It has been a long journey to get where we are today. So much has happened in the past six years and so much is still to be overcome and accomplished. So much have changed in these years – it is difficult to see now how it used to be before Sophie was born. What dreams I had, what plans I made – everything had to be put away and a new plan for the new life had to be made. But how do you approach something that you had never experienced or seen before? No expectations. And if there are any expectations, be prepared to be disappointed. I guess the only real way to move on is by trying, making mistakes, and learning as we go along. This story is about my baby girl and the changes she brought to our life. Some amazing changes and some not. I want to share what we have learned from our experience so far to maybe help someone to realize what their life means to them and what opportunities they might have in front of them.
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“As soon as you trust yourself, you will know how to live.”
Johann von Goethe
In July of 2014 my husband Amir and I welcomed our beautiful baby girl, Sophie Alexandra. She was as healthy and as happy as any healthy newborn baby could be. She was doing so fine and developing on schedule – we could never imagine that something would go wrong. However, we were about to face challenges that we were not prepared to overcome. Challenges that immobilized us not only physically, but also mentally. We were not prepared for them – no one can be prepared for this new kind of life.
At about one-week-old, Sophie started to spit up milk after breast-feedings a bit more than she should. Gradually the spit ups got accompanied by her whole body tension or little shakes. As any other parent would, Amir and I got worried. As the shakes started to intensify, we took Sophie to an allergy specialist. My concern was that Sophie might be allergic to my breast milk as I was to my mom’s when I was a newborn. Doctor denied the possibility of it even with my history. He refused to do an allergy test and suggested we took her to emergency clinic. That was exactly what we did. After a quick examination of Sophie’s abdomen and recapping of her behaviour, ER doctor diagnosed Sophie with Acid Reflux. Acid reflux is a condition in which acidic gastric fluid goes up into the esophagus, causing a heartburn. Sophie was put on anti-reflux medication called ‘Ranitidine” which was working and helping like magic at first, but with days, it gradually allowed symptoms and shakes to reappear. We had to go back to ER to increase the dose multiple times. What we have learned is that the severity of acid reflux condition is different from child to child, with the worst being named the Sandifer Syndrome which is estimated to occur in less than 1% of children with reflux. “Sandifer syndrome is a condition that involves spasmodic torsional dystonia with arching of the back and rigid opisthotonic posturing, associated with symptomatic gastroesophageal reflux, esophagitis, or hiatal hernia.” – credit to MedScape.com . At this point, it was suggested thatSophie had Sandifer syndrome. Suggested because Sandifer syndrome was rare and not commonly known by doctors, as we understood.
Eventually, when she was almost 2 months old and after 5 visits to ER, the Ranitidine was no longer helping and we were advised by another ER doctor to switch her to a different medication called Omeprazol. “Unfortunately, it will take 5 days for the medication to kick in and work” – the doctor said – “ So she will be without relief for 5 days”. That scared us. We knew that she might get much worse without the medication but we had to trust the doctor and give it a try.
Slowly Sophie was getting worse and worse with each day, to the point that she could not sleep from the amount of shakes and their intensity. On the fifth day of no medication, it happened… I gave Sophie a bath and put her to my breast to feed and she started to shake and tense up so much, there was no longer an eye contact or a grasp of my finger – Sophie was having, what looked like, a seizure. Horrified, I called up my mom and we decided to call an ambulance as what we were seeing was much more serious.
The ambulance came and diagnosed Sophie with seizures and advised to take her to an ER as the episodes continued over and over again in about 10 min intervals. In the ER the nightmare had begun and I no longer had a clue what to do or how to help my little angel. I knew something was really wrong but I could not help her myself and now must put her in the professional hands of strangers. After unsuccessful doses of the anti-epileptic medication, doctors decided to sedate Sophie completely, put her on a breathing tube so they can do all the necessary tests to figure out what is going on with her. While they were doing that, I was sitting outside of the room and waiting for Amir to arrive. By the time he got to the hospital, Sophie was already deep asleep, no longer crying and ready for a CT scan and other procedures.
