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A Long Overdue Update from ONH Consulting: Managing a Health Diagnosis with ONH

Jun 03, 2024 at 01:25 pm by Christopher


I wanted to thank all of you who have visited my web site, ONH Consulting, within the past year and reached out to me concerning their children. I realize that I have not added any new entries to my blog in the past year, and I believe the community of those with ONH, and their families deserve a full explanation. It has been a difficult year for my family and me, and I hope that the explanation for my absence will start a conversation with your own children, with ONH and your families. I have known several families who have faced similar life events and dealt with care for and loss of loved ones. Planning for the future, including illness and hospitalization, is critical, and particularly if you are parent or guardian of a child with ONH, I encourage you to develop a plan for a situation where your child may have to serve as a caregiver or responsible party if you are hospitalized or incapacitated.

On March 23, 2023, the week I posted my last blog entry, my mother scheduled an appointment with her primary care physician. She had been having heart palpitations for years, but her previous doctor dismissed her concerns. Upon examining my mother, her new primary care physician immediately diagnosed her with a heart murmur and eventually referred her for an echocardiogram.

The echocardiogram showed that my mother had severe mitral valve regurgitation and an aneurysm in her aorta. She was immediately referred to a cardiologist and a cardiac surgeon and ultimately had open heart surgery in November.

While my mother was receiving tests and being prepared for surgery, her cardiologist strongly recommended that I have an echocardiogram myself, as aneurysms and structural heart abnormalities can have a genetic component. On September 18, 2023, I had my echocardiogram. Initially, I thought that this would be a routine test that would find that my heart was perfectly normal. I would have an echocardiogram once a year to check for abnormalities as a precautionary measure, just like having a colonoscopy or any other routine screening.

The results of this test would turn out to be anything but routine. Late that afternoon, I received a personal phone call from my primary care physician, informing me that I had a large aneurysm in my ascending aorta, the largest artery in the heart that supplies blood to the brain and upper body. My aorta was dilated to twice its normal size, and he would be scheduling me for an appointment with a cardiologist and further testing the following day.

My doctor's tone was Ominous. If an aneurysm in the aorta ruptures, the result is typically massive internal bleeding. Most aortic aneurysms rupture is fatal, and the risk increases exponentially with the aneurysm's size. My need for treatment was urgent. Like my mother, this treatment would also involve open heart surgery to repair or replace my aortic valve.

I experienced a wide range of emotions, but foremost among them was fear. Fortunately, I missed many of the complications inherent in Optic Nerve Hypoplasia, such as cortisol and growth hormone deficiencies, but this would be my first major surgery. I had most of my baby teeth removed when I was six and was placed under sedation because of behavioral difficulties related to as yet undiagnosed sensory processing disorder. The sedatives made me sick and nauseated, and I was concerned that I would have a similar reaction to the anesthesia. That is, if I ever woke up from the surgery, which was expected to take 4 hours or more and involve placement on a heart-lung bypass machine.

Still another concern was how the staff at the hospital would accommodate my blindness. Though the hospital where I elected to have the procedure is one of the nation's leading heart centers, the same could not be said for the staff's knowledge of how blind patients function in their daily lives. Though two of our local television stations covered a blindness awareness event featuring over one hundred people using white canes that took place the day before my initial appointment with the cardiac surgeon, no one in his office knew the purpose or function of a white cane.

During this time, my father, who had had a stroke in July along with numerous other health issues, passed away on October 22. Needless to say, it was a difficult and stressful time for our family.

My mother's surgery was successful, and she was able to return home after only four days in the hospital. I was able to see the same cardiologist as my mother, and the same surgeon would perform my procedure, which was scheduled for January 16, 2024. Our medical team agreed that my mother would have her surgery first, so I could care for her during her recovery process.

The weeks following my father's passing and my mother's surgery were a blur. Fortunately, my mother's recovery was mostly uneventful. However, I still had many concerns about my impending stay in the hospital. Chief among them was the fact that I would wake up with a breathing tube and would be unable to communicate until it was removed.

Would the nursing and other support staff try to communicate with me using boards or other visual means of communication, not realizing I am blind? How would I be able to access the dining menus and other important written information during my hospital stay that was not in Braille? It would not be reasonable to expect my mother to stay in the hospital with me around the clock.

After speaking with a social worker at the hospital, I determined that I would need outside support to ensure that my needs would be met during my hospital stay. An information and referral specialist at my local independent living center recommended that I seek services from an independent patient advocate, which I did in December.

My advocate worked to help me coordinate my care while I was in the hospital and hired sitters from an outside home health care organization who stayed with me during my hospitalization. This proved vital in several instances when I was unable to communicate with nursing staff.

On January 16, I had my surgery, which involved repair of my ascending aorta as well as the aortic root, which marks the beginning of the coronary arteries. The procedure was not without risks. As I mentioned earlier, my overriding concern was loss of my ability to perform daily living skills and cognition following anesthesia. Though the anesthesiologist went to some lengths to reassure me that that my risk of post-operative cognitive deficit was low, I still had anxiety stemming from the fact that I learned most of my daily living skills (such as dressing) much later than typical.

The morning of my surgery arrived. As I was being prepped for anesthesia and my vitals were being entered, all I could do was pray. Like many children with ONH and Autism characteristics, I still have some profound musical interests. After some research, I asked the cardiac surgeon and anesthesiologist if music from the Carpenters could be played during the surgery to reduce my anxiety and mitigate the risk of cognitive effects of the anesthesia. They obliged, and I believe strongly that this prevented some complications as my procedure progressed.

