Octavian's SDS Story 2: A Rare Gem with EFL1, Year Two

"We have reached the stage of acceptance and trying to live life the fullest despite SDS" Shares Octavian's dad, Raul. Read this Romanian family's story, here.

Octavian’s SDS Story – Our rare gem with EFL1 second year

One year has passed since we have shared with you all our first year as a family of 4.

In our first chapter we have discussed about our journey from noticing that something might be wrong with our Octavian and the long and intense journey of getting the right diagnosis, finding the right medical center and medical team to provide Octavian the care he needs and concluded with a strong statement of acceptance and a promise to live life the fullest despite SDS.

For those who did not yet read our first chapter, we would like to start things off with a short introduction. We are a family of 4 from Romania (Eastern Europe).  Me (Raul) and my wife Claudia, we have 2 wonderful sons, Victor who is a very energetic, smart and kind 6-year-old, that just started school in Romania and Octavian our 2-year-old son – probably the cutest and happiest child I have ever seen - who is a true SDS warrior.

Octavian has a rare condition: SDS triggered by a mutation on the EFL1 gene.

Kicking of 2025, I would like to be able to tell you all that we celebrated Christmas and rang in the new year as most families do, by the Christmas tree with family and friends …

We were preparing for the holiday season, decorating the tree and getting ready for Christmas, when all the sudden Octavian developed an acute case of pneumonia. So, around December 22, we had to go to the ER…

It was quite a severe infection that despite antibiotics soon turned worse and after about 1 week he was sent to the intensive care ward and the doctors at the time were starting to discuss  about the possibilities of having to intubate him.

We are in love with our hometown in Romania (Oradea). It’s a great place to live and the perfect place to start a family, but there is one thing that is missing…. A medical team that understands and knows SDS and how to treat SDS patients.

Again, with the luck of being born in a family where both my parents are Pediatricians, my parents quickly stepped in and informed the ICU team about the protocols for treating infections in SDS.

It was the first time for Octavian to have thrombocytopenia where his counts got as low as 28000, and received two platelet transfusions that brought his counts back to 37000. After the transfusions, a cocktail of antibiotics and a lengthily stay at the hospital, Octavian was discharged in January and we were very focused on his recovery and getting back with his routine for, physical therapy, and developmental therapy.

One thing however was always on our mind – the fact that he developed thrombocytopenia…

We simply could not sleep on it, so we started emailing our medical team in Verona Italy and were scheduled for a visit and a first bone marrow biopsy in May. For this visit, we also were determined to have ourselves and our older son Victor tested to see if any of us would be compatible donors for Octavian if the need would ever present itself.

As we reached Verona, Claudia and Octavian were admitted in the hospital under Dr. Marco Cipolli’s care and Victor and me were somewhat on a father and son vacation…

The first bone marrow biopsy harvest went smooth and uneventful. It’s amazing how resilient small children are, after the anesthesia effects were gone, it was like it never happened and Octavian experienced no pain or significant discomfort after it. The doctors mentioned that it is less painful for children as the bones are not hardened as they are by adults.

Remember how we promised to live life the fullest despite SDS? After the hospital stay was concluded, we turned our Italy trip in a small vacation, discovering beautiful lake Garda and its surroundings, spending some days in the Italian Dolomites and concluding with a short visit of Graz in Austria.

There was nothing left to do but to wait for the results of the bone marrow biopsy… and well, live…

We were informed that the results would be ready in a month’s time, and in the meantime we had the chance to show Octavian the sea for the first time in his lifetime. I want to praise a bit just how resilient this little one is, as for now, we have never flown with him, choosing to go everywhere by car. Our trip from Oradea to Verona is 1160 km long (about a 11-12 hour drive), and now, we are getting ready for an even longer car trip to Greece.

Not long after our return home, we received the results from the Bone Marrow Biopsy:

“We received the final data of Octavian last week. These analyses reveal a negative prognostic value, increasing the risk of bone marrow transformation. We discussed these results also with Dr Cesaro, the Onco-Hematologist. The best choice is to review Octavian soon here for a new follow up and understand your compatibility as donors.”

So shortly, after in July, we were back in Verona with Octavian for a 2nd Bone Marrow Biopsy, this time, in the direct care of the Pediatric Oncohaematology Department of Dr. Simone Cesaro.

The second Bone Marrow Biopsy was done in an ambulatory regime, and this time, we had to wait longer for the results due to the upcoming August vacation period, so we had a good 1,5 to 2 months waiting period.

It’s never easy to just stay and wait for any results, its even harder to do this knowing that  there is a high chance for receiving bad news, but we did our best to get back in our daily routines and focused as much as possible on the upcoming happy events in our life, especially Victors 1st day of School!

Close to Victor’s first day of school we received the results from Verona:

“Octavian has a mutation responsible for transforming to acute myeloid leukemia that has increased in frequency from  6 to 16%. This is a clear indication to perform the stem cell transplant asap . waiting more means  risking the onset of leukemia and, nowadays, an acute myeloid  leukemia TP53 positive is basically incurable (probability of survival  inferior to 10%). Having a brother as a donor, we can organize the transplant in 4-5 weeks.”

With heavy hearts and a sea of uncertainty ahead of us, we have agreed to be back in Verona for starting the transplant procedures on the 14th of October, thus having the chance to celebrate Octavian’s second birthday home before staring this complex procedure.

With the suitcases packed and the booth of the car filled to the brim, we started our 3^rd trip of the year towards Verona.

As I am writing these words, today, (02.11.2025), Octavian and Claudia are at the hospital in isolation getting ready to start chemo tomorrow. Victor my oldest is still sleeping and getting ready to play his part in the coming weeks as he is scheduled to donate on the 13.11, the day when Octavian is also scheduled to receive the stem cells transplant.

A long and hard recovery is going to await us. Claudia and Octavian will stay in Verona for the coming 8-10 months for Octavian’s full recovery. Victor and me will have to go back to Romania after the transplant for Victor to continue school and afterwards I will do my best to be both in Verona and in Oradea to balance the needs of both my children and wife.

We fear what’s to come, but somehow are also extremely grateful and thankful for all the kindness and support we have received during our journey so far.

The medical staff of both Dr. Cipolli and Dr. Cesaro are amazing with us offering both care and comfort at any moment.

We are extremely grateful for the amazing support ABEO ODV Verona is offering our family in terms of accommodation and moral support during our extended stay here.

And we are thankful for my employer (Accesa.eu) for giving me the much-needed time off to focus on my family for the time being.

And none the less we are thankful for the countless and immense support of family and friends + the SDS Community that has helped us fully understand how to help Octavian.

[Written and submitted from Octavian's dad, Raul]