My husband and I had been trying to explain to the doctors and nurses that Sophie is suffering from a severe form of acid reflux and that we would like them to also investigate that area. We requested a digestive specialist. We were told that since Sophie came to the emergency with seizures, only her brain will be investigated and refused us a gastrointestinal specialist. We were also told that it was a coincidence that Ranitidine worked for Sophie because all the episodes she previously had, no matter how light, were epileptic seizures. Sophie was diagnosed with Epilepsy.
The world seemed to shatter around us as our baby girl was being transferred to an ICU.
We stayed there for 4 days. After 2 days in sedation and numerous tests and swabs, Sophie was finally allowed to get off the tube and slowly wake up. It was a painful period of time. She was so swollen from all the medications doctors were keeping her on. We were just trying to stay positive and understand this new perspective of her condition and what it meant to her and our life. When we were finally allowed to leave, doctors insisted on keeping Sophie on a daily dose of Phenobarbital to control any future episodes and, per our request, they put her back on the last given dose of Ranitidine. Amir showed his concern about giving Sophie a Phenobarbital without proper seizures activity MRI diagnosis. The assistant to a neurologist assured us that there are no side effects to the Phenobarbital and that we are safe to give it to her until the MRI is done in 5 months time. At this point Sophie was stable and we were so happy to go home and start adjusting to the new norm.
After a deep investigation into the side effects of the Phenobarbital, I have learned that this medication, if given to small children, will cause developmental delays. I have immediately contacted the doctor who prescribed the medication to Sophie and asked for explanations and their opinion on the side effects that may harm Sophie. Everything was denied and I was told that if I do not see any developmental changes right now, then everything is okey. During this time, Amir found a research team at Georgetown University, USA that was studying phenobarbital and other anti-epilepsy drugs on rats and this is what he learned:
“ In Annals of Neurology EarlyView posted online May 11, researchers at Georgetown University Medical Center (GUMC) report that the anti-epilepsy drug phenobarbital given to rat pups about a week old changed the way the animals’ brains were wired, causing cognitive abnormalities later in life. … “Our study is the first to show that the exposure to these drugs – and just a single exposure – can prevent brain circuits from developing their normal connectivity, meaning they may not be wired correctly, which can have long-lasting effects on brain function,” says the study’s senior investigator, Karen Gale, Ph.D., a professor of pharmacology at GUMC.” These findings suggest that in the growing brain, these drugs are not as benign as one would like to believe.” The researchers also tested the effects of the drugs after the pups reached early childhood, and found that those treated with phenobarbital were slow to learn…. “This is an important bridge between molecules and behavior that helps us to understand how early life drug exposure can permanently alter behavioral function in later life of the rats.” Patrick A. Forcelli, Ph.D., a postdoctoral fellow in the department of pharmacology and physiology at GUMC says. ” – www.explore.georgetown.edu “New Study Raises Questions about Use of Anti-Epilepsy Drugs in Newborns”
Immediately Amir contacted the research team for more information and very shortly received a reply from Patrick Forcelli:
“…while phenobarbital may be a contributor to Sophie’s delays, as I’m sure your physicians have told you, it is important to rule out other factors as well. … While there isn’t much clinical or preclinical data on this topic, there are a lot of anecdotal reports suggesting that kids that have developmental delays with phenobarbital often improve when the drug is removed. Unfortunately, we do not have a way to reverse damage to the brain (regardless of the cause); that is why one of the goals of our research is to identify treatments that minimize or avoid side effects.”
Our physicians and the doctors at the ER did not inform us that the medications they are giving to our daughter to presumably stop the seizures, are in any way dangerous. Phenobarbital is not the only very dangerous medication that was given to Sophie – midazolam, propofol, acyclovir, ampicillin, and ativan (also known as Lorazepam) were also given. It would take forever to list all the side effects these medications have on newborns and young children, but the list includes poor brain development and death. Interestingly, in 2015 when I was looking into researches about the medications, I easily found the data describing death as one of the side effects and that it is restricting from giving this medication(s) to babies and very young children. However, now I cannot find any of those researches – the phrase that is used in the description of the medications is that the prescription of a medication depends on the doctor’s judgment if “the benefit (of the medication) to you is greater than the risk of side effects.”