The surgery was ultimately successful, but my path to recovery was not entirely straightforward. After I was taken off
the heart lung bypass machine, my heart stopped, a condition known as a complete heart block. This typically occurs when the heart's electrical system is damaged during a procedure, and I would ultimately have a permanent pacemaker implanted three days later. I eventually awoke in the cardiovascular ICU, glad to be alive and still able to communicate and think for myself, and my breathing tube was removed.

About twelve hours after I woke up from anesthesia, however, I began experiencing severe pain in my upper back, and my oxygen levels began to drop to dangerous levels. The pain I experienced was unique in that it radiated from my chest on my right side to my upper back, amplifying as it propagated along my rib cage like current jumping along an arcing electrical line. That is really the only way I can describe it, and the only way I could dull the pain was by taking muscle relaxers. It was the worst pain I experienced in my life.

Several chest X rays revealed that my right lung had failed to inflate properly during my surgery and was collapsing, and my cardiac surgeon inserted a chest tube, called a water seal, to remove an air pocket in my chest cavity near my right lung. Though my oxygen levels returned to almost normal after this tube was inserted, my pain increased to nearly unbearable levels, and I was placed on fifteen liters of oxygen. I also developed a 101-degree fever which lasted about the next 24 hours.

Fortunately, during my second night in the ICU, my pain began to subside, and I was able to sleep for the first time in nearly 36 hours. My fever also subsided the next day, and I was able to have my permanent pacemaker implanted the following morning. I also developed atrial fibrillation (AFib) while I was in the hospital, and it recurred after I was released. I was eventually placed on blood thinners to mitigate my risk of having a stroke.

On Friday, January 19, I was transferred to a private room in the hospital's cardiac unit and discharged the following Monday. I received a tremendous amount of support, love, and prayers while I was in the hospital. Just moments after my pacemaker were implanted, I received a visit from my aunt and uncle whom I had not seen in fifteen years. On the day of my discharge, I received a visit from my sixth-grade teacher, Mrs. Iden, who, it turned out, has served with her husband as a volunteer heart ambassador at the hospital for the past twenty years through Mended Hearts, the world's largest peer support organization for cardiac patients. Mrs. Iden was instrumental in shaping me from a crying, resistant child into an independent, academically successful junior high and high school student, and I was able to nominate her in "Who's Who in American Teachers" in 1990. Those visits in particular were instrumental to my recovery.

Following my surgery and hospitalization, I completed a twelve-week course of cardiac rehabilitation, which consisted mainly of vigorous exercise at a facility at the hospital three days per week. Overall, I am doing well and have changed my diet and exercise routine following my surgery, though I experienced accessibility issues with the exercise equipment at the hospital.

I am currently using a treadmill a half-hour-a-day, five days a week at home and am watching my diet closely. I also take medication for high blood pressure and cholesterol with Braille medication labels from a mail order pharmacy operated by my health insurance carrier.

As I mentioned, I hope my experience is instructive for any family of a child or young adult with ONH, or any child with special needs, for that matter. IF you are a parent or caregiver for one of our children, it is inevitable that, at some point, you will be unable to provide care for your loved-one for any number of reasons.

It is vital to have a clear and thorough emergency plan and review it often with your child or loved-one, particularly if they have Autism characteristics. Setting the plan to music or having a pneumonic that the child can easily remember or recite may be something to consider.

Have a designated person that the child can contact for transportation or other instrumental assistance in a crisis. Have a frank and honest discussion with your child about their strengths as well as their needs and limitations in an emergency. Understand that your child might be the initial point of contact for first responders or hospital staff or be required to make crucial decisions regarding your medical care. This is not the time to be focused on your child's strengths or what they "can do." Even a highly confident, independent blind person may need assistance in a situation where they need to make decisions or take responsibility for aspects of your care with limited access to information or other crucial resources.

Be sure to have an advanced directive, health care power of attorney, or health care proxy in place and that your child or a designated point of contact is knowledgeable of the specifics of these documents and your final wishes regarding your care. At the very least, ensure that your child (or another designated person) is on file with the hospital or other health care provider as an emergency contact, so the hospital can share information with them regarding your condition and procedure. If they are considered the responsible family member in charge of your discharge, they should be fully prepared to explain to a discharge planning team how they should expect you to transport you home from the hospital and the basics of how they will care for you. Fortunately, I did not have to do this for my mother at discharge, but I know of at least one blind colleague who had to answer some pointed questions before the hospital would release their family member.

If you have ONH, are blind, or have other disabilities like Autism characteristics, you might want to think about some of the accommodations you would need if you were hospitalized or have a medical procedure. You will encounter a wide variety of health care professionals, from administrative and support staff to nurses, therapists, and doctors, most of whom typically have little understanding of life with disabilities. It was not that long ago that many people with disabilities, including blindness, were placed in special homes or institutions, and were not expected to benefit from many common medical tests and procedures that members of the general population take for granted. The Autism Spectrum was not recognized as the disability that it is until the 1980's.

Therefore, you will likely encounter health care providers with limited or no knowledge of how to interact with you as a person with a disability. Add the fact that many health providers are overworked and forced to operate in a high-stress environment, and even the most confident and independent adults with disabilities can easily feel overwhelmed or conclude that they need outside support while receiving health care.

This support could come from family members, outside organizations like agencies serving people with developmental disabilities, or independent health advocates. Unfortunately, many services that people who are blind or have other disabilities need to manage their health care, such as orientation and mobility training to navigate a large hospital campus, are not covered by health insurance. In short, managing health care and hospitalization can be a challenging and time-consuming enterprise for even the most competent and skills people with disabilities.

Sections: Adult Perspectives