| Vol1:Issue1 |
December 5, 2003 |
Our First Issue!
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My child has PKS, now what? **
If you are reading this newsletter, you have asked yourself this question. After you asked it, you have a million more to follow: What can I expect? Where do I go for help? Who else has this syndrome? What can be done to help my child?
Your first source of information is your child’s pediatrician. When searching for a pediatrician, be sure to ask their experience with special needs kids. This is crucial as PKS is so rare, you will be very fortunate to find a doctor that has actually treated a PKS child. Be aware, however, that the medical information listed in most medical libraries is quite outdated. Since finding other families dealing with PKS, we have found the initial information to be misleading and have found hope and support from others dealing with this syndrome.
Once you have established a relationship with a pediatrician, you next step should be to contact the Early Intervention Program in your area. Depending on where you live in the world, your child could be eligible for many types of therapy services, respite services and many other types of therapy/services. This step is crucial. There is no cure for PKS at this point. The best defense you have is early intervention.
Your next quest should be for knowledge. Get to know the syndrome inside and out. You don’t have to become a geneticist, but getting a good idea of what the syndrome is and how it affects your child will help you to get the best possible care for your child. There are many online resources as well as the traditional ones mentioned before now. It would also be a good idea to become a member of any support groups you feel would be beneficial to you and your circumstances. You can go to any online search engine and type in ‘special needs’ and get a very good listing of groups.
These are just beginning steps in the journey to caring and raising your child. If I could only give you one piece of advice it would be this: your child is just that – you child; no one knows them better than you. No matter how many letters a person has after their name, it all comes down to you being the parent and being with your child 24 hours a day, 7 days a week.
Good luck to you and know that we are here for you no matter what and will do whatever we can to answer your questions. -- Pamela Fuller
** We tried to keep the information as worldly viable as possible. If you have information to share on this, please feel free to email us at: pks@50g.com |
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Polls Created at the Online GroupOne of our sources of information comes from the Polls that are created PKS Support. At the bottom of this newsletter is the compiled information of those polls. They are still open due to new members requesting membership in the group. We are looking to send out new compilations of these polls every quarter. They contain information from the number of kids that make a snorting sound to what types of muscle tone a child has. We hope you find this information useful and uplifting. |
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Around the Globe:Spotlight: Scotland
Schools - There is a special needs day nursery for the very young (about 18 months). When they turn 3 years old, they can either get into mainstream nursery (depending on the severity of the disability) or they can go to a special needs nursery . At school age, its the same depending on severity - they can go to a mainstream or a special needs school.
The benefits system - For children with disabilities there are two benefits that can be applied for: the care allowance and the mobility allowance. The mobility allowance can be exchanged for a car or electric wheelchair. The mobility allowance is through the social security service (family income is not taken into account).
Parents looking after a disabled child may also get a benefit its the carers allowance (this depends on the family income).
Family Trust Fund - can be applied for once a year, you can get anything from clothes to a washing machine (this fund depends on your family income). |
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cont'd| Vol1:Issue1 |
December 5, 2003 |
Around the Globe:Spotlight: Scotland
Medical bills and medication - paid for by the health service, even if your child has no disability.
Nappies - A disabled child over 3 years can also get free nappies(diapers), this is through your health visitor. Respite care - is harder to get in the UK, the waiting lists are very long. Each person is looked at in a different way, again it depends on severity. |
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8 Helpful Links
Andrea Colasanti’s site
Online support group at Yahoo http://groups.yahoo.com/group/pks_support/
Chromosome Deletion Outreach http://www.chromodisorder.org/
UNIQUE
Our Kids
For Parents and Caregivers of Children with Special Needs http://www.specialchild.com/index.html
PKS Information http://computerwhizzltd.tripod.com/dox/pks1987.htm
Dr. Lilli Nielsen, “The Little Room” creator http://www.lilliworks.com/about_dr__lilli_nielsen.htm
The Disability Equip Register for UK http://dspace.dial.pipex.com/town/square/ae208/
Web Sites of real PKS kids:
http://www.leona-ev.de/berichte/kerstin.html
http://www.pk-syndrome.org/Phil.htm
http://www.pk-syndrome.org/cases.htm
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Your present circumstances don’t determine where you can go; they merely determine where you start. - Nido Qubein |
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Say hello to Filippo (Phil)! Phil was born in September of 1996. He lives in Italy. He was in the Neonatal Intensive Care nursery for 4 weeks, had low muscle tone at birth, sparse scalp hair, a high forehead, a wide space between the eyes, a broad nasal bridge and hypopigmentation. Phil was diagnosed at 20 months. He began crawling at 12 months, walking at age 2. His progress has been steady with the determination and guidance of his parents and the right therapies. Now he goes to mainstream school, he can run, bike, swim and play as other kids. His open issue is still the verbal communication, mainly due to the intrinsic PKS features (general retardation, prominent mandible, large and protruding tongue, hearing loss). You can read all of his story at: http://www.pk-syndrome.org/Phil.htm
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The following information is from polls that were created on the PKS Support Group that is hosted on Yahoo. To become a member, send an email to pks_support@yahoogroups.com
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Question |
Responses |
Number |
Percentage |
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Pregnancy Term: |
1-2 MONTHS |
0 |
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2-3 MONTHS |
0 |
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3-4 MONTHS |
0 |
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4-5 MONTHS |
0 |
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6-7 MONTHS |
1 |
6.67% |
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7-8 MONTHS |
4 |
26.67% |
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8-9 MONTHS |
4 |
26.67% |
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FULL TERM |
6 |
40% |
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"snap" or "crack" their fingers, toes etc. |
Fingers |
2 |
20% |
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Toes |
2 |
20% |
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Knees |
