At some point virtually every person will require the care of a health care specialist. Most only have to interact with these types of doctors a few times throughout their lifetime, but parents with children who are medically complex with severe special needs interact with these types of specialists hundreds of times. In my case, because I have a child with ADNP Syndrome. I have gone periods of time where I have seen specialists and sub-specialists daily. I’ve had great doctors who are kind, compassionate and interested in learning about my sons rare genetic neurodevelopmental disorder and others who have a god complex and should not be working with children at all.
Yesterday at my child’s follow up with the surgeon who saw him in the hospital, I experienced two of the biggest ASSHOLE doctors that I have ever met in my entire life and I am unsure how to even address it – I know it was unprofessional, but was it unethical?
I think that I have reasonable expectations for the way people should be treated by health professionals – before, during and after their treatment. Two of those reasonable expectations are professional and ethical. So let me tell you what has led me to this conundrum.
Last week Tony started to have violent episodes of head shaking in his bed and would not sleep a wink for an entire night and he was holding his head like he was in great pain. I took him to the ER and luckily I had the good sense to record the episodes in bed and the doctor agreed that they looked like abnormal seizure activity, which is common in children with neurological disorders. We thought that he had an ear infection because he was holding his head, however his ears looked perfect. He had no fever and was happy every other second of the day, except when he was having head pain. This doctor referred us to follow up with Tony’s Neurologist but also noticed that he had a small bit of redness on the side of his thumb nail. She said it was called Paronychia, which is an infection that usually gets into a person’s system around a nailbed when there is an injury such as an ingrown hangnail or torn cuticle and it usually becomes a red inflamed blister that needs to be popped. Although I did not know the medical name for this, Tony has had this happen to a nail a handful of times and we treated it and it went away. The ER doctor said that it looked like Tony might have had the beginning of a Paranychia on his thumb and because he puts his hands in his mouth so much, she wrote him an antibiotic prescription.
The very next day Tony’s thumb started swelling up like a balloon. By the end of the day it was red and it was starting to turn green behind the nail. I was told to bring him back to the ER and when I did, we saw a new doctor who immediately told me that this was extremely serious because it was now moving down his finger. She brought in a team and they sedated Tony and drilled a hole through the nail in the hopes of draining some of the infection. She wrote us a prescription for a stronger antibiotic and sent us home with instructions that if he continued to swell, became more red or if he got a fever, that we were instructed to take him to Doernbecher Children’s Hospital because she was concerned that the infection was moving into his tendon.
The next day his finger remained red and swollen and he had a low grade fever so I took him straight to the Doernbecher E/R where they immediately got him started on IV antibiotics. A very nice and informative doctor told me that this kind of infection can quickly move into the tendon or bone and that he was admitting Tony into the hospital for a course of 24 hour IV antibiotics and he wanted to get labs, xrays and have Tony seen by the hand surgeon immediately in case they needed to go in and surgically clean it out.
On day two of our hospital stay, my family came to visit and I went out to lunch with my daughter while my husband and my Mom watched Tony. During that time, the reconstructive hand surgeon Dr. Chang Shiliang came to examine Tony. My husband had her talk to me on the phone since I was the one handling this, and she told me that it did not look like Tony had to have emergency surgery. She said to see if the antibiotics work and that she was going to have one of her team members make a splint to keep Tony’s finger out of his mouth while it healed. She also told me to soak it 4-5 times a day until it looked better.
When I returned back to the hospital there was a doctor there who was trying to build a custom hand splint for Tony. I tried numerous times to tell her that he had a HORRIFIC sensory processing disorder and that he completely wigs out when anything like a bandage is on his arms or legs. She made the first little thumb splint and it took Tony all of about 3 seconds to pull off. She made another one, he pulled it off. She then started molding a larger one that would go down his wrist and arm and he pulled it off. She worked again on a 4th splint, making it larger with more wrapping and more tape and it was now the size of an adult cast. Prior to her finishing, I told her, “the doctor said we had to soak his finger 4-5 times a day, how on earth are we supposed to take that off and on” and she said “just soak it once a day, it will be fine”. (RED FLAG #1) As she finished up this splint I could tell she was frustrated and when he pulled it right off, she got up, cleaned up the mess, told me “you are going to just need to try to keep his finger covered while it heals” and left.
