Tre år etter diagnosen alfa-1 antitrypsinmangel – Three years after the diagnose

IMG_1993(English text further down)

Min kjære Alfaener er fortsatt solid oppegående – han er i full jobb, spiser sin næringsrike mat og sine vitaminpiller, og har færre sykedager enn sine «friske» kolleger.

Vi har deltatt på den internasjonale konferansen i Barcelona i april, og møtt gamle og nye kjente som er berørt av Alfa-1 antitrypsinmangel. Her fikk jeg anledning til å presentere kostholdsopplegget vi har benyttet for å styrke den friske delen av kroppen – det vil si alt som er utenfor lungene.

Dr. Fedon Lindberg sto for hovedinnlegget i denne bolken – dessverre ble det dette aldri lagt ut på vimeo så vidt jeg har klart å bringe på det rene. Han påviste inflammasjonens rolle i forhold til alfa-1 antitrypsinmangel, og hvorfor det var så viktig å gjøre det man kunne for å hindre selvpåførte inflammasjoner i form av for mye karbohydrater og feil fett.

For meg er det viktigste ved dette at man faktisk KAN gjøre noe selv for å bremse sykdomsutviklingen. Det gir en god mestringsfølelse å ha lavest mulig crp i perioder hvor kroppen ikke har akutte infeksjoner.

Etter konferansen ble det gode dager i Barcelona med gode venner fra USA, Mary og Todd Pierce og Ken Benson. Sightseeing, god mat og god prat ga gode minner å ta med hjem!

IMG_1456Hjem til Norge hadde jeg fått med meg den medisinske begrunnelsen for hvorfor alt vi hadde gjort med kostholdet har gitt opptur og stabilitet.

Jeg kjente at nå kunne jeg endelig konsentrere meg om jobben igjen og ta «ferie» fra hele alfa-1 syndromet. Dette hadde tatt store deler av min våkne ledige tid gjennom tre år og det var godt å ta pause fra nettsøk og medisinske sider, grupper med atter nye lenker å sjekke – kort sagt: FERIEMODUS!

Godt hjulpet av at Geir fikk en ny medisin, Inuxair, som fungerte veldig bra for ham og gjorde hverdagen så utrolig mye lettere.

Og da sommeren kom dro vi til vår lille by i Italia, og kunne omsider la skrekken fra forrige gang slippe taket! IMG_1833Vi dro til sjøen, og vi koste oss med god mat og drikke med våre venner og vår fantastiske kokk Raymondo og hans kone Brigida.

Feriemodusen slapp ikke taket da jeg kom hjem, og fortsatt har jeg valgt å ha ferie fra hele alfa-1-syndromet.

Nå overlater jeg til alfaeneren min som har iført seg ledertrøya i den norske foreningen å jobbe videre med alfa-1 antitrypsinmangel ad organisatorisk og politisk vei.

Jeg har fått et nytt barnebarn i Bergen, og nå skal vi dit i helgen og studere det lille mirakelet som har fått navnet Julie!

Julie offisielt bildeSå til dere som har fulgt bloggen  – jeg håper dere gløtter innom av og til selv om det nok ikke blir så mange oppdatereringer framover – men den dagen jeg får ånden over meg skal sidene om kosthold utvides. Inntil da anefaler jeg bøkene til Fedon Lindberg som er oversatt til mange språk.

Og inntil vi får prolastin tilgjengelig i Norge er det ikke stort annet å gjøre enn å ta best mulig vare på det friske og konsentrere seg om det som er mulig og positivt i livet. Det finnes uansett ingen garantier for morgendagen – så å være i her og nå og gjøre det som er mulig ut fra det gjelder nok både pasienter og pårørende.

English:

My dear Alpha One is still up and going – he is working full time , eating his nutritious foods and his vitamin pills, and have fewer sick days than his » healthy » collegues.
We have participated in the international conference on Alpha1-antitrypsin deficiency  in Barcelona in April and met old and new friends who are affected by Alpha – 1 antitrypsin deficiency. Here I had the opportunity to present the diet approach we have used to strengthen the healthy part of the body – meaning all that is outside the lungs.

Dr. Fedon Lindberg was responsible for the main part of this lecture – unfortunately his presentation was never posted on vimeo so far as I have been able to ascertain. He talked about the inflammatory role in alpha – 1 antitrypsin deficiency , and why it was so important to do what you could to prevent self-inflicted inflammations in the form of too much carbohydrate and  wrong fats .
For me the most important lesson in this area is that you can actually do something yourself to slow disease progression. It gives a great sense of achievement to have the lowest possible CRP during periods when the body does not have acute infections. Becuse then you need less alpha-1 antitrypsin.

IMG_1532After the conference came some good days in Barcelona with good friends from USA, Mary and Todd Pierce and Ken Benson. Sightseeing, good food and chat provided great memories to bring home!

IMG_1624And also I could take home the knowledge that there were medical rationale for why everything we had done our diet has given better general health and stability

.I knew that now I could finally concentrate on my new job and take » vacation » from the alpha – 1 syndrome. This had taken much of my waking time for three years and it was good to take a break from searching the world wide web and its numerous medical pages , groups on Facebook with countless  new links to check – in short : HOLIDAY MODE!

Aided by the fact that Geir in May got a new medicine, Inuxair , which worked very well for him and made life so much easier, we could both enjoy life this summer and fall.
And when summer came, we went to our little town in Italy, and could eventually let go of the terror from the last time! We went to the sea for a few days, and we enjoyed the good food and drinks with our friends and our wonderful chef Raymondo and his wife Brigida.

