Monday, May 12, 2014

One family, more than 30 diagnoses

After searching for a photo to use for Wednesday Warmer for 2 hours, I decided I can't do it. And on Friday I wasn't home really, so unable to do the Family Friday. So I decided from now on, those two will be on an ad-hoc basis. Sorry for any inconvenience. Once life settles down again, I'll reconsider.

So, on to Medical Monday.

I was an extremely healthy child. My mom was quite the opposite of a hypocondriac. She actively stayed as far away as she could from doctors, and even refused to acknowledge what specialists told her. Especially about her kids. Even when I severely burned my hand, she never took me to the dr. Only the nurse. When the teachers told my mom that her one child needed intervention, she brushed them off, and never took it any futher. She didn't want labels and diagnoses. That's how I grew up, so that's how I were myself.

Until I had Boeboe. Until I were faced with the mortality of my daughter. Then, it all changed. I lost my innocence, and realised that this tiny helpless human being depends on me, and me alone, to keep her alive. I realised that if I do not take her sleep apnoa seriously, she could loose her life. The responsibility weighed heavily, and I learned that it wasn't all about me. I couldn't go through life like my mom, with closed eyes, pushing my head in the sand like an ostrich and hoping things will magically improve. I had to make it happen. I had to fight for what my child needed. There were some years, from when she was 2 until she was 5, when I did try to go back to how I were, to go back to the non-paranoid mom, head in the sand. But it all blew up in my face the moment I took her (on the advice of the peadiatrician), to the bio-kineticist, and for the first time in years, a specialist gave one look at my daughter and shook her head, with a worried frown between her brows. At that moment, I felt a chill going down my spine. From that moment on, I started fighting again for my daughter. Now it's 5 years down the line, and I'm still doing that.

So, here's a history for those that asked/were curious, of all (or at least those I can think of for now, I might edit this in the future!) our family's diagnoses throughout the years. I've accepted that for some reason, we don't have it easy. I hope people would now rather ask me directly about anything, than speculating if it could be possible for one family to have so many diagnoses throughout the past 25 years.
  • When I was 16, I fainted and my dad took me to the dr, who diagnosed me with low blood pressure and whacked hormones.
  • When I was 17, a homeopath said I most likely have Gilbert's Disease. It was confirmed by quite a number of doctors throughout the following 20 years. It's of no concern really. It's a liver disease, my liver does not create enough of the enzyme to break down billirubine. It's not life-threatening at all, and rarely cause me any symptoms.
  • When I was 19, I was diagnosed with IBS, because I couldn't take the pain any longer and went to see a gastroenterologist (surprisingly, my mom took me - I guess even she couldn't face seeing me in pain any longer). I suffered with it since age 13.
  • When I was 25, I went to the gynaecologist for my first ever proper checkup after my marriage, thinking it would be a quick, normal yearly checkup. I walked out of there in tears - learning that I most likely had a condition called endometriosis that may cause infertility. It was confirmed a few days later via laparoscopy.
  • A few months later, another gynaecologist diagnosed me during a sonar to check for pregnancy, with adenomyosis. Another diagnosis I didn't look for, didn't care to know about and hasn't researched or done anything about.
  • At age 31, after being ill with throat infections for years, the GP referred me to the specialist physician, who diagnosed me with orthostatic hypotension and referred me to another GE for futher tests, including a gastroscopy, colonoscopy and swallow study. The IBS was confirmed, and they also found out that I had a non-working stomach valve, causing severe GERD. This diagnosis I welcomed. Because for the first time ever, someone could tell me why I was always nauseous and woke up with a sore throat and hoarse voice every morning. The medication for this has given me alot of quality of life back. Since then, I've only rarely been ill.
  • The swallow study determined that I only had 20% swallowing function. I don't know if this is because of damage from the reflux over the years, or if I was born with 80% lost. This diagnosis just confirmed something I've lived with, and that caused quite interesting symptoms. Like the fact that I have a real problem swallowing down pills, and even food. But this is a discussion for another time.
  • At around age 36 I went for my normal yearly (or closer to 2-yearly!) visit to the optometrist to get my prescription for my contact lenses (I've been wearing glasses since I was 13, and contacts since I was 21 - I'm short sighted.). She told me that there's something wrong with the pressure in my eyes and she wanted me to go to an opthalmologist. I wasn't really worried, so was completely caught by surprised when he diagnosed me with glaucoma. Early stages fortunately. I go for regular checkups on this, but again, it's not a diagnosis I looked for, wanted or care much about. I haven't googled it, I have no idea what the prognosis are. I'm just happy that I can see for now, and that hopefully the opthalmologist will treat me when it's necessary, to stop me from going blind.
  • Around age 37, the neurologist diagnosed me with tension headaches, as well as nerve damage from my 2nd pregnancy. I have no feeling (numbness) in my lower stomach, hips, bum and thighs. It doesn't bother me much, of course, it's just a very interesting feeling. Boeboe lied from my one hip to my other (transversed) most of the pregnancy, and probably compressed nerves on both side which never healed again.
  • At age 39 I couldn't take the worsening dizzyness (started around age 12) any longer, and my GP sent me for a 24hr holter EKG after I went to him for the 4th time in about a year, and he exhausted all other tests he could think of. It showed my heart had some electrical problems, which causes it to skip a few beats (or rather, beat out of rythm), and which makes it race numerous times throughout the day for no reason (beating around 140 bpm). I'm on medication for this now. So this diagnosis is one that I chased and wanted for years and years. Since I fainted the first time (out of hundreds of times). Life would've been much easier if I could have gotten this diagnosis at age 16, and not 39.
I don't know if all of this is normal, or not. Sometimes, I hear about other people going through so many things, then I believe it's normal - everyone gets a few diagnoses throughout their lifetimes. Why would I be any different? Then, other times I talk to people, and they are absolutely healthy and fine and has no problems, and it makes me realise that maybe it isn't as normal as I thought. And I'm pretty sure I have a number of issues that hasn't been given a label yet. The gynae for example told me I most likely has a blood clotting disorder, but I threw the blood testing paper in the bin. I wasn't and didn't want another diagnosis at that time. It was stupid, I know. But at that stage I really had enough. It was about 8 years ago. I'm also pretty sure that I have a host of psychiatric things going on, and will discuss those in another Medical Monday post. I need time to resolve some of it first.

