TDD Parent Guidebook Digital
TDD Parent Guidebook Digital
D E F I C I E N C Y D I S O R D E R
PARENT & CAREGIVER GUIDEBOOK
B Vitamins
Vitamin Testimonials
1
WELCOME LETTER
Dear Families,
When my daughter Thea was first diagnosed with TANGO2 deficiency disorder at age
2, our world turned upside down. We felt completely alone. No one had heard of this
disease, and our doctor told us there wasn’t enough research or data to predict what
might happen. He encouraged us to find other families, to connect with others who
might share our journey, and reminded us that we would be our child’s best advocates
because doctors simply didn’t have all the answers.
So, we did just that. We reached out, and after much searching, we found one other
family in the U.S. who was also navigating life with TDD. Together, we created a
Facebook group—a small space where we could support one another and exchange
experiences. Slowly but surely, more families joined. With each new connection, we
felt a little less alone.
As our group grew, we began to recognize patterns—what made our kids better, what
worsened their symptoms, and what made them so incredibly special. Along the way,
the Morris family suggested we take a bold step forward: creating a foundation to
support research and education. That’s how the TANGO2 Research Foundation was
born in 2018. Partnering with dedicated doctors and researchers, we’ve come so far in
understanding this rare disease.
Looking back, it’s amazing to see the progress we’ve made—not just in knowledge, but
in building a community of families who truly understand and support each other. I no
longer feel alone, and I hope you’ll find that same comfort in this community.
This welcome packet is designed especially for you—new families stepping into this
journey. I remember wishing I had a guide when we first faced this diagnosis,
something to help navigate the overwhelming emotions and uncertainties. This
guidebook is a dream come true for me. It’s a resource to help you feel less alone, to
give you tools and knowledge, and to remind you that you are now part of a
community that cares deeply about you and your child.
Veronica Jones-Swetek
“Thea’s Mom“
Outreach Committee Member, TANGO2 Research Foundation
2
TANGO2
What is TANGO2?
TANGO2 (Transport and Golgi Organization2) is the name of the gene that contains a
mutation or genetic change. It is located on chromosome 22 (22q11.21). Genes are like
sentences made of the letters ATCG. A genetic change can include replacing a single letter
with the wrong letter, insertion or deletion of a single letter, and even large deletions of
multiple letters. These genetic changes can reduce the function of the gene or stop the
function completely.
3
MESSAGE FROM A MOM
“Going through this journey with Otis has not been easy, there have been
moments of feeling lonely and isolated. Relationships with family and friends
have changed and sometimes it has been very sad. I have had to focus on
where my priorities are and where my energy needs to be spent. Life has
been narrowed into a smaller space somewhat but that’s okay. Becoming a
‘medical mum’ is not a place I expected to be but that’s also okay. I have
accepted the new world we are in; we don’t travel as much as we hoped we
would have and instead of learning new foreign languages we have been
learning the medical language. How many people know to pronounce
encephalopathy and understand what that means? My perspective has
changed a lot, I see light and dark much more differently and know now that
the two can overlap, we can be brave and scared at the same time, we can
be firm with doctors and respectful simultaneously.
Sheean Hughes
“Mom to Otis”
England
4
SYMPTOMS
What are the symptoms of TANGO2 DEFICIENCY DISORDER?
Although there are some common symptoms and conditions across those
affected by TANGO2 deficiency disorder (TDD), there is also broad variability
of presentation and severity.
Symptoms at Baseline:
Developmental delay
Intellectual disability: Present in almost all individuals with varying severity
Poor coordination and gait abnormalities
Speech difficulties
Strabismus or lazy eye
Seizures: Present in 40-50% of individuals
Hypothyroidism (low functioning thyroid gland): Present in 40-50%
individuals
TANGO2 spells: characterized by head tilt, body tilt, abnormal posturing,
loss of muscle control, unsteady gait, drooling, and extreme fatigue.
Typically no laboratory abnormalities are seen during these episodes.
Acute Symptoms:
Metabolic Crisis - Can be triggered by fasting, infection, dehydration,
exposure to excessive heat, etc. Symptoms can be disorientation,
worsening gait abnormality, swallowing difficulties, muscle weakness, and
red urine. Laboratory abnormalities and abnormal electrocardiogram(EKG)
are seen during these episodes. Muscle breakdown can result in high levels
of Creatine kinase (CK) in blood. High levels of lactate and liver enzymes
can also be seen in addition to low glucose levels at times. Heart tracing
can show prolonged corrected QT interval (QTc) which can develop into
serious heart arrhythmias.
5
22Q AND TDD PREVALENCE
Are there other conditions associated with TDD?
Some individuals with TDD have also been diagnosed with DiGeorge syndrome (22q11.2 deletion
syndrome). For more information about DiGeorge Syndrome go to 22q.org.
