Logan lives with his mum Kathleen and dad Brian in North Carolina. Below Kathleen tells Our World all about Logan.
Logan Forbis was born on February 6th, 2012 at Women’s Hospital of Greensboro with complications. He was born with breathing issues, not able to swallow and low muscle tone, which caused him to have very little movement. He was at Women’s hospital NICU for a week, where they ran several blood test, scans and he was on a CPAP breathing machine. At one week old, he was transferred to UNC Children’s Hospital NICU for further testing. Logan underwent several blood tests, MRI, Electrical Muscle Stimulation test and a muscle biopsy. Logan had many ups and downs and was on and off the ventilator four times. After seven weeks of waiting, Logan was diagnosed with X-linked myotubular myopathy.
Once we had a diagnosis we decided it was in Logan’s best interest to have a gastrostomy tube in place so we would have a way to feed him. Logan came home on April 16 and has done well at home. He has a feeding tube pump, pulse oximeter, suction machine and oxygen as needed. He needs physical therapy, occupational therapy and speech therapy. His movements have improved since birth, but he has no head control and has to have his head tilted so he doesn’t choke. On August 6th, 2012, Logan was fighting pneumonia and almost lost his battle. He was on his way to the pediatricians office for a check up when he all of a sudden went downhill fast. Logan was intubated and never came off the ventilator. On August 24th, Logan had a trach placed. He came home once again on September 19th and is totally vent dependent. But, since being trached, it has allowed Logan to use his energy to do other things, rather than working so hard to breathe. We are so impressed with how smart Logan is. He tries his hardest to do the things a ‘normal’ baby would do, but his little body won’t allow him to. He is a true blessing, and teaches us something new everyday.
What form of CNM/MTM does Logan have?
Logan has x-linked myotubular myopathy.
When did you first get diagnosed?
He was diagnosed at seven weeks old.
What symptoms prompted the diagnosis?
Hypotonia, high arched pallet, and no gag reflex.
How long did it take to get Logan’s diagnosis?
How was Logan diagnosed?
Muscle biopsy and blood work.
What impact did the diagnosis have on you?
It changed our world. The prognosis varies from person to person, so we didn’t know how long we would have with Logan, We took him home with a gtube, feeding pump, suction, pulse ox, oxygen as needed, and prayed a LOT! We always knew there would be a chance that he would have to be trached, but we wanted to give him a chance. There were a few times we had to call 911 because he got choked up on secretions, but would recover pretty quick, other than that, we took him out as much as we could. He was doing great at home until he caught pneumonia in late July 2012, and after three failed extubations, we decided to trach him. He is at home now, and has so much more energy to do other things besides work to breathe.
Have you explained CNM/MTM to family members and what was their reaction?
At first everyone was devastated. We had no idea what to expect, but as time goes on, it gets easier for everyone. We cherish every moment we have with our sweet boy.
What implications do you think it has it had on your family?
If anything, it has made us stronger. It brought us all closer together, and our community rallied around us and gave us so much support. As each day went by, we just held our heads up high and learned how to do everything possible to care for him, so we could bring him home.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
I had genetic testing done and I am not a carrier, but we know that there is still a small chance it could happen again. I want to talk with a genetics counselor, because we do want more kids one day.
Do you have advice for people who are looking for a diagnosis?
Be patient. It takes a while to get the results. And don’t go looking on the internet too much because there are websites that are not current, and some of the things you see can be scary. But, there are also really good websites and support groups to ask questions on.
What are Logan’s current symptoms?
Logan still has significant hypotonia, but can move all extremities and we are working on trunk and head control, he has respiratory insufficiency, but is trached, he has a feeding tube, pectus carnivitum and undecended testicles.
What treatment is Logan having?
We did a Mestinon trial when Logan was four months old and it didn’t go over to well because he was accidentally overdosed. But we did notice an increase in movement when he was on it. It is something we would like to consider once he turns one.
How did you find a doctor?
Logan was at UNC Children’s hospital, which is one of the best hospitals in North Carolina for specialists. We found a fantastic genetics doctor, pulmonologist, and ENT doctor.
What has been your experience of the healthcare system and healthcare professionals?
A lot of doctors in our area have never heard of MTM. So, it was a challenge for everyone to learn about MTM and the next steps to take.
Has your diagnosis had any health insurance implications for you?
Logan has been lucky to have good insurance and the help of the government.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
Be patient, and work with your child everyday and get those muscles moving!
What are Logan’s favourite things to do?
Logan LOVES the Mickey Mouse Clubhouse on the Disney channel, and loves anything that lights up and makes sounds.
What has been the hardest thing about the transition home?
I would have to say the private duty nursing. It is hard having no privacy at times and having someone else handling our child, but it’s also nice to have the help. We have definitely gotten attached to a few of our nurses.
Who do you think has most influenced you in your life and why?
Logan has influenced us in ways we could never imagine! He has given us a whole new outlook on life. Not only has he influenced us, but he has also influenced our community to support those who need it.
Who would you most like to have dinner with (living or dead)?
Alison and Paul Frase.
What’s the best advice you’ve been given?
Be your child’s advocate! And, don’t let anyone tell you how to care for your child. You know him best.