In the final months of 2018, medical geneticist Dr Silvia Shelby from the Romanian National Clinical Centre for Children’s Neurorecovery, Dr. Nicolae Robanescu Hospital, was contacted by a paediatric neurologist about an unusual case: a 10-year-old girl with a particular type of walking, short stature, microcephaly, severe intellectual disability, and unusual facial features. She had undergone genetic tests since she was a baby, but her condition had remained unknown.
“Upon seeing her, I suspected Seckel syndrome. The girl’s phenotype fits the criteria for being tested free of charge through a programme run by one of my colleagues in Romania. A few months later I received a phone call telling me that they had diagnosed our patient with a rare syndrome affecting only five other patients in the entire world”, Dr Shelby explains.
In search of the right diagnostic partner
With the family’s blessing, she and her colleague decided to publish the case in the medical journal Genes to increase awareness for this extremely rare condition.
But they faced a challenge in confirming the diagnosis with another method, Fluorescence in situ hybridisation (FISH): “It needed to be done fast, in only five days. Finding a partner turned out to be nigh impossible: labs told us that they couldn’t do it, they did not have the kits, they did not do FISH, the deletion was too long, and so forth. We were losing hope.”
After contacting many laboratories and only receiving negative answers, Dr Shelby decided to reach out to SYNLAB Romania. Calling a number she found on the internet, a very helpful person told her that the problem would be taken to “Doamna Doctor” (Mrs. Doctor).
“I was asked to send an email with the region and length of the deletion and very soon I heard back from “Doamna Doctor”, Dr Sandra Stoica, to whom I will always be grateful for her prompt, amazing and great help. I couldn’t believe it when Dr Stoica told me that SYNLAB would help, putting me in contact with Dr Michael Morris, the Director of the Genetics Department at SYNLAB Switzerland.”
Within weeks, our geneticists established a personalised test for the patient to confirm the diagnosis and to test her parents, to evaluate whether the condition could be passed on to other children in the family.
“The helpful and kind Dr Morris read our article line by line, offered us valuable insights to improve the text, and helped us to confirm the diagnosis in only a week using MLPA. Working with the SYNLAB Genetics Department is the dream of any medical geneticist – great communication, a lot of kindness, very fast and accurate results. The confirmed diagnosis has also brought certainty to the family: it is now easier for them to approach and manage their daughter’s disease”, Dr Shelby says.
Confirmed diagnosis, bridging families across continents
After 10 years of not knowing what caused the condition, the diagnostic odyssey was over: the family was at last able to put a name to the diagnosis. Dr Shelby emphasises that thanks to genetic investigations, rare diseases won’t be so rare anymore. Published papers can help cases to be recognised and diagnosed faster and to connect patients with rare diseases across the world, even from different continents.
“It happened to us, too. A few months after we published the article, I was very surprised to receive an email from a mother in the U.S. whose daughter had been diagnosed with the exact same deletion – becoming the 7th patient in the world that we know of! The mother asked me to put her in contact with the mother of our patient, and they have corresponded. I feel that this newfound connection could help both families to cope and feel understood, given the rarity of the children’s syndrome. And our patient’s family has some great news to share as well – she now has a perfectly healthy 2-month-old sister!”
Rare Disease – Partner for Life
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