So the kids.

When Mr N was born, he turned very yellow. By 2 or 3 months of age, they determined it was because he inherited our Gilbert's Disease.
Age 1, and again age 4, Mr N was diagnosed with speech delays, articulation problems and sensory problems in and around his mouth.
When he was 4, he had a gastroscopy and PH study, and was diagnosed with the exact same problem with his stomach valve as I have, and thus GERD was diagnosed. He never outgrew this.
When he was 4, and again age 10, he was diagnosed as having huge problems with his vestibular system.
When he was 5, he had a visible seizure and got diagnosed with Juvenile Myoclonic Epilepsy by the pediatric neurologist.
When he was age 10, the neurologist diagnosed him with having migraines.
When he was 13, he fainted in school and got diagnosed with vasovageal syncope.

When Boeboe was born, she had the exact same problem with being yellow for months. Again, she too was diagnosed with Gilbert's Disease.
Age 6 weeks, she was diagnosed with constipation. Thereafter, had this and the diagnosis of impaction numerous times.
And, like her brother, she was diagnosed at age 18 months with GERD. She never outgrew this, and had an exceptionally bad case of it.
Age 3, she was diagnosed with eczema and allergies/sensitivities.
When she was 5, the bio-kineticist diagnosed low muscle tone, especially in the upper body, as well as a too high foot arch.
Also when she was 5, the orthopediac surgeon diagnosed her with in-toeing, loose hipsocket and leg lenth discrepancy.
Age 6, she was diagnosed with neurogenic bladder by the urologist, after a urodynamic study.
Age 6 she was diagnosed by the neuro-surgeon with drop foot.
Age 7, she was diagnosed by the neuro-surgeon with occult tethered cord.
Age 7, she was diagnosed as having moderate speech delays and problems (some physical, like tongue placement and low muscle tone), as well as reading delays.
Age 10 she was diagnosed as having a 3-4 year delay in emotional maturity.
Age 10 she was diagnosed with General Anxiety Disorder.
Age 10 she was diagnosed with Bi-polar with Psychosis.
Age 10 she was diagnosed with Separation Anxiety.

Again, Monkeyman had the same issue with being yellow for months and months. Four, to be exact, in his case. Again, a diagnosis of Gilbert's Disease followed.
Age 6 weeks, Monkeyman was diagnosed with GERD.
Age 6 weeks, he was diagnosed with eczema.
Age 1 year, he was diagnosed with lactose sensitivity/intollerance.
Age 5 years, Monkeyman was diagnosed with Pulmonary Hypertension due to enlarged adenoids.
Age 5 years, Monkeyman was diagnosed as having a thinned left heart wall.
Age 5 years, Monkeyman was diagnosed with an underbite (lower jaw protruding).
Age 5 years, Monkeyman was diagnosed with low lymphocytes.
Age 6 years, Monkeyman was diagnosed as never developing anti-bodies to his baby vaccines.

Age 3 weeks, Peanut was diagnosed as having GERD. She did NOT have the Gilbert's Disease diagnosis, since she wasn't yellow for more than a couple of days/weeks after birth!