3 |
30% |
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Wrists |
3 |
30% |
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If applicable, what age did your child have a transfusion? |
0-12 months |
1 |
100% |
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12-24 months |
0 |
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2-3 years |
0 |
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3-4 years |
0 |
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4-5 years |
0 |
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5-6 years |
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6-12 years |
0 |
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If yes to a transfusion, what type? |
Platelet |
1 |
25% |
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Plasma |
2 |
50% |
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Bone marrow |
0 |
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Other |
1 |
25% |
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Age when diagnosed |
0-6 months |
8 |
36.36% |
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7-12 months |
2 |
9.09% |
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1-2 years |
7 |
31.82% |
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2-3 years |
1 |
4.55% |
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3-4 years |
3 |
13.64% |
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4-5 years |
0 |
0 |
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5-6 years |
1 |
4.55% |
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6-7 years |
0 |
0 |
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7-8 years |
0 |
0 |
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8-9 years |
0 |
0 |
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9-10 years |
0 |
0 |
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10-11 years |
0 |
0 |
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11-12 years |
0 |
0 |
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Older than 12 years |
0 |
0 |
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Age first steps taken |
0-6 |
0 |
0 |
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6-12 |
0 |
0 |
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12-18 |
1 |
6.67% |
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18-24 |
1 |
6.67% |
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2-3 |
2 |
13.33% |
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3-4 |
1 |
6.67% |
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4-5 |
0 |
0 |
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6-7 |
0 |
0 |
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7-8 |
1 |
6.67% |
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8-9 |
0 |
0 |
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9-10 |
0 |
0 |
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Doesn’t walk |
9 |
60% |
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Has contractures |
0 |
0 |
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Hearing Loss? |
Yes, substantial |
7 |
43.75% |
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Yes, mild |
5 |
31.25% |
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No |
3 |
18.75% |
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Not diagnosed yet |
1 |
6.25% |
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Seizures? |
Yes |
11 |
57.89% |
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No |
8 |
42.11% |
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Muscle tone? |
Hypotonia, low muscle tone |
13 |
81.25% |
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Hypertonia, high muscle tone |
1 |
6.25% |
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Normal |
2 |
12.5% |
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Vision affected? |
Strabimisus |
5 |
20.85% |
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Blepharoptosis |
0 |
0 |
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Hypertelorism |
1 |
4.17% |
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Glaucoma |
0 |
0 |
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Cateracts |
0 |
0 |
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Not affected in any way |
0 |
0 |
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Affected but not listed here |
7 |
29.17% |
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Are glasses needed? |
Yes |
4 |
36.36% |
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No |
7 |
63.64% |
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Gender? |
Male |
7 |
43.75% |
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Female |
9 |
56.25% |
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Extra Fingers or Toes? |
No |
14 |
93.33% |
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Yes, fingers and toes |
1 |
6.67% |
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Yes finger |
0 |
0 |
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Yes toe |
0 |
0 |
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Age when first talked? |
1-2 years |
1 |
7.14% |
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2-3 years |
2 |
14.29% |
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3-4 years |
0 |
0 |
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4-5 years |
0 |
0 |
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5-6 years |
0 |
0 |
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6-7 years |
0 |
0 |
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7-8 years |
0 |
0 |
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9-10 years |
0 |
0 |
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Does not talk yet |
11 |
78.57% |
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How do they communicate? |
Sign language |
2 |
11.11% |
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Oral/talk |
2 |
11.11% |
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Jesturing/pointing |
2 |
11.11% |
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Communication board |
0 |
0 |
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Pictures/cards |
0 |
0 |
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Crys/sounds |
12 |
66.67% |
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Condition of palate? |
Submucosal cleft, rear region |
2 |
20% |
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Cleft lip |
0 |
0 |
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Cleft hard, front region |
0 |
0 |
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High arched |
8 |
80% |
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None of the above |
0 |
0 |
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Does child make snorting sounds? ** Part of this poll was asked earlier without the ‘when’. |
Yes |
10 |
|
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No |
5 |
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If yes, when? ** more than one response could have been selected |
Sleeping |
3 |
|
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Agitated |
1 |
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Playing |
1 |
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Laughing |
1 |
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All the time |
3 |
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NOTE: the percentages do not always make sense as Yahoo calculates them by the number of responses versus the number of options. If there is an A/B question, I have tried to recalculate the percentages. The number of responses are correct.
