Gregor seemed perfectly healthy, except for a few minor colds he had no particular problems until the age of two.
The ordeal began when he entered kindergarten. From that time on he had fought 3 middle ear infections, 2 pneumonia, recurring colds and actually constant diarrhoea in one year.
Various antibiotics did not bring any improvement through the bank, because as soon as their effect faded, the next illness was announced.
Shortly before his third birthday it was already so bad that we desperately drove him to the hospital. After many examinations and tests, the doctors finally found out that he had no "B-cells" and that he was suffering from XLA, or agammaglobulinemia. He then immediately received the first infusion of immunoglobulins. In the beginning, this infusion was necessary every two weeks. Later, the interval could be extended to three weeks. Now that he goes to grammar school, it is only necessary every fourth week.
Thanks to this treatment he is now doing very well. He can lead a completely normal life without serious infections and other diseases.
The time from the outbreak of the disease until the diagnosis was a severe ordeal for him and his family. Especially the ignorance of what Gregor's future would look like was a hard time for all of us.
My son was born healthy but slightly overweight.
Because he was so heavy, the doctors said they had to take his blood regularly to see if he had diabetes he didn't, fortunately. But he got the jaundice so bad that he had to go to the incubator with UV-radiation for a few days.
Milan was often ill with bronchitis as a baby, once he also had pneumonia, otherwise the usual baby and toddler diseases. Not dangerous. He received all the vaccinations suggested in the Mother Child Pass, was well-fed according to the pediatrician and developed magnificently.
Sometime after his 13th birthday he suddenly got diarrhoea. Not too bad we thought, something wrong eaten, passes after a short time again. He got a medicine against diarrhoea. It did not help. So the pediatrician tried other drugs, which didn't help either...
After 4 months of continuous diarrhoea, the hospital ordered some examinations and suspected celiac disease. In addition, he continued to receive more and more and other medications to stop the diarrhoea - all without improvement.
After Milan's first intestinal biopsy could not confirm the coeliac condition, we were left with diarrhea but no diagnosis, and we went to one doctor after another, tried more and more drugs, but all without success, the diarrhea remained and Milan had already lost a lot of weight.
A few months, many diets and medications later, a colonoscopy was done again, a biopsy, a colonoscopy and countless other examinations. Meanwhile Milan had already passed 5 years with diarrhoea, he was only skin and bones, was weak, could not play football or do other leisure activities.
At the age of 18, one of the countless blood tests he had taken over the years revealed that he had an Ig-A deficiency, but the intestinal specialists all said that only the Ig-A deficiency could not cause his problems and did not go into it further.
Despite all the adversities Milan managed to pass his school leaving examination and decided to go to the graduation ceremony. In his frustration he even drank alcohol for the first time. Later I learned that he had stopped taking his medication out of desperation for several weeks. But all this had the consequence that he collapsed during the celebration. And even had an epileptic seizure. He was then rescued and taken to the hospital where the doctors said that we are lucky that he is still alive. After his release he was cared for by a neuropsychiatrist - because of his epilepsy. After the situation with the epilepsy and the medication was resolved, we were again looking for help against the diarrhoea .
His desperation grew, he talked about suicide, he didn't want more, his life was absolutely not normal for him, not worth living etc. He got pain from the diarrhoea which increased from 3.4 times a day at the beginning to 20 times and more over the years.
He could eat almost nothing of our normal food anymore...
Before his 19th birthday he was operated on a port catheter for intravenous feeding, but he had to be operated out again after 8 weeks because of continuous infections at the port aKath. Now he does not even have the intravenous nutrition. A doctor in this hospital then said that Milan was only hysterical and a hypochondriac. Milan is 181cm tall and weighed 49 KG. He's all skin and bone.
Then finally his Ig-A deficiency was taken up again and he got immunoglobulins from the immune system specialist first. However, as he had to deal with some side effects, he was adjusted to the subcutaneous immunoglobulin infusion (i.e. with a small needle under the skin).
Unfortunately his condition was already so bad that the immunoglobulins could only help minimally and very slowly. It took too long to find out about the immunodeficiency. His organs are already too badly damaged.
