Q&A about Weaver

In this section, you'll find some questions about Rumeysa asked by people mostly the families of Weaver's Syndromials.

In 2006;

Height. Rumeysa has now stopped growing. Was there medical intervention to bring on puberty early? Do you know if her height is higher than average for girls with Weaver's?

Yes, she had an EXPERIMENTAL medical cure under observation. She is above average. She is one of the cases that grew fastest. First of all, doctors waited for her to grow up until 1.76m to avoid unproportional body. She was cured with oestrogen (premarin 1.25 mg) 2x3, sandostatin LAR 10 mg flacon (once per month).
Teeth. Has she had any dental problems? (My daughter has had four teeth out already - her tooth enamel is very weak)

Yes, it is the same as Rumeysa's.
Behaviour. Was she difficult as a child? Did she have tendency to aggressive tantrums? If so, did this improve with time? (My daugther is very loving and caring but also unpredictable and she can be very violent at times)

When she was a child like Liza, her behaviors were normal, perhaps calmer than an average child. Now, she's a little aggressive by the effect of puberty and her understanding of her own condition.
Mental abilities. It seems that Rumeysa's mental ability is now more or less normal - that is good to hear. Was she slower to speak than other children?

Yes, she speech and perception were delayed in the beginning, but the development was fast, so her mental abilities are normal, probabily above average than a normal child now. The important thing is that she had intensive care at that age.

In 2005;

How tall was Rumeysa when she was 4 1/2 years old ? At what age did most of her growth take place?

She was 4'9" (145cm) whe she was 4. She continuously kept growing until last year up to 5'8" (172cm). There is no specific time interval for her excessive growth, growth rate was almost same during that period.
Have you noticed whether Rumeysa has a lack of muscle tone or mass? It seems that when I touch my grandson's skin that I am touching bones and that there is not really any muscle tone.

Yes, she a lack of muscle tone and her muscles are weak, especially legs.
What are some of the long term effects of people with Weaver syndrome?

In the Weaver Syndrome since the growth is rapid and muscle development is not accommodated with the growth, standing and walking becomes difficult in long terms. Furthermore, there may be problems with blood circulation.
What is the likely outcome of a course of physical therapy or your experiences with physical therapy?

Physical therapy improves the development of muscles with 100%. When we gave a break with physical therapy, the muscles got loosen a lot. At the age of 5, Rumeysa stayed in a hospital and she was able to walk after a 5 months full-day physical therapy given in the hospital. Before that, home Physical Therapy was suggested, but it did not help much. At the age of 6, she was able to walk with crutches after a 4 months full-day therapy in the hospital. At that time, the experimental cures such as increasing the hormones (to shorten the time for puberty) disrupted the synchronization between the muscle and growth rate again. Currently, she has been given physical therapy at home by a physiotherapist. She can endure short walks with a walker. In short, a person with Weaver Syndrome has to have long-term intensive physical therapy. Now, Rumeysa is 9 years old and 2.03m tall.
What is the most effective management for this syndrome, such as, are there programs that address kids who are suffering from this syndrome or adult who have this syndrome and living independently?

We haven't heard anything about it yet, please inform us when you have that kind of information.
What are some of the home care regimen should be recommended, especially for increasing the development of someone with Weaver syndrome?

The things should be done at home: The parents should be informed about nourishing the kid with Weaver syndrome. Especially immediately after birth, lack of vitamin D, hipocalcemia, anemia has to be supported by medicines. Physical therapy always has to be. Another thing is, the people with Weaver syndrome have difficulties to communicate with their environment; they have to be trained on it.