Our flexible toolset is designed for people with homocystinuria to use with their caregivers and care teams to support the transition from childhood to adulthood.
I am sure by now you realize that friends, family members, and even restaurant staff have many questions about your disorder and sometimes this can become frustrating, uncomfortable, and cumbersome. Whether it be Classical Homocystinuria, Cobalamin disorders, or Severe Methylenetetrahydrofolate Reductase Deficiency, it is important that you become fluent and at ease in answering some of the questions people ask.
In order to do this, it’s imperative that you are knowledgeable about your particular condition. You are likely already aware that the homocystinurias are a group of congenital inherited disorders in which the body is unable to metabolize certain building blocks of proteins. This results in an elevation of an amino acid, homocysteine, in the urine and blood. You are also probably aware that the diagnosis is most frequently made a few weeks after birth determined by the newborn screening test.
Because you are so familiar with your everyday routine including diet control, medical formulas and/or medications, as well as your follow-up blood level control, you forget that those around you are completely unaware of these treatments. As you educate yourself and then others, and you go as far as understanding the research studies being done to improve the treatment and outcome, you will realize that you are not alone in this. Experts are interested in your health and well-being including friends, family, and everyone else that you may encounter.
After a diagnosis, the most important thing for you to do is to be able to access and maintain your prescribed treatment. Like your peers, you likely want to sleep in, test the boundaries, and hate being reminded about what you need to do. You want to do all the normal young adult activities, such as learn to drive, graduate high school, go off to college, form meaningful relationships, start a job and become legally responsible for yourself.
But unlike others, you must navigate these milestones while adhering to your specific treatment plan and learning to care and advocate for yourself. It’s a complex time, but with dedication, you can work through any obstacles that may stand in your way!
Health care transition, or HCT, is the process of getting ready for health care as an adult.
During childhood, your parents and caregivers usually help with your health and healthcare needs—they call for appointments, fill out forms and keep track of medications. As you get older, managing those needs becomes your own responsibility. Achieving this independence requires an organized transition process to gain independent healthcare skills.
As we transition from childhood to adolescence to adulthood, we begin to make more complicated decisions, take on more responsibilities and become more independent. But we don’t travel this journey alone–parents, friends, teachers, coaches, and eventually romantic partners all provide us with the confidence, support, and advice that we need as we become well-rounded and happy young adults. Creating a support system around you that you can count on is important. Therefore, one of the most critical decisions that you will continue to make is the people with whom you choose to surround yourself, and the relationships that you cultivate.
“When I grow up, I’m living alone. Do you hear me? I’m living alone.” Many of you may recognize this quote from Kevin played by Macaulay Culkin, in the 1990 movie, “Home Alone.”
For those who haven’t seen the movie, Kevin’s wishes are fulfilled when his family accidentally leaves him home alone while they go on a European family vacation. Throughout the movie, he is faced with learning rather quickly how to do everyday tasks, like getting groceries, doing laundry, cooking for himself, and overcoming fears of the basement. Unlike most kids though, he has to fend off robbers in a series of dramatically staged planning and booby traps. In the end, though, he finds himself missing the comfort of his family and can’t wait for them to come home.
Like Kevin, many of you can’t help but dream of having your own space without the parental confines of home. While you all dream of having our own space without someone else’s rules, growing and having that space is much easier said than done, especially when navigating homocystinuria. Through careful planning and discussion with your parents and care team, you can determine the level of independence that is best for you based on the spectrum of your abilities.
As you navigate through your transition to adulthood, it is important that you understand exactly how your condition may impact your educational, job, or housing decisions, while also being aware of the resources and support that are available to help you in this process.
Financial aid or scholarship to continue your education as well as resources to help you prepare for and seek out opportunities in the job force are readily available. People like school guidance counselors and social workers can assist you in finding these tools. In addition, knowing whom to speak to about potential health, educational, and/or dietary accommodations in school or in the workplace is key!
Every time you visit a doctor, get your blood drawn, or pick up a prescription from the pharmacy, you will be billed for those services provided. Just like buying groceries or clothing from a store, it costs money to receive a service or product.
Health insurance is important to help you pay for those expenses related to your diagnosis and health needs. Healthcare services can be very expensive and can cause financial hardship. Ensuring you have adequate health insurance and knowing how it works can make sure you do not have problems accessing the services you need to stay healthy
Our legal system is a set of rules created and enforced through social or governmental institutions to regulate behavior. Legal professionals help you understand the law and advise you in regard to your needs. Understanding your personal rights and how it relates to the laws that are in place, is a vital part of becoming a productive member of society.
It is especially important when you have a medical condition because there are laws that protect your rights and the services you need to stay healthy. Seeking advice through legal professionals can also help you prepare for your future and access services that will help you lead a healthy lifestyle.