After MRI results were in, we were told by the neurologist who prescribed Phenobarbital that Sophie does not have the epilepsy and that it is most likely that she has Sandifer Syndrom. The doctor ordered to stop giving Sophie Phenobarbital after 5 months of her taking it. After a view months of experiments with Sophie’s diet, we have realized that the shakes were fully stopping when we stopped giving Sophie cow’s milk and yogurt. We tried to bring the yogurt back to her diet in a few months just to see how she will react and the shakes would come back. That is when we decided to stop the milk products for good and that is when we no longer observed any shakes.
I have filed a complain to The College of Physicians and Surgeons of Ontario for investigation of unsuitable medication prescription and misdiagnosis of Sophie during the ER and ICU visit. We also consulted a lawyer for a professional advice. The lawyer’s argument was that we would be going against pharmaceutical and not just doctors. That kind of case would need many more families to come out and bring out their cases and proof. But how do you prove something so sensitive and difficult to observe? We had no support or finances to fight the Pharmaceutical.
We did multiple genetic tests and all came negative, besides one – a full genome sequencing (this is when blood is taken from parents and a child and compared to find where the gene mutation comes from or if there is a risk for a disease). Usually it takes close to 8 months to get the results of this test. Not in our case. While under investigation with a due date for the reply from CPSO coming up, the test was ready in only 3 weeks as per the report given to us in a photocopy format. Very conveniently just before the CPSO decision. Sophie was diagnosed with STXBP1 genetic mutation which is a “de novo” which means not observed in either of the parents. Also, the variant of the gene is unique and the only one reported to date which means that it is very difficult to predict how Sophie will develop and what challenges await us. Doctors cannot say for sure how Sophie will grow and develop. Everything is an assumption and that only breaks us more to know that we do not know what to expect. To read more about STXBP1 genetic mutation please visit STXBP1 Disorders official website .
Of course the CPSO denied misdiagnosis and wrongly prescribed medication. They even claimed that my judgment and memory was bad because of the stress I was in in the ER and ICU. That the doctors did everything “by the book” and did tell us of the side effects, but we just do not remember because we were in shock. Trust me, I remember every little detail of that horrifying experience. When an anesthesiologist came in to take Sophie from breathing tube, she asked me if I would like to take pictures of Sophie with all these tubes and wires coming out of her for my memories… PLEASE tell me, what kind of memory is that? As if this is something so exciting to commemorate. Then the EEG old specialist came in and was asking a nurse repeatedly to sedate Sophie so she can put stickies on Sophie’s had because she cannot do it – Sophie is moving. Sophie was not moving, she was connected to so many machines, there was no way that poor girl could swirl away from your stickers.
Never the less, CPSO denied everything. Another big shock was to find out that the published research on which we relied and which we quoted to CPSO was pulled off the website (you will not find it there anymore) and Mr. Forcelli stopped replying to our emails. Would you call it a coincidence? I don’t think so. We knew that now we are all alone and there is no way to prove that our baby girl was so hurt and damaged without a chance to recover. It is very possible that the medications given to Sophie at ER and ICU visit caused greater damage to her development. The problem is we can never prove it or investigate it. All STXBP1 children and adults are at different levels of development – some walk, some have a bit of a vocabulary, some are very comfortable with use of tablets and eye gaze devices for communication, some are not mobile at all, and others can run and play. Sophie is just different – unique in her own special way – regardless of medication danages.
And what about the Ranitidine that Sophie was using on and off for 3 years? It was found by an online pharmacy that does testings on medications before dispensing them that Ranitidine developed dangerous levels of NDMA (powerful carcinogen n-nitrosodimethylamine) “NDMAis classified as a probable human carcinogen(a substance that could cause cancer) based on results from laboratory tests.” – from https://www.fda.gov/news-events/press-announcements/statement-alerting-patients-and-health-care-professionals-ndma-found-samples-ranitidine
“David Light, CEO of Valisure, is glad ranitidine is being removed from the market, but he doesn’t believe the problem has been solved completely. “The FDA was originally focused on manufacturing, which I can understand,” he said. “But if ranitidine is unstable enough to fall apart during storage and transportation, it underscores the concern for what happens when you put it in the human body, where the stomach has thousands of enzymes whose whole job is to break things down.”
While Woodcock sought to reassure parents who have given their infants prescription ranitidine to treat reflux, saying the agency doesn’t believe there’s a significant risk, Light feels it’s too soon to tell. “Any exposure at developmental stages in life can be substantially worse than as an adult,” he said.
