Frequently asked questions for families just receiving a diagnosis of dwarfism: Spondyloepiphyseal Dysplasia (SED) or Spondylometaphyseal Dysplasia (SMD) or Kniest
- How is this diagnosis made?
- Did we somehow cause this?
- Will this affect her intelligence?
- How tall will she be?
- Are there any serious medical concerns associated with this?
- Which doctor should my child see?
- Are there any precautions I need to take with my child?
As an infant?
As a toddler?
As a child? - Will it affect my child’s social life?
- What kind of career will she be able to have?
- Will my child be able to lead an independent life?
- How can I talk with other families with a similar diagnosis?
- Why won’t my doctor answer these questions?
1) How is this diagnosis made?
Some conditions are better understood than others. A geneticist can usually provide a specific diagnosis for dwarfing conditions or skeletal dysplasias. Skeletal dysplasias are a very complex group of conditions. Scientists are learning more and more about these complex diagnoses. Therefore, it is possible for an individual’s diagnosis to be modified or changed to more accurately describe the condition. However, a change in the name of the diagnosis usually does not change an individual’s prognosis (what is expected to happen with the condition).
Some forms of SMD-K, SEDC, and Kniest have genetic tests. SEDC, SMD-K, and Kniest are diagnosed with X-rays and clinical symptoms and sometimes confirmed with genetic diagnosis. Please see the clinical summaries page for more information about symptoms of different conditions.
Just as sisters and brothers look different, people wit the same diagnosis can look very different. People with SEDC can be very short, or shorter than average. Every case is different. People with the same kind of dwarfism can look quite different and have different physical symptoms.
A helpful introduction to dwarfism for new parents: http://kidshealth.org/parent/medical/bones/dwarfism.html
2) Did we somehow cause this?
No. Genetic changes or mutations happen randomly. Nothing you did contributed in any way to this condition.
3) Will this affect her intelligence?
Intelligence is not affected. People born with SED, SMD, and Kniest usually have normal intelligence.
4) How tall will she be?
It is hard to tell how tall your child will be.
- Someone with SMD-Kozlowski is usually between 4 and 5 feet, with average sized arms and legs and a short trunk.
- People with SEDC range from 3 to 5 1/2 feet.
- People with Kniest are generally shorter than those with SED.
There is a lot of variation among people with the same diagnosis. Growth hormones are not likely to add much height to either of these conditions, as the levels of growth hormones are normal and cells are reacting to them appropriately.
5) Are there any serious medical concerns associated with a diagnosis of a skeletal dysplasia?
There may be. It is important to learn as much as possible about the condition and establish a good relationship with your family physician and a skeletal dysplasia clinic. Some potential complications, such as retinal detachment and back problems, can be prevented if caught in time. Please see the detailed medical write-ups we have on the SED and SMD and Kniest family of conditions and what potential complications to be aware of.
6) Which doctor should my child see?
Your child’s primary care physician needs to be in touch with someone who specializes in skeletal dysplasias dwarfism). If a medical provider claims to have seen many cases like yours, ask how many. These conditions are very rare. It is vital to contact a well-known skeletal dysplasia center for guidance and direction in your child’s care. A little bit of knowledge can be very dangerous. You can contact Little People of America (LPA),http://www.lpaonline.org or see the skeletal dysplasia clinic list to set up an appointment at a skeletal dysplasia clinic where you will be seen by medical professionals are very experienced with skeletal dysplasias. Insurance companies frequently pay for such out-of-plan visits to these clinics since SED and SMD and Kniest are rare conditions.
You may need to make some very important medical decisions with your doctor and so it is vital you are well informed about potential complications and treatments.
Free medical appointments with specialists are available at Little People of America Conferences.
7) General medical precautions to take if your child is a dwarf:
- Get copies of all medical records, including X-rays and MRI scans. Some hospitals destroy X-rays after a few years, so it is a good idea to get copies as you go along. Visit the advocacy page for more information on health care.
- Under HIPAA you have a right to view your child’s medical records. Do this often, ask question. You are paying for both health care and health care records. You should not rely on your health care proiders to track your medical records for you.
- Learn as much as possible about your child’s condition.
- See the medical vocabulary page for medical terms. Ask about words doctors use that you do not understand.
- Although some motor skills may be delayed, intelligence is normal. Most children will catch up with their motor skills.
- Avoid excess X-rays and invasive procedures that are not medically necessary.