Once we got home, we have been diligent at taking very good care of Tony’s finger. I have soaked it, I have tried to keep small snug bandaids over the finger while it was draining out of the hole, and it has virtually healed up in a matter of days and looks very very good. He has been taking a new antibiotic and has been a very happy boy and his finger was no longer swollen, red or oozing and I was very happy to see be seeing the hand doctor because his fingernail was falling off and I was hoping that she would be able to clip it off since it kept snagging on his clothing, etc. But all and all, it looked like the infection was gone and that it was healing well, so I was very happy.
So yesterday we had our “followup” appointment with the hand surgeon at the plastic surgery office of OHSU. It’s summer vacation so I had to bring along Tony’s twin brother Rocco and sister Sophia. They were sitting on two chairs in the exam room and Tony was right next to them in his stroller. In walks a tall young man who introduces himself as a Resident and an older woman who walks in and immediately after looking at Tony barks at me “I told your husband and your mother that he cannot suck on his thumb”. I explain to her that her staff told me that I just needed to keep it covered until it healed after they failed to build him a splint like she told me they would be doing. As I was explaining to her that I I thought it was healed enough and the fact that Tony kept sucking on the bandaid making it wet and saturated, I thought it would be better to let it get air rather than sitting in a soaking wet bandaid all day, the resident started barking at me, “do you want him to loose his finger”? Not only was I shocked, I could see Rocco and Sophia, who were already unconfortable get very scared. I tried to diffuse the stupid remark from this Doogie-Howser aged doctor by explaining to them both that Tony had a severe sensory processing disorder and that we have been trying for years to keep his fingers out of his mouth and that I have tried rubbing the No-Bite nail product to his entire hand many times and he just gags and keeps on doing it. The Surgeon barked at me again, and told me that I have not been trying hard enough and that I needed to use “chili powder”. She said that to “get a bowl of chili powder and ‘dip’ his entire thumb into the child powder and once he tastes that he won’t put his finger in his mouth”. At that point I tried to explain that I had been working with Tony’s sensory therapist for years over his oral sensory seeking issues and we had tried many things but that she informed me long ago never to use chili powder because it could get in his eyes. I then explained that one of Tony’s sensory ticks is that presses his finger into the corner of his eye all day long because it gives him sensory input (makes you a bit dizzy). In fact, he was doing it as I was telling them this so I was able to directly show them. This doctor then proceeded to tell me that “chili pepper will not hurt his eyes”. I told her that he is cognitively like a one year old and that he isn’t going to understand to keep his fingers of his eyes if he can’t understand to keep his fingers out of his mouth and she said “if you want to stop him from sucking his thumb, you need to dip his entire finger in chili powder and it won’t hurt his eyes”. Before I could even get out a “are you kidding me” the resident chimes in and says “do you not understand that your child is going to loose his finger? “ He goes on to say “I see he is playing on his iPad, do you know how much he needs his thumb to maneuver the iPad? If he loses his thumb he won’t be able to use his iPad and this will affect the qualify of his life quite a bit”. THE SCARE TACTIC, REALLY???? He then proceeded to say “if it doesn’t happen now, it will happen in the future”. At that point, both of my kids eyes are as wide as an owl, Tony is sitting there giggling away listening to music, and my head is about to explode but my kids are in the room so I am TRYING to not go all Honey Badger Crazy Mommy on them so instead calmly say “first, are you saying my child is going to loose his finger with now or is his finger ok now?” They say it looks ok now (but they have not examined his hand). I then say “in a world of no bad ideas, and considering that this child has horrific learning challenges and extreme oral sensory seeking behaviors and other than casting his arms, probably will have a hard time not putting his fingers in his mouth. Couldn’t we just say that perhaps since I now know that this type of infection can be very bad for someone like Tony, but can be treated by an antibiotic…. Couldn’t we just try to be even more hypervigilant and watch his fingers so in the future, if he starts to get any red on a finger around a nail, that I take him straight into the doctors for antibiotics?”. The resident tells me again “if you can’t get him to stop sucking his thumb he is going to loose his finger”. I then say “are you referring to his figure now – because it looks ok to me, is it not ok”? At that point the surgeon walks up to Tony, bends over, looks down at his hand and says “it looks good”. The problem there was that his injured thumb was wrapped around the handle of the iPad and she LOOKED AT THE WRONG FINGER! I was so livid that I was about to go polar but my kids looked petrified so I said something to the lines of “are we all done” but I actually can’t remember what I said but they walked out and no one even gave us any paperwork and they never did an examination on his finger. The moment they left, Rocco who was holding back tears said “is Tony’s finger going to fall off?”
