Help & advice
Having your new baby diagnosed with the severe form of nemaline can be a devastating
time. If you feel talking to a parent who has been in the same situation would
help, then please contact one of the following people. These families have given
their permission to be listed here because they want to help you. Each person
has given a few details about their situation for you to decide who might be
the best one to talk to. Please
see our Support Families page.
NM Chat Group
You can subscribe easily to the mailing list. Created on 13 July 1999 as a means
for anyone to converse with all listers
together. Ask questions and share answers. So far there about 130 people subscribed.
Professionals and parents have
shared valuable information for the development of children who are learning
to live with this challenging and often difficult disorder.
To join the main chat group. Send a blank email to: nemaline-subscribe@yahoogroups.com
To send a message to the group list. Email to: nemaline@yahoogroups.com
To leave the group: nemaline-unsubscribe@yahoogroups.com
Please contact me directly if you experience any problems
joining or leaving the group, and I will make changes manually.
NM_FA
NM Future Adults is a new emailing chatgroup established for 10-25 year old
people with NM. Teenagers and adolescents
find it easier to discuss peer pressure and difficulties making friends and
family understand their physical disability. This egroup
was started by Jess in New York, and already has members in Austria, Australia,
Canada, UK and USA.
To join the Future Adults chat group. Send a blank email to: nm_fa-subscribe@yahoogroups.com
To send a message to the group list.
Email to:nm_fa@yahoogroups.com
To leave the group: nm_fa-unsubscribe@yahoogroups.com
Deutsche Chat-Gruppe
Senden sie eine leere E-Mail an folgende Adresse um der deutschen NM Chat-Gruppe
beizutreten: nemaline_myopthie-subscribe@yahoogroups.de
Benutzen sie folgende Adresse um eine Nachricht an die Gruppe zu schicken: nemaline_myopathie@yahoogroups.de
Senden sie eine leere E-Mail an die folgende Adresse um aus der deuschen NM
Chat-Gruppe auszutreten: nemaline_myopathie-unsubscribe@yahoogroups.de
Spanish Chat Group
To join the NM Spanish chat group. Send a blank email to: miopatianemalina-subscribe@yahoogroups.com
To send a message to the group list. miopatianemalina@yahoogroups.com
To leave the group. Send a blank email to: miopatianemalina-unsubscribe@yahoogroups.com
Tracheostomy chat groups
Other useful chat groups are:
Send a blank email to: Tracheostomy_infants@yahoogroups.com
Send a blank email to: Tracheostomy-subscribe@yahoogroups.com
Send a blank email to: NeckBreathers-subscribe@yahoogroups
CPAP Talk
Jess wrote:
I happened upon this website a few weeks ago and it has been really useful to
me. It is called www.cpaptalk.com and
there is a
messageboard and an online store.Most of the people on the board are older adults
who use CPAP for sleep apnea. They are
all extremely helpful and supportive. We may be using these machines for a different
reason but we all face the same issues with
regards to mouth breathing, air flow, air swallowing, etc. It was on this site
that I found out about the ONE place you can buy
a heated bipap hose (my DME didn't know what I was talking about when I asked
for a heated circuit they only have them
for vents). I think it would be a great idea to post this link on the NM site
under "Bipap Support" or something. I really wish I had
found it earlier.
Families often state that a number of activities have helped
them reduce the stressful parts of parenting a child with special medical needs.
Reducing the stress allows them to make more room to enjoy their child.
Activities may include:
- forming partnerships with their child's providers
- playing an active role in all level of decision making
- becoming an expert on their child's concerns
- learning to advocate for those concerns
- getting involved with other families with similar concerns
Forming Partnerships
One of the most important challenges of parents of children with complex medical
needs is the selection of their child's team of caregivers. Some parents coordinate,
manage, and recruit each member of their child's team of caregivers. These caregivers
can include a variety of people. Most teams include medical providers like primary
care doctors and specialist doctors. Other members might be counselors, baby-sitters,
grandparents, friends, and neighbors.
While parents look for caregivers that are highly skilled and accessible, they
also search for someone with whom they feel the greatest level of comfortable
communication. They look for caregivers they can ask any question and to whom
they can communicate their needs without embarrassment. Families seek providers
that are comfortable learning as well as teaching. They look for providers with
whom they can form partnerships.
