On Friday, April 27, 2001 Maddie was born. We had our perfect little girl to love at last. As our love grew, our perception of perfection changed. We experienced joy in the smallest of accomplishments as we searched for answers, visited doctors, missed milestones, and counted calories. There were no answers and no silver bullets. We were told many things might not be possible. We were told Maddie might not walk . . . might not talk. We were told if she did not start eating she might die. We discovered that love and fear are first cousins. We learned that standard milestones could not matter to us; we could be ecstatic as long as Maddie kept moving forward. Every time she proved a specialist wrong we danced. Every time she won the heart of another adult with her sweet smile and loving nature we celebrated. Sometimes we got lost and forgot what was important, those times we cried. At 30 months old we found out she had a chromosomal disorder that did not even have a name. We really didn’t understand.
On Monday, January 26, 2004 we arrived in Houston for a clinical study of the genetic disorder called Dup17p 11.2. Doctor Potocki and her staff were wonderful and in five days of tests we had a tremendous amount of information but not a lot of understanding. On the last day of the Texas Children’s clinical study someone asked her if she could stand on one foot. After all the testing she was exhausted and didn’t even try. That night in a hotel room, her Mom and I looked around the corner to see Maddie in front of a mirror practicing standing on one foot. That simple act was the beginning of Maddie’s efforts to help us gain an understanding no one else could give us, she wants to succeed, it just takes a while.
On Saturday, December 14, 2013 Maddie achieved the rank of Black Belt in Shaolin Kempo Karate. She was presented her Black Belt by World Champion Master Fred Lapan (check him out on youtube) after a very rigorous three hour test. Maddie started studying Karate in December of 2009 and has gone to class twice a week for the past 4 years and has worked very hard. During that time we have heard a lot of “KeeYahs” and jumping coming out of her room. Before karate Maddie had tried a number of activities including gymnastics, dance, ice skating and soccer. Nothing clicked until she met Master Freddie and found a group activity where she could go at her own pace and earn frequent symbols of her success. For Maddie, Master Freddie was the perfect combination of nurturing and demanding. He set clear expectations, gave frequent constructive criticism, led by example and clearly communicated and physically demonstrated his expectations, all while never sounding upset or angry. The Karate Belt system, white/yellow/orange/blue/etc, created a real sense of accomplishment that helped keep Maddie on track. Her accomplishment let us understand that the right activity and the right teacher were critical to her success.
Maddie is “almost 13” now, growing up too fast, doing well in 6th grade and still trying to help us understand. Last night she told me “You haven’t been ready to hear this yet, but I think you are now. I wasn’t ready to be born when I was born. I didn’t go one month old, two months old, three months old and so on like other kids. I stayed zero until I turned four then I became one. That is why I didn’t eat, why I like playing with younger kids and why I act out sometimes. On the inside I am only eight.” I told her she should write a book, maybe then we can all understand.
Christian’s Story (4th in the world to be diagnosed)
The day I gave birth to Christian, 27 years ago, was the day the sun was brighter, life took on a whole new meaning. As I looked into his precious face, I could not help but see an angel looking back at me. As I watched him sleep, I slipped back into remembering the actual delivery. Now the labor part I was good with, the C-section without medication (the epidural did not work, and I felt the whole thing) was not so exciting, but one area kept bothering me; the fact that Christian came into the world quietly. I remember the doctor calling out to see if he was breathing, and the nurse responding with a calm “yes”. It was as if he entered into the world with his mind and eyes focused on the trip he just took and where the heck did he end up at. Fast forward to the days of knowing something was different, and reviewing every medical book I could get my hands on, the pediatricians I worked for agreed to give him a referral to the geneticist.
I remember sitting in the office waiting for the test results. In walked Dr. Robert Stratton, the highly intelligent and very informative geneticist. This man sat down and proceeded to plant in my head, the words I will never forget. It has been 19 years and I remember them like it was yesterday. He told me that he found a duplication on chromosome number 17 at the p11.2 location. This was located on the upper part of the right arm of the chromosome. Stunned at the finding, the first words out of my mouth were, “how did you find that?” The next was “what does that mean?” So he explained to me how difficult it would be for another doctor to find this, since not much happens on 17p11.2 that would describe Christian. He happened to be studying the opposite, Smith Magenis Syndrome (SMS) and thought he would take a look. He said looking for this is like looking for a tree that fell in a forest. He told me that it will be easier to find these issues when technology gets better.
