Last Thursday, my youngest, who is 8 months old, had a consultation with a genetics because he has feeding difficulties and airway difficulties. Quick back story:he was diagnosed with failure to thrive at about 3 weeks. fast forward, he has a floppy airway, aspirates on thin liquids so is primarily fed through a g tube. he does still breastfeed some and has been a champ with puree and honey-thick liquid.
anyway, so genetics comes back after his physical exam and wants to test him for #NoonanSyndrome . ok, great... what is that? well the geneticist said that she thought it could be this because: he has a lazy L eye, is small for his age, had a PDA in his heart and apparently has "undescended testicles"?? well I didnt think babies had testicles that had descended yet so that's news to me. she also thought he had slight low muscle tone .
I'm freaking out and am in a terrible way today because I cant let go of the thought of him being developmentally disabled. this literally scares the crap out of me. he has hit all his baby milestones but has a little trunk weakness- so is a bit sslouch-y. but he is really close to crawling and lives to be on all 4s rocking back and forth.
I need some perspective- I need some hindsight from others who have been in the thick of chronic illness with their babies, to know that they CAN turn out smart and funny and "normal". while normal may look a little different are we going to be ok? am I going to be ok? is he going to be ok? suddenly I am so crippled by fear of bad things happening that I think it might help to hear stories of happiness, of recovery and of kiddos leading a darn near regular life.
Over the last year I have really pushed my acting career but also doing things for myself.
If I could pen a letter back to my teenage self I would say that life gets better. That the people that didn’t believe in you or bullied you will make you #Stronger . And that maybe you’ll become an inspiration to other people. I struggled academically at school due to the learning difficulties both my conditions have given me one is a brain injury from the lack of oxygen at birth (#PeriventricularLeukomalacia ) and the other one is due to having #NoonanSyndrome where we don’t send the right signals throughout our bodies. All I want to say is the despite the #Anxiety and #Depression you will be amazing and be successful in your own unique way.
I always knew I was different. I couldn’t run and play as hard as my friends. I couldn’t see without my thick glasses and I had bruises and scratches everywhere due to constantly falling and running into things. But, it wasn’t until I started school that I began to understand what being different really meant.
I still vividly remember my first day in grade 1. My teacher, one of those strict old women who’d never married and should have retired years ago, did not like me. I felt it from that very first day. She later told my Mom, during the first parent teacher interview that I wasn’t able to complete my schoolwork. She had assumed, because of the thick glasses and my unique ‘Noonan’ look, that I was developmentally delayed. Her response was to ignore me and focus on the children who she thought could learn.
When my mother told me this, along with giving me the large pile of schoolwork that she insisted the teacher give her so I could catch up at home, I was furious. I channeled that anger and finished all the work I needed to make up in two weeks. I quickly became one of the smart kids. I never had another teacher doubt my intellectual ability. I went on to complete high school and two university degrees.
My social life was another story. Like most people who are seen as different, I was teased mercilessly. I still to this day remember the hurtful things people, mostly boys, said to me. Hurtful words are dangerous weapons and the injury they cause are very difficult to overcome. The message I got was clear, I wasn’t enough. I was abnormal. I didn’t belong.
These messages are reinforced through the medical community and its jargon. I have a chromosomal anomaly (meaning I’m not normal) and genetic mutations (mutation is not a positive word). Doctors have pointed out how different I am by listing the physical characteristics that I possess which aren’t normal.
I am an adult now, a wife and mother. I had 20 years of a rewarding career in which I made a difference in many lives. I was an athlete. I could run, bike and kayak. I wasn’t the fastest but I was determined. It was during this time that I met my husband. He fell in love with my spunk and determination. Life was really good and I would genuinely say I was confident with who I was.
Then, 5 years ago my health took a significant downturn. I had to have two surgeries that have left me with chronic pain and mobility issues. I had to give up my career. I have neuropathy and frequent headaches, as well as IBS. The doctors have related all this back to noonansyndrome. Slowly, like a balloon losing its air, my self confidence that I worked so hard to build has been dissipating. I have SocialAnxiety and often avoid social situations. My inner voice has become negative and self abusive. When I speak to people, aside from close friends or family, I’m usually thinking about how they are probably wondering what’s wrong with me or feeling sorry for me.