Vacation mode did not let go when I came home, and I have chosen to continue my “vacation” from the alpha – 1 syndrome.
Now, I leave it to my alpha one as the leader of the Norwegian Alpha-1 Association to work with alpha – 1 antitrypsin deficiency in an organizational and political way. There is a lot to do to increase the awareness of Alpha1-antitrypsin deficiency!

I have just gotten a new granddaughter in Bergen, and we will go there tonight to spend the weekend with the little miracle named Julie !

So to those of you who have followed the blog – I hope you peep back occasionally even though there probably will not be as many updates ahead – but the day I get the spirit of me to pages about diet expands. Until then I recommend books by Fedon Lindberg, translated into many languages.
And until we get PROLASTIN available in Norway there is not much else to do but to take best care of what is healthy and concentrate on what is possible and positive in life. There is no guarantee for tomorrow  for anyone – so being in the “here and now” and do what is possible. This goes for patients and their families, friends and collegues.

 

 

Meet Julie Knutson – alpha-1 sister and activist from Minnesota – Møt Julie Knutson, alfa-1-søster og aktivist fra Minnesota

Julie Knutsonweb  Seattle 2012

The national alpha-1 conference in Seattle in June 2012 gave me the opportunity to meet in person Julie, who I had had as Facebookfriend for about a year. Outgoing, positive and energetic – just as I had imagined. It was a pleasure to meet her! Bildet ble tatt under denne konferansen.

On April 3, 2013 I find her story in Lifescript, healthy living for women. I want to present her story to Scandinavians who is not too happy with English, and sends Julie a message on Facebook asking for permission to use her picture and to tell her story in my words in my blog. She gives me her permission – and the rest of this blogpost will be in Norwegian. Why share this story? Because it is personal and tells the story from real life and not just the statistics and impersonalities from a study or a research program. Alpha-1 hits PEOPLE, like you and me and our family and friends!

En amerikansk alfa-ener med guts og et hjerte av gull

På den nasjonale Alpha-1 konferansen i Seattle i 2012 hadde jeg gleden av å endelig møte min Facebook-venninne Julie i virkelighetens verden. Vi hadde utvekslet utallige meldinger det siste året, og hun hadde gode kunnskaper om alf som angikk alfa-1 antitrypsinmangel.

3. april i år la en annen Facebookvenn ut en lenke til en artikkel. Jeg fulgte denne lenken, og der var hun igjen,  Julie Knutson, min alfa-venn! Her fikk jeg lese hennes historie i sammenheng, og denne historien ønsket jeg å dele med mine skandinaviske venner. En personlig melding på Facebook var alt som skulle til for å få lov å omskrive hennes historie med mine ord. Takk til Julie!

Hvorfor dele?

I Norge, og sikkert i resten av Skandinavia skrives det lite om alfa-1 antitrypsinmangel i det hele tatt, og jeg har med ett unntak ikke lest en eneste personlig historie om hvordan det er å ha utviklet sykdommen, måtte ta imot diagnosen og deretter leve med den. Jeg tror det kan være på tide å bringe de levende menneskene fram i lyset for å gi denne genetiske KOLS-varianten et menneskelig ansikt i stedet for at den bare blir liggende der som deler av en statistikk og noen siders forkningsresultater. Lett å glemme da at det handler om levende mennesker som har et liv med familie og venner…

Julies åtte legebesøk

Psykoterapeuten Julie merket at noe var galt for 12 år siden. Som den ivrige jeger hun var, merket hun på en jakttur i Minnesotas skoger at pusten gikk tyngre enn vanlig. Først trodde hun det var allergi, for det virket som om noe var galt. Et besøk hos en allergilege så ut til å bekrefte dette, og Julie begynte med innhalator og medisin som reduserer inflammasjon i lungene. Likevel hjalp det ikke stort. Hun var fortsatt kortpustet, og selv ved oppfølgingsbesøket to år senere ble det ikke tatt ytterligere tester.

Et besøk hos indremedisiner bekreftet tilsynelatende allergidiagnosen, og en ny innhalatormedisin ble lagt til, uten at dette endte opp i riktig diagnose.

Tilfeldighet

Fire år senere var det tilfeldigheter som førte til at det endelig ble stilt korrekt diagnose. På dette tidspunktet fikk Julies far diganose skrumplever, så alvorlig at Julie meldte seg som frivillig med tanke på å donere en del av leveren. Og alt så i første omgang svært lovende ut. Perfekt match med tanke på donor.

Et slag i ansiktet

En av blodprøvene viste en «feil» – og videre testing viste at det var alfa-1 antitrypsinmangel som var problemet – den samme genfeilen som faren hadde. Alfa-1 antitrypsinet er et «snilt» enzym som produseres t i leveren, for så å sendes ut i blodstrømmen for blant annet å beskytte lungene mot et  enzym som kalles nøytrofil elastase. Les mer om dette på blogsiden om alfa-1 mangel.

Arvelighet

Alfa-1-genet er recessivt og må  arves Julies far var en bærer MED symptomer, mens Julies mor var en bærer av genet som ikke hadde symptomer. Julie hadde trukket loddet med et defekt gen fra begge, mens broren hennes viste seg å være den heldige vinner av to friske gen. Han kan dermed heller ikke bringe sykdommen videre.

Julie og hennes sykdom

Nye undersøkelser viste at Julie hadde utviklet et heftig emfysem. Da hun fikk allergidiagnosen fire år før hadde hun en lungekapasitet på 68 %. Nå var denne kapasiteten redusert til 38%. Og med dette fikk hun et nytt sjokk med på veien: Legen hennes ga henne uten videre beskjed om at hun nå hadde 2-5 år igjen å leve, og at hun burde tenke gjennom hvordan hun ville bruke disse årene og sørge for at hun fikk orden på det som måtte ordnes!

