Rare Disease Day 2012

Elliot on the top of a snow hill

After a long waiting the winter finally arrived to Stockholm for a couple of weeks, but now it seems like we're heading for springtime.

At our last visit to the hospital Elliot met a pshysioterapeut and last week we met her again and this time Elliot did some exercises that he enjoyed. He also got some exercises to do at home.

From now on it is the pshysioterapeut that will handle the 6-minutes walking test and she pushed Elliot (in a positive sense) to preform really well and he walked 455 meters! Unfortunately the saturation and pulse meter was broken so the pulse had to be taken manually. We have also met Elliot’s doctor for the usual examination (EKG and cardiac ultrasound) and the doctor couldn't see any changes, which we consider positive.

Elliot with physioterapeut

The day after tomorrow it is Rare Disease Day, but the Swedish patient association for PAH, which I now am chairman of, will not arrange any event. There has been a lot of administration with the association and not enough time to prepare. But I will attend a conference arranged by the association Rare Diseases Sweden on February 29.

Past weeks have been terrible and we need to find a solution

Elliot loses his temper far too many times a day. The most critical point is during the afternoon and almost every day he gets a big outburst when we get him from school. I don’t know how much of it that is connected to Elliot’s disease but I suppose the disease is a key factor.

Facts

• Elliot is tired after a day in school
• It’s getting colder and darker. In Sweden the temperature right now is about 3-5 degrees Celsius and it is dark when we wake up and it is getting darker every day.
• Elliot’s dose of Revatio has been doubled since our last visit at the PH-doctor.

If you have experiences that you would like to share or suggestions of how we can improve our situation please comment.  


Update: Elliot has been complaining about headace the past week and one of many potential side effects of Revatio is headace. Elliot today said that the headace easily gets him in a bad mood. 

Public performance

March 16th I am invited to speak about beeing a parent to a child with PAH on a event arranged by the Swedish PAH association. I'm looking forward to the event and the possibility to meet new connections who are engaged in the disease.

You will find more information about the event at: www.pah-sverige.se (in Swedish)

Chest pain and PAH?

Elliot is more aware of his disease and for the first time he doesn't want to take his medicines without us arguing with him. He often wants us to read a book about a girl who goes through the same kind of heart surgery that he did. In the book the surgery is performed by a doctor named Torsten and every time we read for him he says: “the doctor that mended my heart, his name is also Torsten”. And that is correct, it is the same doctor. Carolinas hjärta (Carolina’s heart) is the title of the book and I can recommend it if you know Swedish.
Quit often he says: "can you feel how much my heart is pounding". During our Christmas holiday Elliot said that it is aching in his chest, when we asked him if he had felt pain in the chest before he said yes but he also said that he deliberately had not told us so that we would not worry. When we asked Elliott’s doctor about this he told us that PAH patients can feel chest pains but that it is not common. Does anybody have similar experiences?
 Otherwise it is status quo, which is positive. Mentally he is preparing for school that starts this fall. He is curious and a bit nervous as most kids are.

Tired and angry



Spider-man

 Right now we're quit tired as a family. Elliot has been tired lately and when he is tired he can't control his temper and he explodes several times a day. This is frustrating for me and Marie, we try not to be dragged along, not to lose our temper, but it is difficult.
Last week we were at the hospital for Elliot routine control and the condition test result was similar to the two latest tests. This was positive because I feared that the test would show that he had become worse. We talked to Elliots doctor about two medicins that one of my readers had mentioned: Letairis (ambrisenten) and Tyvaso (treprostinil). The doctor was uncertain if they were available on the Swedish marked but he said that he would check it out.

Back in town

Back in town after two months in our cottage. It is always kind of strange to come back to Stockholm after being in the countryside. While we are in the cottage life is simple and without routines, we wake up and if it is nice weather, perhaps we go to the lake or into the forest. Days passes by. This summer was the first with three children and that was kind of interesting; there is always someone who is tired, hungry, in a bad mood, or pulling your leg. Now we're back in our daily life routines; work, child care, dinner, sleep. We are very satisfied with our summer holiday but now it feels good to have these routines.

