Diagnosis and treatment


In this section we have described the progress of Monika´s health condition starting from year 2007 up to now (updated 13/11/2011).

 

Year 2007

Monika was 4 months old when she saw, for the first time, the children´s neurologist. The main reason was her delayed development. She was unable to turn to her belly and to go upon her weak hands.

At that time we have started to practise the physiotherapy following the Prof. Vojta Method. During that period the results of Monika´s physiotherapy were very small – she was not interested in toys, often she did not react against our stimulation.


Year 2008

Few months later, after practising regular physiotherapy without any visible impact on Monika´s health condition we went to the department of child neurology in Thomayer University Hospital with Policlinic in Prague to carry out specific neurological examinations including the magnetic resonance. At that time we already had the results of eyes- and phoniatric examinations. According to the results the doctors diagnosed atrophy of the cerebral white matter, combination of muscular hypotonicity and spasticity (hypertonicity) and overall psychomotor retardation.

At that period the development of our daughter did not improve dramatically and her health condition was similar to that we have described above (psychomotor retardation, lack of interest in toys, weak hands, indistinct reaction against the sonic and optical stimulation, lack of concentration).

In order to have a complete picture of Monika´s healh situation in October 2008 we went to the department of metabolic diseases and genetics at Charles University Pediatric Clinic. The doctors have carried out a lot of examinations and tests but the results did not point out to any kind of metabolic diseases.

Beginning from the second half of the year 2008 Monika´s development has moved forward - especially the mental, cognitive and emotional part. Unfortunately the motoric part did not improve and still Monika was not able to sit, to crawl or to speak. At the end of the year 2008, in spite of the intensive and regular physiotherapy, the doctors stated that Monika has not reached the level of a 5 months old child in the psychomotor development.


Year 2009

In January 2009 Monika was again hospitalised on the department of child neurology in Thomayer University Hospital. The doctors made further examinations in order to compare the results, to assess the progress and to find out the cause of our daughter´s disease. According to the results Monika´s psychomotor development did not move significantly forward. At that time she was 18 months old but her psychomotor level has remained at 5 months.

Shortly after our daughter spent 28 days in Children Medical Centre for Motoric Disorders in Boskovice. This stay was focused on complex intensive physiotherapy. Unfortunatelly due to epidemic influenza she could not fully profit from it.

After few months, in April we went to the department of metabolic diseases and genetics at Charles University Pediatric Clinic for regular monitoring of Monika´s health condition and in July there was the regular medical control at department of child neurology in Thomayer University Hospital where the doctors carried out the magnetic resonance spectroscopy. Unfortunately the results have told us that the atrophy of the cerebral white matter has deteriorated a little bit.

Generally, compared to previous period, Monika has moved forward fairly. Her perception is much more concentrated, she reacts towards different kind of stimulation, recognises her name and spastic hands are much more relaxed. She has started to communicate with us using her legs and different kinds of screams.

At the end of July 2009 we have spent 15 days in Hurghada, Egypt, with the aim of a special alternative medical treatment headed by Dr. Eva Augustinova Refaat.

Thanks to this treatment Monika has further relaxed her hands and the mental part has moved forward as well. Monika has started to „speak“ in using sounds, screams and she has started to touch her toys and explore them. The aim of the treatment in Hurghada was the regeneration and stimulation of the neural system in combination with intensive physiotherapy and strict lactose free diet.

At that time we have received the last result from the department of metabolic diseases and genetics at Charles University Pediatric Clinic saying that the doctors found out specific markers indicating mitochondric disorder. In order to confirm this hypothesis they have to carry out other demanding examination. Unfortunately there is no efficient treatment to this kind of disorders. Apart from this information we continue in practising physiotherapy and stimulation.

At the end of August 2009 our daughter spent 28 days in Children Medical Centre for Motoric Disorders in Boskovice. During this stay intensive physiotherapy was carried out and Monika has overall strenghtened her hands, back and legs.