With so many different knowledge bases and sometimes priorities, members of
the team may raise conflicting concerns and recommendations. The family then
learns how to weigh all the information to finally choose what works best for
them. One strategy that has worked for many families includes teaming up with
other local families. Aside from the benefits of sharing support, these partnerships
can help identify areas of concern, encouraging additional resources and expertise
within the community.
Certainly, no one knows a child better than his/her parents. While doctors and
other caregivers may have condition-specific information, only parents can determine
if and how that information relates to their child. Over time, many families
become true experts on their child's diagnosis. Many families take this opportunity
to teach their providers what they know. In this way, they become advocates
not only for their child, but also for other children. Strategies for before,
during, and after an appointment are outlined below (edited from April Linette
Leaman's ideas presented on-line at the EDNF web site).
Before the appointment.
Briefly write down significant medical history. Include episodes of major illness,
hospital admissions, ongoing medical or behavioral problems, and medications.
This summary can help guide the health care team when reviewing the child's
chart. The Alliance for Genetic Groups provides information on this topic. Please
see medicaljourneys.com/ArticleofMonth
Make a written list of questions and concerns.
Leave space to write down the answers. Meetings with the providers should be
an open exchange of ideas and information. Do not hesitate to actively participate.
Here are some questions that may be good to ask during a genetics appointment:
- What is the diagnosis?
- How accurate is the diagnosis?
- Are there any tests that can confirm that a person has this condition?
- What are the characteristics of this condition?
- Is there a cure or treatment for the condition?
- Is financial assistance available?
- What other specialists do I need to see?
- How likely are my family members to have this condition?
- Is this condition passed on from one generation to the next?
- Where can I get additional information?
If the diagnosis is known, bring a brief explanation of the diagnosis. If available,
bring any brochures or relevant articles. These can serve as reminders of the
important health concerns. Bring a list of all the health care professionals
involved in the child's care. Include their names, specialties, and contact
information. This can help bring together the team and encourage to provide
an integrated approach.
During the appointment.
Tell the doctor the reason for scheduling an appointment and what are the goals
for the visit. This will help the doctor to provide the most appropriate care.
Discuss all aspects of the child's care. Often families are hesitant to mention
something because they fear that their concerns are unimportant. Seemingly unrelated
symptoms or even subtle characteristics may turn out to be key in determining
a diagnosis or the best care program. Parents should always tell everything
and let the doctor determine what is relevant. Be as clear and descriptive as
possible. Do not hesitate to rephrase questions or concerns if you are unsure
that your concerns are not being understood. Do not be afraid to ask questions.
All questions are important. Sometimes there is a lot going on at the clinic
and it may be difficult to remember all the questions. Bringing a list of questions
with room for your notes may be helpful. Before leaving the office, make sure
that all questions have been answered and you are comfortable with the information
presented. If the provider suggested a diagnosis, prescribed medication, or
recommended a treatment, do not hesitate to ask questions or raise concerns.
Ask for written materials and ask for definitions or how to spell a word.
After the appointment.
If there are any remaining or new questions, call. If the provider is not available,
another health care professional on the team can help. Get informed. Subscribe
to a newsletter or attend meetings about the child's condition. Next time you
see the doctor, you may be able to share the most recent information on the
child's condition. Whenever possible, ask for and keep copies of exams, tests,
and letters from the provider. AND ALWAYS TRY TO… Be informed of health insurance
issues. It is helpful to know what are the insurance privacy regulations, annual
deductible, whether a procedure requires pre-approval, etc. Protect your privacy.
It is important to use judgement to decide who needs to know medical information
about you. Do not give disclosure authorization if there is a doubt. Maintain
a positive attitude and substitute negative thoughts with positive affirmations.
-----
Written by:
Ana Morales, MS
Adapted from:
The Genetic Alliance Website and Linette Leaman's ideas presented on-line at
the Ehlers Danlos National Foundation Website
Edited by:
Dita Obler, MS and Kathryn Spitzer, MS.