Valisure is working with Memorial Sloan Kettering Cancer Center on disease studies. They hope to identify specific cancers associated with Ranitidine, as well as how much exposure is required.” – from https://www.webmd.com/heartburn-gerd/news/20200401/fda-requests-zantac-be-pulled-from-the-market
Since we stopped the milk products, Sophie did not have any shakes for two years, however, her overall development was still very behind – it seems to be at an age of a 6 months old child. Since 2018, for two years now, Sophie has been suffering with unknown painful episodes every single night! These episodes range from quick slightly painful (as she does not cry and does not shake much during them, only wakes up) to very strong when she shakes extremely hard and cannot respond to us calling her. Mostly, the episodes are strong enough to make her cry through the episode and afterwards, and have an eye contact and a hand grasp with us. For two years we have been trying to involve many doctors to find out what is wrong with Sophie and how to help her. The only tests that were done are the EEG that showed nothing suspicious and bowel’s cleansing that also did not bring resolution. Now we are waiting for a 24-to-48-hour EEG which, according to our new neurologist, should take at least 5 months to book… so we will wait another 5 months of painful and sleepless nights.
Our physiotherapist found no reason to give Sophie intensive therapy, stating that she cannot tell if the physiotherapy is bringing any results or Sophie is developing the skills on her own. From my communication with other parents with STXBP1 children all have benefited exactly from the intensive physiotherapy treatments as the problem is not in the child’s understanding what she/he needs to do, but in the constant repetition of the movements until they become automatic. Only this way the child will learn and achieve progress. Our physiotherapist did not agree with us and cancelled the 2-times-a-week treatments we were getting into once a month.
We also requested an eye gaze device for Sophie as many STXers use them to communicate, but even here we have faced a road block because they cannot tell if she would be able to use it. So cannot try it out if they do not see that she is capable of using it. Where is the logic in this?
The difficulties we meet with doctors and therapists are mostly with trying to explain about Sophie’s problems and needs. I can understand how difficult it must be for a doctor to hear me explain a new condition which doctor has never heard of and she/he must give me some answers based on my information, while I do not have any medical education. Doctors are taught to ignore parents’ judgment and requests and base the treatment plans strictly on medical data and information taken from available tests and observations. This strategy cannot work with Sophie’s diagnosis as it is so rare and unknown. I feel that at this point I do know and have more information about Sophie’s condition that any other doctor. Doctors shrug their shoulders and begin guessing as what might work or happen. This often means misdiagnosis and not suitable program building. Considering all this, we can only prepare so much for what is ahead for us and do our best to keep Sophie comfortable and stable whatever it takes. Trusting in myself, my own power and knowledge has become so important for not only Sophie’s well-being but also for my family’s and my. Never in my life before have I thought that I would be reading through so much medical data and research papers. How much I wish there were more information available on Sophie’s genetic mutation. And how much I wish it was fixable.
Sophie’s physical and mental development is quite behind: she does not walk, stand, or crawl, does not talk or chew food (unless I place it behind her cheek) – most of her meals are mashed or ground. I count the hours between meals so that Sophie does not feel hungry as she does not indicate when she is. She cannot take care of herself in any way: she does not point at things she wants, but she can grab things in front of her. She can gaze at the things she wants that are in front of her but far from reach. However, if that something is not within her observation, then Sophie gets frustrated: cries and screams.
Sophie has a low muscle tone and that makes her arms shaky when she tries to reach for toys or other things. This makes it extremely difficult for Sophie to feed herself and challenging enough to play with toys. Sophie figures out the ways to play with toys, but for sure it is not the same way most kids approach toys.
Sophie is an extremely happy girl. She loves to laugh and understands others playing with her and making her laugh. She recognizes her family and people she has seen before. She has her favourite toys and cartoons. She loves music and flipping books. Her favourite singer is Michael Bublé. Recently Sophie found an interest in playing piano – she is still very gentle with it and does not have much patience, but she asks to be put to it and enjoys touching the keyboard. She absolutely loves water – swimming is her favourite sport and with the arrival of fall and lack of beach time, Sophie gets frustrated and very upset. Lately, we have noticed that Sophie understands much more and it seems to be making her so upset with us that we do not understand her. I cannot even imagine how my baby girl must be feeling, but I am trying very hard to comfort her and make sure that her needs are met.
