RARE DISEASES 12 TIPS AND RESOURCES FOR PARENTS

BY TAMMY NEARON

My daughter, Taylor Nearon, was diagnosed with MCAD at the age of 18, but it took over five years to receive the official diagnosis.

Mast cell activation disease (MCAD) is a rare condition where the body produces too many mast cells within various organs, or the mast cells do not function properly and become overactive. Taylor's mast cells were within normal range but did not act or operate correctly, which caused symptoms of swelling, hives, nausea, and anaphylaxis. During Taylor's final months, she asked me to continue the fight on behalf of other MCAD patients. My daughter helped start the Super T's Mast Cell Foundation (see About ). Taylor passed away in my arms on September 28, 2017, after a brave battle with MCAD. "Mommy, don't forget me," Taylor said.

ALL ABOUT TAYLOR

SUPER T HEROICS: Taylor went from working out 3-5 times a week to stay in shape to a girl requiring tubes to keep her alive. In 2015, she had an anaphylactic reaction caused her to lose pulse for 5 minutes and required CPR by a police officer and her mother.

Three months after Taylor Nearon's death, Super T's Mast Cell Foundation officially became a reality. It is the first nationally-recognized nonprofit 501(c)(3) offering financial resources for patients and families impacted by mast cell diseases. Currently, there are over 4,000 known cases of mast cell diseases in the United States. The Foundation carries on its mission, fueled by Taylor's brave fight against mast cell diseases, and the boundless love between a mother and a daughter. Before receiving the rare diagnosis, Taylor was a varsity soccer player, ran track, volunteered in the community, and spent time with her friends, family, and puppy Baxter.

"She was known for her speed when she played sports. We joked that we were going to get her a cape. When she got sick, we would say, 'Super T got this,'" said Tammy. Before receiving this rare diagnosis, Taylor was devoted to her sports teams, her studies, and lived a "normal" teen life. She was a scoccer and track standout in high school. She volunteered as much as she could. When she wasn't playing, she could be found helping out within her church, lifting childrens' spirits in the hospital, and serving in the local food pantry. After her diagnosis, Taylor spent most of her senior year completing coursework through Cyber School.

Upon graduation from Upper Merion High School in 2015, she was accepted to every college she applied to, but had to relinquish all of her acceptances and scholarships due to the debilitating health challenges introduced by MCAD. In July 2015, Taylor and Tammy went to Minnesota to visit the top mast cell specialist, Dr. Lawrence Afrin, to seek answers. They eventually found Dr. Fidler at Abington Hospital, whom Tammy praised for saving Taylor's life at the time by starting her on continuous IV Benadryl.

Today, Super T's Mast Cell Foundation carries on this same mission, creating awareness and education surrounding mast cell diseases around the world. "This is an underrecognized community of patients. When people support patients of the mast cell disease community, it shows they are not forgotten," said Tammy. "Every day, I miss my baby girl. But I know this was her dream, her passion. I keep going because she kept going through more than I can even imagine." •

RARE EXPERIENCE : TWELVE TIPS FOR IDENTIFYING AND ACCESSING RARE DISEASE RESOURCES

As a parent, it's overwhelming to know where to begin on the journey of locating services. There are so many questions like where do I even start, what resources are available, and what is my child eligible for? Through my journey with Taylor, I kept copious notes and found support in various places. Here are 12 tips that will hopefully help parents with a child with a rare disease:

1. Reach out to your county and state to check eligibility for various programs offered such as supplemental insurance. Most times, parents are not aware their child may be eligible for additional health insurance coverage known as secondary insurance through their state. Secondary insurance helps to offset co-pays and may offer the medical waiver program. This program is useful for visiting nurse needs, adaptive appliance and equipment needs, home modification, and more. Be sure to check your state's eligibility. Each waiver has its own age requirement and possibly a wait period.

2. If your child has nutritional needs such as formula feeds via a feeding tube, look into WIC Programs. Based upon eligibility with supplemental insurance and certain waiver programs, your child's medical formula or other nutritional needs may be covered. When there is a nutritional risk, meaning the existence of a medical based or dietary based condition, WIC Programs are very useful. Examples of medical-based conditions include anemia (low blood levels), or being underweight.