--
Ana Morales, M.S
Genetic Counselor
Children's Hospital Division of Genetics
Enders 5 300 Longwood Avenue Boston
MA 02115, USA
Phone: (617) 355-2185
Fax: (617) 355-7588
mailto: amorales@genetics.med.harvard.edu
Communication problems
For those who do not have speech problems but do get tired writing or typing.
Speech recognition software may be the answer. Try this webpage for some advice:
www.alsoregon.org/treatment/treatment.htm
Choose the AAC (Communication) link from the left hand list. The overview
covers the topics below and includes explanations of key product features and
product comparisons.
| Introduction | The Role of the Speech Language Pathhologist |
| Funding Options | AAC ALS Stages |
| Computers | Licensing and Support |
| Voice Recognition Software | Text-to-Speech Software |
| Onscreen Keyboard Software | Dwell Click / Cursor Control Software |
| Head Controlled Mice |
Eye Gaze Control |
| Brainwave Control |
Sibling Support Project
Children's Hospital and Regional Medical Center Seattle, Washington
If you want to learn more about this program, I suggest you visit their web
site: seattlechildrens.org/sibsupp/default.htm
By visiting, you can look for the nearest "Sibshop" in your area, read their
newsletter, see their special resources like books, videos, and much more.
WISH GRANTING ORGANIZATIONS
Brass Ring Society
500 Macaw Ln, #5 Fern Park, FL 32730
brassring@brassring.org Brass Ring
CHILDREN'S HOPES AND DREAMS FOUNDATION
Fulfills the dreams of children who are affected by life-threatening or chronic
illnesses or disabilities, also provides support, pen pal programs, and a Kid's
Kare Packages program. 280 Rt. 46, Dover, NJ 07801 1-800-437-3262 (973) 361-7366
(973) 361-6627 (Fax)
CHILDREN'S WISH FOUNDATION
1735 Bayly Street, Ste 8C, Pickering, Ontario, Canada, L1W 3G7. (tel) 800-267-9474,
(tel) 905-420-4055,
(fax) 905-831-9733. For Canadian children ages 3-18.
CHILDREN'S WISH FOUNDATION INTERNATIONAL, INC. (CWFI)
Fulfills the wishes for children with life-threatening and terminal illnesses,
and provides brochures, pamphlets, informational video, press kits, and a quarterly
newsletter. PO Box 28785, Atlanta, GA 30358. 1-800-323-9474 : (770) 393-9474
(770) 393-0683 (Fax) childrenswish@mindspring.com OR 7840 Roswell Rd.,
Suite 301, Atlanta, GA 30350 (404) 393-9474 (M-F 9am-5pm EST)
DREAM FACTORY
Fulfills the dreams of children who are critically or chronically ill. 315 Guthrie
Dr., Louisville, KY 40202 (502) 584-3928 THE DREAM FOUNDATION Provides wishes
for adults with terminal illnesses with 12 months or less left to live in the
Santa Barbara area. Has support services to others outside their service area
who are looking to help fulfill someone's dream. PO Box 3495, Santa Barbara,
CA 93130-3495 1-888-4-DREAMS, (805) 564-2131 steven@dreamfoundation.org
www.dreamfoundation.org
DREAMLINE
Provides free airline travel for children coping with serious illness, such
as cancer, brain tumors, or leukemia. While we primarily award free travel for
children who wish to take a much needed vacation, visit friends and family,
or just "get away from it all" for a little while, we also are able to provide
free travel for emergency medical treatment (in the event that other organizations
are unable to do so). 117 N. Merrill St., Park Ridge, IL 60068 (847) 910-3940,
(520) 563-6437 (Fax), (847) 384-0690 (Fax) bobiverson@bobiverson.com
www.bobiverson.com/dreamline
OR 1701 N. Clybourn, Chicago, IL 60614 (312) 202-9000, (312) 202-0188 (Fax)
GIVE KIDS THE WORLD FOUNDATION
Fulfills the wishes of all terminally ill children and their families from around
the world to experience a memorable, joyful, cost-free visit to the Central
Florida attractions and to enjoy the magic of Give Kids the World Village. 210
S. Bass Rd., Kissimmee, FL 34746 (407) 369-1114, (407) 239-2308 www.gktw.org
