Over the last few years there have been big questions about how, if at all, Complex 1 deficiency is affecting Rosie. We were told that it was not at a high enough level to cause the deterioration of Rosie’s major organs, however we are now seeing other things happen to Rosie’s body that are extremely worrying and not seen by others in the private Nemaline Myopathy Facebook community.
Rosie has lost complete use of her left arm and hand. It started becoming much weaker two years ago to the point where it no longer works at all now except for a tiny twitch she can elicit in her thumb. Even more of a worry is she’s now losing function in her right arm and hand now too. We’ve been trying to understand if this is related to Complex 1.
Rosie has been of interest to the medical world as there are few reported cases of children born with both Nemaline Rod Myopathy and Complex 1 deficiency. Her case has been presented at medical conferences around Europe and in a strangely weird way I’m super proud that she’s now become a part of medical journal history!
Available online at ScienceDirect, there are six pages dedicated to Rosie’s medical history featured in the March 2020 edition, Volume 3, Issue 3.
The case report titled ‘A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex 1 deficiency’ is featured on pages 159 – 164.
This case report provides an introduction to Nemaline Myopathy and methodology – giving a brief description about my pregnancy, birth and Rosie’s presentation shortly after birth. It also explores the investigations conducted to eliminate and finally confirm her diagnosis which included: metabolic investigations, brain magnetic resonance imaging, genetic screening, echocardiography, electromyography and nerve conduction studies.
Rosie had a skeletal muscle biopsy two months before her first birthday and it was the results from this that confirmed her diagnosis.
I remember seeing the large scar on the top of her right leg for the first time when she came out of theatre – another war wound added to her precious body. The tears flowed as I gazed at her perfect body now scarred and bruised. The scar was so much bigger than Iain and I had anticipated, but the doctors explained they had to go in further than they had expected in order to get a large enough muscle sample.
A picture of Rosie’s muscle biopsy under a microscope can be seen in the case report. It’s these rod-shaped structures (seen in figure 2D) that give Nemaline Rod Myopathy its name.
Rosie is now six years old and her scar has healed incredibly well from the muscle biopsy. This was taken in early May 2020.
The report goes on to discuss why she is of interest and how there is still some genetic profiling needed around how these two conditions link and research into how they function together.
If you’d like to read the report, please get in touch!
Rosie’s body now – May 2020
Rosie’s body continues to get bigger and heavier and she just can’t support herself the way she used to when she was little. Her spine is curving more by the day, she has bilateral hip dislocation, contractures of her fingers on her left hand side, painful contractures of both knees and progressive equinovarus of both feet. As I mentioned, losing the use of her left arm and hand only for the right to now start losing function pains me beyond words.
Great Ormond Street Hospital
The team at Bristol Children’s Hospital is exceptional and truly supportive. They’ve always been there for us when we need them and always spend time with us when Rosie has been admitted to hospital.
On our last routine visit we asked our neuromuscular consultant if there was anyone else we could speak to, just to get a second opinion and any further insight given it’s this combination of both conditions that make her unique. He was happy to refer us to Great Ormond Street Hospital (GOSH) and we had our first call with one of their neuromuscular consultants last week.
The neuromuscular consultant at GOSH said that he has seen children lose the use of their arms and hands and so feels that it is in-keeping with Nemaline Myopathy and not down to Complex 1 deficiency. In his opinion (which concurs with the information from Bristol) we should still be ignoring Complex 1 (phew!).
It’s good to know but I feel these next few years will be pretty testing; spinal surgery could be imminent, learning how to navigate life when potentially both arms and hands don’t work and we’re also in talks with Bristol Children’s Hospital about cutting Rosie’s hamstrings to lengthen them whilst at the same time performing an arthrogram (x-ray where a dye is injected to give clarity to the image) of her hips to see what’s going on with them.
Will keep you posted!