A syndrome is a group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms. A disease is a known medical condition(s) that are associated with specific signs and symptoms. As a parent when your child is first diagnosed with a genetic condition, more specifically a large megabase deletion, the tendency is to solely focus on the syndrome. You will most certainly look for cures, prognosis and an overwhelming desire to wake up from a nightmare. Entering the Realm of Complex Medical Challenges Up until this point in your life you may have been blessed with very simple medical issues. Maybe you have had a bad disc in your back that you had surgically repaired; or a broken arm that needed setting. It is only natural that we would search for the next steps to cure this syndrome. A progression of any illness is to see a doctor, perform diagnostics, receive a diagnosis, and implement an effective treatment plan.
Receiving a genetic abnormality diagnosis for your child you will soon see that the entire medical field is in uncharted territory. The realization that your own genetic counselor will need to look up the syndrome because he or she has never heard of it, much less treated the issue. Effectively, regurgitating all that you have already discovered on Google. It’s very scary!
Facing the Unknown with Confidence
As a strong confident man, who grew up in a medical family, I am very aggressive in searching for the very best treatment, approach, and taking little to no medical nonsense (i.e. Insurance, Treatment Delays). While my medical knowledge is equivalent to having stayed in a holiday express last night, my father, a physician, has given me the ability to cross the chasm from being a scared parent to a mini-ER doctor. There have been times when I was in the ER in the trauma room with my daughter and I was controlling the room. I recollect on one occasion my daughter was having a nasty seizure, and we were rushed to the closest hospital to my home. Being sent to the closest hospital is often a very bad sign. We were rushed into the trauma room as she was vomiting; vomit filling her throat and nose with fluids, causing her airway to be blocked. I stood very close to her, watching her face and the monitor as if I had been to medical school and finished residency, with the confidence of a soldier in battle.
Around me stood in complete stillness, easily 12 nurses, with no physician as I recall. I was astonished that no one was moving. When you are in a life-threatening, or emergent issue in the hospital there is a recipe. What ER doctors essentially do is perform the recipe that they have trained many years learning, if it works, it works. On that day what I saw was no organization, no monitoring, no action. Suddenly I saw my daughter’s oxygen saturation levels dip to 60% and her lips became blue.
Suddenly I burst into action, and I was not nice. One thing you may find when it comes to seeing your child in distress, when someone gets in your way, the medical courtship of being kind, understanding and appreciative goes right out the window. I yelled “Her saturation level is at 60”, and the nurse replied, “Oh don’t worry those monitors always throw false readings.” So, I said “She is cyanotic look at her. Get me the suction and do your job.” The sheer volume of my voice made the room move very fast. They got me the suction, I suctioned her, and her saturation level rose to above 95% instantly.
Learning and Taking Control What if I had sat there and trusted the personnel, would things have been fine? How would I have felt if I had not jumped into action in front of a dozen people who have given their entire careers to the art, and she had died? Hours after I had the ceremonial cry session with my wife, I felt a sense of pride, power, and a very clear realization that we are not in control, her health is fragile, but we must always be on high alert and do our best. Learning from one another, my wife and I have made it a mission to take control of what we can. Never sit back if you do not agree, always be aggressive, and always understand that each medical event levels you up, makes you stronger and smarter.
So, what’s the point? How does any of this have to do with a syndrome, or a disease? Don’t be fooled into thinking that the syndrome is the issue, it’s the disease states that causes problems. In my ER story the disease was generalized seizure disorder. Deletion syndromes have potentially hundreds of genes zapped, as a result the gamut of disease states is enormous. The way they name these syndromes on a genetic level is less about the phenotype, or presentation of the syndrome, and more about the region of the deletion on the chromosome. My personal interpretation of this is that syndromes are not a real actionable issue that you as a parent need to be concerned with. Always focus on the diseases and how you can get even minimal to marginal gains with the expression of that disease. Some of those treatments will be cures. It gives you hope and pride knowing that you were able to cure some of those diseases or malformations, considering the syndrome is not curable.
Proactive Approach to Medical Challenges While every situation may pose different challenges, my recommendation, which you may not hear anywhere, is to be aggressive in treating the diseases that your child is born with. If it is a challenge feeding your child, pursue a g-tube. If they discover a heart murmur, ask when you could do the surgical repair safely. If they have reflux, and you are aware of a webbed tongue (lingual frenulum) have them repair it while they perform an upper endoscopy. If your child is undergoing sedation, always think of other procedures that are required so that you can stack them together. Another example might be to perform a hearing test under sedation after a non-invasive diagnostic test (i.e., MRI)
When my daughter was born, I told myself that I would not get in the way of her treatment. I would not succumb to the fear, anxiety, or potential failure of medical treatment. No matter what it took I would not consider my feelings and go after any medical solutions to provide improvements to the myriad of diseases that my daughter fights with daily. No matter what you think, you as a parent are at war with the syndrome and how it changes your child’s and your own life, and a soldier never bows in fear. They attack.
Some practical advice as you navigate the disease that your child's syndrome will cause:
Focus on the diseases that make up the syndrome and how each one can be treated
Trust your gut; If your child doesn’t look well to you, don’t stop until you feel heard
Don’t get in the way of the best treatments for your child because of your own fears
Celebrate small victories