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Living with a rare disease
by Ovi Magazine Guest
2016-02-29 09:48:53
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Living with a rare disease
By Anna Kyrozi Gerogianni

My first daughter Marilena (from Maria Eleni) was prematurely born (32 weeks of pregnancy) due to oligohydramnios, a few weeks before the Olympic Games were held in Athens in 2004. She had very bad respiratory issues to begin with. She was diagnosed with the syndrome called “OKAMOTO” when she was 2 years old. Until then we were struggling with the "unknown"...

She's just the fourth reported case worldwide, from which two of them have died! (http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2008.03147.x/pdf and http://omim.org/entry/604916)

marilena01_400Marilena was born with multiple congenital anomalies including cleft palate, stenosis of the ureteropelvic junction with hydronephrosis, and cardiac anomalies, along with generalized hypotonia, severe developmental delay, and growth failure. The distinctive facial appearance included microcephaly, midface hypoplasia, prominent eyes, epicanthal folds, long eyelashes, synophrys, low-set ears with long earlobe, flat nasal bridge with short upturned nose, open mouth appearance, full lower lip, and downturned mouth. She also has fixation of filum terminale and Hirschprung disease.

During pregnancy amniocentessis showed a normal 46XX karyotype.   When she was 2 years old, we did a GR-CGH (Comparative Genome Hybridization) test that was negative.  MRI at 3 months showed delay of myelination.  Another MRI at 29 months showed normal myelination, normal ventricles and corpus callosum, no malformations.

My husband and I had no idea about her situation and were really shocked on the day she was born. We brought her home after 3 months of remaining in the hospital. I didn’t feel her as my daughter. I didn’t feel like I was her mother… I felt like I adopted her. It was a very strange feeling! But I loved her so much!

Marilena will be 12 years old in June 2016 and she has gone through 10 operations until now, on her kidneys, intestine, lower spine, cleft palate… and dozens of hospitalizations. She can't walk without help. Due to her hypotonia she can't chew or even talk. She has some characteristics of Autism without being autistic.  She just says a few two-syllable words and she cannot write. However we communicate in our own way. 

She is attending one of the best special schools in Greece, where she has speech therapy, physiotherapy, watertherapy, occupational therapy, musical therapy, educational programs etc.

Unfortunately these therapies are not enough for her, as every therapy takes place one or twice a week.  So, she is also having speech therapy, physiotherapy and occupational therapy at home. Furthermore  we have added therapeutic horseback riding twice a week in her program for the past 1 and half years. She enjoys it very much and it has helped her gain confidence and has improved her “motion” skills.

Marilena has one younger sister, Evelina, who is 8 years old and a little brother, who will be 12 months in February! They love each other a lot and enjoy playing with each other without jealousness and fights! She also has two little shih tzu, which she also adores and plays a lot with.  We consider them therapeutic dogs, since everytime she hurts she takes one dog in her lap and hugs it and magically stops crying. Marilena is a very cute, quite and happy. She is very funny and likes making others laugh, has amazing strength and she loves to learn new things.  She becomes very stubborn when she has to do something which she can’t. The worse days are when she is sick.  She suffers very often from urinary infections with lots of pain and high fever due to her kidneys’ problems. These are her worse days…

Sometimes we cannot understand her and this is a big problem because that makes her nervous and starts shouting and crying (like saying “help”…).

marilena02_400Marilena’s syndrome is so rare that nobody knew it in Greece.  After years of personal efforts by sending letters to the Greek government and variοus  ministries, being on TV programs and giving publicity through social media, I finally managed the Okamoto syndrome to be recognized in Greece and be recorded to the rare diseases list!  Unfortunately there is almost no providence in Greece.  Families with disabled children or adults are living very difficult and have extreme expenses in order to have a decent life.

The government doesn’t understand how high the cost of taking care of a disabled person is… They don’t care or it is not their priority.  Disabled people are marginalized!

I come up against many problems when I go to some civil services and almost all the time I leave crying.  They treat me as if I am a beggar even if what I ask is what Marilena is entitled to! It’s a mess.

Another big problem which I faced is public children hospital.  It is a very good hospital but not for so rare diseases.  They made wrong diagnoses many times which led  to  hospitalization for many days in private hospitals with very high expenses, which we had to pay! Doctors in the public hospital couldn’t treat Marilena, they didn’t want to operate her due to her unknown syndrome and the multiple health problems she has.  They also kicked me out once of the x-rays room once because I was alone with Marilena and she was not collaboration and standing still…. No one of the nursing staff accepted to help me and hold her still. They told me to go away and come back with another person!

After we had many bad experiences in the public hospital and due to their inability to help Marilena, we don’t ever want to go there again.  This means that we have to pay a lot for private hospitals when she has to be hospitalized.

Our dream is that Marilena will be able one day to be independent and capable of taking care of herself (dress up by herself, go the the bathroom etc).  Our worst fear is what she is going to do when her father and I will not be alive any more.  We don’t want her siblings lifes to be affected. There are no  decent institutions in Greece to leave a disabled chile/adult to live when he is alone! This is a nightmare…

We believe that there might be also other undiagnosed children with the Okamoto syndrome and hope that one day we can get in touch with them, as the syndrome is so rare that no prognosis can be made and this is very scary.

Hereunder you can see some photos of Marilena, how she looked when she was born and how she looks now….



facebook: Anna Kyrozi Gerogianni

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