instead of showing fear or aggravation I was happy! We were all relieved he was no longer scared of the tree and was enjoying having it in the house. We let him explore and figure out that the Christmas tree was harmless and was not going to hurt him.
Like many kids with special needs, Holden does not do well with change, and he has become much more observant of his surroundings over the last year. So many different things can upset him and cause him to be very unhappy. Now that it is the Christmas season, our house is not looking the same as it always does. The first few days with the decorations, he was really confused and upset about the changes. With a lot of patience and some time, Holden has become used to all the new things in the house and is actually starting to enjoy some of them.
Since we never know what simple thing might be the one thing that he just doesn’t agree with, we were worried about what his reaction to Sant Claus would be. Surprisingly, Holden was perfectly fine seeing Santa and sitting on his lap! His older brothers were sitting next to him, so that made him feel safe and secure.
We hope everyone has a blessed Christmas season.
Love,
The Green Family
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It has been an exciting few months in our household. We welcomed our daughter, Emma, on July1st, 2018. Jack has been a wonderful big brother thus far. He is beginning to notice Emma more and more each day; there are even times when he seems annoyed by his little sister (as a typical three-year-old might)!
Even though life has been quite hectic since our newest addition arrived, we have made sure to continue with all of Jack’s weekly therapies. One therapy in particular that has made an impact is Aquatic Therapy. Jack works with a PT in the water one on one every Wednesday morning for 45 minutes. Not only does Jack truly enjoy swimming, but the benefits are clearly evident. Each session provides Jack with the opportunity to improve core strength, mobility, balance reactions and range of motion. He is happy and motivated to move in the water. The therapeutic properties of the water allow Jack to move more freely and independently. He tolerates handling, stretching, and active exercises, in conjunction with lots of sensory input. Jack often smiles throughout his sessions and happily kicks and splashes his way around the pool. It goes without saying that physical therapy is so important for our KAT6A kids, but we can honestly say that Jack would not be making all the progress that he is without his weekly time in the water!
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I got naturally pregnant in 2013. During pregnancy, the diagnosis of hydronephrosis in two kidneys was reported in the 23rd week at the baby and then issue was followed by doctors.
A caesarean operation was performed at the 38th week due to a decrease in the water in the uterus and an increase in hydronephrosis in the infant’s kidneys.
On February 18 . 2014, Our little boy Rüzgar was born. When we saw him the first time , The doctors told us that Rüzgar was trapped in my abdomen and that he had an uncut testis.
Rüzgar was circumcised with the diagnosis of hydronephrosis in the first week after his birth. Circumcision regulated the left kidney function of Rüzgar and a month later , it was decided by the doctors to undergo surgery for left inguinal hernia.
When Rüzgar was three months old, we noticed that he did not make any eye contact with us and did not follow us. We decided to go to a doctor about this. The doctor said this was not a big problem and they would follow this issue. They also advised us let Rüzgar to watch the cartoons on the television. Doing this, still did not make any progress but we followed the instructions.
In all these processes, Rüzgar was fed with my breast milk. As his sucking reflex was not so good, we fed him my milk with glassess.
When Rüzgar was six months old, he had epileptic seizures. After the result of EEG, we started to use a drug called Sabril and the result of the brain MR was clean. The EEG results in later processes were clean. In the meantime, a serious problem of constipation did not leave us. He was fed with breast milk for approximately 7 months.
During this process, the kidneys were examined frequently . The functions of the left kidney were stabilized but the doctors decided to operate for the right kidney . Hydronephrosis was rapidly enlarged, and kidney stones were made, and the stone pain began to be serious.
On the other hand, Rüzgar started physiotherapy training and an intensive training was going on. We changed the drug Sabril with Convulex syrup for Rüzgar ‘s epilepsy seizures ,because of the serious side effects for eyes . We are still using Convulex Syrup as 75 cc in the evenings – 75 cc in the mornings.
Our neurologist thought that different medicines would be good for Rüzgar . For this reason , we used three curing Cortexin needles. Later, we used following drug, which is used by homeopaths in the name Cerebrum, for three months. In fact, we tried a diet called GAPS, but we decided that it was not suitable for us because of the kidneys. But I think this diet was good.
In the meantime, a diagnosis could not be found, Doctors told us that he was more close to autism.
When Rüzgar was three years old , we went to the genetic doctor. We did some test given by the doctors , but due to lack of technology in Turkey in that time , the prognosis could not be make . The doctors also informed us that the heart of Rüzgar should be checked. We quickly went to a doctor about the heart and learned that there was a hole in the heart that was not serious, but which had to be followed up. This process is still followed up by doctors.
In addition, we have started physical therapy, pool therapies, sensory integration training, and physical therapy using the Anat Baniel Method. With the help of these lessons / trainings, Rüzgar began to sit and crawl. Those days he didn’t make a lot of noise, now he’s turned into a kid who always shouts and tries to make sounds. Now he is standing on his own by the window and started to walk side by side. He still can’t stand up alone, but he can stand up, with support.
