NEWLY DIAGNOSED

What is Leigh syndrome?

 

Leigh syndrome also known as Leigh disease, is a mitochondrial disorder that mostly affects children under the age of ten.  It is a serious neurological disorder that often affects the development of mobility, posture, and mental capacities in children, with these capabilities occasionally being lost after a period of seemingly normal growth.  Leigh syndrome is caused by a variety of genetic errors (mutations).

 

What is Cure Mito Foundation?

 

Cure Mito Foundation is a patient advocacy group led by parents of affected children. We are dedicated to improving the lives of children and families affected by Leigh syndrome. We are a fully volunteer foundation, with 100% of funds raised going towards research.

Getting the diagnosis

 

Most parents have hopes and dreams for their child. When your baby or child is diagnosed with a life-limiting illness, those hopes and dreams are suddenly interrupted.  You may be feeling a variety of feelings, such as shock, numbness, anger, fear, or guilt. Even though it may not seem like it in the beginning, you will be able to feel hope and even joy again. You may also find a newfound strength you didn’t know you had. You may find that difficult feelings and hopeful feelings come in waves. We have been where you are. You are NOT ALONE.

Your Marriage

 

Taking care of a seriously ill child can put a strain on a marriage due to financial issues, lack of free time, and stress associated with caregiving responsibilities. Additionally, men and women often handle crises differently, or have conflicting coping styles. Simply being aware of and accepting these differences can be helpful. If you find that your marriage is suffering and effective communication is difficult, consider couples counseling to work through this difficult time. Parents often say that finding constructive ways to weather this crisis brought them closer together.

Siblings

 

Depending on the age of the sibling, siblings can go through a crisis of their own and experience grief, fear, shock, or feeling of loss of a sibling and family they thought they would have. Some parents have described that siblings lost their innocence having come face to face with a problem their parents can’t fix or make better. While the majority of the attention early on may be focused on the child diagnosed, it is important that siblings get adequate support during this time.

Courageous Parents Network has a guide on helping sibling cope, which you may find helpful:

https://api.courageousparentsnetwork.org/app/uploads/2017/11/CPN-Silbings-Guide-4-2021.pdf

 

Sibling support project is another resource that many families find helpful:

https://siblingsupport.org/

 

A book, “Charlie’s teacher” is the story of a little girl whose baby brother, Charlie, has special needs. The book is free on apple books and is used by Child Life departments in hospitals around the country: 

https://books.apple.com/us/book/charlies-teacher/id842217407

 

Grandparents

 

Grandparents can go through many of the same feelings as parents do as they grieve for both their child and grandchild. Denial of the child’s diagnosis is common, and usually reflects an intense need to believe that all will be well. Whenever possible, include grandparents in your child’s care and share information with them. A grandparent’s positive and encouraging attitude can be a tremendous asset for a child and the entire family unit.

Friends and Others

 

Friends, co-workers, strangers, and even relatives can sometimes say thoughtless or hurtful things. It is important to remember that most people mean well and want to do the right thing, but don’t know how to act or what to say. It is ok to tell someone that what they’re saying is difficult, hurtful, or not supportive. Likely, they will appreciate knowing this and will adjust their approach.

Self-care

 

Although this may seem difficult or impossible to do, making sure to take care of yourself first and foremost is very important.  This involves taking time for yourself, continuing to engage in activities that you love, growing spiritually, exercising, eating right, getting plenty of sleep and allowing others to help you.  

Courageous Parent Network is a good resource to find tips to help you care for yourself: https://courageousparentsnetwork.org/topics/taking-care-of-yourself
 

Medications/treatment options

 

Unfortunately, there is no cure for Leigh Syndrome.  Many physicians will prescribe a “Mito Cocktail” which is a combination of vitamins and supplements that may have some benefit, although it is not proven.  Management often involves a combination of vitamins, optimizing nutrition and general health, and preventing worsening of symptoms during times of illness and physiologic stress.

 

Medical care

 

Leigh Syndrome and mitochondrial diseases are multisystem diseases, affecting multiple organs and body functions. Therefore, you need a multidisciplinary approach, a team of doctors. As mitochondrial diseases are rare diseases, you might not find a specialist in your hometown or close to it. In Europe, for example, some families have to travel to other countries to find a specialist. It’s very important for your local physician to be included in the team of specialists taking care of your child.

Seattle children’s hospital has useful tips on organizing your child’s health information:

https://cshcn.org/wp-content/uploads/files/Care_Notebook/CareNotebook-AllDocuments.pdf

https://cshcn.org/planning-record-keeping/care-organizer-for-parents/

Parent/Physician Partnerships

 

Parents of children and adults with Leigh syndrome interact with many doctors and medical professionals. The best parent/physician relationship is a partnership - with both parties contributing to the goal of best care. Before the appointment, it is good to prepare and write down a list of questions you would like to address at the appointment. Equally important, is to prepare the doctor. Explain what information you have already been given and how you understand it, and your goals for the appointment and the care of your child. Remember to be positive, but also assertive.