Litt av en melding å få for et ihuga friluftsmenneske som Julie! Hele hennes verden ble snudd på hodet i løpet av et lit øyeblikk.

Viktigheten av tidlig diagnose

Julie mener selv at hun kunne bevart mer av lungekapasiteten om de hadde gitt henne en riktig diagnose med en gang. For det første kunne hun ha kommet raskere i gang med erstatningsterapien og dermed bevart mer av lungekapasiteten. Men ved å i alle fall komme i gang med erstatningsterapi har utviklingen bremset opp såpass at hun nå fire år etter fortsatt har 34-36% lungekapsitet.

Erstatningsterapi

I USA og enkelte land i Europa tilbys pasientene erstatningsterapi i form av humant alfa-1-antitrypsin utvunnet fra menneskeblod. I og med at de fleste som mottar blodoverføring har tilstrekkelig alfa-1 antitrypsin selv, går ikke noe til spille ved å trekke ut alfa-1 antitrypsin fra blodplasma. Dette gis intravenøst. I USA har de fleste som får erstatningsterapi mulighet for å få disse infusjonene hjemme av et ambulerende team.Men selv om behandlingen bremser utviklingen på samme måte som enkelte medisiner mot MS, er det ingen kur i den forstand at man blir frisk. Da trengs det både genterapi og stamcelleterapi. Det forskes intenst på dette, men resultatene og anvendeligheten i forhold til pasienter ligger nok fortsatt et godt stykke fram i tid.

Røyking og forurensning.

En av betingelsene for å få erstatningsterapi er total røykestopp.

Dette var ikke Julies problem, hun er av de som aldri har røykt. Allikevel er genfeilen nok til å sørge for at hun fikk emfysem!  Flere andre som ikke har røykt, har jobbet i støvfylte omgivelser eller i kjemikaliedunster. Cleveland-klinikken i USA har vurdert at hver sjette pasient med konstatert KOLS har alfa-1-antitrypsinmangel, som ikke bare kan ødelegge lungene men også leveren. Heldigvis har leveren såpass store regenerende egenskaper at de fleste ikke merker så mye til problemer her.

Et følelsesmessig slag

Å få både farens og egne helseproblemer i fanget på den måten hun fikk det ble i meste laget for Julie. Hun gikk inn i en alvorlig depresjon som varte i to år. Den snek seg umerkelig innpå henne, inntil hun som alltid hadde vært sterkt uavhengig havnet helt i kjelleren. Huset så ut som en tornado av den ikke-hvite sorten hadde feid gjennom huset. Hun orket ikke engang å re sengen. Den sviktende helsen gjorde at hun måtte slutte å jobbe.

Den tidligere så utadvendte kvinnen var med ett blit tvunget til å holde seg mest mulig hjemme. Men etter at kjæresten ga henne klare meldinger skjønte hun at hun måtte ta grep og komme seg tilbake til et liv selv om dette ville bli annerledes enn før.

Hjelp og hjelper

Julie innså at hun på et vis hadde fornektet hele diagnosen da hun fikk den, for deretter å gå inn en lengre sorgprosess. Det at legen hadde gitt henne  to-fem år å leve gjorde at femårsmerket måtte passeres før hun klarte å skjønne at hun var en «overlever»  som ikke kom til å stikke av med det aller første.

Familien ble hennes store støtte i starten, men det var vanskelig å finne andre som hadde samme diagnose. Høsten 2004 startet hun derfor en egen støttegruppe som heter Alfa Loons of Minnesota. Gruppen tilbyr støtte, informasjon og ressurser til alfa-pasienter og deres familier. Sosiale medier som Facebook brukes flittig for å dele erfaringer, og hun er også knyttet opp mot Alpha-1 Foundation.

Julie har et bra liv i dag, etter at hun bestemte seg for å ta grep og begynne å LEVE. hun er en høyt verdsatt venn på Facebook, som alltid har et godt ord å gi videre eller hjelper folk å nøste opp i pratiske problemer som å finne en god lege med kunnskaper om alfa-1 mangel.

Julies råd til deg med KOLS – med eller uten alfa-1 mangel:

  • Dersom du får erstatningsterapi – ta den om kvelden siden den gjør deg trøtt (behandlingen er desverre ikke tilgjengelig i Norge pr idag)
  •  Gå i hi når det er forkjølelses og influensasesong. Sørg for å ha et lager av det du trenger i hus før vinteren så du slipper å stå i kø i butikker. Det er best å i størst mulig grad unngå syke, hostende kunder.
  • Ikke bagatelliser en hoste eller tett nese. Søk medisinsk hjelp før de vanlige virusene utvikler seg til lungeødeleggende infeksjoner.
  • Lev et sunt liv: Ikke røyk, begrens alkoholforbruket (også fordi det hindrer leveren i å produsere næring til blodet),  vask hendene dine ofte for å unngå smitte. Når noen kommer hjem til meg må de vaske hendene med antibac såpe før de berører noe.
  • I høytider som jula bør du be familiemedlemmer gi deg beskjed dersom de er syke. Julie holder seg hjemme for å unngå smitte om så er tilfelle.
  • Finn en doktor med kunnskaper om Alfa-1 mangel. Sørg for at du inngår som et team med legen slik at du spiller en aktiv rolle.
  • Gled deg over et sosialt liv og lev så normalt du kan. Du kan bli med på «skitur» selv om du sitter inne på skihytta eller i solveggen utenfor! Du er nødt til å komme deg ut for å holde deg på plass blant de levende.
  • Finn et støtteapparat. Du kan få nyttig informasjon fra dem og sammen kan dere backe hverandre opp.
  • Tren, men på dine betingelser. Hun gikk til et treningssenter og holdt på å dø av det fordi treningen ble for krevende. Nå rocker hun hjemme med WII spill en time noen dager i uka. Hunden hennes Topi, en labrapoodle, er en fin turvenn som drar henne med ut.
  • Pass på hva du spiser! Kullsyreholdige drikker som brus, øl og lignende gir luftdannelser og legger  press på lungene. Spis sunn mat og hold vekten nede om du kan.
  • your diet: Avoid gassy foods, like soda, which create bloat and pressure on the lungs. Eat healthy foods and keep your weight down if possible.