3. Durable equipment coverage is an often-overlooked need. Before spending outof-pocket dollars, research what your primary and if eligible, secondary insurance will cover. Some items covered include wheelchairs, blood sugar monitors and strips, infusion pumps and supplies, hospital beds, pressure reducing support devices, nebulizers and nebulizer medications, walkers, etc. Various medication assistance programs exist and sometimes it's a matter of locating the program that meets your child's medication needs. Such programs are: Prescription Hope, RX Outreach, Partnership for Prescription Assistance Program, and Patient Assistance Programs sponsored by Pharmaceutical Manufacturers.

4. Search for foundations related to your child's diagnosis. A variety of foundation programs offer grants to help with incurred medical expenses, travel expenses or home modifications, etc.

5. Ask the medical institution where your child receives care how they can help. In some instances, they may offer parking waivers based upon the number of visits per month. Parking costs add up quickly when there are frequent visits/stays. Ask if they offer transportation assistance. Some healthcare organizations offer this service for patients involved with their complex care programs.

6. Address the mental aspect of the rare condition for both the age- appropriate child and parent(s). I found when my daughter was diagnosed with a mast cell disease as an adolescent, it was crucial she have someone to speak with about concerns she was facing at the time and how the diagnosis would impact her life going forward. My daughter did not want her condition to define her, she wanted coping skills. She learned beneficial mindful techniques which she found useful when trying to integrate her education, social and medical parts of her life. These skills also helped when Taylor was faced with further health obstacles. As a parent, I found having a therapist helpful to learn not only coping techniques, but also ways to deal with my PTSD that occurred due to my daughter having a cardiac arrest. It is okay to have your own set of life skills and mindful techniques that will be useful on your child's rare disease journey. You have your own set of worries and concerns. Self-care is critical to remember and maintain.

7. Create a support team. Once you have a diagnosis for your child, make a list of family, friends, community, and medical staff who will need to be on the "team." From the community aspect, if your child is in school, what is needed from his/her teacher and school? Yes, a detailed 504 Plan is key, but this goes further. We found it useful to speak with staff individually explaining the magnitude of my daughter's rare disease diagnosis. This was a great time to educate about the condition and how it impacted my child. You are your child's best advocate and this is an opportunity to educate those around your child. Every condition impacts everyone differently. Communication is key. Additional community involvement went as far as educating our ambulance service and local police of her condition. Unfortunately, there were frequent ambulance calls. Because of advanced education on our part, this was helpful when treatment was required. Our local police placed a specific notification in relation to our address and my daughter's condition. This information will pop up, should there ever be an emergency call for your address. You may never need to call an ambulance or need police, but it is beneficial to make them aware in advance, should they have questions. Your child's needs can be tweaked over time. Establishing a line of communication proved very useful for us. The friends-and-family team is there to help with food shopping, walking the dog, sitting with you over a cup of tea or a family game night to offer distraction. It is okay to ask who would like to be on the "team."

This will change over time and that is okay! Right now, how could a friends-and-family team help you? We found having help to grab groceries every other week and walking our dog when there wasn't nursing coverage, was helpful. Also, while a bit timeconsuming, create a terminology list. The team needs to understand what terms are being heard for the first time. Finally, your child's medical team. In the rare disease world, there is a multifaceted approach to each child's medical needs. Who are each of your child's medical specialists? Create a list with their contact information, i.e., email, phone numbers, fax numbers, as well as the office managers and nurse managers point-of-contact information. There may be moments you have frequent conversations with the nurse manager. We found, in most instances, they were able to contact our daughter's doctor quicker than leaving a message. Show them (and really, everyone on your team) kindness and respect. The specialists have more than one patient, so try to have reasonable expectations.