So, my question is, unprofessional or unethical? Between the asshole resident playing the whole scare tactic and reading me the riot act that my child was “going to lose his finger” repeatedly in front of the other kids, severely scaring them, or the repeated direct instruction to dip my child’s finger in Chili Powder by the doctor knowing it would go in his eye (which by the way, if a parent willingly caused physical harm of that type to a non-verbal cognitively delayed special needs child could get arrested for child abuse), I am absolutely uncertain how to handle this and who to address it with. They never even examined his finger, never addressed the nail falling off and never took a good enough look to tell me how to treat the nail falling off. Even my 12 year old daughter said “that was a waste of time, they didn’t even look at Tony. Neither one of these doctors should be allowed to work with children, especially special needs children, nor should the surgeon be “teaching” residents.
Now, he has ripped his nail almost off, I have clipped it and there is a huge gaping hole and I am not sure what to do because he keeps putting it in his mouth. I have half a mind to drive him to the OHSU E/R and tell them to cast his harm because I am being threatened by their damn doctors that my child is going to loose his finger, they didn't examine it, and now there is a gaping hole!
I think I should call one of those news station programs that help people and we should all take a trip to visit the doctor next week with a great big bowl of chili powder and ask her to rub it in her eyes. I wonder, can I do that?
Life is hard enough when you have such a medically complicated child so when unprofessional idiotic doctors make it harder, I just want to scream! So I am asking, what should I do?
Early diagnosis is key for the management of AUTISM and most children are not diagnosed until their 3rd or 4th birthday. April is AUTISM Awareness Month. Here is a story that I wrote for Spectrum Magazine about a unique physical biomarker that will help diagnose some children with a rare genetic condition linked to AUTSIM before their “1st” birthday.
Parents, Precision Medicine, Genetics and Autism - The discovery of an early-age biomarker for a rare syndrome highly linked to autism.
April 1, 2017
By Sandra Bedrosian Sermone
What does a parent have to do with precision medicine, genetics and autism?
If you would have asked me that question three years ago, I most likely would have said absolutely nothing! But today, my answer is absolutely everything!
One of the hottest topics in Precision Medicine these days is research for biomarkers. The search for the discovery of valid biomarkers enables early and more targeting methods for diagnosis and intervention. Physical biomarkers that can be seen on a patient that are easily identifiable are very helpful because they are non-invasive indicators of a specific condition or disease. In this case, a gene mutation highly linked to autism.
In a publication by Autism Speaks, it was noted that as much as ½ of all autism cases are caused by rare gene mutations. Genetic autism research projects which collaborate with hundreds of institutions worldwide, such as SPARK for Autism and MSSNG, are currently going on to understand the genetic influence of autism. These are huge international studies, focusing on hundreds of known linked genes. This has become so important and relevant that many top genetic testing laboratories, such as the US based company GeneDx, have recently created individual molecular genetic testing panels for specific known variants highly linked to Autism, including the mutated gene that my son Tony (aka Superman) was diagnosed with in 2014.
Tony underwent 6 long years of expensive traditional single gene genetic testing before he was finally diagnosed with one of these highly linked autism genes. Using Whole Exome Sequencing (WES) at Duke University, the genetic program led by Professor Nicholas Katsanis, found that Tony had a de-novo gene mutation on his ADNP (Activity-Dependent Neuroprotective Protein) gene. The medical odyssey and long list of medical conditions that Tony suffers from is detailed in a Journal of Molecular Neuroscience publication entitled “The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation”. 
Tony’s mutation to his ADNP gene caused an extremely rare genetic condition called ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome). In Tony, this complex neurological development disorder affected his brain formation and development as well as many other areas and functions of his body, including neurological, cardiovascular, endocrine, immune and gastrointestinal systems, as well as his vision, growth, feeding and sleep. He has gross motor, fine motor, oral motor, intelligence and speech delays. This syndrome also causes behavior disorders such as Autism. In fact, ADNP Syndrome is highly linked to autism and it is one of the most frequent ASD-associated genes known to date.