Men det viktigste i følge Julie er å unngå å få panikk.

Lær  deg mest mulig om sykdommen, lær å leve med den og med forandringene som kommer med KOLS. Men ta en dag av gangen. Det er helt greit å bli redd, men vit at du ikke kommer til å dø umiddelbart.

15 important articles on alpha-1 antitrypsin deficiency

Artikkelsamling

Thank you!

to Todd Pierce in USA for bringing these articles to my knowledge, and for allowing me to use it here! Below is Todd’s comments as to the content, but to use the link you need to register at http://informahealthcare.com.

After registration and log in  you can click on the link. Registration is free!

Now Todd’s text:

«Below is a series of 15 articles available for free, written by the most distinguished AlphaDocs on this planet for The Journal of COPD. This is a feast of information!
(informahealthcare is the publisher of The Journal and is hosting the web presence)

http://informahealthcare.com/toc/cop/10/S1

(This link will take you to the Journal of COPD’s special issue, from here you can choose the articles you want and download them for free.)

Alpha-1 Antitrypsin Deficiency is the focus of the latest issue of the Journal of COPD. The special issue of the medical journal commemorates the 50th anniversary of the discovery of Alpha-1, with articles written by leading Alpha-1 clinicians and researchers.

The introduction is written by Robert Sandhaus, MD, PhD, clinical director of the Alpha-1 Foundation and medical director of AlphaNet, and James Stoller, MD, head of respiratory therapy and executive director, physician leadership development at Cleveland Clinic, and a member of the Alpha-1 Foundation’s Medical and Scientific Advisory Committee. Sandhaus is the editor of this issue of the Journal of COPD and Stoller is co-editor.

The Journal also carries landmark articles by Swedish researchers Carl-Bertil Laurell, MD, PhD, and Sten Eriksson, MD, PhD, who first described Alpha-1 Antitrypsin Deficiency in 1963; and Harvey Sharp, MD, of the University of Minnesota, who published the first paper describing Alpha-1-related liver disease in 1969.

Among other authors and topics:

* European researchers Robert Stockley, MD, of the UK, Asger Dirksen, MD, of Denmark, and Jan Stolk, MD, of the Netherlands, on “The European Experience” with Alpha-1.
* Jeffrey Teckman, MD, of St. Louis University, on current understanding and future therapy of Alpha-1 liver disease.
* Stoller and Mark Brantly, MD, director of the Alpha-1 Research Program at the University of Florida, on the challenge of detecting Alpha-1.
* David Lomas, MD, of the UK, a personal perspective called “Twenty Years of Polymers.”

Gene-based therapy, augmentation therapy, and an examination of “Neutrophil Elastase-Mediated Lung Disease” are among the other major topics covered.

Available for free!

All articles in this issue of Journal of COPD are available free to view or download. A log-in is required, but it is free, or you may use a Facebook, Twitter or LinkedIn account to sign in.

«You must go to Elverum» – a story on red tape, weekly commuting and cronic illness

Troublesome equipmment

Troublesome equipmment

Healthy days

replaced the anxiety-ridden days in Pitigliano, but the «holiday» had taken its toll on me who had found myself in the nursing positition for 24 hours a day the two weeks while Geir was ill.

Slowly the world came back on track, and I got a two week sick-leave from my husbands specialist when we came to see him the first week after coming home. The specialist also found out that my former medicationfree AlphaOne finally responded to Atrovent and Ventolin – and sent with us a prescription for the medication plus a requisition for a nebulizer in addition to a two week sick leave for him as well. So far so good.

Norway – land of the bureaucrats?

As I happened to be in Oslo, and Geir still was recovering from his spell in Italy, I volunteered to go to the hospital our lung specialist had told us to go to to pick up the nebulizer (which can be borrowed from the health care system). It turned out they closed as early as 2.30 PM, and as I arrived at 2.35 nobody opened the door. Well, I could have checked that one before going, and Geir still had some left of the Italian medication. So no big deal. This one is on me.

«Is this adress correct?»

Back again the next day at Ullevål University Hospital and the storage unit for medical equipment. The door was now open, but service seemed to be a lacking word in the vocabulary. First one sour lady picked up my requisition, then an important looking man came back and asked sourly, «Is this adress correct?» He meant our homeadress in Koppang, northeast of Oslo.

«Yes, it is», I said, «but my husband has a work adress in Oslo and spends the whole week here.» «Ok», the man said, «but I cannot give out anything from here. You have to go to Elverum to get it.»

«????»

«That is the rules,» he continued.

«But Elverum is almost a two hours drive from here???»

» So are the rules», the man said, even more sourly now. «If you have adress Koppang, that is the adress we relate to, and you have to pick up the equipment in Elverum.» He gave me the paper back, and I realized this was no joke. We really had to get the equipment from Elverum, which on top of it all was 90 km from our home in Koppang.

«Who pays the cost for going to Elverum?»

I called Geir who could hardly believe what I said. But it finally dawned upon him as well that Elverum was the place to relate to. He got on the phone to Elverum Hospital the next day, which happened to be a Friday.

