Rare Disease Day February 28th 2017

/ 3sistersabroad

This post is not about our travels, it’s about Rare Disease Day.  Every where world-wide February 28th is for bringing recognition to Rare Diseases.  I know I am early with this post but I thought I would get this out there now.

I am the baby of the family the 4th child.  So as the gene malformation was with me my sisters and brother will not have this disease.

I have 2 rare disease and will give you a bit of an insight into these two.  The first is Tuberous Sclerosis. I had no idea I had this disease until the birth of my second child.  She was diagnosed first when she was about 9-12 months old.  When I went back to my Kidney specialist when she was 1 and I told him about her diagnosis he advised me that’s what I had also.  When I was pregnant with her, they discovered I had very large kidneys and I had a biopsy at 3 months to rule out cancer.  Lucky for me it wasn’t cancer so I didn’t have to think about what I would have to do with my unborn child. No idea why they didn’t discover the large kidneys when i was pregnant with my first child.  The reason they are large as they are riddled with Angiomyolipomas – AML’s.  Bit like those sponges with the holes.  All those holes are my aml’s.  A lot of people have them removed, however as I have lots they are unable to do this.

I have yearly blood tests and scans to ensure my kidneys are functioning at the right levels.

So hopefully by now you are asking so what is this disease called Tuberous Sclerosis.  It affects everyone so differently.  I have Angiomyolipomas (AMLs) on my kidneys and liver. I have a heart murmur. Although not every doctor has been able to “hear” it.  I have all the skin signs and symptoms.

Hypomelanotic macules (White spots) – These are more obvious when I tan.  I have one “white leg” and one brown leg.

Facial Angiofibromas – When i was 6 I had several removed from my face.  If you look very closely you can still the scars.  They thought back then it was cancer.  I have no recollection  of the actual operation but do remember showing off my scars as a child. I also have them on my nose and chin.  However, there is a new cream that is working wonders with the red raised bumps.

Shagreen Patch – I always told others that this was my birth mark!

Nail Lesions – my fingers and toes are riddled with these.

I have a few lesions on the back of my eyes.  They don’t seem to have any affect on my eyesight.  I do wear glasses, however I think that might be an age thing. my youngest has been affected more than me.  She is intellectually disabled, has seizures , has autism, and now lives in a wonderful group home.

Here is a link to find out more about Tuberous Sclerosis.

https://tsa.org.au/information/

4 years ago a friend who was trying to find out what was going on with her lungs, suggested I should have a high frequency ct scan.  One of the conditions that she found was linked with Tuberous Sclerosis.  I went to my doctor and asked for this scan, thinking the whole time I don’t have this disease and wouldn’t someone have checked me anyway.  Seeing I have TS!   Went into my drs office and was shocked to hear him say you have Lymphangioleiomyomatosis or Lam for short.

What is Lam you ask?  Here is the link to the Australian Lam organisation.

http://lamaustralia.org.au/what-is-lam/

 

I started getting “asthma” when my girls were little.  Initially diagnosed with bronchitis, and was given a”puffer” when it was bad.  I would have a year where I would be really sick with chest infections and that would then go into pneumonia. Then I would have a few years where I would be ok.  Finally a few years ago a doctor advised that I indeed had asthma and would have to ensure I took a preventative every morning, and have on hand my puffers for when it got bad.  I will be honest I was a bit slack in all of this.

Since my diagnoses I take my preventative every morning.  2 years ago I was so sick with chest infections and again it developed into pneumonia my dr was going to admit me into hospital for IV treatment with antibiotics.  I see a Lam lung clinic at our Alfred Hospital twice a year and I had an appointment while I was taking the antiobiotics.  She was wonderful and put me on steroids and stronger antibiotics.  This helped kick it out of my system.  The specialist also emailed my dr to advise that if I ever have a chest infection again that I have to be treated as if I have pneumonia straight away.  I have antibiotics and steroids on hand just in case.  Two weeks ago, probably a weather induced asthma, I was pretty bad so I went onto the steriods to help with my breathing.

At the Lam clinic, I have my lungs tested, usually a blood test to see how much oxygen  is pulsating through my blood.

When I travel, I always ensure I have steroids and antibiotics with me.  Plus several puffers, better to be safe than sorry.

 

I am very lucky with both my rare diseases, that both are mild.  Some ladies that have Lam have to have a transplant and some don’t even get that chance.  It affects women in their child-bearing years, yet its often not diagnosed until we are in our 40’s and 50’s.  I have the  TS/Lam and there is also Sporadic Lam.  Mine is heredity so I am getting my daughter with TS checked for Lam.  Sporadic Lam is not inherited and often progresses rapidly to the point of either death or a transplant.

Thanks for reading this post today.  I hope you have learnt just a little bit about these 2 rare diseases.

 

 

 

 

 

23 thoughts on “Rare Disease Day February 28th 2017”

    • I honestly love your blog! It’s great that you are able to travel with your sisters! I have traveled with my sister before, but I would love to travel with both of them. I am currently studying abroad in Sweden and recently visited Paris! It was a beautiful city! Do you think it’s easier or harder to travel with siblings if you know what I mean! haha 😀

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      • For us it was amazing traveling with sisters. We really bonded. As I live so far away, the other side of the country I do not see them that much. A lunch or dinner when i visit and thats it. Or the two times they came over to the east coast. Oh I am so envious of you …Yes Paris is beautiful its quirky. Wow Sweden. another place on my list to visit. Must buy a lottery ticket so i can do more 🙂

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  2. Wow you have had to go through so much!

    I also have an AML which was discovered last year. It’s only small so due my next 6 month scan later next month. I have it without TS but when I was doing all my reading about there I saw they are common with TS.

    It’s great to see a post sharing information about rare diseases as you never hear about them usually!

    Top post!

    X

    Keep being positive

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  3. I have never heard of either of these conditions. Thankk you – it was an interesting read. You have a very positive attitude towards it and that would make a huge difference on how your body deals with it. I wish you every blessing !

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  4. It’s strange the things they miss in some pregnancies. They ran a billion and a half blood tests on me with my first (or so it felt), then with my second not as many, for whatever reason. Then after I had my second I was afraid of a blood clot symptom and went straight to an internist who did not find a blood clot but instead said my Cholesterol was so high I might was a well be a 60 year old, never exercising, hamburglaring, smoker. They were urgent in their movements after that, putting me on statin and through other various tests ofcourse, and I wondered how did no one see that when I was pregnant…in all those tests, you’d think cholesterol would be something obvious they were tracking…;)

    Very informative post! The fact that you can see the blessing in it is so inspiring! Bravo!

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  8. Very insightful, especially as I knew very little (almost nothing, in fact). It’s strange sometimes how something seemingly more obvious to pick up as a sign (ie. large kidneys) gets missed, as it did in your case until the birth of your second child. A wonder if I might be able to share this post soon when I’m out of hospital if you would be ok with me posting a link to it? And I hope the weather improves soon as I’m sure the cold doesn’t help with asthma or how you feel in general. Thank you for sharing 🙂

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