At the turn of November and December Monika went through special treatement in ADELI Centre in Piešťany, Slovakia - this time more focused on intense physiotherapy (2 weeks, 6 days per week, approx. 5 hours per day). Due to this treatment Monika has strenghtened her muscles and with help of the special ADELI suit she stood, for the first time, in vertical position and made her first „steps“.


Year 2010

At the beginning of January 2010 due to indication of a mitochondric type disorder, Monika spent one week at the department of metabolic diseases and genetics at Charles University Pediatric Clinic. During that stay a small sample of her muscle and skin were examined. The aim was to either confirm or deny the above mentionned cause of Monika’s health condition.

Unfortunately the results did not provide enough information to determine the exact cause of Monika´s disease.

We have continued to practise physiotherapy, hippotherapy and other activities in order to improve Monika´s health condition. At the turn of April and May this year Monika spent another 14 days in ADELI Centre in Piešťany and with regard to the positive results we have planned to repeat this physiotherapy stay again.

In June Monika went through another physiotherapy stay in Children Medical Centre for Motoric Disorders in Boskovice (28 days) and in September we repeated the treatment in Egypt at the clinic of Dr. Eva Augustinova (14 days).

The treatment in Children Medical Centre for Motoric Disorders in Boskovice was primarily focused on intensive physiotherapy. The programme has included hippotherapy and special physiotherapy in water. Unfortunately the progress of Monika´s psychomotoric development moves forward at a very slow pace and for the time being the physiotherapy represents the only way how to sustain and develop musculature.

Compared to last year’s treatement in Egypt Monika encountered some difficulties during the current stay. Despite those problems (fever, vomiting, seizure) we have managed to complete the whole treatment. We went to Dr’s clinic every day where injection in hip and/or ears was made. Besides this therapy even the everyday stay in Red sea helped significantly – Monika really enjoyed it and managed to stay in water for an hour! Moreover we could see tense release in her hands and legs. Together with other tips and suggestions the Dr gave us medicine for a period of 10 months – home treatment is part of the therapy.

Immediately upon our arrival from Egypt Monika was hospitalised at the department of child neurology in Thomayer University Hospital due to unspecified seizures that occured both before the trip to Egypt as well as during and after. The EEG examination has showed unspecified image that can indicate either some kind of behaviour disorder or specific symptoms of epilepsy. Due to the unspecified and atypic form of the seizures together with the doctors we have decided not to prescribe any specific medication. This will be the case only if the seizures will become intense and/or frequent.

In October 2010, after 3 years of various examinations and tests the doctors have finally confirmed the diagnosis - mitochondrial encephalopathy. The mitochondrial diseases are degenerative and there is currently worldwide no efficient treatment to this disorder. From the longterm view the doctors predict slow worsening of Monika´s health condition. Despite those new medical findings we will continue with all our current activities that focus on overall stimulation of Monika’s psychomotor development, however we will adapt their intensity and extent.


Year 2011

During the last three years we have tried many therapies and activities. From the longterm perspective and considering last findings we can now analyse/evaluate all of them and determine how to continue for the future.

Given the relatively high price of ADELI physiotherapy, we have decided to suspend this programme and we will carry on with the therapy and medication of Dr. Augustinová together with the physiotherapeutic programmes in our country - i.e. Medical centre in Boskovice.

In March 2011 we have repeated for the 4th time the stay in Children Medical Centre for Motoric Disorders in Boskovice. Due to an intensive physiotherapy programme Monika has learnt new "stereotype" movements of her hands. Unfortunately, we have noticed that once the progress in psychomotor development arrives, other already gained “skills” get weaker or disappear almost entirely.

In June 2011 we have spent another 14 days in Hurghada and, for the third time, we went through the treatment of Dr. Eva Augustinova.

Unfortunately, today’s medicine and its practices do not allow to proceed another diagnostic and therapeutic procedures that could help Monika. We will stay in touch with all the doctors and specialists who take care of our daughter in order to monitor her health condition. Hopefully, medical science will discover new findings that would help us in the future.

Unfortunately, till now, considering all the treatments and physiotherapy Monika is not able to sit, to crawl and to speak. Nevertheless all small steps forward in her development represent the best motivation for us to continue in our efforts.