«Yes, no problem», they said. «You can come here and pick up the equipment.»

But realizing that he might not be the only weekly commuter in the country – he said: «But before I go I want to know where I can send the bill for lost work hours and travelling costs, since it so happens that I work in Oslo…»

It got quiet in the other end. «Eh, I do not know how that will be,» the person said.

«Well, you see, at my work we have commuters all the way from Alta in the far north to Kristiansand in the south, and I need to know since this might come up as a problem for someone else commuting from faraway. It is a question of principles here, since I am not the only cronicly ill commuter in the country, and I need to know how to help them.»

After a moment of silence in the other end, the person concluded that this needed some research, and my husband would get a phonecall from them on Monday.

Monday came, and he received the call rom Elverum Hospital, who wisely enough had decided they could send the equipment by regular mail. And so they did, and the equipment arrived on Wednesday, which was one full week after we started on the quest.

So far so good. We now had the equipment needed. Why dwell upon the details here?

Bureaucrats are hired to serve the PEOPLE!

This was Max Weber’s original idea behind hiring servants to take care of the people’s needs – servants today known as bureaucrats.

In this case, Hospital Administration and administration routines had first priority – not the patients needs. If saving money for the medical profession means dumping all the problems over to the patient something is seriously wrong.

This patient lived in Oslo during the whole week. He wants desperately to work instead of living on disability pension, but he was still quite sick, and needed his medication to breathe better – which in fact is a necessity to get enough oxygen to the cells of the body. The guy at Ullevål University Hospital had nothing wrong with his breathing. Besides he had not created the rules and should not get the blame here. But since it is a practical possibility to send invoices between hospitals – they do it all the time – why not hand out the equipment needed at the nearest possible place for the patient and leave it to the healthy bureaucrats to find a way of sorting out the money transfers or mail-delivered equipment later? The patient in question should have gotten what he needed right there and then. He was sick and suffered unnecessarily long from not getting it!

One focus – GET AS WELL AS YOU CAN!

Patients should have one focus – to get as well as they can to stay as workers as long as they manage. My husband was lucky, he had me there to run errands. I must admit I am happy he got sick in Italy – because if he had gotten sick here he would have been without proper medication for a whole week! There, in our tiny Italian town of 4000 inhabitants, I could get what I needed within minutes, included the medication of similar sort – without prescription – and I could choose between renting or buying the equipment. Rent was 1 euro a day – buying was 70 euro. We regret we did not buy one to take home from Italy. In Oslo with half a million inhabitants we cannot even buy it from a pharmacy! I tried!

So why whine since it all went well?

Well, I happen to be of the opinion that if you stumble upon a stone in the road that can easily be moved – it is important to try to move it so that the next person with maybe less resources does not have to stumble all over again! And in my frank opinion, it should be a lot easier to move a paper, an invoice or money than to ask a cronicly ill patient to run crosscountry to get what he needs to get well. Especially when it is a mantra in Norway that each and everyone of us are to work as much as possible until we hit the coffin. I think that calls for more flexibility from the bureaucracy than what we just experienced. The stone is not moved yet, but at least more people than us know it is there! And knowing is there is the first step in doing something about it.

The blog is not finished – it has just rested!

paaskeliljer

Resting a while is sometimes necessary  to digest all that life has to offer  for better or worse.  Therefore I have not written anything here for some months.

But first of all I wish every reader of this blog a good and relaxing Easter holiday!

What has happened the last few months?

First of all we needed to rest after all our calamities in Pitigliano. We needed to relate to my AlphaOne being cronically ill, and since we as a couple wanted a life that included travelling, we needed to find out how to deal with travelling. But what if this would happen and what if that would happen??? We needed to discuss the matter in all nuances.

Moving

Geirs employer had finally found him a better apartment, away from the most noisy crossroad in Oslo. Here he would have a garage space in the basement, elevator up to the apartment and even a veranda. So the first we had to do was to start on the moving process. Seven years of collecting stuff does not only apply to women! The new apartment was a lot nicer than the old one, and this new situation brought me into the thinking box as well.

More time together!

For me, realizing for the second time how quickly things could change from healthy to very ill, it was no longer satisfying  to live  in Koppang alone most of the week, waiting for a tired AlphaOne to come home on Friday only to leave just as tired on Sunday afternoon. So I decided to be the one to travel to find him in Oslo. I worked only three days a week and therefore we would have more days together if I went to him. So I went through some of my stuff to see what I could bring into the new place in Oslo to make it OUR home.

But then I suddenly discovered a job possibility I just had to grab – a fulltime job as information worker at LINK Oslo, a Center for Selfhelp and life mastering. So I applied – and got it! A miracle had happened – my first and not even planned attempt to look for a job had succeded!

Christmas and New Year

We had already booked tickets to Las Palmas before Italy – and now we had two good reasons to celebrate. New apartment + new job = new life!

Already in Italy we had decided not to let that lousy illness experience keep us from travelling. If we did our life would soon lack the quality and the colours we wanted. We decided to make sure for later travels that we were members of the airborne ambulance, that we had our travel insurances in order, that there was a hospital at or very near the destination, and not the least to make sure we brought along the paperwork showing Geir’s general values on «healthy» days and how they changed when he needed to go to the hospital.

And as to prove how correct our thinking was, this vacation went without troubles of any sort. We had a wonderful time, and for once my AlphaOne could breathe well and enjoy life – a life which included lazy days at the beach, long strolls and good meals. Our feeling of mastering the situation came back, and we were in a good mood when we came home. Me to slowly start out in the new job, and my AlphaOne to live at a place with no troubling stairs on troubled days.

