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Octavian's SDS Story: A Rare Gem with EFL1

"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.

At the beginning of 2023 we found out with great joy that we will be expecting our second child and we could not be happier knowing that our family will grow.

The pregnancy was monitored carefully each trimester and for the first two, it seemed to be all ok, the baby was growing as expected, everything was within normal parameters. That was until one of our check-ups during the 3rd trimester, where after an ultrasound examination, the doctors informed us that it seems that the baby's limbs are not growing in accordance with his gestational age and the doctors were starting to suspect a possible genetic condition (achondroplasia).

Of course, we were devastated to even consider that our yet unborn baby boy could be in any way sick, and went through all the possible stages - crying, denial, anger, - you name it... Regardless, there was nothing we could do but wait and see...

Finally, October arrived and Octavian was born at the maternity hospital in our city in Romania. His APGAR score was 9, as for the first hours outside the womb, he had some breathing related issues, but thank God, afterwards his breathing got better and did not need to undergo any more oxygen therapy. He was quite small, 46 cm and 2.6 kg but was from the start, very very beautiful.

The genetics department from the maternity hospital suggested we should test him for achondroplasia, but as my parents are pediatricians, they both suggested that it makes no sense, because from their experience it was clearly not the case of achondroplasia. They were the ones that encouraged us to go for the Whole Exome Testing and did so in November.

For the first 3 months, Octavian was doing quite well, he was eating well (breastfed + extra formula) and was gaining steadily weight at a normal rate. We were very proud of our little man because even when he had the misfortune of contracting pneumonia from his older brother, he still did not lose weight, and was still eating with pleasure.

Close to Christmas time, he started eating smaller and smaller portions, and showing signs of abdominal distress, so we tried to switch to any possible formula for the coming period and giving him any possible supplements to help with digestion. Now we entered the stage where he simply stopped gaining weight and was somehow blocked at 3.9 kg for almost 2 months...

In the meantime, we got the results back from the Whole Exome Genetic Testing and we celebrated because it clearly stated he has NO achondroplasia. For about 2-3 days we just couldn’t realize that there was something else highlighted in the results:

  • The patient is heterozygous for EFL1 [...], which is a variant of uncertain significance (VUS).

  • The patient is heterozygous for EFL1 [...], which is a variant of uncertain significance (VUS).

Biallelic pathogenic variants in EFL1 have been associated with Shwachman-Diamond syndrome 2 (SDS; MIM #617941; GeneReviews NBK1756), an autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.

At some point, again my parents suggested to test his elastase levels from his stool and we got back two consecutive results for exocrine pancreatic insufficiency….Now it started to become clear to us that it could be the case that our son has SDS….It came as a shock to us to find out that at our centers for Cystic Fibrosis, the doctors have never seen SDS…We felt pretty much on our own, until one day we went online and found the SDS support group and got in touch with multiple people and patients and were all of the sudden surrounded by information and encouragement from the group.

Eszter Hars of the SDS Alliance was one of the people that helped us the most from the community, she helped us get in contact with specialist in Europe that have experience with SDS and in April we were lucky to be accepted for a visit at Dr. Cipolli Marco in Verona Italy. We were happy to be in the hands of specialists that know how to handle Octavian’s condition.

A holistic approach of his condition was undertaken in Verona and after careful evaluation, Octavian was confirmed clinically with SDS

[Editorial comment: due to the mutations being classified as VUS, the patient received his diagnosis by an SDS expert based on clinical (symptom) findings, which is known as a clinical diagnosis as opposed to genetic confirmation. About 10% of SDS patients are diagnosed clinically].

This condition was classified as being mild, showing skeletal abnormalities in the form of a narrow chest and pancreatic insufficiency. His bloodwork is ok, showing no signs of neutropenia or anemia.

We came back to Romania with a plan and clear indications on how to administer enzymes to help him digest food and we have scheduled a follow up visit in the coming year.

Octavian is now 8 months old. He is still small for his age and is still struggling to reach the milestones that most kids reach by the age of 8 months because of his hypotonia. He is now 60cm tall and weighing 4.6 kg.

Despite his condition he is a very happy little man. He smiles all the time, he is very happy to spend time with his older brother and is musically inclined – his face lights up when we put music on. 

We have come a long way in just 8 months, 8 months ago we never heard of SDS and never even considered the chance of our child to suffer from a rare disease… We learned in this short period that we are strong together, and that there is a community that we can rely on when in need.

We went from being completely lost, to having a plan, and for the first time in our SDS journey I think we have reached as a family the stage of acceptance and trying to live life the fullest despite SDS.

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


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