CAETANA'S SYNDROME:

Hello everyone!

    I’m Caetana’s mother, who is a very special girl.

Caetana has a rare syndrome, at the present time without diagnosis.With this site, we hope to find help to find it, in order to act preventively.

    It’s crucial to find it to be able to do prognostics, only this Caetana will have a free and fulfilled life like any little girl.

90% of rare diseases are degenerative!!!

    Four last Caetana’s internments are due to neurological demyetinating illness without etiology, which means that it is likely to have other disease of this type. Caetana’s may lose vital functions and her normal life each time she get sick.

It’s fundamental to find a diagnosis and we account with your help!!!

About Caetana...

    Caetana was born on 7th October 2008. After 37 weeks of gestation, was born with 3085 g, 48.5 cm, 34 cm head circumference and Apgar 7/9.

At birth showed:

• Equinovarus foot and started orthopedic treatment ;
• CIV + CIA/FOP;
• Renal function with reflux;
• Low ear implantation, which are different from each other;
• Deep hand pleats;
• Facial dysmorphia;
• Hypotonia.

Later developed:

• Bilateral strabismus;
• Metopic and sagittal craniosynostosis with dolichocephalic skull, without HTC signals;
• Hirsutism;
• Development delay, with hypotonia and hyperflexible ligaments – she started to walk to 25 months;
• Speech delay with facial and buccal hypotonia, tongue protusion and sialorrhoea – Caetana presents good understanding in language but delay in expression;
• Without known food or medicine allergies.

■ Equinovarus foot corrected with orthopedic treatment.

■ Reflux corrected with surgery.

■ Bilateral strabismus corrected with botulinum toxin.

■ At 3 years she was discharged of neurosurgery due to craniosynostosis’s natural correction.

■ Discharged of orthopaedics at 2 years of age.

■ Discharged of neurosurgery at 3 years of age.

■ Maintains physiotherapy, occupational therapy and speech therapy with good outcome.

Internments...

•  With 16 hours of birth, internment in neonatology service by feeding difficulties and intermittent groan.
                                                                                                                                                                                                             
• Caetana had D4-D6 phototherapy, echocardiography and renal ultrasound.
   
• Several internments due to high respiratory infections (bronchiolitis) and pyelonephritis.
   
•  Internment due to transverse myelitis without etiology (24/09/2011).
   
• Internment due to recurrent encephalomyelitis without etiology (18/04/2012).
   
• Internment due to transverse myelitis and/or ADEM (?)  (16/01/2013).
   
• Internment due to neuromyelitis optical (07/06/2013).
  Lost his sight completely due to inflammation and damage to the optic nerve, currently, after steroid therapy, Caetana only recovered 65% vision.
  
   

Consultation...

• Genetic;
• Pediatric neurology;
• Cardiology;
• Infectiology;
• Metabolic diseases;
• Growth;
• Physiatry;
• Urology;
• Oftalmology;
• Endocrinologist;
• Pediatrics;
• Endocrinoligy;
• Otorhinolaryngology;
• Nephrology;
• Stomatology;
• Neuro-Ophthalmology.
  
           High orthopedics at 2 years of age.
  
           High neurosurgery at 3 years of age.
   

Excluids syndromes...

• Costello Syndrome;
   
• Prader Willi Syndrome;
   
• Charge Syndrome;
   
• X-Fragil Syndrome;
   
• Boissel-Reich Syndrome.
  
  
  CGH Array: Negative.
  
   

                    WHOLE EXOME SEQUENCING RESULT NORMAL!!  :(

TREATMENT:
From the last crisis to June 7, 2013 (neuromyelitis optica), Caetana started treatment with immunoglobulin experimental level, once per month.