Marie feels that Elliot have been more tired this summer, but I haven't noticed any differences. But I trust Marie's senses more than mine in this case. This week at the child care the staff have mentioned to us that Elliot has been more tired than usual. Next walking test will be in September.
Next week Elliot will be 5 years old. Every morning he wonders how many days it is left until birthday. Right now he is into Spider man and Spider man things tops his wish list.
This Sunday I look forward to an appointment with the chairman of PAH Europe who will come to Stockholm to attend a Cardiology conference. I will met her as a representative for the Swedish network for PAH. I haven't been working with the Swedish web page (http://www.pah-sverige.se/) during summer but before we went to our summer holiday I did start a Facebook group and now the group have 23 members.

Take care

Web site released!

Before I have written about the Swedish network for PAH and my ambition to get engaged in the network. Finally I decided to take the responsibility to create a web site for the network. This was the first time since 1997 that I have created a web site and I must say that a lot have happened during this time. When you created a web site in 1997 you had to write the HTML code and create the graphics by you own. Now days creating a web site can be done just by drag and drop. You simply choose what theme you wish to use and what features you want. I used the very popular blog/cms tool Wordpress and the result of my drags and drops you can see at: http://www.pah-sverige.se/. The information is in Swedish only. I have also started a facebook group where the network members can get together virtually and exchange experiences. A question to you who reads this, are you member of a facebook group dedicated for PAH? I have not found an international facebook group for PAH, have you? Or, should I start such a group?

Yesterday Elliot did the 6 minutes walking test again but this time my wife, Marie, went with Elliot and I have not the numbers but Marie told me that he didn't walk as long as the last time but in the other hand his saturation and pulse was better this time. Last week Ida, our daughter, was examined by a doctor to make sure she doesn't have PAH. The result was positive and now both Olle and Ida have been examined.

Last week’s we have had real summer weather in Stockholm and now it's only 4 weeks until my summer vacation starts.

Diagnosis: life crises

At the latest walking test Elliot managed to walk longer than before, but his saturation and pulse was higher than before. There were no indications from the heart and lung check with ultra sound that his condition had changed. Now days, that feels like positive news. Life really is strange.

Last week we had a meeting with the psychologist that we have met a couple of times since last spring when Elliot condition was worse. Elliot was with us and this time he wasn't really interested in talking about his disease, but still it was great to hear him discuss his life from his point of view with the psychologist. Yesterday me and Marie had a follow up meeting and we were told she couldn't see that Elliot was in a need to meet her right now. But, she said, she had written a diagnosis, and it said: life crises and there she has a point. We (me and Marie) are in a constant mode of life crises, sometimes it's better, sometimes it's worse.

Today I got a letter from the Swedish PAH group, they are asking for help to put up a web site and to contact medical companies for financial support. I will engage, but I haven't decided how yet.
Right now, we are so much looking forward to meet the spring. Yesterday, we had snow again, bah!


Finally, I really apreciate all the comments I get;)

Notch-3

Scientist in the US have discovered that PAH is characterized by overexpression of the protein Notch-3. The discovery, presented 25th of October, is described as ground breaking for future medicins for PAH. It will be interesting to see how long it will take from discovery to a medicine. 5 years, 10 years?