So, on to the next question, what does this mean? Since there are only 3 other reported cases in the world, we do not know much. “WHAT, only three others?” He told me that one was a 42 year old man in Canada, who did not speak or read and was institutionalized. Another was a 9 y/o boy, in South America, who was self abusive. The other was a young girl and did not know a lot about her. So, on to what does this mean for my son? Dr. Stratton proceeded to remind me that there was not a lot of information out there and that technology was not up to a place that can tell us more. What he told me next didn’t really make sense when he said it, but it really makes sense now. He explained to me one of the jobs this area on the chromosome is responsible for. He told me this duplication will affect the migration of the cells of the cortex. As a nurse I could understand exactly what he was saying, as for my family, I broke it down. When the brain develops in the embryo in the uterus, the over 250,000 neurons (cells that transmit information) are formed. The neurons move to protective coverings and extensions and they continue to grow until around 20-23 yrs. of age. The brain begins to grow (the neuron/cells migrate) from the front of the brain to the back and then back again. Back and forth it goes. Dr. Stratton explains that this duplication affects the migration of the cells of the cortex (the large part of the brain) and it will migrate (grow and mature) at different rates, so it will cause delays and then spurts of development, depending on what part is maturing and what area of the brain will it get to (i.e. The speech area, the toilet training area, the walking area, etc) It is unsure at what rate, when the changes will happen and how long this will go on. Here is where I was unable to relate it to Christian at the time. I knew that he was diagnosed with delayed development, was in speech therapy at age 15 months to jump start a bit of babbling, rocked back and forth, sat with his legs in a “V” off the ground while balancing on his tailbone, but did not walk until very late. I did not have anyone to compare him to so I could see at what age things would be happening. Other parents had a child development chart to follow, I had Christian to watch and make my own chart. I knew he would accomplish all his developmental tasks, I just didn’t know when. I can now look back and see how he did have rapid growth spurts and delays all throughout his young years. They leveled out at puberty.
So, my next question was, “is there anyone studying this?” “No” the good doctor told me. He once again informed me that I would have to wait until technology got better and then he was sure someone would. This began the 6 years of calling in and waiting. I had the pleasure of meeting Dr. Jim Lupski (Dr. Lori Potocki was at home on maternity leave for her first child), who explained to me that this duplication is responsible for many more issues, which he needed to know more about, thus the reason for our meeting, as Christian was about to be the first child to go through the protocol to compare him to those with SMS, and learn a bit about this duplication.
So here is my thought; if this duplication affects the way the brain develops, then it explains why these kids have delays and followed by times of rapid growth, followed by delays. A child cannot perform physical activities (walk, talk, potty train, and feed self) and have cognitive abilities (which can be very advanced, even though they are not talking) until the brain has matured to that area of the brain that is responsible for that activity. It is a matter of waiting until this process is done to have an outcome.
Another issue I questioned was the connections in the brain. How were the “electrical” connections in there? I have spoken with people who will tell me that sometimes it seems as if they can hear the electrical “zaps” going on inside their head, and it is really irritating. They have to take a mild medication to stop it. I remember Christian getting an MRI when he was 2y/o and it showed “illuminations” on it. The doctor was not sure what they were and left it at that. Now I look back and wonder if it was like little “zaps” in his head, and maybe they were noisy, or the hypersensitive hearing, which distracted him. Maybe this is why some kids bang their heads, shake their heads or do other behaviors to try to quiet this? Hum…just a thought. Now, with medications, one doctor tried to get him on Ritalin, and this only caused him to become a zombie. Hyperactivity was never a problem, but focusing on a task was “a problem” according to the teachers. I later learned that he learned much better when he was able to rock and hum in class while he was learning. This did not go over well with the teachers, but I stuck to my guns and they learned to adjust. Christian learned better with some movement and poorly when he had to sit still. We had to modify the moving to a little rocking while in his chair, and hum quietly. When he did this, he was able to repeat details of all that was taught, and then some. Another thought, could these misfirings be the cause of the sleep apnea some kids have? The lack of concentration (ADD)? Again, just a thought.
I hope that this explanation of the brain helps shine some light on why your child is so unique. Their brains are busy growing, just at its own pace, but it is growing. Therapists could use this information as well. It could help them to understand your child better. Repetition, routine, and predictable outcomes is how they function best. Life will be easier if you can do this for them. These kids will show higher functions in areas that will stun their peers. They are unique, and in a good way!
Story of Diddy
A few months back, my wife and I were talking before bed. She wasn’t herself, she seemed down. It was one of those days for her. One of those days is when she couldn’t help but notice all the things other kids do that hers doesn’t. One of those days where she felt like the outsider parent because her kid is different. The comparison game is a slippery slope, before you know it you are “wadding in a puddle.” Wadding in a puddle is a term her therapist uses to describe these days. My wife isn’t lost forever, she’s just in a different place for the moment.