A short stay in Paradise

After one week going to and from work by the subway, he started to feel lousy. So lousy that we decided the hospital had to be next stop for him. It turned out that he had gotten the swine flu  and the next day I was down with it as well. So now the idea of me visiting like a proper wife should,  did not hold water. I could not visit him at all, but while he was surrounded by white angels in a singelroom with full service,  I was left all alone in the double bed with no service whatsoever.  Now I began to understand the consequences of being the eternal AlphaTwo…. :- )

Back to normal again

Geir uses every opportunity to educate doctors and nurses about the mysteries of Alpha1 – some has some knowledge, some really have to read up, and some has never even heard about it and ask him to spell it for them…. This indicates the need of a lot more hospital stays – since this seem to be the only arena where doctors find the time to listen….Because they actually listen and give the best care possible.

Sadly this fact implies that it is necessary to be ill first – and that is not really tempting at all…

Death is a part of life

February was the month to get back on our feet again – but then March came along. To us it became the month of Death. First Geir’s mother, but she was 83 and had been sick for quite long and no recovery would have been possible. So this was a natural part of life we felt. Sad – but natural.

Then came the brutal death when a young man and close friend, a father to be in September, got killed in a car accident in Tanzania the day after we buried Geir’s mother. A week of mourning him was followed by more sad news.

Our   Alpha-1 friend Mario in Rome who had helped us so much when Geir was ill in Italy, had died after just a short illness, leaving his wife and three children behind.

This brought back the importance of keeping up the focus on alpha-1 antitrypsin defciency and the need of proper guidelines and testing. More on that later. Now we mourne our friend in Rome.

Early testing for alpha-1 can save lives!

Genetikk Alfa-1

Genetikk Alfa-1

Testing can save lives!

The recent death of our Alpha-1 friend Mario in Rome brought the alpha-1 problems back in full. It is not just  statisticical figures over a genetic condition – it is friends who  dies at an early age leaving their families behind. In Norway and most other countries health bureaucrats have decided that this disease need to be covered up under the COPD umbrella.

As a consequence there is no testing of babies for the alpha-1 antitrypsin deficiency.  No special guidelines for those with alpha-1 antitrypsin deficiency that has been discovered later in life. They do it and have it for cystic fibroses – and they do it for many other conditions like Føllings disease.  But in those conditions people die at a young age. With Alpha1 you seldom get the diagnose before it is too late! BECAUSE THEY DO NOT TEST!

No cure so why test?

“But there is no cure so why test? It will only get people worried, ” is an argument against testing presented by some patients and health personnel.

Fact 1:

If you have alpha-1 antitrypsin deficiency you need treatment quickly if you get an airway infection, quicker than for an “ordinary” COPD patient to prevent unnecessary lung tissue destruction.

Fact 2:

If you have very low levels of alfa-1 antitrypsin every  inflammation will increase the need for alpha-1 and reduce the amount available to protect the lungs. Many alpha’s have comorbiditys like Ulcerous Colitis, Crohns, Asthma, diabetes type 2, Fibromyalgia – all caracterized by silent inflammation that can be measured by micro CRP (c-reactive protein)

Fact 3

Augmentation therapy is used in many countries. It is very expensive, since it is derived from human plasma. But since most people does not need this as part of a transfusion – nothing is taken away from others in need. It is not a cure, but neither is insulin for a person with diabetes type 1. It is unthinkable not to give them insulin, maybe because they would die in front of you if they did not get it. But is a slow death so much better? With alpha1 your lungs might get ruined very fast compared to “ordinary” COPD emphysema, but you will not die or go into coma within few hours.

It works in other countries

How come Norwegian and Scandinavian  health bureaucrats have decided  augmentation therapy does not work?  Strangely the same therapy seem to work in other countries, slowing the lung destruction, increasing life quality and reducing the number of infections. The most creative answer to why UK does not have it came from Prof. Stockley: Because England did not provide augmentation therapy for their patients, “they could study the natural development of the disease…” What kind of ethic is this???

Moral?

Is it because it might  be your own fault since you have been smoking???? A question of morals?  But how would you know you really should not smoke, or get a job as a farmer, or as a baker, or in a mine or in a gas station? Or not paint your own house/apartment? These workplaces will also slowly kill an alpha 1!

To be able to avoid the worst pollution and prolong your life you do in fact need to know if you have the defect gene! Why does a  slow death in mature age seem to be accepted as “natural”?  These people also have family and friends. What “cost” is involved in losing your father while still a child?  Many alpha-1′s  have built up lots of competence in their work fields. There are many costs that are never calculated into the total picture of alpha1.

Money money money…

Does all this make it acceptable to refuse treatment? Again authorities hide behind impersonal statistics and tell us it does not work. Probably because it cost a lot of money… We in Norway have money more than most, but Germany with less offer the therapy and have alpha-1 centres for every 1.8 million people. Norway has none! Poor Italy has guideelines for alpha-1 that includes the fact that it is a liver disease and not just a lungdisease. Norway has not!

50 years – and still no cure…

It is 50 years since alpha1 antitrypsin deficiency was discovered!  25 years ago augmentation therapy was made available. There is still no cure, but many patients have been able to live good lives with high life quality because of this therapy. Statistics only from studies  are not good tools to decide if a treatment works or not. At least it should not be the only tool. Too many people have had to live lives with reduced life quality and an early death because of the so-called New Public Management which in its ugly consequence means health politics by calculator principles per bodypart.

Guidelines for COPD  – not good enough!

The new Norwegian guidelines for COPD mentions alpha-1 antitrypsin deficiency with a few sentences. But this is not enough! We need real guidelines for the specific problems Alpha1 antitrypsin deficiency represent, not some quasi-guidelines for another set of problems even if they at glance looks similar. Especially since there are many comorbidities, and since it is in reality a liver-disease. The liver must also be monitored!