I was actively looking for the children's GERD diagnoses, when I got my own and it made me realise they all had symptoms.
I also actively looked for Boeboe's occult tethered cord, and all the other diagnoses that went with that (bladder, feet, etc.).
I was actively looking for a reason why Mr N didn't babble as a baby and wasn't saying words at age 14 months, and urged by his teacher to take him back to the speech pathologist age 4.
I was actively looking for a reason why Mr N had a weird episode (which turned out to be a seizure). I didn't even recognised it as such, but thought he had low blood sugar or low blood pressure.
I was actively looking for a reason why Boeboe and Monkeyman was yellow. With Mr N, I wasn't, the clinic nurse was worried and did numerous blood tests.
I was actively looking for a reason why Mr N fainted at school, and given the vasovageal syncopy diagnosis by our GP.
I was actively looking for why my 6-week old exclusively breastfed baby had a very hard, extended stomach, and told it was from constipation.
I was actively looking (and still is) for a reason why Monkeyman is abnormally tired (compared to other children his age). This lead to the thinned heart wall diagnosis.
I was also looking for a reason why he got heart palpitations, and the GP referred us which lead to the pulmonary hypertension and enlarged adenoids diagnosis, as well as the jaw problems.

I was NOT looking for the diagnoses with Boeboe's speech. I was asked by her psychologist to take her to a speech and occupational pathologist. We went to the psychologist because her self-confidence took a big knock with the bladder accidents.
I was NOT looking for any of the psychiatric disorders. Again, I was asked by the psychologist to take her to a psychiatrist.
I was NOT looking for the delay in emotional maturity, it happened when I was referred by the school to revisit the psychologist.
I was NOT looking for Boeboe's low muscle tone diagnoses, I was looking for a reason for her toe-in when the pediatrician referred us.
I was NOT looking for Monkeyman's low lymphocytes, it was revealed by numerous blood tests done by a specialist for other reasons.
I was NOT looking for the vestibular system problems, it came about when we had a normal developmental assessment.
I was NOT looking for the migraine diagnosis, we had a normal checkup with the specialist for the epilepsy.

So, as you can see I did go out of my way to get the children diagnosed with about half of the things, usually because something happened (like Mr N's seizure). But the other half just occured because I took the child for a normal check-up, a follow-up or because one specialist noticed something and referred us to another specialist. Some of the diagnoses I was happy to recieve, because it provided me with answers and a way to help them, like Boeboe's tethered cord. Some, I was really down in the dumps with for a very, very long time after recieving it, like Mr N's epilepsy. It really threw us for a loop at that time. Some totally shocked me, as it came out of the blue when I was under the impression that things were going well, like Boeboe's psychiatric disorders and Monkeyman's heart problems. Some didn't bother me much in the grand scheme of things, like their Gilbert Disease diagnoses. I'm pretty sure that if I was even MORE proactive, especially early on with Boeboe, we would've had even more diagnoses. Like global developmental delay. But I never took it seriously when she didn't achieve her milestones when she should've. I just waited for it to happen, and once or twice took her to a therapyst to work with her and ask for excersizes I could do at home with her. I refused to believe there's more wrong with her than "just" her difficult pregnancy and birth. I was adamant that she just needed time. I did not want her to be classified with a host of things, like she is now. :-(

I'm not going to go into as much detail with my husband, as it is his issues. Just to quickly list it.
  • Sleep apnoa. He sleeps with a CPAP machine for this.
  • Micrognathia (the cause of his sleep apnoa)
  • Migraines
  • Severe alcohol allergy (yes, we don't drink. Ever.)
  • Leaky heartvalve
  • Gilbert's Disease (what's the chance that someone with this, marries another with this!! Haha. I was diagnosed before we got married, he only after, by chance via a blood test for something else.)
Me:
  • Low blood pressure
  • IBS
  • Endometriosis
  • Adenomyosis
  • GERD
  • Gilbert's Disease
  • Dysphagia
  • Glaucoma
  • Parestesia
  • PVC's
  • SVT's
The children:
  • GERD
  • Gilbert's Disease
  • Epilepsy
  • Occult tethered cord
  • Neurogenic bladder
  • Toe-in
  • Dropfoot
  • Speech delays
  • Prognathism
  • Thinned heart wall
  • Low lymphocytes and other immunity issues
  • Psychiatric disorders
  • Immaturity
  • Hypotonia
  • Sensory integration disfunction
  • Eczema
  • Enlarged adenoids
  • Pulmonary Hypertension
  • Neurogenic bladder
  • Constipation
  • Migraines
  • Vasovageal syncope
  • Vestibular problems
I'm pretty sure I'm forgetting a whole list of things, but will just edit this post in the future as I remember things.

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