- It is hard to keep a child from being active, but try and get your child to do less dangerous activities. For example, bike riding is fine, but off road mountain biking should be discouraged. Jumping on trampolines is dangerous for all users and should not be done by people with Spondyloepiphyseal Dysplasia or Spondylometaphyseal Dysplasia or Kniest dysplasia.
- Discuss with your child’s orthopedist or neurologist what kinds of activities are safest for your child. The exercises page lists lower-impact activities.
- For some people of short stature, epidurals may not be advised because the space between the vertebrae is generally much tighter than in averaged-sized people. Also, complications from curved spines can make the usual markers for nerves harder to find.
- Due to potential neck complications, the neck should be carefully supported during all anesthesia procedures. Neck stability and lung capacity should be evaluated by experienced medical providers BEFORE anesthesia is performed.
- Doses of all medication should be based on WEIGHT, not height or age. People with disproportionate dwarfism do not fit in any height and weight charts designed for average-statured people.
- Please see the Exercise and Alternative Therapies pages for more proactive steps to take.
More specific precautions for:
As an infant who has a skeletal dysplasia?
- Make sure the infant gets good head support. Stiff backed strollers and carriers are preferred.
- Take special note of posture and the development of a curved spine.
- Remember that although some motor skills may be delayed, intelligence is normal. Most children will catch up with their motor skills.
- Pay attention to how well your child sleeps. Sometimes sleep studies may be called for to check for sleep apnea. Loud snoring or your baby’s pausing between breaths is something to bring to the attention of your child’s medical provider.
- Try to avoid excessive X-rays and invasive procedures that are not medically necessary. Note that an MRI will involve intubating (putting a tube down the baby’s throat) and anesthetizing the infant. This is not a risk-free procedure and should be done only if there is an urgent medical issue, requiring information that cannot be acquired any other way.
- Read the article “Handling a Newborn with Achondroplasia”. While achondroplasia is a different form of dwarfism, there is some overlap in special precautions for newborns.
- Read the article Your Child from Birth to age 36 Months about government services available to children with SED. A practical and down-to-earth article written by the parent of a child with SED.
- Visit the pain management page if your child is in pain.
- Go to the KSG Advocacy Center for help with medical care, getting funds for travel to medical appointments, legal issues, and school and scholarship resources.
- Want to add tips of you own? Contact us!
As a toddler who has a skeletal dysplasia?
- Take special note of posture and the development of a curved spine.
- Although some motor skills may be delayed, intelligence is normal. Most children will catch up with their motor skills.
- Take note of hip development. Coxa Vara (hips facing inward, toward the body) frequently develops during the toddler years.
- Discuss with your child’s orthopedist or neurologist what kinds of activities are safest for your child.
- Swimming is an important exercise for children with a skeletal dysplasia.
- Make sure your child wears solid shoes with a wide toe box.
- Read the article Your Child from Birth to age 36 Months about government services available to children with SED. A practical and down-to-earth article written by the parent of a child with SED.
- Visit the pain management page if your child is in pain.
- Go to the KSG Advocacy Center for help with medical care, getting funds for travel to medical appointments, legal issues, and school and scholarship resources.
- Want to add tips of you own? Contact us! Your comments are important to us.
As a child who has a skeletal dysplasia?
- Take special note of posture and the development of a curved spine.
- Allow your child to try things out and find his or her own limits.
- Encourage your child to swim, bike, do water aerobics, and be as fit as possible.
- Although some motor skills may be delayed, intelligence is normal. Most children will catch up with their motor skills.
- Discuss with your child’s orthopedist or neurologist what kinds of activities are safest for your child.
- Make sure your child eats a healthy diet. Extra weight can exacerbate joint problems.
Do not use standard height and weight charts. For example, people with Spondylometaphyseal Dysplasia Type Koslowzki (SMD-K) have proportionally longer limbs and can be a good deal heavier than a dietician suggests and not be overweight. The standard height and weight charts simply do not apply.
A lean person with SMD-K can appear severely overweight and even obese using height and weight charts calculated for average statured people. The psychological damage that can result when a medical provider labels a perfectly fit child overweight can contribute to an eating disorder. This is an area where medical providers, including those at skeletal dysplasia clinics, may need to be educated. Use common sense to determine if you child needs to lose weight.
- Visit the pain management page if your child is in pain.