 

If you find a relationship with a doctor becoming strained, consider the qualities that are truly important to you in a physician: knowledge, skill, and experience, for example. Then consider that there are things that are nice to have, that are not vital to good care, such as a sense of humor, or a warm and friendly personality. It’s wonderful when a doctor has all of these qualities. But when they do not, consider your priorities carefully when deciding whether to continue the relationship. 

A mom of a child diagnosed with mitochondrial disease has written a beautiful blog post about communicating with doctors: https://courageousparentsnetwork.org/blog/language-that-builds-a-bridge-please-help-me-understand

 

Emergency letter

 

It is very important to request an emergency letter from your physician.  Leigh Syndrome is a rare condition and many doctors don't know about it, emergency letter  will help provide guidance to the doctors in an emergency situation. 

Clinical trials

 

If you’re interested in looking into clinical trials for your child, Clinicaltrials.gov is a database of privately or publicly funded clinical studies funded around the world.  Additionally, Trials Today (trialstoday.org) makes it easier to search for a clinical trial - by answering a few short questions you will find a list of studies available on Clinicaltrials.gov that may interest you.  

It is a good idea to learn about what clinical trials are, and what participation would mean for you as a family. Courageous Parents Network has put together a Clinical Trials Unit, which contains information such as printable guides to understanding clinical trials and video interviews with families: https://courageousparentsnetwork.org/topics/clinical-trial

 

Palliative care

Though many people associate palliative care with end of life or dying, which is actually hospice care, pediatric palliative care is an extra layer of support that can begin at diagnosis and can help the entire family cope, physically and emotionally. Palliative care specialists can help you think through and discuss medical decisions and how they may affect the entire family, discuss and understand goals of care, address siblings needs, and other issues that can come up in when your child is diagnosed with a serious life-limiting illness. 

 

More information: https://courageousparentsnetwork.org/parents/pediatric-palliative-care

 

Social media

 

Many parents in the rare disease community find it helpful to participate on social media, such as Facebook groups for their child’s condition. It is a good way to stay connected and meet other families going through similar experiences. It is important, however, to keep in mind that Leigh syndrome is a complicated condition, caused by multiple mutations, which often manifest themselves in different ways and affect individuals differently. In other words, what works or helps one child may not be that helpful to another. Hearing from others on social media can give you ideas to try, but do not assume that everything you read or hear will apply to your child. 

 

Additionally, Leigh Syndrome may be caused by either nuclear or mitochondrial DNA mutations (https://www.curemito.org/inheritance), which would affect how disease may be inherited, or which family planning options may exist. Frequently, families are very familiar with the medical details affecting their own child or family, and may not be aware of how Leigh Syndrome may be inherited or affect others. Therefore, it is recommended to verify all medical information with your child’s doctor or medical team. 

Patient registry

We encourage you to enroll your child into a patient registry for Leigh Syndrome. By being a part of the patient registry, you can help researchers learn more about Leigh Syndrome, and be updated on research or clinical trials that may be applicable to your child. All insights and findings learned from the data will be shared with you.

 

To learn more please visit: https://www.curemito.org/registry

We are stronger together. Join our efforts

 

There are many ways to get involved: https://www.curemito.org/get-involved

 

Resources

 

You may find the following resources helpful:

 

Guidebook for Caregivers of Children with Rare and/or Serious Illness - by National Alliance for Caregivers and Global Genes

https://www.caregiving.org/wp-content/uploads/2021/07/NAC_RareCaregivers_Guidebook_FINAL.pdf

 

Making Informed and Shared Decisions About Genetic Testing and Clinical Trial Participation by Global Genes

https://resource-hub.globalgenes.org/kb/article/306-making-informed-and-shared-decisions-about-genetic-testing-and-clinical-trial-participation/

 

Yellow Pages for Kids with Disabilities - find resources in your state:

https://www.yellowpagesforkids.com/

 

Patient assistance programs that help pay for medications:

https://www.rxassist.org/

https://www.needymeds.org/

Additional resources listed on our support page:

https://www.curemito.org/support

 

Books we like about hope, resiliency, and finding courage in difficult circumstances:

https://www.curemito.org/recommended-books

ACKNOWLEDGMENTS

We would like to thank individuals and organizations mentioned below for their contributions.

For review and editing of this guide:

Krisztina Ferencz, mom and Cure Mito partner from Romania

Blyth Lord, Founder and Executive Director of Courageous Parents Network

Danielle Boyce, MPH, DPA, Cure Mito Scientific Advisor

WAGR Syndrome Association - for creating an excellent guide for newly diagnosed families and allowing us to borrow some of the content

All organizations mentioned in the links above for creating wonderful resources for families