Madeline lives with her mum Jacqueline and dad Scott in Philadelphia. Below Jacqueline tells the Information Point all about Madeline.
What form of CNM/MTM does Madeline have?
My three year old daughter, Madeline, has RYR1-RM (or RYR1-related myopathy). This is an autosomal recessive genetic disorder that is caused by RYR1 gene mutations. The label of CNM resulted from Maddie’s recent muscle biopsy that showed ‘numerous muscle fibers with internally placed nuclei’. However, the muscle biopsy also showed other muscle fiber irregularities, like ‘ill-defined cores’. So, I guess she doesn’t fit perfectly into any one category. She had the label of central core disease prior to muscle biopsy as well.
When did Madeline first get diagnosed?
We got our genetic diagnosis when Maddie was 10 months old. Maddie was born hypotonic (or floppy) and within 12 hours of life she was in neonatal intensive care for feeding difficulties. She has oral-motor hypotonia caused by the disease. This started our search for a diagnosis.
What symptoms prompted Madeline’s diagnosis?
Eventually at about three months old, neurologists had determined that Maddie’s issue was neuromuscular in nature and we were referred to Dr. Carsten Bonnemann. He was the first to notice that Maddie had ophthalmoplegia (some of her eye muscles are paralyzed) and this with her low muscle tone and gross motor weakness gave him some clues.
How long did it take to get Madeline’s diagnosis?
It was exactly 10 months until we got a genetic confirmation of Madeline’s neuromuscular disease. I remember being so relieved to get a diagnosis, but so scared at how rare it was and how little seemed to be known about treatment.
How was Madeline diagnosed?
Genetics – Maddie has recessive mutation of the RYR1 gene. Scott and I are both carriers of one mutated copy of RYR1. It’s referred to as compound heterozygosity because Scott and I don’t have the same mutation.
What impact did the diagnosis have on you?
As a mother, the diagnosis was a wake up call that there would not be a clear path from diagnosis to treatment and then to a cure. I had held out hope that once we got our diagnosis, the medical community would know how to solve the problem. I had to face the fact that the science and care was just emerging in this rare neuromuscular disease. It is shocking at first.
Have you explained CNM/MTM to family members and what was their reaction?
We always try to keep an open communication with our family about Maddie’s diagnosis and its implications. However, we are still learning and understanding ourselves. We don’t always have answers, but we do our best.
Our family has been hugely supportive and accepting. They couldn’t love Maddie more. They help us so much in our day to day and they even champion our efforts to raise money for rare neuromuscular disease. One of Maddie’s older cousins even asked for donations for our cause for his birthday last year. We really couldn’t be more supported.
What implications do you think it has it had on your family?
I think it has made our family stronger. I guess I can only speak for myself, but having Maddie has made my capacity for love, understanding and patience so much greater. We move slower, appreciate the small things and have much more joy. This isn’t to say there are not times when I am sad, angry or overwhelmed at the challenges. It can be frustrating to watch Maddie fall, struggle to walk, or climb a few stairs. But when we make the focus on Maddie’s strengths, how smart she is and how much fun she is to be around, it makes the diagnosis seem like a smaller thing.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
Scott and I have postponed expanding our family to focus on Maddie, but we are considering pre-implantation genetic diagnosis in the future.
Do you have advice for people who are looking for a diagnosis?
Be persistent. Find a neuromuscular program or clinic at a major medical center and if you can’t travel there, contact them by email or phone. They may be able to look at medical records that are faxed or emailed.
What are Madeline’s current symptoms?
Madeline walks slowly and fatigues easily. She has a wide gait and hyperlordosis, meaning her belly sticks out and her back arches when she walks. Maddie can’t walk long distances, she can’t run or jump. Maddie climbs up a couple of stairs with two hands on the railing, pulling herself up. She has just recently started to get up from the floor by herself using a Gower’s type maneuver, but usually she has to pull up on someone or something. She falls unexpectedly and, thankfully, less frequently than she used to. Maddie eats and chews slowly and it takes about an hour to feed her a meal. She was recently diagnosed with central and obstructive sleep apnea and is starting Bi-Pap at night.
What treatment is Madeline having or has she had?
Maddie gets physical and occupational therapy at school twice a week, as well as private physical therapy weekly. We are introducing Bi-Pap and the CoughAssist for respiratory support. Maddie is followed by a feeding specialist for her feeding/chewing/weight gain issues. Also, Maddie had an eye patching regimen for the first couple years of her life for amblyopia and she had surgery for eye alignment last July.
How did you find a doctor?
We are so lucky to be 20 minutes away from a major children’s hospital (CHOP-Children’s Hospital of Philadelphia), so I have been referred to many of Maddie’s specialists by our neuromuscular treatment team there. However, in a few cases these referral haven’t been a good fit for my family and so I sought out the advice of other parents (some with children who have congenital myopathy and some who don’t).
What has been your experience of the healthcare system and healthcare professionals?
I think the healthcare system works best for strong patient advocates. Getting what Madeline needs in a timely manner often requires persistence and frequent follow up on my part. Waiting around for an unreasonable amount of time can be the norm unless good clear communication is established with the medical team.
I make it a priority to find a healthcare provider that is willing to communicate by email, phone, or even cell phone. There are times when we have been on waiting lists for months, usually it helps to have the referring doctor call to expedite the process, or simply look elsewhere for the treatment if it was available sooner by an equally good provider. I have changed Maddie’s doctors on more than one occasion. We found a great fit right away with her pediatrician and neuromuscular specialist, but we had more trouble finding a feeding specialist, pulmonologist and especially an ophthalmologist.
I have found that I am not comfortable with physicians who are overly paternalistic. I tend to have strong opinions about which treatments are appropriate for Madeline and if I voice a concern, I expect an honest thoughtful discussion about it. If this doesn’t happen, I just look for another healthcare provider who is willing to take my opinion, as Maddie’s mother, seriously. Many treatments have a risk/benefit ratio and no one but our family can make the decision about what risks are worth taking when it comes to Maddie’s life and health.
Has your diagnosis had any health insurance implications for you?
Having a child with CNM forces you to think about healthcare more, the co-pays, the benefit limits etc. Before Maddie, I rarely accessed the healthcare system and now we tend to max out our benefits especially in areas like physical therapy. When I changed jobs to spend more time with Maddie, we were at risk for a gap in healthcare and that prospect was very scary. We had to spend extra money to COBRA my healthcare benefits over that time, but we just couldn’t take any chances. A simple upper respiratory illness ended in a three day hospital stay for Maddie last January. Going without healthcare for even a month isn’t an option.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
After Maddie was just born and we were still seeking a diagnosis, I would blog about our medical and emotional journey on a MDA website. I received several amazing emails from individuals that felt Maddie sounded like them as a child. Their emails were filled with their accomplishments in life and the ways they rose above their challenges with muscle disease to form relationships, love their families and find their passion for life. One man in particular told me his parents never focused on his diagnosis. He was just another person in the family with his own unique strengths and weaknesses. I hope to approach Maddie’s life this way. To treat her as an individual with her own distinctive set of strengths and weaknesses and to never let one single thing or diagnosis define her.
What is Madeline’s favourite book / film / music?
Maddie says her favorite movie is ‘Brave’, her favorite music is ‘kids music’ and her favorite songs are ‘Old MacDonald had a Farm’ and ‘Firework’ by Katy Perry. She loves to go and get new books at the library almost every week with her Nana, but she doesn’t have a favorite book right now.
What dies Maddie want to be when she is older?
Madie wants to be a cook or a doctor right now.
What’s the best advice you’ve been given?
We have no idea what the future holds, so enjoy the moment.