So much to do – and so little time for those already ill!

There is so much to do – and for those who are sick from this genetic condition, we need to get things done quickly. They have enough with their daily breathing, and does not have the energy needed to fight red tape procedures.

What if we look at this from another angle?

How come many with alpha-1 antitrypsin deficiency even with the PiZZ gene does not develop lung problems and apparently does not have any problems with their liver either??? Is the modern diet with too much omega6 fatty acids in combination with too much carbohydrates and sugar causing the need for more alpha 1 than the patient has available?

Is it stress from childhood/puberty? Other stressors later in life?

Too little vitamin D or other vitamins/minerals deficiencies?

Early testing a must!

Whichever way we toss and turn this – we end up with the following answer: To prevent the worst consequeces we need early testing and more research into life style factors – plus augmentation therapy for those who have already developed a lung problem! And fifty years should be sufficient to come up with some constructive guidelines. And if the concept of early prevention of illnes should have any meaning, we have to find a way to get people tested! One day there might be a cure – and then we need to find the alpha-1′s fast!

The challenge of detecting Alpha-1 Antitrypsin Deficiency

Read more on this subject in this article by James K. Stoller. Because it is an acute phase protein alpha-1 antitrypsin deficiency can go undiscovered for years if tests are not taken twice. An infection which produce more alpha 1 can sometimes cover up the deficiency. Many patients therefore can be misdiagnosed for years – the average being around nine years.

http://informahealthcare.com/doi/full/10.3109/15412555.2013.763782

(You must register to informahealthcare to get acess to the article)

Personal views

The above is my personal views as an AlphaTwo – married to an alphaOne. I want my husband around long enough to see grandchildren grow up and to enjoy all we want to do as a couple!

From holidays to hellish days to healthy days are here again!

Alpha-1 at the Spanisk Stairs, Rome October 2012

 With Alpha-1 (Alfaener) and Alpha-2 (Alfa-toer)*  to Italy!  (*alpha-2 is my nickname as spouse of an Alpha-1)

Finally it was time for the long planned Italy vacation. Alpha-2 left first to start her own journey in Bologna and Monterenzio, before Couchsurfing in Borgo san Lorenzo and then train to Rome to hopefully find her Alpha-Two at Termini station.

We had looked forward to this for so long, and was not especially worried even if Alpha-1’s home spirometry was not too impressive when he arrived in Rome after a hectic week at work. We stayed in privat accomodation via www.airbnb.com, and enjoyed being well off the turist trail.

Instead we had another Alpha-1, Mario,  within walking distance, and used the opportunity to meet a «relative».  And a couchsurfer, Laura, also within walking distance. So the first two days we just walked around in the neighbourhood, which was like a small town in itself.

But you do not go to Rome to avoid all the sights, so the third afternoon we braved it and took a bus downtown to Piazza Barbarini. From there we did the tourist walk, included taking a horse carriage from The Spanish Stairs to Fontana di Trevi. So many tourists, and this was not even the tourist season! The next day I took my camera and went on my own camerabusiness downtown, while my Alpha-1 chose to rest in the neighbourhood. We spent a nice evening together at a local restaurant and was quite happy even if Alpha-1’s breathing did not improve and his stomach did not enjoy life as much as its owner.

Colosseum, Rome, october 2012

Our last day in Rome we left for Forum Romanum and Colosseum. It was a beautiful warm summerday, 28C, the kind of summerday a frozen pair of Norwegians had dreamt about all the rainy sommer. I bought us each a bottle of water for our walk, but soon noticed that my Alpha-1 had not even touched it. So as usual a wife starts nagging, but Alpha-1’s are not easily housetrained, so no surpise, it did not help.

It was a tired Alpha-2 who finally went to bed that night. FEV1 was even further down than before, so I started to get worried as wives normally do, but he just brushed it off. The puls-oximeter was leftbehind in Norway, and this troubled me a bit. But shit, stop worrying I told myself. You are on holiday!

Hellish days about to begin

The next day we took off to Termini again to go to the airport and pick up our rental car for our next two weeks in our favorite Italian village Pitigliano in southern Tuscany. It was our third time here, so we had friends waiting for us and our spirits were high. We stopped at a restaurant by the sea on our way and had fish and seafood for lunch.

And then we were there – at at our tufo village with its fabulous skyline looming above the road. We had rented a house in the middle of the historical center, but I was not prepared for all the steps that came included in the deal. The house itself had plenty of stairs, and also you had to go down about twenty steep stairs from the street to the house itself. A nagging feeling came over me, what if my Alpha-1 would be sick while we were here? From his past pneumonia I knew how week he could become in just a couple of hours. But I shook the feeling off, and we started to enjoy being back in «our» town.

I had long wanted to invite our friends on my Norwegian specialty Bacalao de la Vega – and so during Sunday all invitations were out. Then came Monday, and my Alpha-1’s stomach started to really make trouble. He became weak as a newborn kitten, and I got really worried. What was this??? In the evening I went to find my friend Elisabetta, who was willing to drive him to Pronto Soccorso – the emergency room at the local hosital. The town has only around 4000 inhabitants, so we did not know what to expect. But by the help of our friend we got his SO2 checked, and also hil pulse. All normal. A stomach virus from seafood or icecream was the plausible verdict, and so we went home with a prescription of Potassium/Magnesium and also some probiotica.

The next day Geir tried to drink more water, and felt a bit better. But as the guests started to arrive for the bacalao-party he had to give in and go to bed. All he drank came straight out again, and the breathing was not good. So we decided that if he was not better the next day, we had to go back to the hospital again.