As I listened to her, I looked down at the bright green bracelet I wear on my right wrist. Our son Diddy is 2 years old. I know all parents feel this way but he’s the greatest kid in the world. His joy and happiness are unrelenting. His smile and laugh melt my heart. He lives the way we were meant to live.
Tuesday June 11th 2013 was a day I will never forget. I was home for lunch, finishing up an email. My phone buzzed in my pocket and I saw it was my wife. When I answered the phone, all I could hear was uncontrollable sobbing and inaudible screaming. I have never heard my wife like this. I feared the worst. I thought she was in a terrible accident. I made out the words “genetic testing”, “intellectual disability” and “Target parking lot.” I immediately got in my car and drove to her.
I spotted her car in the far end of the parking lot, isolated with no other cars nearby. My wife was down in the passenger side floor board, crying her heart out. The 15 minute drive home was surreal. The only word said was “why” in between sniffles and sobs. I honestly thought I lost my wife, I didn’t know if we were ever going to be the same. The truth is that we were never going to be the same.
The days that followed were extremely difficult for my family. We spent hours researching this rare genetic condition called PTLS. We had some of the biggest fights we have ever had. I hugged my wife when she didn’t want to be hugged. I prayed with my wife when she didn’t want to pray. Is this what a family falling apart looks like?
Less than one year later, the diagnosis seems like a lifetime ago. My family has come so far in that time. Don’t get me wrong, our life isn’t all rainbows and unicorns but I wouldn’t want it any other way. My wife continues to be one of the most courageous people I know. Our son continues to amaze us. We have been connected to some great people in the PTLS community who helped us more than they will ever know.
It’s funny, I don’t necessarily wear my bright green PTLS bracelet for other people. I wear it as a reminder to myself. When I look at the imprinted “unlocking potential”, I think of how Diddy has unlocked mine. He doesn’t see what I can and cannot do, he just sees me for who I really am. He sees the greatness in me regardless of my imperfection. As you work towards unlocking your child’s potential, allow them to unlock yours. Randy Dallos
Meet Nathan. Nathan was born in the UK and required medical care from birth. He was born with bilateral talipes (club feet) which were immediately strapped – later he wore special shoes, splints and plasters. He was difficult to feed, often vomiting his milk and needing to be fed again. In the first month of his life, Nathan needed 2 operations for hernias and a bowel resection. So it was a rough start. In his first year, Nathan failed to thrive; when he was 5 months old, formal investigations began in an attempt to discover why his development was delayed, but all the results came back normal. He continued vomiting for more than a year and had diarrhoea for 5 years. As a toddler, Nathan ate like a sparrow and would just throw his food on the floor. He was toilet trained at 5 yrs and dry at night by 8.
The provision in Scotland for Special Needs was very generous and so began a couple of years of intensive intervention with speech, physio, OT, the support of a preschool home visiting teacher, a teacher’s aide at Nursery, riding for the disabled and music therapy.
We moved to Australia when Nathan was 4. At this stage, his diagnosis was Global Developmental Delay, however he was then diagnosed with Autism and ADHD. He began Ritalin therapy and remains on this medication at present. He continued with another 8 years of speech therapy and OT. Nathan attended a mainstream primary school with a couple of hours a day teacher’s aide time; however his high schooling was completed in a Special Education Unit where we were delighted with his progress.
Nathan has always had a ready smile and a warm hug for everyone. It took a while to stop him hugging waitresses in restaurants but they didn’t seem to mind. Stranger awareness was such a challenge but that is much better now. Nathan’s obsessions have come and gone, however his fascination with airports, planes and cricket have continued through the years. As a family, we love to travel and Nathan prides himself that he has been to 14 countries – UK, NZ, USA, Fiji, United Arab Emirates, Spain to name a few.
In the past few weeks, Nathan has been learning to travel independently on trains and buses and is looking forward to his first flight interstate alone next month. We are presently trying to teach him to shave himself, having mastered most other self help skills. Shoelaces are a work in progress.
Nathan was diagnosed with PTLS 2 years ago when a new paediatrician suggested the test. We were thrilled to finally know why Nathan had struggled with so many things. He was very excited to learn the diagnosis and has since adopted the nickname ‘Lord Lupski.’ After finishing school last year, he enrolled in a 2 year Transition to Work Program which will train him in job skills and through work experience, hopefully help him secure a job. Nathan is now 19 and continues to progress and learn new skills. His quirky ways come and go and I have learned to accept them rather than continually try to redirect them (often fighting a losing battle). I guess it doesn’t matter that he regularly gets up at 4.30am! So long as he doesn’t disturb me. 🙂
Ian was diagnosed at age three weeks old, with a normal pregnancy and a very difficult labor resulting in emergency C- Section. His kidneys were very small and took a hit during labor. He was born with a positional clubfoot. He also did not have the suck reflex to breastfeed or drink from a bottle. All of these factors led to a month long stay in NICU. General diagnosis: Failure to Thrive. Initial genetic testing came back negative but we pushed for more testing and eventually the Geneticist found the Duplication, but had no information on it.
