When Alicia received her first neurological diagnosis, it was a difficult time for all of us. At least there was hope for treatment and better future. However, it turned out that despite this diagnosis, the road to treatment is even more difficult than we thought. Although it seems impossible, the story itself is like a movie. Now everything is even more complicated. Alicia has inflammation that must be cured before the surgery in Barcelona. This requires a small surgery at a hospital in the UK. However, due to the fact that Alicia is probably suffering from mast cell activation syndrome (MCAS) and she has had anaphylactic shock, she must have allergy tests for anaesthesia. In addition, she takes medications that help to stabilize her Postural Tachycardia Syndrome (POTS) to avoid severe pressure fluctuations and too high pulse (read about prof Mathias and POTS diagnosis- Alicia`s story #5).
Dr Alan Hakim
This week we had an important appointment with another specialist in London. After five months of waiting, we finally met Dr Alan Hakim at The Wellington Hospital in London. We were told that Alicia suffers from another illness – Ehlers-Danlos Syndrome (EDS). This explains why he has so many symptoms. She had the right to be weak, she had the right to say that her body hurts, she had the right to faint after a short walk. Probably she suffers from this disease from birth. Dr Hakim became acquainted with Alicia’s story from childhood, he thoroughly examined her joints and skin, he looked at pictures of various symptoms and carried out many other studies in his clinic.
Today we know what could indicate that her body was fighting not with ordinary infections, but it was struggling with a condition that attacks every part of her body. Doctor Alan Hakim explained to us what other diseases are connected to Ehlers Danlos Syndrome by drawing a very pictorial scheme and said what other medical tests Alicia requires. Dr Hakim is not only a great expert on rheumatology and Ehlers Danlos Syndrome, but he also knows the related medical problems as well.
Important information for those interested in EDS – An appointment with Dr Hakim can be booked here www.alanhakim.com. Dr Alan Hakim welcomes patients at London’s The Hypermobility Unit at The Wellington Hospital – Platinum Medical Center near Regents Park. Although it is a private visit, you need to wait several months. In our opinion, it is worth waiting and paying. The visit costs 300 pounds. He is one of the best specialists in Great Britain and at the same time an extremely empathic person. The clinic also has specialists in other fields who deal with patients with Ehlers-Danlos Syndrome.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome (EDS) is a group of rare diseases that affect the connective tissue. Connective tissue provides support in the skin, tendons, ligaments, blood vessels, internal organs and bones. The connective tissue connects and simultaneously separates, keeping everything in its place.
Different types of EDS are caused by defects in some genes that weaken connective tissue. There are several types of EDS that may have some symptoms, including increased range of joint mobility (joint hypermobility), stretchy skin, delicate skin that easily breaks or bruises. In EDS, a gene mutation causes a certain type of connective tissue (depending on the type of EDS) to be fragile and extensible. This stretch can sometimes be seen on the skin of a person with EDS. People with this disorder may also be able to stretch their joints further than healthy people. Therefore, it turns out that many ballet girls and gymnasts may suffer from EDS. The disease primarily affects women.
Ehlers – Danlos syndrome can affect people in different ways. Because collagen is found throughout the body, people with EDS tend to have a wide range of symptoms, most of which are less prominent. It is easy to notice skin changes and in the joints. Symptoms usually include long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders. Such problems and their severity vary considerably depending on the person, even with the same type of EDS. In some people, the condition is relatively mild, while in others the symptoms may lead to “invisible disability”. Some rare heavy types of EDS may even be life-threatening.
There are 13 types of EDS according to the updated classification in 2017. Dr Hakim said that Alicia`s EDS type is hypermobile. In the future, Alicia may need detailed EDS classification tests. Unfortunately, POTS and MCAS often co-exist with Ehlers-Danlos Syndrom. There is no cure for EDS, but you can relieve the pressure and prevent dangerous complications associated with the disease.
What will happen to Alicia?
No one except Prof. Mathias and Dr Hakim has yet connected all the dots. Nine years ago, were in a hospital et the connective tissue ward. Twice, in two very good hospitals in Poland. There were suspicions of lupus, scleroderma, myasthenia gravis, boleriosis, but nothing was diagnosed. So she was left with pain without a diagnosis, but she was getting better every day. We worked a lot. She also did a lot good things for people. She always helped someone and often more time for those who were going poorly in life than for their pleasures and rest.
She looked after children who needed love and warmth. She helped people in depression. She did workshops for seniors. I have learned that it is that she loves people, most vulnerable ones. When she felt good, she had so much energy I believed that she would always be so strong that no disease will overcome her However, the last year was like a horror movie. Ambulances, hospitals, drip, shock, bleedings, seizures, breathing problems, disorientation, confusion and constant pain.
We already know that Alicia suffers from Ehlers-Danlos syndrome (EDS), Postural tachycardia syndrome (POTS) and is highly likely to also have mast cell activation syndrome (MCAS). Although we know more, I admit that there is still fear and daily struggle with suffering. EDS was able to induce not only cervical instability and spinal cord compression, but also collapse of the upper airways. Alicia was referred to another specialist, this time a professor of ENT.
I wonder how many more doctors we must visit and about what diagnosis we will hear. After all, the list of diseases is already long. Too long for one woman. We are still learning how to function in this new world. I thought the surgery was the biggest challenge. Alicia is so weak, but she still smiles and always says in the morning, “God, thank you for the next day, that I woke up and that we could be together.”
Our way to diagnosis was difficult, but now we know what we are fighting with. We will not give up. Thank you for the wonderful doctors we have met in the last three months and thank you for your help, comfort and care. Thank you for being with us! We are so grateful for every support!
Thank you for your donations. You can help us here – www.gofundme.com/liferoralicia.
Alicia is on the edge and needs your help now. She suffers from rare diseases and is going to have life-saving surgery. We also need to raise funds for additional costs related to a neurological surgery in Spain and further medical tests for EDS, POTS and MCAS. Please, help us to Save Alicia`s Life.