His condition is worse, physically and mentally, but the diarrhoea has decreased. He can now sometimes go for a walk and hopes to have a normal life sometime.
Fabio was our third child and was classified as healthy after birth. But already when we left the hospital he was sick with an eye infection for the first time. From then on, Fabio fell ill every month - from angina to otitis media, cough, rhinitis and always high fever. So in the hospital we were permanent guests.
When he was 16 months old (normally developed only with a somewhat unsteady gait pattern) he got very high fever that wouldn't go down with any antibiotics. In the hospital he also got angina. At that time at the latest I was sure that my child had some kind of illness.
Since I did not let up, a special blood test was done in the hospital, which showed a lack of IgG. After we had spent 4 days at home, we had to go to the hospital again - he had a middle ear infection, diarrhoea, diaper dermatitis and again high fever, although he was still taking antibiotics.
Now he was totally examined in the hospital. He was not spared nothing - he reacted completely allergic to a bee sting, ehex-toxin, he had sheep flutter and all kinds of infections.
In the meantime the suspicion of Ataxia Teleangiectatict (Louise Bar Syndrome = immune deficiency) had arisen and when he was 26 months old he was finally confirmed.
Then Fabio Immunoglobuline was given into the vein in hospital. Immediately it was noticed that his overall health improved. Fortunately, after a few months we were able to switch to subcutaneous administration of the immunoglobulins. I learned to stick a needle under the skin and to give an infusion under the skin with a pump (duration approx. 1 hour). It was a challenge for me as a mother to prick my child and sometimes a fight that Fabio remained sitting on his lap for so long.
At the age of 4 years Fabio learned to stick the needle into his stomach by himself. He was very proud of it. From then on, Fabio's life went almost completely normal. Yes - he has to get immunoglobulin infusions all his life, but he can live without hospital.
Fabio went to elementary school and had only 2 cases of bronchitis and middle ear infection during this time, but these could be treated well with antibiotics.
Now he is preparing for high school.
At the age of 19 months it was discovered by chance during a blood test that Judith had far too few leukocytes. After many examinations and several in-patient hospital stays, a diagnosis was made about a year later:
Myelocathexis and WHIM syndrome. This is an immune deficiency.
The interesting thing about this disease is that the patients are remarkably healthy, only if they have an infection once, it is very pronounced. It was the same with Judith. It was never like that she had a little fever in between, for example a cough turned into pneumonia.
Some years ago it was decided to give her immunoglobulins, at first this was done every 4 weeks, later it was changed to every 6 weeks.
In 2004 we were introduced to the possibility of injecting the immunoglobulins subcutaneously, i.e. an infusion under the skin, at home, This was much more comfortagle for Judith, since she missed the school every day and had to do the homework afterwards (for which she was sometimes much too tired). In addition, she had developed quite an aversion to stitches in the vein over time, which became a nerve test for everyone involved every time.
Since Judith is getting the immunoglobulins subcutaneously, she has no more infections and she can lead a pretty normal life without many hospital stays despite her immunodeficiency. Judith has finished high school. Unfortunately, she had a relapse due to the great stress of her school leaving exams. The infections returned despite her therapy. After the immunologist had checked the blood, he increased the dose of immunoglobulins for some time, as great stress unfortunately reduces the immune values. Immediately, the infections stopped again. After 4 months, we reduced the dose to the previous dose again without her becoming ill again.
Strengthened and full of verve Judith now began her studies and hopes that she will continue to do well with the immunoglobulins. Without this possibility of therapy, Judith would very often lie in hospital and have very severe infections and pneumonia.
I had a normal childhood with some infections, like all children around. I graduated from school and did an apprenticeship. After that I started working as a saleswoman in a big store. I got married and had 2 children. So my life was normal until my 35th birthday.
I got a fever and pneumonia and was in hospital for 3 weeks. After my release I was very weak. All of a sudden I started to have blisters in my mouth the size of a thumbnail. I could no longer eat anything and could only drink something with a straw. In the hospital, after many different medications, they were a little perplexed. Nothing helped. The blisters disappeared after 6 weeks but small ulcers developed in my mouth. Even the painful treatment with lapis pens in the hospital was only partly successful.