HIGH HOPES
Grants wishes to any New Hampshire child ages 3-18 with life threatening or
chronic disease that is of a progressive nature. www.highhopesnh.org
MAKE A WISH FOUNDATION
Grants wishes to children in the US with terminal illnesses or life-threatening
medical conditions creating the probability that the children will not survive
beyond their 18th year. 4601 N. 16th St., #205, Phoenix, AZ 85016 1-800-722-9474,
(602) 234-0960 OR 2600 N. Central Ave., Suite 936, Phoenix, AZ 85004 (602) 240-6600
OR 100 W. Clarendon, Suite 2200, Phoenix, AZ 85013-3518 (602) 279-9474 www.wish.org
STARLIGHT FOUNDATION
For children ages 4-18 it arranges and finances trips for chronically, critically
and terminally ill children as well as grants wishes. 10920 Wilshire Blvd.,
Suite 1640, Los Angeles, CA 90024 1-800-274-7877, (213) 208-5885 OR 12424 Wilshire
Blvd., Suite 1050, Los Angeles, CA 90025 (310) 207-5558 www.starlight.org
SUNSHINE FOUNDATION
Grants wishes to terminally and chronically ill children whose illnesses have
placed their parents under financial strain. 4010 Levick St., Philadelphia,
PA 19135 1-800-767-1976, (215) 335-2622 OR 2001 Bridge St., Philadelphia, PA
19124 (215) 535-1413 www.sunshinefoundation.org
A WISH WITH WINGS
For children ages 3-16 that grants wishes for toys, trips, introductions to
celebrities, etc. to children with life threatening illnesses. PO Box 3457,
Arlington, TX 76010 (817) 469-9474, (708) 246-2723
Congenital nemaline myopathy:
recommendations for the care of patients:
Carina Wallgren-Pettersson, M.D., PhD. D., Consultant in Medical Genetics, Coconvenor
of the EMNC International Consortium on Nemaline Myopathy.
Clinical summary:
Congenital nemaline myopathy is characterised by generalised muscle weakness
from birth or infancy. The diagnosis is confirmed by a muscle biopsy, which
reveals the presence of threadlike nemaline bodies (Greek nema = thread) in
the muscle tissue, and often predominance of slow (type 1) muscle fibres. The
respiratory muscles are often especially weak, which leads to restricted respiratory
capacity. Cardiac contractility is normal, and involvement of the cardiac muscle
is very rare. There is also no evidence of smooth muscle involvement. No abnormalities
of the central nervous system have been documented. The prognosis is largely
dependent on the on the maintenance of muscle power and respiratory capacity,
and the prevention of scoliosis and other detrimental contractures. Both an
autosomal dominant and an autosomal recessive form of nemaline myopathy exist,
and the two may be indistinguishable on clinical grounds in the individual patient.
Thus, consultation with a specialist in Medical Genetics is recommended.
Follow-up:
Respiratory capacity requires monitoring, and special attention should be paid
to possible signs of nocturnal hypoxia. If vital capacity goes down substantially,
annual sleep apnea studies including arterial oxygen determination during the
very early hours of the morning are necessary. Cardiac follow-up is indicated
because of the risk of cor pulmonale. Swallowing difficulties are common and
may require intervention to prevent aspiration. Should scoliosis develop, early
operation is preferable to bracing because of the further restriction of respiration
caused by bracing. Other contractures should be treated conservatively but as
actively as possible to avoid surgical interventions requiring immobilisation.
It is clear that complete immobilisation of a limb for any length of time leads
to irreversible atrophy of the muscle in that limb. If surgical intervention
is necessary for any reason, rapid postoperative mobilisation is important.
Evidently, smoking endangers the small respiratory capacity even further and
should be strongly discouraged.