It is well-known that a major flaw in autism management is late diagnosis. Tony, who is now 9, displayed many autistic traits well before his 3rd birthday. As a baby and young toddler, he had an extremely happy and excitable demeanor with frequent smiling and laughter, similar to those with Angelman Syndrome. Because he was also so medically complex with severe developmental delays, Tony was not diagnosed with autism until he was 6 years old. I fought for years to have my son diagnosed, but I believe that because he had a rare and ‘undiagnosed genetic syndrome’, his doctors could not separate the two and correctly evaluate him. Because of this, he lost many valuable years of early intervention specialized therapy when his young brain had greater plasticity that could have resulted in much better outcome for him.
One of the most heartbreaking parts of a late diagnosis for a child is that early intervention is key! Had we known about this syndrome when Tony was a baby, he would have been able to start specialized therapy at a very young age, which is extremely important with conditions like autism, developmental delays and absent speech. The specialized therapy he received after his autism and genetic diagnosis has been life changing for him. This has been a very hard pill to swallow as a parent, knowing my child could have started aggressive therapies sooner had he only been diagnosed at a younger age.
So how did this lead to discovering a biomarker?
In autism, including the many hereditary and de-novo genetic cases, there seems to be very little identifiable simple physical biomarkers. In recent studies, MRI’s are being used to look at brain imaging for diagnostic biomarkers which are showing some connections to autism, as well as many studies on blood tests looking for potential links to the condition. However, these can be invasive, very expensive and these are certainly not easily identifiable simple physical biomarkers.
For Tony’s condition, there were no known biomarkers. He was the first child in the world diagnosed following the discovery of the ADNP autism-related syndrome. At that time the team at Duke University knew very little because they had never seen anyone with this condition. The syndrome had NO name, there was NO place to find support, NO place to connect with other families, NO medical protocol, NO treatments, NO cure and NO information for to understand what this diagnosis meant for Tony.
Enter “Parent-Powered Precision Medicine Researcher” to the story. That is exactly what myself and many other families of children with unknown rare disease get themselves into, where parents are emerging and becoming the driving force in rare disease research. We are connecting the dots and fueling advancement that would normally take 5-10 years in a traditionally ran research lab. We are helping to advance science because we are highly motivated to help our children and know our children better than any clinician ever could. This is parent driven research, a culture shift where parents feel empowered intellectually to lead in precision medicine to accelerate research for their child’s rare disease.
As soon as I received Tony’s diagnosis, I went home and began investigating this unknown rare syndrome by researching and reading every medical publication, manuscript, journal and study linked to the ADNP gene and other known genetic caused autism-related syndromes. I like to joke and say that I a “crazy obsessed, highly caffeinated, middle of the night, internet stalking, genetic researching, ADNP detective”. My slogan became “a worried mother does better research than the FBI”.
But it didn’t end there; I also started contacting clinicians from around the world and began searching for other families. I created a Facebook parent support page to connect these families. I wanted to let families know they were not alone and help with understanding of the syndrome so I created an ADNP informational website called ADNPkids.com. This website really helped me to connect with families as soon as they were diagnosed because doctors from all around the world were directing them to it since it contained the most updated and accurate information available online.
As our ADNP community grew, so did my knowledge of the syndrome, I started to identify that these ADNP children shared much more medically complex conditions than currently known. I began to collaborate with medical research teams and started a parent/patient generated database. I built my own registry/study in the hopes that I would find ways to help our ADNP children. One of my biggest hopes was to find something that could help children get diagnosed at a younger age. Thanks to the internet, which I refer to as my “Google School of Medicine”, to all of the amazing ADNP parents who answered by many questions, to the open minded clinicians and researchers who saw the value of parent involvement in research, and an endless supply of Stumptown coffee, I actually discovered something pretty awesome!
THIS NEW PHYSICAL BIOMARKER ISN'T SEEN IN ANY OTHER SYNDROME IN THE WORLD, making it unique only to ADNP Syndrome. Just as exciting, this biomarker is extremely easy to see, can be identified at an extraordinarily young age, (on average between 11-12 months old), requires no invasive testing, no complex or expensive scans, and believe it or not, it is cost- free! - It is simply, and most surprisingly, BABY TEETH!