At the age of 37 years and numerous pneumonia and hospital stays I got strong pains in my lower abdomen. After many examinations the doctors thought I had Edometriosis. During an operation, the adhesions in my stomach were loosened and removed. But the pain and inflammation in the intestines remained. All the doctors I visited did not know what to do after several attempts to take medication.
At the age of 40 I had lost my job because I had too many sick leaves. I was desperate. I sat at home and scrolled around in the internet. I discovered ÖSPID, the Austrian Self-Help for Primary Immune Defects. I read on their home page that an immune defect could cause pneumonia as well as inflammation of the intestine. I contacted the self-help group and asked for help. Here I was referred to a specialist in immunology, who immediately diagnosed CVID after taking a blood sample to determine the immune values.
As medication I was given immunoglobulins. I had to learn to stick a small needle into my stomach. With the help of a pump, the infusion of immunoglobulin then flows into my body. I could not believe it - it helped. The pain stopped and pneumonia didn't occur anymore.
It was just astonishing to me that CVID is a primary immune defect, i.e. it is a genetic inheritance. Nevertheless, the disease did not appear in my case until I was 35 years old.
If I had not received this therapy with the immunoglobulins, I do not know how I could have lived on. But now I lead a normal life, have found work again and look forward to every new day with my family.
My son Daniel was born in 1992. At birth he had a real umbilical cord knot and did not scream immediately. I breastfed him and noticed that he often had little or no appetite. This condition worsened after the first triple vaccination (Di-Tet-Pert) at the age of two and a half months. From then on I had to have my son's weight checked weekly at the mother's consultation, as he had lost weight even during this time. I thought very often about how I could feed him better, but I had to realize that he simply could not eat any more. On his first birthday he had just over 9 kg. From the age of 13 months on he had affectionate seizures, which always occurred suddenly and without fever. In the beginning he was sometimes unconscious for a longer period of time. Later I learned that his father's sister also had such seizures in infancy. On his 2nd birthday he had such a seizure again. I found him lying on the floor and did not bring him back to consciousness for the time being. Since his breathing was working, I gave him suppositories. The helicopter picked us up. The paramedics said he was just sleeping. When we got him to the hospital, he woke up.
The cramps got better. His last attack was when he was 4 years old. After a few seconds of unconsciousness, he just kept walking as if nothing had happened. Tricycles and pedal cars were avoided out of fear, at most they were only driven for a whole meter on a trial basis.
At about 3 years of age he got bronchitis and middle ear infections more often. In the winter after his 4th birthday he had pneumonia twice. Lung x-rays were made again - no noticeable findings. During a later check it turned out that he had been X-rayed lying down at the time of the last lung x-ray. Now it was found that he already had a real hole in his lung, but this could not have been seen on the x-rays taken lying down.
In the summer after his 5th birthday he suddenly could no longer sleep lying down at night. He wanted to spend the night sitting down. Since he was getting worse and worse, we drove to the doctor on duty at night. There he felt much better again (after a 10 km drive in a sitting position).
From there we were sent to the children's ward of the hospital with suspected appendicitis. While listening to the lungs, nothing could be detected. The doctors offered me that I could wait there the rest of the night until 8 o'clock in the morning to have a lung X-ray done.
This one showed water in the lungs in addition to the hole. The doctors quickly clarified the situation. Unfortunately, his recovery made little progress despite venous administration of antibiotics. On the 11th day of his stay in the hospital I learned about the problems with the immunoglobulin levels. From then on he was mainly treated in the children's ward of the hospital.
Especially after this longer stay in the hospital after his 5th birthday it was a huge change for us. He often spent many hours a day on infusions, sometimes with immunoglobulins, sometimes with antibiotics. For 8 years he was regularly treated intravenously, the last time in two-week intervals, with immunoglobulins.
As a layman and mother, the veins caused me great concern, more than the organizational effort that always came with it. Fortunately for us all, he was able to switch to subcutaneous treatment, i.e. infusion under the skin, before his 13th birthday. However, it is a great relief for everyone, as Daniel no longer has to spend his time in hospital with infusions. We can administer the subcutaneous amount of immunoglobulins at home in his familiar environment. After switching to the subcutaneous administration of immunoglobulins, his health improved noticeably and he also gained some weight again.
