Rare treasure discovered in unexpected places

What makes something rare? According to the yourdictionary.com, “rare” is something that exists in limited quantities and that which is unusually good.

What comes to your mind when you think of a rare treasure? Is it the 45-carat weight, the Hope diamond, or a rare Kashmir sapphire? Perhaps it’s a life event, such as meeting the President of a country, shaking hands with an astronaut, or holding an Olympic gold medal. These rare experiences always leave a lasting impact on us.

What about people? Most of the world is filled with ordinary, “typical” people. They grow up to be independent and self-sufficient. We value high achievement in education or athletics, celebrity, and wealth.

Do rare people have value?  

What makes a person rare? By our definition, it is a limited quantity of people, who are deemed unusually good. A rare person is someone different than the “typical” population. The rarest people then, would be those with a rare condition. Would we say they are unusually good? Are they held in high esteem? Do they receive a place of honor? I think you know the answer.

February 28, 2018 is Rare Disease day. Its objective is to raise awareness with both policy makers and the public about rare diseases and their impact on the lives of patients, in order to reinforce their importance as a public healthy priority.

We don’t celebrate rare diseases, but I will be honoring one person in my life with a rare condition. My son Lyon lives with Wolf Hirschhorn syndrome (WHS). It is a condition caused by the loss of a small end segment of chromosome 4, resulting in the loss of a number of genes which contribute to the symptoms of the condition. According to the Genetics Home Reference: “This genetic disorder affects many parts of the body. Delayed growth and development, intellectual disability, low muscle tone, often heart defects and seizures.” Most people with WHS have similar facial characteristics. The majority not inherited, and life expectancy is unknown.

Lyon fits this list. He didn’t walk until he was 8 years old. He is considered non-language, eating is messy, and he cannot be left alone. Essentially, he needs help with everything. He battles countless pneumonias and several hospitalizations in any given year. He underwent open heart surgery twice and survived a life altering stroke.

If the definition of rare is our measuring stick, does he pass the test?

The syndrome exists in limited quantities, but would we say his condition is unusually good?

Unusually good people are world changers. Think of Nelson Mandela, or Martin Luther. My son will never be a world changer.

Or will he?

Is unconditional love rare?

We all have an innate desire to love and be loved. Unconditional love. To be freely and fully accepted by at least one person, warts and all, by someone who expects nothing and asks nothing. Lyon will love you like this. I don’t know if he loves like this because it’s in his DNA, or if his difficult life struggles equip him with the wisdom to know loving others makes life worth living. He will love you because it is in him to love you. We are blessed to see this first hand.

We have a family friend who goes into hiding when struggling with sobriety. She will disappear for weeks at a time. Once sober, she will drop in for supper. Lyon excitedly waits to greet her at the door. He throws his arms around her and starts giggling with joy. He doesn’t scold her or question her. The tears flow down her cheeks, she turns to me saying “I am free from shame here, no judgement, he accepts me, I am loved.” All I can think is, I have a lot to learn from him. I learn thankfulness when I spend time with my son. He teaches me how to endure suffering with joy and patience. The day of his diagnosis was a crushing blow, as my heart broke hearing the prognosis and historical data. This crushing blow lasted for a moment, but the blessing of watching his ability to unconditionally love others will last beyond a life time.

This gift is rare, but commonly found in people with developmental disabilities and rare conditions. They do not care about your education, your upbringing, your choices, or mistakes.

What is the rarest treasure? 

To love and be loved exists in limited quantities and is unusually good. If you have this love in your life you will most likely be fulfilled. The gift rare people give to the world is the number one need of every typical person. Would you say that this is rare, and would you hunt for this rare treasure?

Most of us hunt for this our entire lives, and yet it is found in the unexpected places, the heart of rare people.

Lyon’s ability to love you unconditionally will change you. It may even heal you and help you love others. Is this world changing? I think you know the answer.

Rare exists in limited quantities and is unusually good.

Ethical considerations

Tamara’s story above is a beautiful reminder that rare treasures can be discovered in unexpected places, treasure that cannot be quantified or purchased, treasure that is forged in the bonds of love. Bonds of love that cannot be shaken by a genetic disability. Bonds of love that are even stronger because of it.