Sophie’s understanding is different and I cannot tell what is going on in her mind, but I can tell that she knows, feels and wants things. Sophie is gentle and loving girl and I only hope everyone can see that and learn from her to be as loving and kind and enjoy life no matter the challenges.
Trust yourself enough to be brave to take the steps ahead without expectations but only with enjoyment for the moments experienced AT THE MOMENT.
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“There are two ways to meet difficulties:
You alter the difficulties or you alter yourself to meet them.”
Phyllis Bottome
My life before Sophie was different. I thought it was hard but I know now it was easier…not easy but much easier. Now I feel as if I am learning to live all over again. Sophie’s disability means an absolutely new lifestyle, the one that is not written about in any book. It is challenging. It is breaking and rebuilding. But it is also loving in the most beautiful and warm way.
Being a parent to a child with special needs is indescribable. The learning process never stops, the giving process never stops either. It is a constant movement of thoughts and actions – I mean you cannot take a vacation from thinking too much. But you can surely remember to breathe and love yourself. Loving yourself is so very important when you are facing difficulties. Whatever it might be that is preventing you from having a healthier and more comfortable life, accepting the fact that you are in the situation you are in, is the first step forward a better life. Taking good care of yourself with love and acceptance would be the second step. And this step includes doing all the wonderful and adventurous things you never thought you would ever do. Step three would be to acknowledge that this is the only life you have to live and there is no time to waist it on anger, hate, anxious decisions and other people’s demands. No time or need to waist this very precious life on negativity. Find peace and find the benefit in the situation you are in right now. There is always something great even in the most difficult of situations. Life will end regardless of if we want it or not, if we are ready for its end or not. Grasp this moment right now and make the very best out of it. Have fun! I know Sophie would tell you to go outside right now and run as fast as you can, swim as deep and as far as you can, create whatever you would love to create, make yourself happy and that will inspire others around you to do the same.
If I have learned anything from Sophie, it would be an incredible patience, acceptance not to give up or give in (to anything or anyone), but to move on and progress, even if it means to let go of something or someone. It is so important not to let others to use or control you. I have also learned to prioritize myself above all – knowing my worth. It is easy to forget about yourself when you are faced with difficulties, but actually this is exactly where you need to look at first. My husband, my best friend, my base and my support – he has become undoubtedly my guide and my best self that needed awakening and bravery to recognize what was important and what was at stake when everything seemed to be crushing down on me. Amir helped me to realize my best abilities in healing myself so that I can help Sophie to grow as healthy and as strong as possible.
Raising Sophie is taking an effort of everyone in the family, including my two older sons and mom. There would be no such progress in our lives without the team work. And not only family but also the work and help of those close to us who cared to help in any possible way. Amir and I are so grateful to every single person who has ever found time to support Sophie in so many ways.
Every life is precious and great things can come from every single one of those lives. Give it a chance – be unique as you are, be creative as you wish, be caring for yourself and others as you wish others cared for you. No expectations, remember?!
For now, this is where we are in life with Sophie’s progress and development. We are looking forward to her new milestones and hoping that scientists may find a cure one day soon, so we can finally tell Sophie how much we love her and how much we appreciate her and know that she understood us. That would make my life worth living a whole 100%.
I would love to thank everyone who has followed us on our journey so far and who have stood by us in the most difficult of times. All the new friends we made and some that we lost – all have made an impact that made us better understand our journey and its importance.
I am wishing you all the best and hoping you live your life with the same kind of appreciation for all the little things that come your way.
November 1, 2020
Kseniya Ali
P.S.: November 16th, 2020
Sophie’s health update:
Today early morning, while asleep, Sophie had a real seizure with lip smacking, full body tension and shacking, eye rolling and lack of response. The seizure lasted about 30 to 40 seconds it seemed. After the shacking stopped, Sophie’s body was still paralyzed for another 20 or so seconds which scared her as she was trying to move. I have never seen such a seizure so it also scared and shocked me and Amir. So far, Sophie is doing fine and there have been no more seizures. I hope they never repeat again.