Hellish days continues

The next night was among the more unpleasant we have had.  Alpha-1 was at the bathroom every hour – at least if felt like that for me – trying to sleep in the midst of my worries about what was going on. I had been out with my Iphone googling dehydration, which started to creep up in my mind as a possible cause for all this. At a certain point in dehydration there is not enough electrolytes for the cells to operate properly. The result is they can no longer take up water, so it does not help how much you drink  – it all comes out again. This can be dangerous and I felt a desperate need to get him back to the hospital.

Thanks to my friend who again found the time to go with me to the Pronto Soccorso, and my Iphone with ITranslate i was able to explain about Alpha-1’s situation, and how worried I was. Wonder over all wonders, it was the same doctor, who already at our first visit had made it lear that he knew about alpha-1 antitrypsin deficiency. This time there was no hesitation. The ambulance was ordered to go and pick him up in the histrical center. They knew the adress, so I could just go home and get my husband ready. We had our European Health Card with us, so at the moment he was like any other Italian sick person.  Travel insurance was not important at the hospital.

«Standard Procedure for Alpha-1»

So home I ran, and had hardly gotten him ready to leave before they rang the bell. But he still had to walk all the stairs up to the first road, which is to narrow for the ambulance. Then yet another flight of stairs to the piazza. He does not remember a thing from this walk, but he made it as the strongwilled alpha-1 he is! Finally at the hospital he was given IV salt-solution while they got ready for bloodtest and the rest. Again, SO2, pulse and this time also ECG. Then came the first positive shock when the doctor says: «We must remember that alpha- 1 is a liver disease. » Two years with the diagnose in Norway and not even one lung specialist had said anything about the liver. We knew because we had learned a lot on our own and through our Facebook-groups, and had tried to get ultrasound for half a year. The first apointment at home were cancelled due to little capasity – and they made it clear that this was not something they normally did.

But in this little town in poor Italy – next step was Xray – not only lungs standing, but also laying down. Then the biggest surprise – ultrasound! I was asked to join and could se the ultrasound man taking a lot of pictures of all soft organs.  I crossed my fingers nothing was wrong, we had had no indications so far…  And nothing was wrong! What a relief! No bacterial infection since the white blood cells was also normal, but very week from dehydration. So while there he got more IV salt water and glucose to gain some strenght. Later the same day he was reliesed, and we got the paperwork with us home. (Forgot to mention that by chance I had also his papers from Norway with me, so the doctor could compare results)

Moving to «piano terra»

I knew some of our friends had a two-room apartment just in from a side street, and after seeing how hopeless we lived if anything happened decided to ask them if we could rent it for the rest of our vacation. I did not want to spend one more night in the house, no matter how beautiful it was and no matter what a fantastic view we had.

They said yes at once, and Marcello would come down and help Geir up the stairs later that day. I packed and moved everything from the house to the apartment, so these days I did not need a healt studio for exercice!

Finally installed in our new quarters I felt relieved. From here it could only go forward , we both thought. But Alpha-1 and Alpha -2 were not allowed a long stay in Paradise.

Hellish days continues!

Geir understood by now the importance of drinking enough water. But the days with diarrhea had taken its toll, and to start eating again became a problem. What to eat? From a year in Houston Texas a long time ago I had learned that chicken soup is the solution to every health issue, so I went out shopping what I needed.  In addition I had oat flakes, and oatsoup is a well known remedy in Norway.  So let us combine them!

And small espresso cups by small espresso cups the food went down – and stayed down!

But then a new nasty surprise: coughing! My alpha-1 has never been troubled with that, so the nerve-racking coughing spells that now started, especially at night was another new and unwelcome guest.  We were both tired after many nights with little sleep, and this scared us!

Alpha-help is near!

During all these ordeals I had been in contact with our alpha-1 friend in Rome. And now, almost desperat, I sent him a new text message, explaining the problem and asking if there was anything more we could do. And then the relief when he answered that we could send the papers from the hospital to him. Then he would contact his specialists in Rome and call back.

Next step – the public library and my librarian friend. I knew she had a scanner there, and could help me with this. And Elisabetta was again a true friend, putting everything aside for me.

Then, finally, the answer from Mario who had heard from one of his doctors: Due to the dehydration my Alpha-1 had gone through, the lungs were very dehydrated. Now hydration had started again, and the irritation came with it. Nothing dangerous, nothing bacterial, nothing to worry about, just damned unpleasant. But we could go to the pharmacy the next morning and buy some stuff and get an aerosol nebulizer. That should do the trick.

Alpha-1 with a new friend

Healthy days are here again!

Off I went, and the sweet girl at the pharmacy had everything I needed, included a nebulizer we could rent for 1 euro a day – or buy for 70 euros. We decided to rent, a decision we regretted later. More on that in the next post.  And now finally – at the very last days – things started slowly to improve. But my Alpha-1 was still to weak to travel anywhere, so we decided we had to stay on some more days to help him recover a bit more before going back to Rome and fly home. Rearranging our trip went without problems – and now even the weather started to improve from bucket fulls of water to nice warm sunshine. We went our daily walk to the piazza for our coffee… and even further as his condition improved – the sun was shining and life was finally back on track again.

Life was good again in Pitigliano, and we had learned another new alpha-1-lesson: Always drink enough water! Dehydration really affects the lungs! And also on hot days, get enough salt!

WARNING: NORMAL REFINED TABLESALT IS DEPRIVED OF ELECTROLYTES THE CELLS NEED! USE ONLY UNREFINED SEA SALT OR HIMALAYASALT WHICH CONTAINS ALL MINERALS AND TRACE MINERALS.