I discovered that a large percentage of children with ADNP Syndrome had “early tooth eruption”. Not just teeth beginning to crown but a full mouth of teeth, including molars. My son Tony at 12 months had 16 teeth. This was so crazy to us because here was our little baby boy with a full mouth of teeth that could probably chew a steak, yet the irony was he had a feeding tube because he could not chew or swallow to eat”. After presenting this several times, I eventually convinced an international team of ADNP researchers, led by world-renowned neuroscientist and geneticist Professor Illana Gozes at Tel Aviv University in Israel, to do further scientific investigation. Together with an ERA-NET NEURON grant, the team discovered premature tooth eruption as a probable early diagnostic biomarker for the ADNP related autism disorder.
Our manuscript, Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children was published in the Nature journal Translation Psychiatry on Feb 21 2017. In this study, children with ADNP Syndrome were reported to have an almost full erupted dentition by one year of
age, including molars in an astounding 81% of the patients. It's the first of its kind linked to an extremely rare neurological disorder caused by a mutation to the ADNP which is highly linked to autism.
The team investigated by looking at ADNP-deficient mice (a model developed by the Gozes laboratory), by computed tomography (CT). This showed significantly smaller dental sacs and tooth buds at 5 days of age in the deficient mice compared to littermate controls. There was only trending at 2-days, implicating age-dependent dysregulation of teething in ADNP-deficient mice.
Also looking at the genes that are expressed in human ADNP-mutated immortalized white blood cells (lymphoblastoids), whole mouse embryos and mouse brains identified dysregulation of bone/nervous system-controlling genes resulting from ADNP mutation/deficiency. The gene A-kinase anchor protein 6 (AKAP6), discovered here as a major gene regulated by ADNP, also links cognition and bone maintenance.
This is the first time that early primary teething is associated with the ADNP related autistic disorder. Early tooth eruption is not seen in any other known genetic syndrome, which makes available an early and simple diagnosis tool and paves the path to early intervention and specialized treatment plans.
* I am a true believer that parents can do great things for our children if we work together. Find a community of other families with the same condition and start working ‘with’ your child’s doctors. If you have a complex child with a rare disease, don’t stop looking for answers. Reach out to researchers and you will find that they need your help. Keep fighting for your child, even after a diagnosis because you never know what you might discover and who you might help!
FOR MORE INFORMATION ON ADNP SYNDROME (HVDAS)
For more information visit www.ADNPkids.com or email ADNPkids@gmail.com.
https://themighty.com/2016/10/parenting-a-child-with-adnp-syndrome-what-to-know/ (Why my son with ADNP Syndrome is just like Superman)
Last night I chatted with a Mom that contacted me because she has a child who is undiagnosed. Her doctors gave up looking for answers. Few would understand what that feels like, and there is no polite way to say it; but having a medically complicated ‘undiagnosed’ rare disease/syndrome child SUCKS! Yes, I said it! It’s not a blessing, we are not stronger than other parents, there’s nothing positive about it. We become stressed out, tired, isolated, fighting, detective super-parents. Not by choice, not because ‘we’ are special, but because we HAVE to be. If we don’t fight for our children, then they get tossed into the “undiagnosed abyss”. These poor kids and their parents have to deal with unbelievable medical conditions, birth defects, surgeries, tests, scans, doctors, specialists, therapists and so on…. And when standard tests can’t determine what is wrong, they tend to be given up on.
So this got me to thinking about the epic failures in our medical system and the fact that most people have no idea just how incredibly hard it is to have to fight to have your child diagnosed. Did you know that 1 in 10 Americans are living with rare diseases and the rate of getting an accurate diagnosis is very low. 80% of all rare diseases are caused by faulty genes, so finding answers is NOT impossible. Families should not have to fight to find a diagnosis, and these children shouldn’t have to suffer because they are missing valuable treatment they might not have without a diagnosis!