http://health.ucsd.edu/news/2009/10-26-pulmonary-arterial-hypertension.htm

PAH meeting in Stockholm

Two weeks ago I and Marie went to a meeting that was arranged by the Swedish network for people with PAH. The information about the meeting reached me from a contact in the Norwegian PAH-forum just a few days before the meeting (thanks Kristen). The meeting was financed by Actelion, the company behind the medicine Tracleer (bosentan). The person representing the company said that only 5-7 children use Tracleer in Sweden. Both Olle (16 months) and Ida (4 weeks) did come along at the meeting, so it was hard to stay focus all the time;)
For me and my wife this was the first time we met other persons with the diseases in real life. About 20 persons with PAH came to the meeting and it was interesting to hear their stories. If I remember correctly none of the participants was diagnosed with PAH before 2005. What I have read about the disease, woman between 20 and 40 is an over represented group but most of the participants was woman +60. I wonder why?
The main purpose was to get people with the disease together, but the network also had invited a PAH specialist and his team from the PAH center at Karolinska University Hospital in Stockholm. For me it was news that it did exist a PAH center in Stockholm. This center is for adults only and not for children, but still I think it is strange that they have not told us about this center at the Astrid Lindgrens Child Hospital where Elliot is a patient.
Today the people behind the network consist only of three amazing persons and this, I think, was the 3rd or 4th network meeting they arranged. We were the only ones with a child with PAH at the meeting and after the meeting a volunteered to become a member in the network and a contact to other parents with children with PAH.





The photo shows Elliots drawing of our family. This was the first time ever that he was drawing humans at home.

A day at the hospital

Today we took both Elliot and Olle to the hospital. First Elliot did the condition test and this time it was positive, his sat before the test was 96 and the pulse 86 and after a 6 minutes’ walk the sat still was 96 and the pulse not higher than 90. This was the third time he did this test and this time he walked 328 meters compared to 250 meters the other times. The heart and lung check with ultra sound did not say anything new; the doctor only mentioned that the right heart chamber not had changed which is positive. The doctor also looked at Olle with ultra sound, this just to make sure that he not has the same symptoms as Elliot. Olle was okay so this was probably the last time Olle had to do this test.

Right know I’m tired but happy, these days at the hospital takes all my energy. Hopefully we don’t have to return to the hospital before August/September. In mid June we will go to our cottage in the Swedish west coast and we will stay there for more than 2 month. It will be luxury to be all together for such a long time.

We are not alone

Right now a lot happen, I heard from another parent that there is a big international study going about children and PH. I think there is a new medicine that is being tested. I wrote a mail to a professor in Sweden who is a specialist in PH and who is involved in this study. In the letter I described Elliot’s history with PH and I got a quick answer. The professor’s opinion was that we have the best treatment there is to have.

The day before yesterday I made my first entry to the Nordic message board for PH. I have already made contacts via this forum and it feels great to know that you are not alone in this mess. I have also found the message board that PH Association has and it was a positive discovery to find that they have a forum for parents with children that have PH. You will find the links to these two boards in my link list.

Yesterday I paid a visit to my ear doctor and this was not a positive meeting. I now have Ménière’s disease (tinnitus, loss of hearing, dizziness) on both my ears. I got diagnosed for Ménière on my left ear in 1996 and now it’s on both my ears. My belief is that it is Elliot’s disease has to do with this negative progress, I worry a lot and this affects my hearing.

Springtime in Stockholm

It's springtime in Stockholm and all over its green. It's really beautiful know. Since our last visit with Elliot to the hospital in February we have had a really good time. Both I and Marie have been home full time with our baby boy Olle and Elliot have been okay. When Elliot is playing and running he has to do frequent stops because his "legs are tired" as he explains it. But beside of these symptoms and that he has to take medicines three times a day we don't notice his disease. But still we worry a lot...

Our next visit to the hospital will be in late May and the routine is that he first do a condition test. He walks for 6 minutes and before and after the walk a nurse checks his pulse and saturation. Then the doctor checks his heart and lungs with ultrasound. But without catheterization it's difficult to say something about the lung pressure. The latest cat was made in December 2008 and the outcome was negative, Elliot has not responded to the medicines, but we still hope for a positive change.

During this spring I have got in contact with some other parents who have children with PAH in Sweden. But since the disease is very rare my hope with this blogg is to get in contact with parents outside Sweden.