Help Required for Treatment & Surgery for Dysplasia

[Guest guest]

Good day,

Our daughter, Bianca, which has just turned 6 years old, has been

diagnosed in the past few years with a rare bone disease. This

diagnosis was based on various appointments made in the past 2 years

with doctors (genetics, orthopedics, general practioners, orthopedic

surgeons, etc.) around Europe (Germany, Serbia, Hungary and Portugal)

on her deformed knees (X-form).

During the various visits to the doctors mentioned above, we got more

information that Bianca may have a form of Dysplasia but until now,

no doctor could tell us exactly if it is Spondyloepiphyseal Dysplasia

or Spondylometaphyseal Dysplasia. No form of Dysplasia has been

diagnosed in either family (mother or father) and therefore the

doctors believe she contracted this disease based on genetic mutation

during the pregnancy or during birth.

Up until now, besides her knees having an X-form (currently around 20

degrees inwards), Bianca has a normal overall growth bodywise with no

apparent disform of any other body members including her back (refer

to attached picture). Her current height is 116cm and her weight is

20 kgs, which by any standard is normal (not too low, not too high)

for a 6 year old girl.

My wife is now pregnant with our second child and we did some genetic

tests to check if the new baby would also carry this disease. Since

the father (myself) is not the same genetic father as Bianca, we were

told that the chances of the new baby having some form of Dysplasia

are very minimal. In order to make sure and based on the fact that up

to now no doctor has given us a clear statement on the type of

Dysplasia Bianca has, we decided to do some genetic tests between the

new baby, myself (new father), the mother and Bianca. The tests have

been negative regarding the new born but we got the indication that

Bianca has Spondyloepiphyseal Dysplasia.

At the last consultation we had in Germany (yearly check-up), one of

the doctors told us that she needs to be operated in order to correct

her knees. This operation consists of introducing a so called (8-

plate) on the inside of both of her knees. This seems to be a new

method (3 years old) which will only see some results (asthetic)

during her growing years. Has anyone have any experience on this

method? How about any other types of surgery and treatment for these

types of Dysplasia?

Can you perhaps guide us to the best doctors and clinics in the world

for such a treatment?

We would like to thank you for your support and look forward to your

response.

Best Regards,

Brigitta & Filipe Goncalves