Just Diagnosed with Tetrasomy 18p
Receiving a diagnosis of Tetrasomy 18p can be a very difficult and confusing experience. Although it may explain why a child has medical problems or developmental delays, it also brings a lot of new questions. The good news is that we know a lot about Tetrasomy 18p, and we are continuing to learn more through the ongoing research at the Chromosome 18 Clinical Research Center.
On this page, we are going to review the most common questions parents have when their child is first diagnosed with Tetrasomy 18p.
What is Tetrasomy 18p?
Tetrasomy 18p occurs when there is an extra chromosome composed of two copies of the short arm of chromosome 18. This means there are four copies of 18p instead of the two we expect to see.
What problems are associated Tetrasomy 18p?
Tetrasomy 18p can cause several different kinds of birth defects. Some children with Tetrasomy 18p are born with a cleft palate, a heart defect, spina bifida, or foot abnormalities. Babies with Tetrasomy 18p might have some problems in the newborn period, such as feeding difficulties, jaundice, and respiratory difficulties In particular, people with Tetrasomy 18p frequently have low muscle tone. As they get older, they may develop other health problems, such as recurring ear infections, severe constipation, and scoliosis or kyphosis. There have been a handful of people with Tetrasomy 18p that have growth hormone deficiency. Other health concerns may include vision problems, mild hearing loss, foot problems, and neurological issues, such as seizures, may develop. There are other concerns that have been reported in people with Tetrasomy 18p, but these are the most common.
There is a great deal of variability among people with Tetrasomy 18p. At this point in time, it is impossible to predict exactly how it will affect an individual.
Are there any concerns for development in people with Tetrasomy 18p?
Most children with Tetrasomy 18p have developmental delays. This means that they do not meet their milestones on time, but they do achieve them. For example, they may roll over, walk, and talk later than other children. Many people with Tetrasomy 18p will have some intellectual or learning disability. This means they will have more difficulty than average learning new skills. The degree of intellectual disability varies greatly.
What can I expect for my child with Tetrasomy 18p?
It is difficult to predict how an individual will be affected by Tetrasomy 18p. However, we know that children with Tetrasomy 18p go to school, develop new skills, make friends, and are active members of their communities. As adults, some individuals with Tetrasomy 18p- have part time employment but all live in a supervised environment.
What should I do for my child with Tetrasomy 18p?
Every child with Tetrasomy 18p is different. However, we can make some recommendations for evaluations to ensure that the most common concerns are identified and addressed early.
Immediate Referrals to:
- Early Intervention
One Time Evaluations:
- Renal ultrasound
- Digestion due to concerns for reflux and eosinophilic esophagitis
- Allergy/autoimmune symptoms
- Changes in neurological status
- Behavioral/mood concerns
What research is being done?
The Chromosome 18 Clinical Research Center is dedicated to fully understanding the chromosome 18 conditions as well as to developing treatments for these conditions. For additional information or to enroll in the study, please visit their website.
Where can I go for more support and information?
The Chromosome 18 Registry & Research Society is dedicated to making chromosome 18 conditions the first treatable chromosome abnormalities. We count within our membership thousands of parents, siblings, extended family and friends, businesses, and affected individuals. Registry membership is open to any interested person.
We invest in both people and science; supporting our members through education and a sense of community while also focusing squarely on impactful clinical research that will lead to healthier, happier, and more independent lives for those affected and their families.
There is a great deal of additional information on our website, as well as the opportunity to connect with other parents. To become a member, please go to our home page and click the “become a member” button.