The Quest for Answers: Mallory's Story

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“And we know that for those who love God all things work together for good, for those who are called according to His purpose.” Romans 8:28 ESV

Have you ever heard about Riboflavin Transporter Deficiency (RTD), also called Brown Vialetto Van Laere Syndrome (BVVL)? This disorder is one of the rarest in the world. There are less than 100 known cases worldwide, but there are probably tons more that have not yet been diagnosed. This is why I would like to share more about it. Whoever reads this blog will know and share this information with others as much as possible.

RTD can show up in two different forms: Type 2 and Type 3. Type 2 is more severe than Type 3. Type 2 onsets between 3 months and 3 years old. By age 8, all individuals with the disorder exhibit symptoms. RTD Type 2 is caused by a mutation in the gene that encodes for carrying vitamin B2 into the cells throughout the body. The first symptom is unbalanced walking, followed by hearing and vision loss, breathing and eating difficulties, muscle weakness, slurred speech and sometimes anemia. Children with the disorder will then develop scoliosis, requiring back surgery and becoming wheelchair-dependent. Often, these symptoms develop years apart from one another. This disorder can become life-threatening.  Despite all of the physical symptoms, RTD Type 2 has no effect on cognitive function.

Since most of the effects of the disorder cannot be reversed, diagnosing it early on is critical in order to start aggressive vitamin treatments. I would like to share some stories about my friend Mallory’s experience with RTD Type 2 in order to help spread the word about the disease. Mallory is 26 years old. She began showing symptoms at age 2, losing balance, hearing and the ability to breathe independently. Originally, the doctors misdiagnosed her with another very rare neurological syndrome that they had also misdiagnosed her brother with previously. As Mallory’s health declined, her parents decided to take her to the hospital, where she stayed for many weeks and received a trach and ventilator. Her family was scared—they had been told that this diagnosis was not life-threatening.

By the time she left the hospital, her vision was diminishing and she had trouble speaking, which prompted her family to learn sign language to communicate. A year later, she yelled “apple juice!” when her mom was giving her Kool-Aid. She was so shocked, and she tried to get Mallory to repeat herself, but she could not.

Mallory went on to speech therapy, used interpreters, home nurses and a wheelchair. Her health remained the same throughout middle school, where she was very involved in both physical and mental extracurricular activities. Up until high school, Mallory had crawled and used a wheelchair to get around. However, in high school her limbs became weaker, so she could no longer crawl.

At the age of 14, her family decided they wanted to go back to church. Distraught and upset because of Mallory’s and her brother, Zach’s, health, they just hadn’t wanted anything to do with God. Nevertheless, they visited a church in which the people welcomed Mallory and her family, included them and made them feel comfortable. Christ pulled their hearts to Him, filling them with hope, peace, joy and strength despite their difficulties.

Throughout high school, Mallory’s breathing worsened. She became ventilator-dependent and also experienced unstable body temperatures, extreme fatigue, weakness, shakiness and kidney stones.

During this time, her family continued their search for answers. At the Mayo Clinic in 2009, they were disappointed to receive no further information. Yet, she would not let her health stop her from doing what she desired, so she went on to Wright State University. She became an avid participant in the university’s thriving disabled community.

Out of the blue, in 2014, her family received a call from her neurologist, who they had not heard from in 6 years! She had attended a medical conference at which a presenter shared about a newly discovered disorder called RTD Type 2 (BVVL). Immediately, she thought of Mallory and Zach. They ran bloodwork, which came back positive with the disorder. In her words, “What a huge emotional change, both exciting and shocking!”

With a newfound diagnosis, they found a small online group of other individuals affected by the disease. They began to form friendships with others who shared a similar life experience, finding support and a sense of belonging with them.

The best news of all: they were now able to start treatments for RTD Type 2. Mallory explained to me: “Zach and I both started taking large doses of riboflavin [vitamin B2] in December of 2015 and started seeing some improvements, such as feeling stronger, more energy, and more regulated heart rate.” She can spend more time off her ventilator and has increased her diaphragm strength. Riboflavin supplements have greatly improved Mallory’s and Zach’s health. Finally, in March 2016, Mallory received a cochlear implant. To her, this was her greatest improvement yet, and she now understands some speech for the first time in 15 years! Mallory expressed: “God has truly helped me to go through all of this difficulty and the emotional roller coaster. After finally finding my true diagnosis, I began to have even more hope with improving my health as much as possible.  I look forward to continuing with this long journey of improvement with my health and becoming as independent as possible.”

So now, you have heard Mallory’s story—how much she trusts the Lord no matter how difficult her circumstances become. She remains faithful to Christ and has given her life to Him.

Next week, I am going to share with you about another friend, Megan, who has been affected by RTD Type 2. Since you now know about this disease, please spread the word to as many people as possible, and you may save a life!