CFW Newsletter - Edition 6

Roosmarijn

Some of you may have read my article in the August 1999 IACFA Newsletter. I reread it before I started writing this “sequel” and I was shocked at the sad tone of the first article. This must have been because of the situation at that time but many things have happened since.

I will start with a short overview of the first article. I’m a 45-year-old Dutch guy with Cystic Fibrosis. When I was diagnosed at the age of 7, I was glad I didn’t have asthma…Well that certainly changed! I made it through primary school, high school and university. At the age of 24, I had qualified as a medical doctor. I realised during my internship that wanting to become a thoracic surgeon was not the healthiest job for a person with CF. Working in an operating room for hours without being able to have a good cough is “killing.” (I do not think it was very healthy for the patients, either!) So, I changed to cardiology. Then the problem of not having asthma arose: my lungs had deteriorated to the point they needed replacement.

In March 2001, I got my lung transplant. Apart from one major complication (a lung empyema), the transplanted lungs worked perfectly. This lung looks baby pink, doesn’t it?


One of my lungs in need of a transplant	My transplanted lung

I truly enjoyed my newfound health and I did lots of great things. I broke my hip because of too many sporting activities. I also travelled, worked as an occupational physician (immunosuppressants and working in a hospital did not seem like an ideal combination) and met Jacqueline, the mother of my daughter Roosmarijn.

In 1997, my kidney function started to deteriorate due to cyclosporine # toxicity so in June 1998 I had a kidney transplant. It should have resulted in a much-improved sense of wellbeing, however I had lots of problems afterwards: bacterial infections of my lungs; CMV (cytomegalovirus) infection (the kidney donor was CMV positive); *. Possible rejection of my lungs; Possible aspergillosis (fungal) infection….

Did I miss something? As you can imagine these were not my best moments! We have now reached the second quarter of 1999, when I wrote part 1.

Editor’s Note:
# Cyclosporine is used to prevent rejection of transplanted organs

* CMV is very common and often people are unaware that they have it, but it causes illness in persons with weakened immune (systems such as after an organ transplant) when a person’s body can no longer hold the virus in check.

As some of you may remember, we set out for a holiday to Italy, which was enjoyable, although a beach holiday is not exactly our way of spending a holiday. Back home I had to get on with my life. My biggest problems were shortness of breath and my fluid balance. I started with a training program (walking, cycling and fitness) and after a while, I went back to my job for just a few hours a day. Slowly but surely my physical condition improved. I needed less diuretics and I was able to walk longer distances. My working hours got to 5 hours a day, 4 days a week. I was not feeling as good as after my lung transplant, but maybe that was expecting a bit too much!

Some years went by and we saw little kids being born. Jacqueline is 10 years younger than I am, so a lot of her friends where at the age of having children. Friends of my age had passed that point and their kids were already older. I had never thought about becoming a father, because that was not possible for me. But, medical technology progresses and we heard about IVF (in vitro fertilisation), ICSI (intra-cytoplasmic sperm injection), PESA (percutaneous epididymal sperm aspiration), MESA (microsurgical epididymal sperm aspiration) and TESE (testicular sperm extraction). These options sounded hopeful! And, it kind of feels good to know that someone very close to you lives on, once you’re not there anymore.

Male reproductive organs

I think a short intermezzo is in place. As most of you know, the major cause of infertility in men with CF, is obstructive azoospermia (no sperm in the ejaculate) because of absence or complete blockage of the vas deferens (the tube that carries sperm from the testis out through the urethra during ejaculation).

Now, if you can get a sperm from the epididymis or testis (PESA, MESA or TESA) and inject it into an egg (ICSI/IVF) an embryo may develop. Implant this in the uterus and maybe a baby is born in 9 months. Sounds simple, doesn’t it? However, it is the most advanced medical technique available at the moment. In fact, it is THÉ hope for the infertile CF male wanting to become a father.

In the Netherlands, we have high tech medical health care, but not everything is allowed. One of the things that are not (yet) allowed is ICSI with PESA, MESA or TESA. We were lucky. In the University Hospital of the University of Nijmegen (Radboud Hospital), they had started an experimental project/study with PESA/MESA and ICSI/IVF. We were accepted for this study after rather extensive screening. Jacqueline was tested for carrying the CF-gene: she was negative. Again, we were in luck. This meant that the “baby to be” would not have CF. However; the child would carry the CF-gene.

