Grace and more grace: Miller-Dieker Syndrome, Lissencephaly with Podcast

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Has your child or grandchild recently been diagnosed with Miller-Dieker Syndrome or another form of Lissencephaly? Then this article is for you! I hope that you will find hope and encouragement as you learn and adapt to your new journey. Being told that your new baby has arrived with extreme special needs is not something any parent expects and the news can knock the wind out of you, even if you find out prenatally.

Listen to the podcast for more information. https://anchor.fm/blueskiesandgreenpastures/episodes/Living-with-Lissencephaly-Miller-Dieker-Syndrome-e127mso

Take a breath, give yourself a break, and just take it one day at a time.

Girl

I still remember those days. My daughter Grace had already been seen by a few doctors by age 4 months as we had noticed that she was not developing like our other three children. She was not making eye contact, not rolling over and not holding objects. One doctor blamed her crying on constipation but we later discovered it was seizures. One doctor told me to wait another month before I started worrying. One doctor looked at her like she was a cockroach on his examining table and simply stated that something was wrong with her and referred me to the next doctor. That hurt.

Sleepy at the lake 2020

Eventually we were referred for genetic testing and the sharp-eyed specialist evaluated her facial appearance, which seemed very normal to everyone else, and noticed little things that could indicate Miller-Dieker Syndrome. She ordered the FISH test.

We had to wait a week or two for the results, and then we anxiously went back to her office. She broke the news gently that she was correct about her hunch, that Grace had a severe condition called Miller-Dieker Syndrome, but we really did not understand in that moment what this meant. She informed us that MDS was not something that we passed on to her, but in some cases it can be so you should have yourself tested if you want to have more children. We took our baby girl home and tried to cope with the news. Our hearts were crushed. Our kids were sad. Our parents were devastated.

Grace was also tested for blindness and deafness during these early months. They determined that she was not deaf, but that she had CVI, cortical vision impairment, which means “a decreased visual response due to a neurological problem affecting the visual part of the brain. Typically, a child with CVI has a normal eye exam or has an eye condition that cannot account for the abnormal visual behavior.”

Over the next few weeks, we received guidance and assistance from various agencies and doctors to get her into all the programs that she qualified for. This included ECI, Early Childhood Intervention, who came to our house to give Grace therapy, as well as getting set up with Social Security. Back then there was only one way to get Social Security, by waiting in a long line! Nowadays many programs and procedures have been added and improved and can be accessed online.

Ask your child’s doctor or social worker to get you all the help you qualify for. It is their job.

After pushing my daughter in a half marathon race. Great day!

It wasn’t long before our baby had her first seizures and that sent us to the hospital. I still remember the terror and sadness I felt as we waited in the crowded emergency center of Texas Children’s Hospital for a room to become available. After that came many more seizures which broke our hearts to watch. But eventually the neurologist at the Blue Bird Circle Clinic hit upon a combination of medications that reduced the seizures.

She was put on phenobarbital and zonisamide for quite a few years. We learned a lot about the different types of seizures. The ones that every parent hates are infantile spasms , which she had until she was about 4 years old. These are terrible to watch and can be repeated for a long time, unlike other seizures that are one at a time.

If your child’s seizures are under control, they will have much better overall health, so keep trying!

My daughter was able to breastfeed for the first year and I have no doubt in my mind that this contributed to her strong immune system. (No judgment for however you feed your baby.) Sadly, I barely have any memory of that precious time with her because I was under so much stress. But I do remember that when I decided to try giving her a bottle of formula, she got her first case of aspiration pneumonia due to the fact that babies lose their natural suck/swallow reflex and have to be be more careful not to choke or inhale their food. I had also attempted to feed her baby food and she did not do well.

The following is a good chart describing how normal babies learn to eat. After that she had a fundoplication and gastrostomy surgery so she could be fed directly into her stomach by a tube. It’s way less scary than it sounds and makes feeding time much less dangerous and stressful.

I know this sounds depressing, but the good part is that she is still alive despite the negative prognosis given to us when she was diagnosed 20 years ago!

By now you might be thinking that you will never survive all these emotions and doctor visits and learning new things and the unknown. It is definitely going to be difficult and a big change. But you will be okay if you give yourself time to figure it out, don’t put too much pressure on yourself to be an expert, be willing to accept help, and take time for yourself to recharge.

One thing that helped me was to search out moms with children like my daughter. Dads are great, too, but back then, it was mostly moms that I found. The internet was very new in 2000! Think America Online and Netscape. I found a community of wonderful people in an email group called the Lissencephaly Loop. They are now meeting on Facebook, along with several Miller-Dieker support groups. These parents provided me with more information than most of the doctors we saw. I usually had to educate the doctors because MDS is a rare condition that not many of them had seen back then. Being able to talk to other parents also gave us the courage to have more children after Grace.

Hot day at the Texas coast

My online friends offered much needed encouragement not to believe the doom and gloom that I heard from doctors. They told me and I am telling you: Every child is different!

As far as what to expect in the way of development, only time will tell. I suggest you be hopeful, but realistic so as not to get too disappointed. With true MDS, most kids cannot walk, talk, sit up on their own or feed themselves. Most don’t interact much with their hands or play with toys. Some can crawl, but that is rare. My daughter was able to roll over as a baby but now she cannot. She is not a ‘vegetable’ as some people might think. But she doesn’t have a way to communicate and her mental age is probably still in infancy. It may be hard to imagine, but we can tell that there is more going on in her head than she can express, but only God knows what. We love her the way she is.