This is what we experienced with our son Tony who is now 8 years old. When he was born along with his twin brother, his doctors heard a heart murmur. After a heart scan they found 4 heart defects requiring surgery. Because the defects were so rare, we were sent immediately to Genetics. We had no family history of any problems so we thought it must be something fluke and that these doctors would be able heal our child. However, over the next few years it became evident that Tony has something extremely severe. He started requiring more surgeries and month by month we would receive a new diagnosis. The list consisted of things like; multiple Heart Defects, multiple Brain Abnormalities, Delayed Milestones, Failure to Thrive, Severe Cognitive Delays, Gross Motor Delays, Fine Motor Delays, Non-Verbal, PDD, Autism Spectrum, Cerebral Palsy Spectrum, Mixed Receptive-Expressive Language Disorder, Phonological Disorder, Motor Skills Disorder, Sensory Processing Disorder, Hypotonia, Gastro-Esophageal Reflux Disease, Hyperactive Gag Reflux, Frenulum Linguae, Oropharyngeal Dysphagia, Feeding Difficulties, Un-descended Testicles, Bilateral Cryptorchidism, Congenital Hernia, Cortical Vision Impairment (CVI), Disorder of Visual Cortex, Delayed Visual Maturation, Irregular Astigmatism, Hyperopia, Unspecified Disorder of Refraction and Accommodation, Strabismus, Central Nervous System Disorder, Hydrocephalus and the list goes on and on….. Shocking isn’t it! Now imagine not one doctor being able to tell you why this was happening to your child. The pain and stress is indescribably.
Tony went through almost 6 years having single gene genetic syndrome tests. We began to watch our doctors giving up on him. These doctors told us to go home and forget about ever finding a diagnosis! They told us that Tony had something “rare” and “unique” to his genetic makeup and that we would never find out what was the cause because it was unique to him. Meaning we would never know what his future looked like, if he would live or die, if he would continue to get worse or even if this was something that could affect his twin brother. After we discovered that Tony had a mild loss of brain volume (atrophy), we decided that we were not going to give up searching for answers. After multiple requests and being denied WES (aka Whole Exome Sequencing) by our insurance, we went out on our own and found a study at Duke University for undiagnosed children. Within a matter of months, Tony was diagnosed with a mutation on his ADNP gene which causes ADNP Syndrome (aka Helsmoortel-Van Der Aa Syndrome). Our doctors wasted 6 years and a single WES-LDT test diagnosed him within a matter of months.
He has been diagnosed for a couple of years now, and I have been able to meet many parents who have children with the same syndrome and the one consistent thing I hear is how hard it was to have their child diagnosed. I hear over and over how parents are told “the symptoms do not match any known disorder or syndrome”, or “this is unique to only your child”, or as one parent said, they would treat it as it was the “insert childs name here - syndrome”. As we now know, that simply isn’t true. These kids have a mutation on their ADNP gene causing a genetic syndrome shared by 83 other known children around the world. All of these families have been on the same journey of having a medically complex child and the painstaking task of finding a diagnosis and many of their doctors gave up finding a diagnosis.
Only those who fight for WES or those who are lucky enough to have that rare wonderful doctor who goes the extra mile are getting diagnosed. Not just ADNP kids, but all medically complicated undiagnosed kids are being given up on. This is simply unacceptable! These kids are getting screwed! Tossing a child into the “undiagnosed abyss” is unacceptable. There are ways to get answers such as WES and the attitude that “nothing will come up if WES is performed” is unacceptable. That is what they told me and now I know my child has a genetic syndrome that is now thought to be the top gene mutated in Autism. It’s a shame and one I hope the medical community wakes up and takes notice. WES CAN lead to accurate diagnosis, resulting in appropriate and successful therapeutic intervention which is the major goal of precision medicine. My son is getting treatment that we would have never discovered without a diagnosis, and Whole Exome Sequencing is what gave us that diagnosis! So if you have a child who has a rare undiagnosed disease/genetic syndrome, don’t accept “undiagnosed”! Get a new doctor, start looking for research studies, call NIH, or look up organizations like SPARK, Global Genes, NORD and #curesnow. Our children should not be left undiagnosed.
To read more about ADNP Syndrome (aka Helsmoortel Vander Aa Syndrome), go to www.ADNPkids.com.
MY MOTOR-PLANNING MAN – Difficulties with Speech
My name is Sandra (aka Mother ADNP) I am Mommy to Tony, Rocco and Sophia... and Daddy (Rich)