Tuesday, April 13, 2010

Patrīcija

PHOTODONATION: Rolfs Vendiņš

Patricija lives with her parents in Riga, and prior to my visit her mother told me that Patricija is 2 years and 4 months old. I decided to take a little present that I thought appropriate for her age; a colouring-in book and some stickers. However, when I arrived her father informed me that Patricija can’t hold a book let alone stickers. I immediately understood the extent of her problems.
During our visit Patricija smiled and immediately took to Rolfs Vendins the photographer when she is rarely welcoming of strangers. We discovered that she is happiest on the exercise ball or on her father’s lap.
Patricija’s family are delightful and regard Patricija as their greatest blessing despite the hardships involved in her care. They truly believe that their daughter will one day be healthy.
This is her mother’s story
„The whole pregnancy was normal and Patricija was born at 40 weeks. She weighed 4070g and the labour was 18 hours long. When born she did not make a sound and she was very limp. In assessing the Apgar score of 6 and 8 the doctor immediately noticed that she had low muscle tone. We were discharged from the hospital on the third day, and Patricija was deemed a healthy child. She fed very well but from the beginning her muscle tone was low.
Patricija underwent magnetic resonance imaging at 5 months of age, and no abnormalities were found. She has also had a CT (CAT) scan, and the magnetic resonance imaging was repeated when she turned one - no irregularities were found. Numerous genetic analyses were conducted and no conclusive diagnosis has yet been made. We are constantly consulting with geneticists, neurologists and ophthalmologists.
Her emotional development in the first months was very good – she was able to focus and followed objects well with both eyes. From 3 months of age she laughed out loud, was interested in her toys and was emotionally active. Her emotional development now appears delayed – Patricija does not talk using syllables, she ‘coos’ in her own language but responds appropriately.
She has low muscle tone and does not sit independently or crawl. Patricija loves to roll over; she has a strong will and makes every attempt to move forward! She is a very happy little girl who loves music, and being on a horse in her ride therapy classes.
Patricija has also been diagnosed with Ocular Myasthenia Gravis, and this condition is progressing.
A lumbar puncture (spinal tap) was performed to collect a sample of Patricija’s cerebrospinal fluid. The analysis, undertaken in the Netherlands, was to determine if she has dopa-responsive dystonia. The results showed two markers that were only slightly below normal so the doctors aren’t 100% convinced that this is a correct diagnosis. To confirm that she does not have this disease Patricija has to take special medication: levodopa-carbidopa. Recently the lumbar puncture was repeated, and we are waiting for the results from the Netherlands. No child in Latvia has dopa-responsive dystonia and the doctors here have little experience with this disease.
We are in regular internet consultations with Professor Swoboda, an American specialist who has expressed an interest in her case. We also want to thank Dr Zita Krumina (geneticist) and Dr I. Zabolonska (neurologist) – who are specialists in their field and always available for consultation and advice.
With sincere regards, Patricija’s parents Diana and Nauris.”
Patricija’s parents have requested our help because the analyses and examinations undertaken outside of Latvia are extremely expensive.
The tragedy of this story is that there is as yet no diagnosis. I greatly admire these parents for their care, initiative and determination to accomplish this emotionally and physically draining task. One can only imagine how they must feel.
We are waiting for the results from the genetic clinic in the Netherlands - and also for the account. 300 LVL are needed to pay for this analysis.
Patricija’s parents are fighters; they aren’t waiting for a miracle or for someone to do things for them. They do everything themselves. We have the ability to support this family, if only in a small way, by helping pay for the examinations and analyses.

Let’s help...


Thanks to the angels of Patricija:
Marija Rudakova - LVL 15,- (14.04.10.)
Kristīne Freimane - LVL 15,- (19.04.10.)
Angelika Rudze - LVL 50,- (19.04.10.) sveiciens Patrīcijai no Rūtiņas
Ilva Utāne - LVL 25,- (21.04.10.)
Krista Burāne - LVL 10,- (26.04.10.)
Anonymous contributor - LVL 10,- (30.04.10.)
Gundega Dūduma - Ozola - LVL 300, - ( 23.08.10.)

04.04.10.
The analysis in the Netherlands genetic clinic are paid: 357 EUR - 255 LVL


28.02.2012.
An invoice was paid to the association “Dižvanagi”, for the development of neurological program, LVL 100.

27.11.2012.
averticalizer was purchased for the total amount of LVL 175.45.

The aim of verticalizer is to make Patricija’s body feel the vertical position (taking into account that the child spent all her life in horizontal position) and togradually make the body get used to all activities in vertical position by changing verticalization angle. Patricija is already slowly starting to move on all fours – the next stage is crawling and the last stage is walking. Verticalizer helps in preparing for the last stage, as well as allows the organism to learn to talk, to drink, to eat, to play, to look when standing (until now all activities were performed lying on the belly or sitting). Eyesight and worldview have also improved, since the look when standing upright is more concentrated and also provides the child with the true view of the world (the way we see it). Verticalizer is used gradually – at first, at the angle of 45 degrees and later at the angle of 60, 90 degrees.
Many thanks to all donators from Particija and her parents!

1 comment:

  1. A website for children without a diagnosis. It for a non profit organization called Syndromes Without A Name www.undiagnosed-usa.org

    ReplyDelete

 
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