Grieve deeply for the child that you did not get and then focus on the joy of whole-heartedly loving the child you have been given.

So what can you do to help your child have the best chance at a healthy and comfortable life? You have to be their advocate. If they are in the hospital, you can’t be afraid to speak up. We were told several times when my daughter was younger that she ‘might die’ or was deteriorating. That was not true. She was just very ill. Remember this! Our kids are very unique. They do not respond to treatment as fast as normal kids. Don’t let the doctors rush them! My daughter always takes a long time to get back to her ‘normal’ when she has had pneumonia ( a common issue with our kids) , but so far, she has been able to do that. Now, each child is different, so just advocate for what your child needs.

Don’t let the doctors rush you into making a decision about any permanent procedures.

At this time my daughter does not have a tracheotomy. But I know many children younger than her who needed them and have them. If that question comes up, just make sure you have exhausted all other possibilities because that will require a very different type of care and equipment and more doctor visits and possibilities of infection.

With Miller-Dieker Syndrome, there are varying degrees of disability, but all children will have severe developmental delays. Most kids will need feeding tubes, some will need constant oxygen, some will need traches, some will have other health problems. If your child is more severe, then their lifespan could be shorter than my daughter’s . As you will find by reading various scientific websites about MDS, they are not always updated about the prognosis.

When Grace was diagnosed we were told she might live 2-3 years and for three years we expected her to die at any moment, especially because she had a lot of seizures and pneumonias during that time. But as she got older we started to relax. I currently have at least 10 friends whose children are in their teens. And one friend’s daughter lived to her early 30s. Others only live a few months or up to 2 years if they have heart and kidney problems. The important thing is not to give up on your child! They might live a much better and longer life than you think.

girl in wheelchair
Easter 2016

Do not believe everything you read online about MDS. Some of it will not apply to your child. Some is just outdated.

Daily life with my daughter when she is not sick is not difficult. She sleeps in a room next to my bedroom. She has a lot of medical equipment here in case she needs it, including oxygen and suction machine, pulse oximeter, and a VEST for respiratory therapy. Her diapers and formula and medicine are provided by Medicaid. She is tube fed and takes her seizures meds via her gtube . When she was younger, she had therapists who came to our house. After a while we stopped getting therapy, but most people continue it lifelong. She is on a program that pays for a respite care provider to give me a break from being her full-time caregiver. In our case, having 5 other children, I had no desire to work outside the home. In the future, that could change as my older children are almost grown. But having been her main caregiver for so long, it’s hard for me to trust anyone else to do it right.

Make it your goal to train several willing family members, friends, or paid caregivers how to take care of your child so you can have time for yourself, your other kids, and your spouse.

The hardest part of being a special needs mom has been watching my child have seizures. The second hardest part was a time that many MDS kids seem to go through when they cry a lot and nothing helps. The doctors said the crying was cause by neurological events but it was very hard on everyone. If that happens, be sure to take those breaks I mentioned, or just go outside. Wear earplugs if you have to. Illnesses and hospitalizations are also exhausting and disruptive to the whole family because they can last for weeks sometimes. But thankfully my daughter seems to get sick much less often now compared to when she was a baby. I think a major reason for her improved health is that we put her on a different seizure med, Lamictal/lamotrogine, and her seizures are much better.

The difficult times will test your strength and your faith. Now is the time to lean on God and anyone who is willing to support you!

My rare beauty.

I meant to make this encouraging, and I hope hearing some actual experiences from a mom will be helpful to you even though it’s not all good news. Having my daughter be born with MDS was not my desire but I love her with all my heart, as does her daddy. Our goal is to give her the best life possible for as long as she is with us so that someday when we meet in heaven , we will be able to look her in the eye and hopefully she will tell us that we did a good job. She is a blessing! God’s grace has been not just sufficient, but overflowing in our lives since our daughter was born.

PS. I respect the parents personal choice on what to do and not do as far as medical interventions to prolong their child’s life. God bless you as you enter your new journey. Feel free to contact me with questions at blueskiesandgreenpasturesblog@gmail.com

5 comments

  1. PK, I really wish WP would put in a LOVE button to express appreciation for posts like this. Some very dear friends had their sixth baby, born with Trimsomy-18, a duplication of the 18th chromosome that usually results in death at or shortly after birth. But Wylie, their daughter just celebrated her 2nd birthday as they and the medical staff at in Peds at UK Hospital have filled her life with love and appreciation for Father’s gift of life!
    Hope Always, a book by Dr. Matthew Sleeth, points out that whenever the devil is present, death is sure to follow. Wherever the Lord of Life, Jesus, is present LIFE flows and increases.
    Even when death appears to win, of course, for the Christ-follower, LIFE is still the final victor because Jesus conquered death once and for all!
    love and daily prayers,
    c.a.
    https://www.christianbook.com/hope-always-force-life-culture-suicide/matthew-sleeth/9781496450012/pd/450015
    I have no affiliation with this book.

    • Thank you for sharing that miracle story about your friends’ baby! I posted this because you made me realize that I had not written a specific post like this. Thought I had ! I pray that it brings hope to people. We have been blessed with great nurses and a few good doctors . 😊 And Grace is loved by people from all around. I know God has a purpose for her life. 🙏I need to get that book .

  2. Paula, you AMAZE me! Grace is blessed to have you for her mom, and I am blessed to have you as friend.
    Love you,
    Missy
    MARANATHA

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