Interview with Anne Siqveland and Nicolai Wendt (parents of Tellef, 1 year old)

Who are you and what is your relationship to OI?

We are a Norwegian family of four, Anne (36), Nicolai (34), Edvard (4) and Tellef (1). Tellef was prenatally diagnosed with OI and his multiple fractures and mutation of COL1A2 gene place him in the type-III category.

How is it like to be new parents of a child with OI?

Our main focus as parents is the same as with our oldest son, but of course there is an extra dimension to consider when we make plans and care for Tellef. The diagnosis was unfamiliar to us and we have spent a lot of time learning about OI, what to expect, how to best care for him in various situations and of course with accepting and coming to terms with the situation. We are inching closer to a “new normal” but there are always new challenges and unknowns.

Why did you decide to join the project BOOSTB4?

OI is rare, but thankfully there is a lot of knowledge about the diagnosis internationally and with the doctors that care for Tellef. A lot of measures are taken to improve his quality of life. He has received bisphosphonate treatment regularly since he was 3 days old and we focus extensively on physical therapy. Furthermore, he has recently had corrective osteotomies of both femurs and tibias and telescopic rods now support both legs. Still, when presented with the opportunity to participate in this stem cell treatment trial we felt that the potential benefits outweighed the potential risks.

We actually learned about the research project before Tellef was born. His grandmother had scoured the internet for information about the diagnosis and available treatments. But at the time everything was too raw and fresh for us to be able to look more than a few weeks ahead at a time. After a few months we revisited the “Boost Brittle Bones Before Birth” (BOOSTB4) project information and read up on the handful of earlier cases where stem cells were administered to OI-patients. Unfortunately, we made the faulty assumption that the research was well under way and that it probably was too late to take part.

Late last year a doctor from the “TRS National Resource Centre for Rare Disorders” reached out and informed us that she had met with Dr. Götherström and Dr. Åström from the BOOSTB4 project. She had in general terms mentioned Tellef and his situation and it became clear that he was an ideal candidate for the research project. As soon as we learned this, we reached out to Dr. Götherström and the screening process began.

Can you tell us about the project?

The trials are split into prenatal and postnatal groups. In addition to this, there is a control group. To participate in the postnatal group the child has to be less than a year old and has to have had a definite diagnosis of OI type 3 or severe type 4. The study runs over 10 years but is based around four stem cell infusions administered with 3-5 months in between. Blood tests are performed before each treatment to ensure that there are no reaction towards the stem cells.“ The infusion itself takes around 10 minutes but the patient is monitored for 48 hours after. In our case this takes place in Stockholm, Sweden. Blood samples are taken to check that the stem cells do not trigger any unwanted response. DXA scan is performed once per year. When he had his osteotomies, bone and bone marrow samples (that would otherwise be thrown away) was sent to the BOOSTB4 team. This is optional, but we opted to share biological samples with the research project. We keep a project provided diary of his perceived wellbeing (monthly and after stem cell infusions), milestones, fractures and larger medical procedures. The doctors at home have agreed to assist with testing, sending samples, and sharing information with the BOOSTB4 team.

Did you have any second thoughts?

Of course, we gave serious thought to the potential risks raised by the trial and we were also warned that this would increase the overall treatment intensity. Even though we have little to no free time as it is, the latter was never really an issue. The former we considered more closely. Although not generalizable, we looked at the (lack of) side effects in the old cases and weighed against the potential benefits the choice was quite clear.

Would you recommend being part of research to other parents?

It is difficult to give a general recommendation, but we would definitely recommend the BOOSTB4 project for those in a position to participate. Of course, there are the potential benefits directly related to receiving the stem cell infusions and the hope that the project leads to a new treatment. In addition, we have had very good interactions with the professional and friendly team of doctors and researchers involved with the project. In some respects, Tellef receive double attention as we receive check-ups and advice from both our Norwegian doctors, and the BOOSTB4 doctors.

Do you have any messages to the readers?

As «new parents» to a child with OI the support and information we have received from OIFE and the Norwegian group, NFOI, have been tremendously helpful. We are ever so grateful. If any parents out there are curious about the project feel free to contact us.