Lets Help Heinrich

As we discussed, I strongly suspect that Heinrich has a skeletal dysplasia that primarily affects the growth of his spinal vertebrae. This is why his upper body and neck appear shorter and disproportionate compared to his arms and legs, which have a normal length. If we were to do X-rays, we would likely see that his spinal vertebrae are flatter than expected. This group of skeletal dysplasias (there are quite a few) that affect the growth of vertebrae is grouped as "spondylo (vertebrae)-epiphyseal (growth plate)-dysplasias (abnormal growth)" or SEDCs, and there are other types such as SEMDs (spondylo-epi-metaphyseal-dysplasias). X-rays should give us a better idea of which joints/bones are more affected, but they usually cannot make a specific diagnosis. The genetic causes of these conditions are broad, with several genes influencing bone growth in the body.

The gold standard for a diagnosis would be to conduct further genetic testing. There is no testing available for this type of skeletal dysplasia in South Africa. We send testing overseas, to the USA or Germany.

I suggest that we request the Invitae Skeletal Disorders comprehensive panel (USA) - https://www.invitae.com/us/providers/test-catalog/test-89100. This panel tests 350 genes related to skeletal dysplasias, including the SEDCs and SEMDs. We will send the testing (blood test) through Pathcare.

The costs are as follows:

• R1000 – courier and admin fee payable directly to Pathcare on the day of the blood draw.
• 349 US Dollars (approximately R7000 depending on the exchange rate) - payable directly to Invitae via an online credit card transaction. You will receive an email from Invitae with instructions for credit card payment.

The total cost is approximately R8000.