He had a weak immunity as a baby/toddler. Simple colds would last weeks, or turn into pneumonia or RSV. He was extremely hypotonic and didn’t sit up or crawl until 9 months old and eventually walked at 18 months. Sleeping has never been an issue, but feeding was a major struggle. He would gag very easily. He ate baby food, oatmeal, yogurt, and Pediasure the first 3 years. Then, all of a sudden, he started trying new foods like pasta, fruit and veggies. His club foot straightened, his immunity improved, and we have come to accept that Ian does things on his own time frame. Not ours.
Ian does not yet speak. He uses sign language and graduated from a PECS book to an ipad program called Proloquo2Go. His receptive language is really good and we know speech will come. I have never been surer of anything than knowing that someday I will hear his beautiful voice say “Hi Mom”.
Ian is in a full day Special Education class in a public school. Initially, I ignored the knot in my stomach, and signed an agreement unsure of his educational goals were appropriate and uncertain if his therapies were enough. It was in speaking with another PTLS parent when I realized Ian wasn’t receiving anything close to the services that child was getting. She had an Advocate, so I hired one, too. It changed our lives. She helped me find my voice.
He now receives 2 hours speech therapy in school, and two hours private PROMPT Speech Therapy a week. He gets 10 hours in home ABA a week and now has an ABA trained Aide assigned to him full time at school. He gets OT, PT, and Adaptive PE as well. After attending the PTLS Conference in Houston in 2012, we had his heart checked out and found that he has an enlarged aortic root.
He is seen by Nephrology for his low functioning kidneys. However, that doesn’t paint a picture as to who Ian is. Ian is a boy who loves swimming, soccer, Monster Trucks and motocross. He loves French fries. He loves to drive in the car with the windows down. He’d rather eat a cherry tomato than a piece of chocolate. He cries when his brother cries. He thinks America’s Funniest Videos is the best TV on Earth. He loves a good tickle. He doesn’t know what it is to be mean or grumpy. He loves slides. But the best thing is….He is happy. – Stacey (Mom)
The joyous giggles that burst from this special child are more precious than gold. The bond he shares with his six-year-old brother — evident by a unique, loving look saved only for him — is magical. The journey to this point has been difficult, filled with five hospital visits, an endless search for information and assistance, constant worry and fear. But the journey has taught us so much about life, and what is most important. Our lives are richer, and we are grateful. Austin is an incredible gift! We are hoping his story is helpful. We look forward to learning from and sharing with other PTLS families as we continue on this journey into the unknown future.
Pregnancy: Why Is My Belly So Small?
During my 20-week appointment, we learned that Austin’s growth was abnormal; his legs were two weeks behind his body in size. Two weeks later, the legs had caught up, but his overall body size was small. Between weeks 26 and 36, Austin did not grow much (intra-uterine growth retardation), and people were always commenting on my small belly. At my 36-week sonogram, he was estimated to be 4lbs 12oz. The doctor wanted to do an immediate C-section. Austin was born October 5, 2009. He was 5lbs 5oz.. , 19 inches, and very, very skinny.His first challenge was combating terrible jaundice, but he responded to light therapy. He was incredibly sleepy; it was nearly impossible to wake him. He did not seem to want to eat, and when he did he was exhausted afterward. He never latched well, which was completely foreign to me since his older brother was such a great eater. I sought help from many different lactation consultants and tried all kinds of techniques and accessories to help him feed. This was the beginning of the now well-worn-out phrase in our house, “How much has Austin had to eat today?”
What is Wrong with this Baby? Part 1
We were home from the hospital less than 6 hours when Austin’s lack of interest in eating and intense sleepiness became serious. He also was cold. Even wrapped in warm towels from the dryer and held against my chest , he had a rectal temp of only 94.7 degrees. Our doctor told us to go to the ER immediately. Austin was in the hospital for 10 days. In the pediatric ICU, he was unable to maintain a constant body temperature. On day 4 he miraculously stabilized and they moved him to the general children’s floor. They ran many tests and asked us many questions, recording all data. But we never got a definitive diagnosis. The team of doctors suspected an infection, but because the original spinal tap done in the ER was terribly botched and the small urine and blood samples never grew anything in culture, we never really knew what had happened to our baby. As he improved in the hospital, he continued to be sleepy and disinterested in eating. We continued to consult lactation, and I spent endless hours on the breast pump. We left the hospital still wondering, “What is wrong with this baby?” While hospitalized, Austin showed initial signs of GERD (reflux), which his brother had had as well. He was put on Zantac.