Controls of the kidneys is still continuing . In addition, we are in constantly checked because the kidney is still an issue .Besides all this he drools alot, we call it honey mouth 🙂
We went to a doctor in Uster city in Switzerland, which is recommended to us about eye focus. He gave us some lights and sounds. Rüzgar can be a good musician in the future , he has a good ear for music and rhythm.
He is the happiest and the most peaceful child of the world When i look at him i thank God for the moments i spent with him . Everyone’s story is different, I know every child is special, but when you look at Rüzgar, especially when your eyes meets his eyes , you will get overfloated with
magic .
Unfortunately we have no idea how to reach him and how to get in his world.
I hope you can be a light and hope for Rüzgar and us.
Written by Aysun
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Important Safety Tips You Must Teach Your Child if Lost
It’s a parent’s worst nightmare and can happen so quickly. You are in a public place and your little one is right next to you, but you look away for one second, and he is gone.
Why teach young kids what to do if they get lost?
Because it can happen to the best of us. I arrogantly used to think that good parents like myself don’t lose track of their children. My two older boys (10 years apart in age) had never gotten lost or separated from me on an outing. But then the twins came along. And humbled me to my core!
The twins have always found great pleasure in going in opposite directions and wreaking havoc at home. So taking them out by myself when they were smaller required keeping them contained in the double stroller. They didn’t like being confined, but it was necessary to prevent one from getting lost or separated from me.
But one day, I foolishly attempted to take them both into the store without the stroller. I only needed one thing, how hard could it be? One toddler on each side of me holding my hand. Easy enough. Until I had to release a kid’s hand so I could pay. One twin took off and when I let go of the other to catch the run-away, he thought it was all really funny, so he darted off too! I somehow grabbed them both, restrained one kid between my knees and the other with one hand while I clumsily used my free hand to finish paying.
PRO TIP:
To make my life easier, I shop for EVERYTHING possible online and use grocery store pickup services and pharmacy drive throughs. I go to great lengths to NOT take the twins out by myself! While it seems the simple solution is to minimize our outings, the reality is that I needed to start teaching the twins what to do if they became separated from me or got lost. And obviously I needed to teach the little turkeys to obey and not run from mommy….but that’s a whole ‘nother blog post!
What if your child is non verbal?
One of the twin boys, Beckem,was born with an extremely rare disorder called KAT6A. One of his struggles is that he is non verbal, yet he comprehends everything that is being said to him. Although he lacks the motor planning to speak with his voice, he communicates with us quite well with some sign language, some word approximations, and gestures, but a stranger wouldn’t be able to understand. Beckem also does well with his AAC device, but he’s still too young to be expected to keep up with it. Before we went to Disney, I brainstormed and researched for months for ways to keep track of the twins in case one got separated from us. At 5 years of age, I knew that Adler would be able to articulate to a grown up the information needed to reconnect with us, but there was no way Beckem would be able to. I looked at those kid gps gadgets but that just didn’t seem practical for us. There are also temporary tattoos you can personalize with your info, but Beckem’s skin is so sensitive that I wasn’t sure if that would work. The identification bracelets seem to be a nifty solution, but Beckem refused to leave his bracelet on when we went to the water park last summer, so I knew that wouldn’t be an effective option.
After all of that searching, I finally thought of the perfect solution and it cost less than $5!
A pet ID tag!
I decided I would attach the tag to Beckem’s shoe. I ordered several of the yellow star tags so I could place one on different shoes he might wear and also put one on his backpack that he carried in the airport. I also put tags on Adler’s shoes since he hasn’t memorized our phone numbers yet. However, even if he had learned our number, if Adler were separated from us, he would likely be so upset that he wouldn’t be able to recall it. The tag has a little key ring and I simply attached that the the shoe string of his tennis shoe. For his Crocs, I used a piece of yarn and tied it through the holes in the shoe. To secure the ID tag to his boots, I use a twist tie.
So that’s it…put a dog tag on my kid? I wish it were that easy! But, you will also need to teach and prepare your kids for what they should do if they get lost.
What parents can do
There are several things parents need to do to prepare for the possibility of this situation.
Let’s Talk
First, you want to talk to your children about the importance of NOT wandering off from you, and what they should do if it does happen. Don’t make it a scary conversation and reassure them that they WILL be reunited with you.
What to Teach
Now, you want to explain to your kids that if they become lost, you will be looking for them and teach them to stay put. If they are also frantically running around or standing in a corner crying, it will take longer for you to find them.
Have them practice what standing tall and still looks like.
Say my name
Teach your child that he should stay put and shout for mom or dad as loudly as possible over and over.
