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Have Asthma, Taking Tilade And Symbicort, Convulsions, Ear Problems, Tonsillitis, Sinus Infections, Headache. Do I Have A Genetic Disorder?

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Posted on Sun, 8 Jul 2012
Question: Hi, I am 18 and have been sick my whole life, just one thing after the other.
-Have always had bad asthma am currently on Tilade and Symbicort also ventilon when needed and get a lot of chest/lung infections, right now I have bronchitis again, saw a lung specialist and found out about a few allergies and had to give away may cats which has improved my lungs but still getting infections.
-Was put in hospital a few times when I was 3 for convulsions
-Have always had bad ears, had 3 sets of grommits as child then one got stuck in my ear so had to have an operation to have that removed, my ear drums have also ruptured a few times, my ears are a lot better since the grommits as a kid but I still gets ear aches/infection and sometimes have trouble hearing
-Had my tonsils removed last year after having tonsilitis 10 or more times year for a few years
-Have always had problems with my nose, last year I had a septoplasty and a bilateral inferior turbinate reduction and had my blood vessels cauterised, sicne then my breathing had improved and no longer get the hour long blood noses I was getting but am still getting sinus infections
-I get chest pains on and off which a couple of years ago I was told is most likely costochondritis
-I get a lot of headaches and sometimes migrains, a few years ago I had a head ct and nothing obvious was seen
-two years ago I had my appendix removed, have had ruptured ovarian cysts a few times, get a lot of severe lower abdoman pains and recently had a diagnostic laparoscopy and was found I have bowel and fallopian tube adhesians and my uterus has moved to the left side rather than be in the middle.
-I am always feeling sick, always tired, veryoften have trouble breathing and have lung and sinus infections, and am struggling going to school and work due to this and my lower abdoman pain. It is always one thing after another and my question is, could it be possible I have a gentic disorder, like an immune deficiency or something? Should I see a geneticist or immunologist or something? I need some help please!
Thankyou so much.
doctor
Answered by Dr. Hema Yadav (2 hours later)
Hello ,
Thanks for posting your query.
I understand your concern and appreciate your efforts as a vigilant and health conscious individual .
Though a comment on diagnosis of such a condition requires thorough clinical evaluation of the patient ,one can say that underlying immune mediated disorder could be a possible reason for your problems.
Primary immunodeficiency diseases occur in persons born with an immune system that is either absent or hampered in its ability to function. While not contagious, these diseases are caused by hereditary or genetic defects and can affect anyone, regardless of age or sex. There are more than 150 primary immunodeficiency diseases – some are relatively common, others are quite rare.
And while the diseases may differ, they all share one common feature: Because one of the most important functions of the normal immune system is to protect us against infection, patients with primary immunodeficiency diseases commonly have an increased susceptibility to infection.
The infections may be in the skin, the sinuses, the throat, the ears, the lungs, the brain or spinal cord, or in the urinary or intestinal tracts, and the increased vulnerability to infection may include repeated infections, infections that won’t clear up or unusually severe infections. People with primary immunodeficiency diseases live their entire lives more susceptible to infections–enduring recurrent health problems and often developing serious and debilitating illnesses. Fortunately, with proper medical care, many patients live full and independent lives.
So considering your history it's advisable you consult a genetist or a specialist in immunology to study your case and order appropriate investigations which include blood investigations , biopsy etc to confirm a diagnosis and rule out a systemic or immune mediated illness .
Hope this information is helpful to you.
Wishing you good health.
Regards


Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
Answered by
Dr.
Dr. Hema Yadav

Pediatrician, Infectious Diseases

Practicing since :2005

Answered : 1528 Questions

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Have Asthma, Taking Tilade And Symbicort, Convulsions, Ear Problems, Tonsillitis, Sinus Infections, Headache. Do I Have A Genetic Disorder?

Hello ,
Thanks for posting your query.
I understand your concern and appreciate your efforts as a vigilant and health conscious individual .
Though a comment on diagnosis of such a condition requires thorough clinical evaluation of the patient ,one can say that underlying immune mediated disorder could be a possible reason for your problems.
Primary immunodeficiency diseases occur in persons born with an immune system that is either absent or hampered in its ability to function. While not contagious, these diseases are caused by hereditary or genetic defects and can affect anyone, regardless of age or sex. There are more than 150 primary immunodeficiency diseases – some are relatively common, others are quite rare.
And while the diseases may differ, they all share one common feature: Because one of the most important functions of the normal immune system is to protect us against infection, patients with primary immunodeficiency diseases commonly have an increased susceptibility to infection.
The infections may be in the skin, the sinuses, the throat, the ears, the lungs, the brain or spinal cord, or in the urinary or intestinal tracts, and the increased vulnerability to infection may include repeated infections, infections that won’t clear up or unusually severe infections. People with primary immunodeficiency diseases live their entire lives more susceptible to infections–enduring recurrent health problems and often developing serious and debilitating illnesses. Fortunately, with proper medical care, many patients live full and independent lives.
So considering your history it's advisable you consult a genetist or a specialist in immunology to study your case and order appropriate investigations which include blood investigations , biopsy etc to confirm a diagnosis and rule out a systemic or immune mediated illness .
Hope this information is helpful to you.
Wishing you good health.
Regards