Physiotherapy:
All patients with nemaline myopathy are likely to benefit from physiotherapy,
provided it is given by a physiotherapist familiar with the treatment of neuromuscular
disorders. It should include maintenance of muscle strength and range of movements,
prevention of scoliosis and back pain, and maintenance of respiratory capacity,
mobility and independence in the activities of daily living. Physiotherapy should
be maintained during any periods of hospital treatment, and used to prevent
the detrimental effects of any immobilisation. Cardiorespiratory exercises recommended
are endurance training, e.g. swimming, and regular breathing exercises with
the aid of a mechanical ventilator. Anaesthesia: No anaesthetic complications
have been reported. Nevertheless, muscle relaxants are best avoided, and benzodiazepines
should be used with caution because of their potentially adverse effect on breathing
and muscle power. Occupation: The patient should be encouraged to choose an
occupation free from physical strain, high risk of infection, and exposure to
tobacco smoke and other toxic agents. Pregnancy: Many patients have gone through
pregnancy and delivery without problems. Nevertheless, the pregnancies of affected
women should be followed carefully by the Neurologist and Obstetrician caring
for the patient. Special consideration should be afforded the patient’s respiratory
capacity, muscle weakness and any contractures potentially complicating delivery.
Although involvement of smooth muscle has not been reported, the process of
labour needs to be planned carefully and managed individually.
Keeping Notes
One suggestion that is helpful for all parents of special needs children is
for them to assemble a loose-leaf notebook on their child. You can put dividers
in it for subjects such as Doctors, Therapies, Exercises, Contacts, the local
children's agencies in your state etc. You can keep the latest doctors reports,
information on NM (that you can get from this website) etc. This notebook will
come in handy when you make a visit to the paediatrician who may never have
heard of NM and to the various specialists, agencies and multitudes of therapists
who want a synopsis of your child's health history etc.
Gary Spiegel
Starting Out
1. Establish a team of doctors:
-pediatrician
-neurologist
-orthopaedic specialist
-pulmonologist
-gastrologist (GI)
-nutritionist
-cardiac specialist
-surgeon
2. Establish team of therapist
: -occupational
-physical
-feeding
-speech
-manual (chiropractic type of treatment)
3. Register with Muscular Dystrophy Association
4. Register with Early Intervention
5. Keep a medical journal with copies of all doctor reports etc.
6. Register with division of developmental disabilities (DDS) this division
falls under department of human services.
Physical Development
Of course every child with NM has a different timetable for developmental progress
so I will share with you our experiences with Miriam. Also you need to consult
your P.T. for more details. Be sure to get the best paediatric P.T. that you
can as they really can make a difference! Once Miriam was able to sit on her
own, we would put her in a "tall kneeling" position. Basically we would start
by placing two cushions on the floor in front of her (any flat but firm cushions
will do about 6" high per cushion). Next we would place Miriam on her knees
in front of the two pillows with her back straight and her hands resting on
the cushions in front of her. Once she is able support herself in this matter
for several minutes you may be able to progress to one pillow. She will develop
trunk strength which is needed to support the body during standing and ultimately
walking. Of course this exercise is boring and difficult at first, so we started
with very short periods of time and increased the time as she gained strength.
Miriam used to watch Barney videos while doing this exercise and this helped
relieve the boredom, or we would put a puzzle or toy in front of her on top
of the cushion. When the child gets tired, they will sit down on their butt,
so you may need to start off by holding the child a little with one hand to
steady him/her from behind. I am sure your P.T. knows about this exercise. We
did not have a supine support for Miriam. Once she was able to support her body
weight, we would have her stand against our bed (while watching a video). We
would start off for a few seconds while supporting her and later increase the
time so that she could stand for several minutes without help. She still could
not balance on her own. When Miriam was 2 years old, we would have her stand
against her crib while she would hold onto the bars. An amazing thing happened
and she started to take a side step. Before we knew it, she would have the greatest
time walking around her crib showing off. Eventually she would walk around our
apartment hugging the walls. She did not actually free walk until she was 2
1/2 and then she was very unsteady. So expect a lot of falling, bruised and
banged up knees and even foreheads. That was the unpleasant part of the walking
process and no matter how much steadier Miriam is now compared to then, she
can still be easily knocked over with a slight bump. But the child is so motivated
once they discover mobility, that they will want to progress no matter what.
Gary Spiegel
Michigan has a program called Children's Special Health Care Services.
They help with specialists, clinics at the hospitals and vehicle adaptions.
This page was last
updated: June 10th, 2007
© David McDougall. 1999-2007
Contact: davidmcd_@hotmail.com