Patient Introduction

Hi, I’m Patricia, but you can call me Pat. I’m 38 years old, and I am here with my son, Tim — he’s 18 months old. When he was around 9 months, we noticed he wasn’t able to stand like other babies his age. After his first birthday, he did start standing and walking short distances, but he wasn’t very steady. Over the past 3 months, he would fall often, and over the last 2 months, we noticed, he wasn’t moving his eyes like before. During this time, we’ve been referred to multiple specialists for tests; however, since a confirmed diagnosis could not be made, we were referred to a neurologist who works closely with a geneticist. At our initial visit, genetic testing was recommended to help determine the diagnosis. I was told that the results would take at least 3 weeks, which felt like a long wait, but it was important to get the right diagnosis. Today’s visit is to review the genetic test results and next steps.

Question #1

Hello Pat, it’s good to see Tim—have there been any changes in Tims’ walking since your last visit?

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Question #2

That is an important observation; have you noticed any other symptoms, such as difficulty swallowing or trouble breathing?

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Question #3

Yes, they are—Tim’s genetic test has confirmed that he has a very rare condition called thymidine kinase 2 deficiency, or TK2d. Was this one of the conditions mentioned during Tim’s previous tests?

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Question #4

TK2d is a rare genetic condition; so, making a diagnosis can be challenging as it requires genetic testing. How do you feel after knowing the diagnosis?

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Question #5

TK2d affects mitochondria—when working normally, mitochondria make energy for the muscle, tissues and organs of the body to function.

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Question #6

In TK2d abnormalities in the TK2 gene affect an enzyme called thymidine kinase 2—that helps make and repair DNA that is inside our mitochondria. This means Tim’s mitochondria can’t make enough energy for his muscles, leading to leg weakness.

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Question #7

Currently, there are no approved treatments for TK2d. There are experimental therapies called ‘deoxynucleosides’, which help restore TK2 enzyme activity, which makes and maintains the special DNA of mitochondria that generates energy for cells like the muscles.

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Question #8

Unfortunately, Tim’s symptoms cannot be reversed, but patients treated under compassionate use have shown improvements in limb weakness, swallowing ability, and breathing, to name a few. Gene therapy is also being studied, but these studies have only been conducted in mice.

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Question #9

We will absolutely consider enrolling Tim in an ongoing trial for TK2d, but in the meantime we need to start Tim on supportive care to help manage his symptoms. Are you ok with this?

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Question #10

You make an excellent point! Our overall goal is to tailor a comprehensive plan with a team of different specialists to address Tim’s unique needs.

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Question #11

Our team of specialists— in neurology, orthopedics, pulmonology, gastroenterology, pediatrics, occupational, speech, and physical therapy, genetics, nutrition, and metabolic care — will work together to provide the required care for Tim.

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This activity is provided by Med Learning Group.
This activity is supported by an educational grant from UCB, Inc.