My pregnancy was normal until 38 weeks. I had not only high blood pressure but also swelling. However, gynecologist reacted calmly to this problem with the words “for the pregnant woman that is normal blood pressure “.
Unfortunately, everything worked in the wrong way. The high blood pressure at 39 weeks pregnancy resulted in pre-eclampsia and eclampsia. I was unconscious and could not remember anything at that time. My husband had to call emergency services and they immediately took me to the hospital to make extreme C-section.
Ruslan was born on February 22, 2018 in Caritas Hospital in Saarbruecken, Germany. He was a healthy baby with an angelic face. We were very happy to have this Miracle in our life despite all the difficulties during the delivery period. After two weeks we returned home, and Ruslan began crying 18 -19 hours a day.
We started to worry about this unusual ‘episode’ and directly visited our pediatrician. The doctor’s assessment was ‘he has colic” and went on to blame us on panicking because of not having enough experience to care for baby. After visiting different hospitals and doctors Ruslan was diagnosed as ‘a crybaby’ or ‘fussy baby’. We continued to be sleepless family till 6 months.
In June 2018, Ruslan refused to drink milk. According to our pediatrician’s advice, we noted how much milk Ruslan would drink in a day. The situation was still critical because Ruslan absolutely refused to drink milk. As result the doctor sent us to the local hospital Winterberg. In hospital Ruslan received a full checkup, however, no EEG and MRI was done. The team of doctors could not find anything seriously wrong through the testing they had completed. But all that time Ruslan had daily seizures. The final diagnosis was he had a milk allergy or acid reflux, which was later recognized as incorrect. We later learned that Ruslan had epilepsy and gelastic seizures, which caused this issue with his ability to eat.
In April 2019, we visited a local pediatric neurologist who performed a Video EEG investigate what was happening with Ruslan. After EEG he informed us that he “saw” nothing, the EEG appeared normal, and we were sent home. When I asked why Ruslan made crying or giggling noises throughout the day the doctor said we must wait till 3 years of age and then everything would be normal.
By the age of 2.5 years old, Ruslan’s behavior had changed dramatically in a bad way. He was also nonverbal. We made an appointment with a speech therapist and Ruslan was diagnosed with ADHS. Our kindergarten refused to take care of Ruslan because of his cognitive and behavioral problems. I had to give up my Master Study to care for my loved one.
In December 2020 we demanded from our pediatrician to give us referral to make MRI, as in Germany you cannot make an MRI appointment yourself. Eventually, we made an appointment in Homburg Uniklinik, but unfortunately, we had to wait 6 months for the MRI. In Germany this process takes a long time.
In July 2021 in Homburg Uniklinik Ruslan had EEG, Video EEG, MRI and blood testing. After MRI results the radiologist came to our room to tell us what was happening with our son. She said that Ruslan has a benign rare 9mm size brain tumor in area of hypothalamus, and it is called a Hypothalamic Hamartoma. We were absolutely shocked; I was unable to ask any other questions. We had no idea what this diagnosis meant as we had never heard about HH before. The doctors felt that Ruslan could wait another year before having surgery as the HH wouldn’t grow and he could live with it.
Against the advisement of doctors, I removed the word ‘wait’ from my vocabulary once and for all. We decided to go home and research information regarding Hypothalamic Hamartoma Syndrome on our own. We realized the long journey of misdiagnosing Ruslan had caused him to his precious years of his life which nothing can return!
Over the next three months, we spent our whole time researching until we found hospitals which could help us. In January 2022 we flew to Berlin to consult Prof. Dr. Ulrich-Wilhelm Thomale from Charité – Universitätsmedizin When he saw MRI image, he advised to make the endoscopic surgery to removing HH. We agreed, because Ruslan’s seizures continued to worsen as well as he was declining developmentally (cognitively, behavioral and speech).
On January 5, 2022, at Charite Hospital, Ruslan underwent a 4.5 hour. The surgery was successful despite there being a portion of the HH remaining. We believed Ruslan’s PICU and PED units time would be 3-4 days, but within the first couple of days in PICU were not good. Ruslan test result was positive for COVID and he had to stay in PED unit for 10 days. During that time, I noticed Ruslan’s first post-operative seizure. As the seizures occurred, he looked straight through you, and he had no control. In addition to this new seizure type, his gelastic seizures returned. After 10 days in quarantine Prof. Dr. Thomale let us return home. Ruslan continued to participate in speech therapy, occupational therapy, ABA therapy and swimming classes.
Around 3 months later Ruslan became very aggressive and started having uncontrolled crying episodes. At the same time Ruslan had an appointment with an Endocrinologist for consultation and blood testing. After some blood work and bone density scan, it was determined that Ruslan had precocious puberty (PP) and his bones were a year older than his chronological age. Ruslan was put on Enantone injection every 28 days to treat PP.
Over the 6 months after his surgery, we noticed his speech has progressed slowly. We decided to research other options for Ruslan and made the decision to pursue Laser Ablation Surgery to remove rest of the HH, which was believed to be the cause of the continued seizures.
At that time my husband and I knew only two hospitals in Germany where can perform Laser Ablation surgery with children. The first one was Uniklinik Frankfurt am Main, from which we received rejection regarding Laser Ablation Surgery. The second hospital is Beta Clinic in Bonn, which accepted our offer and gave us an appointment for September 2023.
On September 11, 2023, the decision for the Laser Ablation Surgery was reached after a long discussion with neurosurgeon Prof. Dr. Thomas Gasser and neurologist Prof. Dr. Christian E.Elger. We had no doubt that our son’s health was in competent hands, however we had to find a solution regarding the financing of the surgery as the health insurance company had rejected the request. We ended up consulting a lawyer to protect Ruslan’s right to care. After 3 months of litigation, the court ruled in our favor and the health insurance company would be required to pay for the surgery. There were no words to express our gratefulness at that time.
On February 22, 2023, on his birthday, Ruslan underwent Laser Ablation Surgery which lasted 6 hours. According to the neurosurgeon, Thomas Gasser, the surgery was successful and within 3 days we were allowed to go home. Ruslan continued with speech, occupational, ABA therapy and swimming classes. His progress was good.
After Laser Ablation Surgery, Ruslan initially remained seizure free, but the gelastic seizures eventually came back and he was having tonic-clonic seizures more frequently.
In September 2023 Ruslan had post-operative checkup with MRI, blood testing and Video EEG and it was recommended to treat the current seizures with Lamotrigine. The first 4 weeks of taking Lamotrigine caused unpredictable side effects. Ruslan couldn’t sleep at night but would sleep 5 hours a day. As a result, he got tired easily, and he was very aggressive and irritable. He developed a mild skin rash which covered his body, continued to have seizures (laughing and crying) throughout the day. As result of these side effects, it was decided to stop the anti-seizure medication, however, he remained on the precocious puberty medication.
My intuition drove me to get a second opinion regarding Ruslan’s ongoing seizures and began to search outside of Germany. We sent Ruslan’s post-operative MRI pictures to Prof. Neurosurgeon Jose Hinajose Mena-Bernal in Barcelona for consultation. In October 2023, we had online consultation with neurosurgeon, he believes that the continued seizures and cognitive issues are a result of a portion of the HH remaining and is recommending another Laser Ablation Surgery as it may also help with the cognitive issues Ruslan is experiencing.
We are currently trying to determine the next steps for getting Ruslan this surgery. This requires again to deal with our insurance and other potential funding options. We have received acceptance from a charity who is willing to pay a portion, but we will need to fund the rest. As you can imagine, we are afraid to lose precious time and as mother of an HH child, I hope I can give my angel a life without seizure which he can fully enjoy.
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