Mirabel – Koolen deVries Syndrome

DSCF9744editcrop

Mirabel is 21 months old and she has Koolen deVries Syndrome – a microdeletion of part of her 17th chromosome (17q21.31). The syndrome is rare with 1 in 16,000 being born with the condition. Mirabel was born with crossed eyes and has been diagnosed with alternating esotrpia and accomodative esotropia, congential nystagmus, far-sightedness and astigmatism.

DSCF5456edit

She got her first pair of glasses (pink Miraflex) at 8.5 months old and had bilateral strabismus surgery around 9 months old. She has been patching since after her surgery.We currently patch her stronger eye for 2 hours per day but we see the ophthalmologist every 4-6 weeks to reevaluate and adjust patching times as needed. Now Mirabel is wearing lavender Miraflex glasses with transition lenses and we love them!

Mirabel receives weekly physical therapy where she is currently working very hard on crawling and strengthening, weekly speech therapy where we are working on her cognition, sign language and picture communication and weekly therapy through our early intervention program. She also periodically sees ENT, audiology, genetics, neurology, ophthalmology and our wonderful pediatrician! Mirabel is an inspiration and a miracle to us. She is brave and a hard worker and we are so very proud of her.

And we CAN NOT wait to see her in her “My glasses give me superpowers” shirt and cape!

DSCF7384edit

4 Comments

  • Bridge Green says:

    Yay for adorable Mirabel!

  • Terry Blakely says:

    Yeah for a brave and hard-working little girl. And yeah for her brave and equally hard-working parents. You all have super powers!!

  • Lisette Rooyackers says:

    Hallo.
    Ik heb vandaag gehoord dat mijn dochter van 15 jaar ook het koolen de vriessyndroom heeft, eindelijk weten we nu zeker wat er aan de hand is. Pam is een hele lieve e nsociale meid met een behoorlijke verstandelijke beperking, heeft ook last van hypotonie en de speciale oogjes, heeft een onderontwikkeld gebit, mede doo rin de eerste jaren veel fysio, logo, ergo enz is ze toch gaan lopen enz…een heel speciaal meissie

    mvg Lisette

    • reaserj@gmail.com says:

      Dutch translation?
      Hello.
      I heard today that my daughter of 15 years also has koolen the dvryes syndrome, finally we now know for sure what’s going on. Pam is a very sweet e nsociale girl with a decent intellectual disability, also suffers from hypotonia and special eyes, has an underdeveloped teeth, co doo rin the early years many physio, logo, ergo etc she still go walking etc.. . a very special meissie

Leave a Reply

Your email address will not be published. Required fields are marked *