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Help & advice

Having your child diagnosed with any 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 join one of the following groups.

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 are 190+ people subscribed. Professionals, parents and those living with NM share
valuable information for the development of children who are learning to live with this challenging and often difficult disorder.

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

Tracheostomy Awareness Group (Ireland)
This web is mainly for people living in Ireland, but their experiences and information may be of great use.
There is an excellent glossary of the various terms and phrases used in dealing with a trache.

Ventilator users
http://health.groups.yahoo.com/group/npventsupport/
Send a blank email to: npventsupport-subscribe@yahoogroups.com


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.

NM Support Group
The NMSG was created to raise funds towards NM Convention 2007, and will continue to fundraise for future projects in Europe and help families in need of advice and hopefully eventually a little financial assistance.
Emails to: davidmcd_@hotmail.com

Personal bereavement counselling
Angels4ever.com is a site for those who have lost a baby.
As well as a mailing list (including one for loss in multiple birth) they have some good grieving resources.

Cruse Bereavement Care
(UK) 0808 808 1677
info@crusebereavementcare.org

Professional Counselling Websites
www.bfotoronto.ca

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.

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 5, 2009
© David McDougall. 1999-2009
Contact: davidmcd_@hotmail.com