Re: I thought you all might appreciate this

[Guest guest]

,

A hundred questions, but first.....Wow, cold chills, tears...these young women are phenomenal! I will go to thier website. I want to hear some of thier gospel songs,etc. To think that they can do this with diminished lung capacity is awesome.

Questions: I assume that they, too have HPS. If so, why do they not have the Albino coloring? I know that you have told us, but my mind comes and goes....Do the eyes always get involved and is it at different levels for different people? Same question for the lung involvement.

One more....are you the blonde in the video. She looks like your pictures, but I want to know for sure. I have an inquiring mind, can you tell?

Thanks again, for making my day!

Hugs, Joyce D.Pulmonary Fibrosis 1997 Bronchiectasis 2004 Pulmonary Hypertension 2008 Mixed Connective Tissue Disease (Lupus, RA, Sjogren's, etc) Rejected for Transplant 2006 .....I will not forget you. Behold, I have engraved you on the palm of my hands. Isaiah 49: 15-16 >> > I'm one of the lurkers on the list - but I thought you all might get> warm fuzzies from this. We just had our annual Hermansky-Pudlak Syndrome> Network conference. We have a set of twins that are 27 years old and> have PF. But they are the most incredible singers. Their lung function> hovers betwen 60 and 70 and sometimes they require oxygen in between> sets at their concerts. They are gospel singers. I'm a huge fan. In this> clip, however, they are singing the song they sung for the NIH during> grand rounds when the NIH opened research into HPS.> >

<

> > > > > > Hermansky-Pudlak Syndrome albinisn/PF 06>

[Guest guest]

,

That was awesome, thank you so much for sharing this. It's amazing to me, given a limited lung capacity that they can sound like that. Absolultely inspirational!

Beth

Age 48 Fibrotic NSIP 06/06

Change everything. Love and Forgive

I thought you all might appreciate this

I'm one of the lurkers on the list - but I thought you all might get warm fuzzies from this. We just had our annual Hermansky-Pudlak Syndrome Network conference. We have a set of twins that are 27 years old and have PF. But they are the most incredible singers. Their lung function hovers betwen 60 and 70 and sometimes they require oxygen in between sets at their concerts. They are gospel singers. I'm a huge fan. In this clip, however, they are singing the song they sung for the NIH during grand rounds when the NIH opened research into HPS.

http://www.youtube. com/watch? v=diruVJ8TtjQ

Hermansky-Pudlak Syndrome albinisn/PF 06

[Guest guest]

It amazes all of us too

>

> ,

> That was awesome, thank you so much for sharing this. It's amazing

to me, given a limited lung capacity that they can sound like that.

Absolultely inspirational!

>

>

> Beth

> Age 48 Fibrotic NSIP 06/06

>

> Change everything. Love and Forgive

>

>

>

>

>

> I thought you all might appreciate this

>

> I'm one of the lurkers on the list - but I thought you all might

get warm fuzzies from this. We just had our annual Hermansky-Pudlak

Syndrome Network conference. We have a set of twins that are 27 years

old and have PF. But they are the most incredible singers. Their lung

function hovers betwen 60 and 70 and sometimes they require oxygen in

between sets at their concerts. They are gospel singers. I'm a huge

fan. In this clip, however, they are singing the song they sung for

the NIH during grand rounds when the NIH opened research into HPS.

> http://www.youtube. com/watch? v=diruVJ8TtjQ

>

>

> Hermansky-Pudlak Syndrome albinisn/PF 06

>

[Guest guest]

Those are great questions because it's part of the misconception out there about HPS, and thus often the lung docs miss it and tell someone they have IPF instead.

People with the HPS type of albinism always have some sort of eye involvement, but it can vary a lot. Some see 20/40 even, while others like me see 20/400. There is almost always some nystagmus, or a quick moving back and forth of the eyes.

The coloring for people with HPS varies widely. Some are very blonde and have very light skin like my brother and I, and some have olive complexions and black hair. The girls were adopted from India, so you sort of have to compare how dark their parents might have looked. They also dye their hair too. There's a slide presentation on my blog on the right side. Everyone in that slide presentation has HPS, so you can see the variety.

The lung disease doesn't happen to everyone with HPS. It happens in types 1 and 4, however type 1 is by far the most common type. There seems to be no relationship between how much pigment someone has in the skin or hair, and the degree of severity of their disease. Everyone with these gene types gets PF, but the age of onset varies a lot. It typically starts in the 30s to 40s. But, we've got a 20-year-old right now with PF, and we recently lost an HPS'er who was 28. We don't know why it varies so much.

I'm not in the video, but there were two other ladies at conference that looked like my twins - everyone kept mixing us up! You can see on the front row briefly though in the striped shirt.

blog: www.heatherkirkwood.blogspot.com

Hermansky-Pudlak Syndrome albinism/PF 06

> >> >> > I'm one of the lurkers on the list - but I thought you all might get> > warm fuzzies from this. We just had our annual Hermansky-Pudlak> Syndrome> > Network conference. We have a set of twins that are 27 years old and> > have PF. But they are the most incredible singers. Their lung function> > hovers betwen 60 and 70 and sometimes they require oxygen in between> > sets at their concerts. They are gospel singers. I'm a huge fan. In> this> > clip, however, they are singing the song they sung for the NIH during> > grand rounds when the NIH opened research into HPS.> >> >

> <

> >> >> >> > > >> > Hermansky-Pudlak Syndrome albinisn/PF 06> >>

[Guest guest]

Thanks, for answering my questions. You all really work hard at awareness, yet most have never heard of this syndrome. I hate it that so many pulmonologists will tell patients that they have IPF and that there is no treatment or cure.....and never even research or look for things like HPS.

I am a simple thinker. I just think that if there is an effect, there is a cause. It just takes a little work for docs to try and find out what that cause might be. Most are too lazy or too greedy (time is money) to do that. Sorry, if I sound bitter, but I have been a patient for a long, long time. I have walked the walk, so I know wherof I speak!

I have also encountered physicians who have spent countless hours trying to help me survive a little longer. I have physicians right now that are doing that very thing. My current pulmonologist took my file home and studied it on the weekend. That compared to a doctor who doesn't even respond to calls and refuses to see me when I was so ill that I ended up in the hospital for a week with pneumonia which caused a lot of new scarring. (not recent)

Didn't mean to go to preaching. Just happens from time to time.

Thanks again,

Hugs, Joyce D.Pulmonary Fibrosis 1997 Bronchiectasis 2004 Pulmonary Hypertension 2008 Mixed Connective Tissue Disease (Lupus, RA, Sjogren's, etc) Rejected for Transplant 2006 .....I will not forget you. Behold, I have engraved you on the palm of my hands. Isaiah 49: 15-16

> > >> > >> > > I'm one of the lurkers on the list - but I thought you all might get> > > warm fuzzies from this. We just had our annual Hermansky-Pudlak> > Syndrome> > > Network conference. We have a set of twins that are 27 years old and> > > have PF. But they are the most incredible singers. Their lung> function> > > hovers betwen 60 and 70 and sometimes they require oxygen in between> > > sets at their concerts. They are gospel singers. I'm a huge fan. In> > this> > > clip, however, they are singing the song they sung for the NIH> during> > > grand rounds when the NIH opened research into HPS.> > >> > >

> > <

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