- Go to the KSG Advocacy Center for help with medical care, getting funds for travel to medical appointments, legal issues, and school and scholarship resources.
- Want to add tips of you own? Contact us!
8) Will it affect my child’s social life?
Any person with a difference runs the risk of being teased. Being shorter than average has its advantages, such as the fact that people recognize and remember you. Short-statured people have satisfying careers and live long and productive lives. There are many after school activities that children with SED or SMD or Kniest can and should participate in such as managing a sports team, editing a paper, being on a swim team, and running for student government.
For information on supporting your child in social situations seehttp://www.shortsupport.org/. Also see Question 10 and the Family Stories section for potential social aspects concerning living with a skeletal dysplasia.
For information about preventing bullying, visit the KSG Anti-Bullying page.
9) What kind of career will she be able to have?
Almost any career she wants. Being a professional athlete is probably not likely, but all others are possible. Dwarfs work as doctors, lawyers, entertainers, politicians, teachers, psychologists, statisticians and many, many more occupations. For more on this topic, please see Fred’s list, http://www.lpaonline.org/library_fredslist.html
10) Will my child be able to lead an independent life?
Yes. If your child has physical problems (either related or not related to dwarfism) there are many resources and advocates to help. They work with parents, medical providers, and school systems.
- http://www.disabilityinfo.gov is a comprehensive Federal website of disability-related government resources.
- Another helpful US Government page: http://www.govbenefits.gov/. This is a free, easy-to-use, and completely confidential page to match people to programs they are eligible for.
- Visit the Advocacy Center for tips on employment, help with schooling, legal issues, and other resources.
- http://www.ahead.org/index.html is an international, multicultural organization of professionals committed to full participation in higher education for persons with disabilities.
- The National Early Childhood Technical Assistance System, http://www.nectas.unc.edu/, connecting people and knowledge.
- Information about your local Technical Assistance/ Parent Training and Information Center can be found athttp://www.fape.org/main/ptis.htm
- http://www.ican.com/ is a comprehensive site on the disability community. The site includes employment, mobility, and social issues.
- Parent Advocacy Coalition for Educational Rights (PACER) http://www.pacer.org/
- The National Information Center for Children and Youth with Disabilitieshttp://www.nichcy.org/
- http://www.fcsn.org/ptis/ptilist.htm has information about the state and federal regulations concerning kids with “special needs” including in school and other things like health care. Resources are listed by state.
- The Children of Difference Foundation: http://www.childrenofdifference.org/index.php
- Many parents have recommended this article http://www.nas.com/downsyn/holland.html though it is not about SED, SMD, and Kniest the feelings about receiving an unexpected diagnosis can be similar. This site also contains links to parent matching networks. (note: this article is about Downs Syndrome. As stated above, SED, SMD, and Kniest does not affect intelligence.)
- Listserves and on-line forums where you can meet other families with experience with dwarfism. You can get very valuable information very quickly on-line!
- The KSG Advocacy Center has many more resources for independent living including information about health care, health advocacy, employment information, and scholarships for people with short Kniest, SED, and SMD and physical disabilities.
- Please contact us if you can’t find what you need or just want someone to talk to.
11) How can I talk with other families with a similar diagnosis?
- KSG has parent contacts. See the Talk with Other Families section of the Do Your Own Research page.
- Call the Little People of America National Headquarters Administrator for Little People of America at 1-888-LPA-2001 or email lpadatabase@juno.com. (last Checked November 2004)
- Sometimes skeletal dysplasia clinics will also match up new parents with families who have experience with the diagnosis, but you have to ask.
- Find out about camps for children with dwarfism and conferences for families.
12) Why won’t my doctor answer these questions?
If your medical provider can answer some of these questions, great!
However, many medical providers have not treated someone with a skeletal dysplasia before and simply do not know. In addition, for insurance reasons (concerns that they will spend too much money on one patient), they may be not want to give out information regarding potential treatment. On the other hand, they may be reluctant to miss anything. Rather than risk being liable for a complication they missed, they list every possible one. Even though most of the potential complications do not occur, it can be completely overwhelming and inappropriate for a new parent to receive information this way.
A good physician will give you all the information s/he knows and involve you, as a parent, as part of the decision making process. You should ask for the best case scenario and the worst case scenario. You and your medical team should be prepared for those cases, and everything in between.
Visit the KSG Advocacy Center for more information on getting the most from doctor visits.
See medical dictionary page for examplanations of medical terms.
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