8. Document everything. Get a good old-fashioned notebook and document everything pertaining to your child's condition. Even after you receive a diagnosis, keep taking notes. Some parents transfer the handwritten notes to a Word doc for better readability or if/when they need to email something to medical specialists. Do what works for you, but document everything (description of symptoms/date/time/ etc.) by writing it down. Take pictures or videos where it will assist with written documentation. If you are able to note the "before" activity and the "after" response, this is beneficial information when determining a child's possible condition. The term "rare" is what makes diagnosing the challenge. Yes, it's time- consuming, but walking into your child's appointment with information will help the specialist paint a fuller picture of your child's health rather than relying on verbal examples from memory. Make a note of medications and your child's response to them. Over time, responses to medication may change, and having notes on any peculiar or different responses is useful information. From experience, once we started coming to appointments with documented information, specialists were able to start putting puzzle pieces together. This approach was useful when medications created adverse symptoms not otherwise seen in the mast cell patient community. Keeping notes allowed us to identify certain medications that could not be taken together and had to be spaced out further than the normal duration.

9. Communicate with your child's specialist. Have your questions or concerns written down beforehand. Keep a separate datebook/notebook strictly used for appointments. It helps keep things more streamlined so when you need to recall information from previous appointments, you have it at hand. If there are multiple specialists on the team, it is imperative to understand they each play a role and can only speak for themselves. Be open and honest with your child's treating physician in regards to his or her specialty. Rare diseases often have multisystem involvement with overlapping symptoms which may cause confusion among medical professionals, patients and parents. If you're seeing your child's cardiologist, bring questions pertaining to his specialty, his line of care, or symptoms your child may be exhibiting for that specialist to answer. Working as a team with your child's specialist will be helpful. Your child's physician may be helpful, should there need to be an appeal with insurance. They will be able to provide medical support explaining the need for particular medication needs and practices for insurance purposes. We had several appeals, and each time our medical team had to provide necessary medical support during the appeal process.

10. Research organizations and factual information from trusted medical sources pertaining to your child's rare disease. It is important to ensure articles are peer reviewed and not opinion based. Is the article based upon a case study or data gathered from a population? We had used a particular article to base a series of questions and possible testing probabilities and came to discover it was not grounded in actual peer reviewed information. Actually, the article was funded by a particular organization which provided a very biased approach for care. Look to join organizations relating to your child's rare disease. Social media offers various platforms which are very useful. Many online resources exist and may offer another level of support. Again, when joining any platform, be sure to evaluate the information being offered. It's okay to share personal experience, but remember, each case is different.

11. If your child's rare disease has them in the hospital often, like it was the case for my daughter, having the following information in a folder was always useful: signs to be placed on the hospital room door, i.e., scent-free zone, chemical-free zone, perfume-free zone. Also, a list of your child's current medications, doses, and times-per-day received, along with your pharmacy's phone number, and your child's protocols outlined by their medical team. The attending hospital team should be in contact with your child's medical team about protocols and plan of action. For us, it was helpful to bring our log of triggers, reactions and/or symptoms. We found when dealing with a rare disease, having as much tangible information on hand for medical staff to read and see was helpful in treatment plans.

12. GLOBAL GENES globalgenes.org Providers need resources, too! Physicians who are willing to learn about your child's rare condition will need factual and science-based information to gain an understanding. Consider sharing information you have discovered yourself. (This is for those medical professionals who are not familiar with the rare disease or condition impacting your child and family.)

While dealing with mast cell disease, Taylor's empathy and compassion grew for others who were suffering with a rare and under-recognized disease. She wanted to make changes so patients and caregivers didn't have to feel alone, unsupported, or fearful about paying bills. To move her dream of a foundation forward, Taylor developed ideas to provide opportunities for patients to receive grants which would help to offset living and medical expenses. Her hope was to alleviate some of the financial burden associated with fighting this disease. This was the beginning of Super T's Mast Cell Foundation.

A GREATER GOOD: Taylor Nearon runs in her Junior year of high school; Super T's Mast Cell Foundation began Taylor's dream. The compassion and empathy she demonstrated towards others is what fueled the creation of this foundation.

Article: RARE DISEASES 12 TIPS AND RESOURCES FOR PARENTS