Russell-Silver Syndrome Support

ROAN

Roan

My husband and I have two children. We live in the Netherlands. My oldest is a girl called Noa and she’s 3.5 years old. My youngest is a boy, Roan. Roan has RSS.

At 18 weeks of pregnancy, Roan continued to be behind in growth. He was about 3 weeks delayed. The doctors had no idea why because my Doppler
test stayed very good and they couldn’t see any abnormalities through ultrasound. We had amniocentesis, but results were positive. So they surmised placenta insufficiency.

I was ordered to go on full bed rest and the gynaecologist came to my home every day to monitor the fetal heart rate and uterine contractions. Once a week we had to go to the hospital for ultrasounds and dopplers.

In an emergency c-section, Roan was born at 37.1 weeks. His weight was 3.7 lbs and a height of 15.7 inch.

Roan did great. He had a tube for 3 weeks, but tried to drink from a bottle, too. His apgar was 9/10 so really good. We were prepared and expecting him to go to the NICU, but he immediately went to the main pediatrics floor. He had some external characteristics, but the clinical geneticist thought it could be the small gestational age. “Come back in a year,” he said!

After a week he was released to a hospital in our home town where someone noticed a difference between his feet. He was growing asymmetrical.

During my bed rest from the c-section, the only thing I did was search the internet for SGA and IUGR and I remembered there was something I read about asymmetrical growth, so I searched again and found RSS. All fell into place: his features, the sweating, etc. I made copies of the articles and gave them to a nurse. The next day our paediatrician came and confirmed the idea of RSS.

The clinical doctor made the diagnosis two weeks later. Roan has RSS. No need for blood test, as he has so many of the symptoms, there was no room for doubt. Eventually we will do a blood test, but now he needs to grow first.

Roan is 9 months old now and doing reasonable well. He can drink his
formula thanks to a bottle with special nipple (habermann). Everyone is on top of him. Our paediatrician is very willing to learn and is open to different viewpoints. We have email contact between our appointments, so that’s nice and handy. We have physiotherapy at home from the age of 6 weeks. We have a speech therapist and a dietician. He is still way under the growth line of RSS, despite of proper nutrition, probably because of malabsorption in his intestines. Up to a couple of weeks ago he actually drank more than the amount necessary. He drinks thickened Neocate formula now with extra energy and fat-additions. Unfortunately he drinks less and less on this formula, but we are still searching for the right balance. We are slowly introducing solids with help of a speech therapist and a dietician (for his cow milk-allergy). That goes well.

Last month test results showed that he has reflux. It is now reasonably under control, with his medicines. He also takes medicine for his constipation and bowel problems.
He has some difficulties moving because of his large head and low muscle tone. He is not able to keep his head balanced for long, but we are getting there. He is now able to roll on his belly and roll back.

He is easily tired and prefers to spend his time nice and easy at home in a tight routine. A visit to the grocery store is actually a challenge; he doesn’t cope very well with different stimuli. Because of his oral problems, we are expecting him to have difficulties with speaking. We have started to use a form of sign language for babies, to make sure that he is able to communicate in time. You might think that is running ahead, but if he is able to communicate by talking, we feel that it is only an added value. We are all learning together and his sister is becoming very good at it!

At this time he is 8,8 lbs and his height is 22,4 inches. Roan is a very cheerful boy, always smiling. He is a real fighter. Although living with RSS can be very hard at times, Roan makes it all worth while. He enriches our life in a way we could not imagine. As a family we have grown and become stronger, as well as individuals. We are proud and lucky to be parents of such a beautiful couple of kids. Hopefully they will both feel that too.

The remarks out of the society are sometimes very hard to deal with, but we try to keep in mind that they just don´t know any better. We keep explaining, because this is the society Roan will grow up in. What people don´t know, they are scared of, so hopefully by talking about it a lot there will be more understanding.

Roan´s moeder (Saskia)