What is Wrong with this Baby? Part 2
Feeding problems continued, and the Zantac did not work well. Working with the same GI doctor who had helped our older son, we tried Pepsid and Prevacid. Neither worked. Finally we put him on Prilosec (which his brother had been on as a baby), and this helped keep down the little breast milk that I could get into Austin. By week six, Austin seemed to exhibit signs of intense colic, screaming for hours on end. I had eliminated anything that I thought could be troublesome in my diet. Yet, the challenges continued. His poor latching worsened. He developed terrible diarrhea. He was hospitalized for failure to thrive, and again, the doctors ran many more tests. They still found no answers to what was wrong with our baby. We did discover that he could keep down and digest Alimentum formula. Our GI doctor encouraged me to stop breastfeeding, since it was causing problems and made it difficult to keep an accurate count of the volume that our little guy consumed. It crushed me to sever the breastfeeding relationship, particularly because I worried my little sickly guy needed as much immune support as possible. But when I could see his suffering eased with the formula, I was heartened. We left the hospital hoping that we now had found the key to our little guy’s growth and development.
Finally a Diagnosis!
Despite the switch to formula, Austin continued to eat very little. We tried different positioning, feeding timings, bottles, nipples etc. We consulted speech therapists who specialized in feeding issues. Our amazing pediatrician kept saying, “what is up with this little guy?” She referred us to a genetics specialist when Austin was 4 months old. The geneticist originally thought Austin had Russel Silver Syndrome, a form of dwarfism. He had many of the characteristics (e.g., hypospadius, a bit of facial asymmetry, slightly curved pinky fingers, low weight-for-height, and feeding problems). But the genetic tests revealed the answer: Austin was a member of the very special Potocki-Lupski Syndrome (PTLS) family.
Since his diagnosis, Austin has received weekly physical and speech therapy. He receives bi-monthly therapy through our county’s Infant and Toddler Program. On our off weeks, I take Austin to private therapists.We have witnessed amazing results and development. For example, when he started physical therapy, Austin could not find his midline. He seemed to be unaware of his feet. His head bent to the side (tortacollis). Two weeks later he was grabbing and chewing on his toes! About a month later he could hold his head straight and had good range of motion. Speech has helped Austin gain confidence with food (he is very protective of his airway because he has choked so many times while eating), helped increase his food intake, and moved his very sensitive gag reflex back further in his mouth. We have worked with Austin’s GI doctor, a nutritionist, and his speech therapists on his diet. At 10-months old, he is on a 30-calorie-per-ounce mix of Alimentum formula. He eats about 20-24 oz a day. He eats a wide range of pureed foods, all of which I make at home. He consumes about 12-16 oz. of purees a day. He will gnaw slightly on a graham cracker or biter biscuit.Austin does not at this point exhibit many social or cognitive challenges. He is a flirt, makes good eye contact, laughs, tries to get others’ attention, and has even acted jealous (fussing) when his brother pays attention to other kids in his daycare. He started making clear vowel-consonant combinations (mama, baba) at 9 months, but they are limited. He laughs a lot and goes “ha!” all the time.
Austin can now sit unsupported for long periods of time. But his upper body is very weak; he cannot push himself back up when he falls. He hates tummy time –even when placed on softer surfaces and exercise balls. He is nowhere near crawling. He does not roll over. He does not tolerate any texture in his purees, gagging at the littlest chunk. He cannot suck from a sippy cup. He hardly ever holds the bottle, and when he does, he cannot tip it. Despite increases in his reflux medication, he continues to throw up. Often it is very violent — much more than I ever remember his brother experiencing. His eyes roll back into his head before he vomits, and the food sprays out his nose and mouth. This is then followed by intense hiccups and screaming. Austin has been hospitalized on three separate occasions for dehydration associated with stomach viruses. He suffers from terrible constipation even though he takes two teaspoons of Miralax a day.
Our Little Riddle
Austin Garrison Riddle has taken us on an amazing journey. We are lucky to have a great care team of doctors and therapists. We are particularly grateful for our caring and determined pediatrician. Our family and network of friends have been sources of comfort and support. Prayer warriors –some we have never met but are friends of our family — sustain us by keeping our family in their prayers. We are so blessed to have both Austin and his patient, loving, and gentle older brother Kristofer in our lives.