Conservatively, it is estimated that there are roughly 8,000 individuals worldwide with this rare
disease. However, we are aware of less than 300 children and adults that are currently diagnosed.
6
TREATMENTS
Is there a cure for TDD?
Currently there is no cure for TDD. However, the TANGO2 Research
Foundation’s (T2RF) mission is to lead the way in finding a cure for
TANGO2 Deficiency Disorder. Our vision is to accelerate research and
therapeutic development, advocate and promote awareness, support and
connect families as well as drive early and accurate diagnosis.
Consult your health care provider to help determine the best treatment
options for your TDD warrior.
7
B VITAMINS
Chemical
Function Sources
Name
B2 (Riboflavin) Energy production, cell growth, antioxidant Dairy, eggs, leafy greens
DNA synthesis, cell division & growth, red Spinach, lentils, fortified
B9 (Folate)
and white blood cell formation cereals
8
B VITAMIN TESTIMONIALS
9
PARENT PERSPECTIVE ON B VITAMIN DOSAGE
A MESSAGE FROM
OUR FOUNDERS
10
PARENT PERSPECTIVE ON B VITAMIN DOSAGE
There are reports from families of younger children who saw noticeable improvement
in energy when the dosage of B5 was increased from 5mg to 100mg.
The Future
If you would like to connect with a family who has a child of similar age to yours to
learn more about their dosage and experiences, please email
[email protected]. We hope to have research evidence based data on B vitamin
dosage in the near future. Ultimately this answer will come from those participating in
the Natural History Study. It is through families sharing their experiences that we can
uncover what works best. If you are not yet a part of the TDD Natural History Study
contact [email protected] for more information.
Co-founders of the
TANGO2 Research Foundation
“Ryan’s Mom and Dad”
11
GENERAL HEALTH MANAGEMENT
In addition to daily B vitamins, it has been reported that individuals with TDD experience less symptoms when
they do the following:
Stay hydrated
Eat regular, frequent meals that include
carbohydrates and healthy low-fat proteins
Have regular bowel movements and avoid
constipation (some families report that their
doctors recommend laxatives and stool
softeners such as Senokot (docusate sodium)
and Miralax (polyethylene glycol 3350)
Exercise frequently without overheating or over
exertion
Wash hands regularly to prevent illness and
avoid public places when possible during the
flu season to prevent illness
Individuals living with TDD who are ill should
not go long periods without eating/drinking.
Healthcare Specialists - The range of symptoms and challenges for individuals living with
TDD are variable but many TDD individuals see a range of medical specialists including: a
pediatrician, metabolic and genetic specialist, neurologist, endocrinologist and cardiologist.
Other healthcare professionals - Others might include Dietician, Gastroenterologist,
Physical, Speech and Occupational Therapists
Social and Educational services personnel - persons with intellectual disabilities may also
eventually have a team of professionals who assist in identifying and accessing public and
private educational and social services
Other methods to manage care of individuals with TDD include:
Yearly blood draws to check for hypothyroidism
Initial baseline audiology and eye exams. Follow-up exams may be yearly
Use of “mito cocktail,” which may include the recommended B vitamins in addition to
CoQ10, and levocarnitine (note: some doctors have recommended the liquid form of
CoQ10 stating that it is more effective than the powder)
12
MESSAGE FROM A MOM
Tips from a TANGO2 Mom
Create a Routine: Establishing a consistent daily routine, if possible, can provide
stability and reduce stress.
Celebrate Small Wins: Acknowledge and celebrate the small achievements and
positive moments.
Taking care of yourself while caring for a child with a rare disease is an ongoing
process. By prioritizing your well-being, seeking support, and implementing practical
strategies, you can create a more sustainable and fulfilling caregiving journey.
Remember, by taking care of yourself, you are better equipped to take care of your
child.
Sheean Hughes
“Mom to Otis”
13
GENERAL HEALTH MANAGEMENT
Tips for Routine Medical Visits
Essential Items To Bring:
TDD Emergency Protocol Letter: Bring a copy of your TDD loved one’s Emergency
letter. Request that the doctor review it, sign it, add office or hospital letterhead
and add it to your child’s medical record.
Medical Records: Bring copies of pertinent test results including laboratory
reports, genetic tests, and imaging studies. If available, bring electronic versions
as well.
Videos: If you have recordings of seizures, unusual movements, or behaviors,
bring them to provide the doctor with a comprehensive view of your loved one’s
condition.
Previous Visit Notes: Having clinical summaries from the last related medical
visit can offer valuable context for the current visit.
Note-Taking Materials: Document important information, recommendations and
answers to your questions during the appointment.
Tips and Tricks for Your Visit:
1. Be as specific as possible when describing symptoms. Don’t downplay or
exaggerate.
