First steps after a TAR diagnosis

Receiving a diagnosis of a rare disease for your kid is tough. Expect to be the specialist for your child. You will be the one person who will need to manage doctors, appointments, and costs. You will need to take care of doctors talking to each other, informing you of their procedures, and at the same time, making sure that you are not putting too much strain on your child or yourself. You will need to stay on top of things!

In case you have a (suspected/unconfirmed) TAR diagnosis, we have listed a suggestion of things to rule out / check. We are not physicians; this is our personal checklist created according to the papers read, doctors consulted, and experiences shared by others.

• Blood: regularly monitor thrombocytes, especially in the first year
• Abdominal ultrasound: check for other abnormalities (kidney, ovarian/uterus-related abnormalities, etc).
• Heart: check for heart-related abnormalities and consult a cardiologist if necessary
• Hips: TAR kids often suffer from lower limb abnormalities, including hips. Immediately checking hips will help you treat a potential hip dysplasia that can be corrected without long-term effects.
• Legs: see above for hips
• Watch out for possible milk allergies: Some kids have milk allergies, so it makes sense to check this if symptoms occur when consuming milk or dairy products.
• Ears and eyes: It was a recommendation of a German doctor also to have a look at ears and eyes to make sure no damage has been caused by bleeding (due to thrombocytopenia)
• Genetic testing: You might need to wait weeks to months for the results, so start the process for genetic testing (blood sample of parents) as early as possible. This testing is helpful to determine whether your child is affected by TAR syndrome and to rule out other similar syndromes (e.g., Holt-Oram syndrome, VACTERL).

What else to keep in mind?

• Find good physical therapy – your child should not be afraid of going there; quite the opposite.
• Consider starting splinting or bandaging – under the guidance of a qualified physician – and incorporating it into a daily routine so your child gets used to having the arms touched/examined.
• Find ergo / occupational therapy if you need to adapt to specific daily activities.
• Find counseling for yourself or family support, if needed – to help with the psychological side effects of having a child with a disability.
• Find a surgeon whom you trust to schedule surgery (if you want to have surgery for your child)

I read many papers; I searched the internet – at times, it was frightening. I saw many pictures of kids with several limb abnormalities. I read about cognitive impairments (which, by the way, are almost non-existent in TAR kids). I read about all other potential genetic problems. I was afraid of what it would mean for our son, for ourselves. Thankfully, we also found many helpful people – especially on the Facebook groups – showing kids living their lives quite normally.

We also want to assure you that after the rough patch, it will get better, you will get used to it, and most importantly, medicine is evolving quickly, and new options will undoubtedly become available.

Questions you will receive:

• Did you know during pregnancy?
• Did you do genetic testing?
• Did you find a specialist yet?
• Is there anything else associated with this syndrome?
• So – what can they do?
• Will she be able to go to kindergarten/school etc.?
• Will she be able to live by herself?

Comments you will receive:

• “Kids like those, too, manage their lives somehow.”
• “You are so strong.”
• “My (insert relative, friend, or acquaintance) also had a kid with (insert severe medical condition), but they managed somehow.”
• “The good thing is that it is not a cognitive disability.”
• “I am amazed about how well you manage this.”
• “I cannot believe what you have been through.”
• “I don’t know how I would have handled this.”
• “If you had known, you would probably have aborted, right?”
• “But she seems quite normal, right?”

Things you need to be prepared for:

• Spending time in clinics – bring food, water, extra clothes, etc. You are guaranteed to have long waiting times and then have to be ready immediately to be taken for a particular exam/blood draw or things alike.
• You are one of many patients (especially with specialists)
• You will probably see children with much worse conditions, cancer, transplants, and, unfortunately, terminally ill children.
• Many doctors will know less than you do about TAR syndrome.
• Some doctors will invite students in to show this “special case.”
• Some medical personnel might make inappropriate comments when seeing your “special child.”
• Your child is unique – the expression of TAR syndrome can vary widely between individual cases