As recounted above, this is not an isolated case. Such stories have been told by parents of children with a genetic condition frequently enough that it has been now recorded and scientifically analyzed. Although still comprising a small body of evidence, there is a new image of hope and reassurance to the story of what it means to be a parent of a child with a rare disease.

This brings up important ethical considerations of prenatal genetic testing. Such testing has now become a routine practice in reproductive medical care, and is presented to parents as a choice in making the decision for the birth of a “normal” healthy baby and avoiding the birth of an affected child through “therapeutic” pregnancy termination. Many such screening technologies have been available for some time, including ultrasound scanning or maternal serum screening, but with the recent progress in genetic screening and the popularization of the non-invasive prenatal testing (NIPT), the wide array of genetic conditions to test for is now constantly increasing. It is conceivable that in the near future NIPT could be used to screen an entire fetal genome for potential health outcomes.

Considering that the most frequent choice women take when informed of a positive fetal genetic diagnosis is termination (as currently that is the only option available to parents to avoid having a baby with a genetic disease), the question then becomes, are we adequately informed as a society about the outcomes and impacts on families faced with raising children with a genetic condition?

Obviously, the main societal preoccupation regarding this topic is based in fear, with the concern about the burden of raising a child with a disease being prevalent, in terms of the necessary time commitment, required resources, and potential social stigma. While it is undeniably true that having a child with a serious genetic condition will place significant and lifelong changes upon the immediate family members, the positive outcomes are often overlooked and do not get as much consideration as they deserve. There is a growing body of evidence that reports that the overwhelming majority of parents experience a great abundance of love and pride for their genetically affected children, and that such a child has contributed to the overall quality of the family.

Reported positive outcomes

Research on the family perspectives regarding Down syndrome children in the US, which is the most commonly observed developmental issue in newborns, indicated that 79% of parents saw their outlook on life as more positive because of the experience, while 88% of older siblings reported being a better person due to life with a brother or sister with Down syndrome.

Similar attitudes were reported by families with children with Edward’s and Patau syndromes, the next two most commonly observed genetic disorders. Despite low survival rates and the difficulty of care, 98% of parents reported that their affected child enriched their life, including improved marriage relationships in 68% of the cases, and positive effects on siblings were observed 82% of the time. Even more tellingly, 83% would agree to undergo the same experience rather than terminate the pregnancy if informed of such a condition again.

Parents of children with intellectual disabilities who typically spend the longest time as caregivers, have often reported positive outcomes from that experience. One recent analysis reported multiple such themes, the most common being an increased sense of personal strength and confidence, as reported by all interviewed parents. All interviewed parents also reported changed priorities in life, becoming less materialistic, less selfish, and more content overall. While all of the parents also agreed that their life has become more stressful and more difficult, this has also come with a greater appreciation of life, a different outlook on personal values and an appreciation of what they have. All parents took pleasure in their child’s accomplishments, no matter how small they might seem at times. The confrontation of the given situation has often resulted in increased faith or spirituality. Parents spoke of establishing more meaningful relationships in life, both inside and outside of the family, in part due to becoming more patient, more tolerant, and more compassionate and empathetic towards people in general. And finally, the parents often speak of the positive effects of their child on others that come into contact with them.

These stories often go unheard, are rarely reported back to new parents by the medical staff, and are seldom taken into consideration when such parents have to confront the decision of what it means to have a child with a genetic disease.

Ultimately, the decision is a deeply personal one, but both sides of the outcome ought to be presented. On one hand, the family is faced with the decision to have a child with potentially severe medical problems, with all of the consequences of what that impaired child will have to go through along with the impact on the rest of the family. But for those parents making this difficult choice, there also has to be provided the glimmer of hope that a genetic disease should not be viewed only as a handicap, because enriched and fulfilling lives can also be gained for all of the family members, not despite of the genetic disease, but because of it.

This article has been produced by Tamara Browning and Dr. Mikolaj Raszek and edited by Kerri Bryant. Reproduction and reuse of any portion of this content requires Merogenomics Inc. permission and source acknowledgment. It is your responsibility to obtain additional permissions from the third party owners that might be cited by Merogenomics Inc. Merogenomics Inc. disclaims any responsibility for any use you make of content owned by third parties without their permission.

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