Beckem does say “mama” and “da-da”, but his voice is very quiet. We practice at home periodically how to say “mama!!” loudly, and he thinks it’s great fun! You also should teach your kids their own first and last name asap and mom and dad’s first and last name as soon as they are old enough so you won’t be paged over the intercom as “mommy”. (I taught Beckem to spell and type his name as soon as he was able since he’s unable to verbalize it.)
It’s also a good idea to have kids memorize your phone number, although, I’m not going to rely on their ability to recall it if they are lost and terrified.
If yelling doesn’t work…
I’ve taught my kids to look for a mommy. Chances are, a mom has already intervened though, since every mom within earshot instinctively reacts when hearing a small child yelling “MOMMY!!!!!!” I’ve instructed Adler to find a mommy and speak big and clearly saying: “My name is Adler and I’m lost. Can you help me call my mommy? Here is her phone number on my shoe.” We’ve taught Beckem to find a mommy and say: “Mama!” and point to his tag on his shoe.
Some other things parents should do
Make sure you have a current photo of your child just in case. During our week at Disney, I took a photo of the boys with my cell phone each morning at the park entrance, in the event that I needed to know what they were wearing. I like to think I would remember what I dressed the kids in, but I know that if one of my boys wandered off, I would be so shaken that it would probably be a struggle to remember my own name!
Practice and review
Periodic reminders and practice can help our kids remember what to do if they become separated when in a public place. Being prepared can minimize a potentially scary situation and reunite parent and child quickly.
-Article written by Angela
You can read more parenting articles from Angela at her personal webpage, Handling Home Life.
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Our daughter was born on the 1st Februrary 2009 in Son Espases University Hospital, Palma, Mallorca.
She was a 36- week baby, very tiny for her age since it has been diagnosed with slow growth in the last months of pregnancy. She took long to be born and was immediately taken to intensive care were she spent the first 50 days of her life.
There, she was taken extreme and loving care by devoted doctors and nurses and we discovered how dedicated this job is. We took her home on Father’s Day ( 19th March), so as we took a bed sheet from hospital, as advised, it was a lovely little present.
We will always remember her regular visits for checks-ups and tests during the first year of her life. She felt such at home in every hospital visit that her face changed every time we entered the foyer and she smelt the care she had been receiving so far.
First days at home were not easy, she had to take many pills to regulate her kidneys and heart function and took a special milk in the bottle for she was allergic to the milk protein.
Little by little our little warrior took forces and started to eat bigger quantities and feel more relaxed. It took some years and a special therapy ( Votja ) to stop her screaming constantly and sleep tight, also to open her hands and relax since she suffered from muscular hypertonia and was always nervous and not connected to this world. For the first year in her life she was folded on her hips and spine as a ballerina in the shape of a ball.
She has had three operations and is waiting for a fourth one to be done on her spine since she has severe scoliosis. Although these operations have contributed enormously to a healthier life style,they have been the scariest waiting time in our lives. First operation, at 6 months, was a heart operation to close her persistent ductus. Second operation was to contribute to better vision ( she was not able to look completely from both eye sides) and third on her teeth (cavities and hygiene).
At one year and a half she went to the same private nursery school as her brother. She had a lovely time there with babies who were about 6 months younger than her. She enjoyed story telling , celebrations and nursery rhymes.
Later on she attended a special needs unit in a state nursery school and at four years entered the special needs school she goes to now. We are very pleased with the school and give thanks for her progress to all speech therapists, physiotherapists , teachers and other professionals that are on her side day by day. She feels really happy there, it takes her long to wake up every day, but by the time she gets to school she starts smiling and forgets it all.
Victoria is a loving, cuddling, cheerful girl who loves music, swimming, horse therapy. She loves her brother, her family, going out for a walk, attending or having parties, swimming, embraced dancing and being on a swing. She loves speeding especially on the motorway or when taking off). She has improved a lot in the last year and is much alert, but she is dependent 100% on an adult in every day tasks since she cannot walk or speak.
She’s being taught to feed herself, she can mount her special chair with help and switch on/off lights. At present we are focusing on walking and improving speaking. As for the first, she is not able to stand, but has the walking pattern and is eager to walk. Related to speech therapy we are using an alternative system of communication (Grid 3) with the help of an eye tracker (Tobii 4C).
She was diagnosed with KAT6A about 3 years and a half before. We do not know where she can get, but have faith in the future and, as a family, want the best for her.
She’s taught us many things such as the power of love, being patient and to be positive and smile to the future.
Written by Pilar
Mi reloj tiene un duende
“Lo mismo que me sorprende que un oficinista de banco nunca se haya comido un cheque, asimismo me asombra que nunca antes de mí, a ningún otro pintor se le ocurriese pintar un reloj blando”.
