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 name is Sandra (aka Mother ADNP) I am Mommy to Tony, Rocco and Sophia... and Daddy (Rich)