2. Encourage your child to share their concerns and questions during the visit if they
are able. This can help them feel involved in the process and build advocacy
skills.
3. Invite another adult to help take notes, offer support and care for the child so
you can focus on the conversation with the doctor.
4. Don’t be afraid to ask a question if you are confused by what the doctor is
saying. You may want to repeat answers back to ensure you’ve captured
everything.
5. Ask when/if you should schedule your next visit.
6. If tests are done, ask when you should expect to get the results.
7. Be assertive and do not forget that you are the expert when it comes to your
child.
8. Before you leave make sure you have discussed your top concerns and got
answers to your top 3 questions.
9. Consider putting everything into a binder and group visit summaries, test results,
treatment summaries and medication history in separate sections. If possible keep
in chronological order with the most recent information first.
10. Ask for a 24 hour emergency care number that the doctor or on-call doctor can
be reached at in case of emergency.
14
EMERGENCY MEDICAL
MANAGEMENT
When to go to the hospital
If your loved one with TDD is sick and unable to consume liquids and nutrition,
notify your healthcare provider as soon as possible.
15
SIBLING SENTIMENTS
“There’s no other way to cut it - being in a rare disease family means you are a part of something different/
special/atypical/unique... rare. However, growing up with a special needs sister, I didn’t always feel far from
“normal.” Like other siblings, we grew up together, shared moments of love, frustration, anxiety, and all the
experiences that come with being a brother. I took her out trick-or-treating and accompanied her to school
dances; we shared our favorite movies and snuck each other treats behind our parents’ backs. As a brother, I
can confidently say that I didn’t miss out on any common sibling events. There are, on the other hand,
experiences that a non-rare sibling won’t experience that my sister and I had to work through/overcome/
appreciate. Here are some of them:
My sister has had trouble with speech. This meant, as a brother, I was also an interpreter. Growing up
explaining her thoughts to others, we established a unique bond- noticing subtle movements, patterns,
syllables, and picking up on meaning before sentences left her mouth. Today, I can almost see the thoughts
appear in her head before she reaches for the words. That is a rare skill we developed because we had to
and is now a super-natural token of the strength of our connection.
My sister needed extra support. This meant, as a brother, I was also
an extra parent. I learned to be responsible at a young age, caring
for my sister as I learned to care for myself. When my parents
couldn’t get through to her, I could, because I was a brother and
not a mother/father. Today, I carry the empathy, understanding,
and advocacy that this experience nurtured in me.
My sister needed independence. This meant, as a brother, I was
also her driver. While non-rare siblings grow up finding their unique
sense of self and fly the nest, my sister is bound
in certain ways to her abilities... but with her brother, she can tear some of those barriers down. When I got
my license, she got free rides. Today, we still take drives to go shopping, get coffee, and go out to dinner (her
choice) because she needs a brother to do the things she wants to do (and I get to join).”
~ Benjamin Mitchell
16
SUPPORT, INFORMATION & RESOURCES
Support, information & resources for TDD families
While much about TDD still remains a mystery, we are learning more every day about early and accurate
diagnostics, managing symptoms, preventing crises, and treatments. Here are some excellent resources for
more information:
17
SUPPORT, INFORMATION & RESOURCES
Below are affiliate organization that work with the TANGO2 Research Foundation to support our mission.
These organizations may focus on fundraising, advocacy, research, or community support, helping to expand
our reach and impact in their areas. While they may operate independently, they share our commitment to
finding better treatments and ultimately cure for TANGO2 deficiency disorder.
18
RESEARCH
Publications
Since the TANGO2 gene was first characterized in 2016
many peer reviewed journal articles have been written about
this rare disease, as a result of grant funding by the
TANGO2 Research Foundation.
You can view published research on TDD on the TANGO2 Research Foundation website
or by using this QR code.
19
COLLECTIVE RESEARCH IMPACT
We envision our foundation as the vehicle
committed to driving the research forward:
funding grants, enhancing communication and
coordinating efforts among those invested in
conquering TANGO2 deficency disorder.
26 Researchers
21 Projects
16 Institutions
6 Countries
20
GET INVOLVED
Volunteer
Together, we can make a difference in the journey toward a
cure. The TANGO2 Research Foundation is currently seeking
volunteers for multiple committees. For more information
please email: [email protected]
Fundraise
TANGO2 Research Foundation-funded projects are searching
for ways to end the diagnostic odyssey for families to stop
metabolic crises before they can happen. We are rallying our
community to ensure funding for meritorious research projects
in our next research grant cycle. Please consider fundraising,
or making a donation or monthly donation today! For more
information about fundraising please email:
[email protected]
21
Connect with us
TANGO2RESEARCH
TANGO2RESEARCH
TANGO2RESEARCHFOUNDATION
TANGO2RESEARCH
WWW.TANGO2RESEARCH.ORG
[email protected]