(Dalí sobre su cuadro ”La persistencia del Tiempo”)
Hay una exagerada tendencia a creer en la ciencia, sobre todo desde que la gente comprueba que la aparatología es maravillosa. Antes te sometías a una colonoscopia en vivo y, además de la escena, estaba, aterrador e insoportable, el dolor con sus garras. Ahora te haces una siestecita y lo primero que aparece entre las brumas de la ante vigilia, es el rostro sonriente de tu médico, que ya es un amigo.
Georges Braque, el pintor, decía: “La ciencia está para dar seguridad, el arte para turbar”.
La ciencia, a palo seco, se convierte en una fábrica, pero de repente, aparece alguien como Steve Jobs y es como si entreviéramos la silueta de Leonardo. Entonces la ciencia despega, porque hemos añadido el genio.
El físico estadounidense David Wineland y el francés Serge Haroche ganaron el Nobel de Física 2012 por “sus innovadores métodos experimentales para la medición y manipulación de sistemas cuánticos”. Su trabajo ha permitido conseguir relojes mucho más precisos y dar importantes pasos en los ordenadores del futuro.
¡Aja!…eso si que le va a gustar al personal. Nos hemos pasado toda la historia de la humanidad tratando de ser los autores del cambio de su curso, o sea de manipularla.
Todos imaginamos que un reloj diseñado por Wineland &Haroche, en la vida frenética que llegamos será fantástico: si te quedas sobado una mañana, y al llegar al Metro el tren ya ha partido, entonces: toque al reloj, el tiempo retrocede y tu pillas el vagón tranquilamente y encima te sientas.
Aplicado a las citas es genial. Quieres seducir a es@ chic@, y en el japo de moda no hay mesa. Disimulas y ya estás bebiendo la horrible cerveza aguada que es lo peor de los Restaurantes Japoneses. Asimismo, podremos volver atrás para callar las palabras que no quisimos decir, o ver la vida desde el lado del otro (muy recomendable); conocer a los parientes que murieron antes que nosotros pudiéramos tener uso de razón; dar ese beso congelado, pedir esas disculpas que nunca llegamos a dar… Y ¡tantas cosas!.
Sin llegar a eso, ni a los relojes blandos de Dalí, pura metáfora, yo estoy convencido de que en mis relojes habita un duende.
El mío es siempre el mismo. Si me pongo uno u otro reloj, le obligo a cambiar de habitáculo, y es evidente que no en todos se encuentra igual, porque adapta las horas que acaban siendo mi tiempo, según le apetece. Por eso tengo días en los que los minutos en su devenir, se arrastran como pesadas sombras que recorriesen largos pasillos de mansiones victorianas. A veces, todo va muy rápido y sincopado pero en algún momento se encasquilla. Es un tiempo seco y tartamudo, de cartón y poliestireno expandido
Tengo muchos relojes porque me gusta el diseño, pero ni el más caro supera los 100€. Uno de los más queridos me lo regaló ella: Victoria.
Creo que lo debió hacer porque llegaba siempre tarde a sus fiestas de cumpleaños. Se trata de un reloj de sobremesa, que parece adecuado para indicarme:
– ¡venga!, ¡comienza a arreglarte!
La primera sorpresa es que se abre como una lata: tirando de una anilla como si fueras a merendar pâtè con pan de molde, aparece la esfera convencional de un reloj vintage. Luego resulta, que además es imantable, o sea que se adhiere a superficies metálicas para que puedas llevártelo y fijarlo.
No sé si serán imaginaciones mías, pero es el favorito de mi duende. Creo que es donde hace la siesta cuando yo la hago, y duerme en las horas de mis sueños…Con este reloj, los días se deslizan como cucharadas de miel en una primavera fría. Las horas caen como pétalos de flor de almendro; los minutos como copos de avena; y los segundos como gotas de lluvia breve, un perfume inventado por mi abuela al que llamaba “Lágrimas de Abril”.
De noche ese reloj hace ruiditos como si el duende se levantara a comer rosquillas de anís, a hacer pis, o a mirar si duermo. Pero ahora el que no duerme soy yo, que miro si el duende da señales de vida y…no sé… miro si tiende la colada o sale a fumar a las 3, sentado en la manecilla pequeña, o cosas así.
De repente, las manecillas, entonan un tic tac tic tac que se asemeja a una carrerilla que viniera de lejos. En ocasiones, ese ruidito rítmico, va “in crecendo”. No es mi duende porque él es discreto y silencioso; pero como Victoria asiste a clases de hípica, pienso si vendrá ella a verme, al trote de su querido caballo, y me pegunto si llegará, de carnaval, gitana de sol y luna con la bata de cola, con alegría de cascabeles en las crines de su montura, y de lunares rojos en sus zapatos de baile, que llevan prendido con zambra, el taconeo embrujado del flamenco.
Taca,tacataca ¡tac!.
Jaime Roig de Diego
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