After some time, however, he got a very severe conjunctivitis. His eyes were severely reddened and so swollen that he could see nothing at all. All the medicines did not help him. Only when we went for a check-up with my Immulogolen was help given. His dosage of immunoglobulins had to be increased because he had grown and gained weight. In addition, a permanent therapy with antibiotics was ordered. After one ½ year the conjunctivitis was also over. He could then stop taking the antibiotics. Unfortunately, he will remain very susceptible to inflammation of the eyes for the rest of his life.
Despite the many problems and setbacks Daniel managed to finish school and even attended the HTL. Thanks to the immunoglobulins, Daniel can now live an almost normal life.
My name is Karin Modl, I am 58 years old and suffer from PID - Primary Immune Defect.
My ordeal began when I was a small child. I was always sick, pale, underweight. In the 1st elementary school I missed ¾ of the school year because I had gland inflammations and several pneumonia. The many doctors we visited only said that I was a bad eater and that at that age (until the end of primary school) many children were ill, that was normal. When I was 12, I got bronchitis after every small cold. But it lasted 8-10 weeks. There was only about 2 weeks until the next cold, then the next one came. Again, nothing unusual was found, I was given antibiotics, cough syrup and so on.
So I still managed my school time (often missed school, had to relearn a lot or take exams), went to commercial school and then started working in the bank. Here I had great difficulties with my work colleagues and my boss. They didn't want to understand that I was always staying at home in the hospital because of "harmless" infections, which everybody has at one time or another. Then I got pregnant. My first pregnancy I spent 8 months in hospital, lost 20 kg and after the birth I got mumps. I continued to visit a number of doctors and was finally labelled a hypochondriac. Many people said - pull yourself together, if you only three times never know you think you are already seriously ill..?!
At the age of 32 years I got the diagnosis "lymph gland cancer" with chemotherapy during a visit to the hospital where I only wanted to check the iron values. I ended up in the intensive care unit where the chemotherapy was stopped again. Because I was permanently cold during these following treatments, I was given antibiotics for weeks. After a few weeks then the revocation, it was nevertheless no cancer. Now I was told that I had a "Burn Out Syndrome" and sent me to a psychiatrist. After this statement I fell into a hole, because I felt that I had some kind of disease inside me.
During another hospital stay I was accidentally found out that my IgA levels were too low. One doctor then tried, against the advice of the other doctors and against all medical textbooks, to give me immunoglobulin infusions (the textbooks said that if I had an IgA deficiency, I should not give immunoglobulins at all because of the danger of anaphylactic shock). Against all expectations I managed it for the first time in years, 5 weeks without infections. So I continued to get these infusions with immunoglobulins every three weeks. Although I was told that they assumed that I had an immune deficiency, nothing could be done with it and I had to live with it.
It was not until I was 41 years old that I found a doctor at the AKH (although a paediatrician) who knew about immune deficiencies. Here I also found out, after taking a blood sample and determining my immune values, that I really do suffer from an immune deficiency and that it is possible to give immunoglobulins subcutaneously (i.e. under the skin), so that I did not always have to rely on the hospital. I learned this and a new life began for me. From now on, as the subcutaneous administration of immunoglobulins is administered weekly, my body had enough resistance and a new life almost without hospital began for me. Unfortunately, my lungs, among other things, have been damaged by the many years without proper treatment, which are irreversible. I could have lived a normal life if a doctor had really dealt with my illness!
So the questions remained for me - why did my suffering have to last for 41 years? Why did it take so long to recognize my illness (although all the classical symptoms were present) and to treat it properly? Why was I not taken seriously by the doctors and even sent to a psychiatrist instead of a simple blood test and controlling my immune system? Why ...???
After some time I understood that the doctors themselves could not help me. They didn't learned about the subject of immune deficiency in their studies.
I am so happy that I finally found the therapy with immunoglobulins and I am very grateful to all the people who donated plasma for me so that I can get my vital medication. YOU are my lifesavers!