They performed a PESA, which showed some sperm, but they were not good enough for freezing. That meant that they had to do an acute PESA the moment they took the ova (eggs) from Jacqueline. This time we were not lucky: they could not find any sperms in my epididymis. It meant the deal was off: in Nijmegen they could not do anything for us anymore (TESE was not allowed).

“I have a theory that every CF boy should have their sperm cryopreserved (“put on ice”) and stored by the age of 18.”

Possibly my age (the vas deferens blocked from birth), the lung transplant, the immunosuppressants and the kidney failure have not done my sperm cells much good. Possibly that is why there were not many sperm in my epididymis. I have a theory that every CF boy should have their sperm cryopreserved (“put on ice”) and stored by the age of 18. This may improve their chances of becoming a father. Perhaps some specialists in this field could give their opinion.

We knew that there was the possibility of TESE, although not in the Netherlands. For this we had to go abroad: to Belgium, Germany, or almost any other country in Europe (or the world for that matter).
We went for the German Connection: a “joint venture” between a hospital in Arnhem and in Düsseldorf. This German Connection was not covered by our Dutch insurance, so we had to pay a large part ourselves. This could be a problem for people who do not have the means to pay for this kind of treatment.

In Arnhem they prepared Jacqueline for the collection of the eggs. Also in Arnhem they took a small tissue sample out of my testis (under general anaesthesia, as male readers will appreciate!). This sample was sent to Düsseldorf for cryopreservation. At the appropriate moment, they took several eggs from Jacqueline’s ovaries (under local anaesthesia, which was quite bearable according to Jacqueline). With the eggs now taped (!!) to Jacqueline’s abdomen, keeping them at the right temperature, we went to Düsseldorf by car. At the clinic, they had isolated some sperm from the tissue sample taken from me previously and injected the sperm into the eggs. The next day we were told to call and hear if the fertilisation of the eggs had occurred. The first time none of the attempts led to a fertilised egg. As you can imagine, we were very disappointed. Even a slight doubt arose: will it be possible for us to have a child this way?

We started the procedure a third time! Let me tell you a small anecdote, which happened during this cycle. Part of the IVF treatment is injections with different hormones. One day Jacqueline was in Amsterdam at the “Leidseplein.” She injected herself with the prescribed hormones in an obscure toilet with those blue lights to prevent drug addicts from finding a vein to do their thing…..

There’s a Dutch saying: “Drie keer is scheepsrecht” which in English means, “third time lucky”: and we were. Four eggs were fertilized and 2 were transferred into Jacqueline’s uterus. The other two were cryopreserved. After two weeks we did a pregnancy test: it was unclear. We repeated the test one week later: it was positive! Wow!!!

The ultrasound at 7 weeks showed one beating heart. Ultrasounds at 13 and 20 weeks showed a perfectly growing tiny baby. We knew it was going to be a girl. Jacqueline’s pregnancy was completely normal and we decided to have the baby at home. At the last moment, however we had to go to the hospital because the dilation of the cervix was not progressing sufficiently. Roosmarijn was born by means of a vacuum extraction delivery. She was an ugly little girl (my opinion, Jacqueline does not agree), nevertheless a miracle girl! We were very, very happy.

The first few weeks of Roosmarijn’s life were seemingly uncomplicated. However, she stayed jaundiced. After three months, we found out that the values of the liver enzymes in her blood were seriously elevated. Tests followed, they even checked her for CF. They found one of my CF genes, but only one! Now we are certain they did not change the Petri dishes in the hospital, Roosmarijn does not have CF. They found nothing wrong, and the values in the blood started decreasing. Diagnosis: idiopathic neonatal hepatitis meaning an inflammation of the liver for which no cause has been found. In December 2004 Roosmarijn celebrated her first birthday: she is doing fine!

“Roosmarijn would not have been born without the people from whom I received my lungs and kidney. I owe them and their families many thanks and I will never forget that.”

Looking back you may appreciate it has being an emotionally draining period especially for Jacqueline. Knowing that there is a sweet little girl sleeping under our roof, our daughter, makes up for many things! Roosmarijn would not have been born without the people from whom I received my lungs and kidney. I owe them and their families many thanks and I will never forget that.

The Lijnsveld Family

It is a great experience to be a father. It is also an exhausting experience. The following question lies ahead: do we want another child? Jacqueline says yes, and I, at the moment, say no (because of the energy it costs to take care of a child). But who knows?

Our next challenge is a vacation to Australia. For years, we have wanted to visit this beautiful large country “down under” and we are planning to go ahead together with Roosmarijn. Maybe we will meet some of you out there.

Rosmalen, The Netherlands
dick-lijnsveld@wxs.nl