I am struggling with how to get my self confidence back. How do I reinvent myself within the confines of my physical limitations? How do I live each day with pain and disability and not allow it to bring me down? How do I stop feeling so lonely when most people my age are working and living full lives? Even my husband and children leave for work and school each day while I stay home alone. How do I stop feeling guilty because I can’t do the things with my children that most moms can?
I often feel like giving up but that’s not who I am I will not let my medical issues ruin me. We are all so much more than our diagnosis. I am a great mom and a kind and caring person. My struggles in life have enabled me to help others who are struggling and it has given me a wicked sense of humour (laugh at your troubles and you’ll never stop laughing). Giving up my career, as difficult as it was, allowed me to spend more time with my children. These are the positives that came from my struggles and I realize that, without them, I wouldn’t be the person I am today.
I have courage, determination and tenacity. I will get through this. It will be hard but hard, but I can and have done hard things. I am a survivor! #noonansyndrome #RareDisease #IBS #Anxiety #SocialAnxiety
Since I was born. I’ve had appointments, tests, operations, splints etc. But it took me till I was 27 almost 28 to get my diagnosis. But since then more things that I’ve had wrong with me have been discovered or at least been given a name. Today after being worried that I was getting hearing loss I’ve instead been diagnosed with #AuditoryProcessingDisorder looking at the symptoms I’ve had this all my life and noticed that again it impacted a lot on my education but we never brought it up, nor did my school when I was going to see specialists. I already feel that by not getting my #NoonanSyndrome diagnosis as a child impacted me growing up a bit as I would have hopefully had more support in some areas but with having this it’s made it worse. I work as a supply teacher and sometimes the processing of the sound the classes make is too much stresses me out and I can’t concentrate, fortunately now that I know I have it, I can use the summer to find ways of managing it and coping. This is something that had gotten worse over the last year. It also adds to my #ChronicFatigue as I’m over my working my brain to process information caused by the sound. I’m just wondering now at 30 how many more things will be discovered that should have been when I was younger.
Btw I in no doubt feel like I have been failed by the NHS the treatment I’ve had over the years have been amazing
Three and a half months ago I had surgery on my ankle to replace a ruptured tendon and realign the ankle back into place from an injury I sustained two years ago. Due to misdiagnosis at the start and drs not listening to me ( I know my body better than anyone) I finally got the treatment I needed. Which was surgery, it was during my appointments with my consultant that he also noticed that there was a way of fixing the way I walk but also the deformity that my foot has been under through the way I walk. Due to my short Achilles’ tendon I walk on the side of my feet and tiptoes. My balance is also affected as well and I have a lot of chronic pain and fatigue so there are day’s when I really struggle to get about.
I’m able to fully weightbare now and there’s days I don’t need my crutch. I still have a limp and the pain in my hips can be painful from the sciatica.
The only issue is, I feel that I need my crutch to prove that I have a disability when I park in the blue badge bays, priority seating on transport to the assistance through the airport which I was fortunate to use a few weeks ago and will use it again. But unfortunately I’m scared , because I feel without it people will look and judge me. When will the anxiety for me to prove or not feel judge go away?
Soon I’ll become dependent on the crutch which I don’t want either. I’m already happy in myself that I can now live a more relaxed life when it comes to work. And that I can finally say no to that extra overtime and not feel guilty about missing work for my various hospital appointments . But will I finally be happy in myself to ditch the crutch except on the really bad days?
I have two conditions both can affect me the same and differently.
I suffer with Noonan Syndrome I also have Periventricular Leukomalacia. The Noonan Syndrome affects my heart, muscles, stature, balance, cognitive issues, anxiety, depression I have chronic pain and fatigue with it also I bruise and bleed easily with it also. The PVL affects my legs I have spasticity, tight muscles and my Achilles tendons are very short.
So when people see my weekly pill box, that has each day and the four times a day to take each medication, they are often shocked by how much they see. I get the usual comments 'ohh I bet your rattling after you take that lot' or thats a lot to be taking a such a young age and my favourite ' have you ever tried to cut down on what your taking. The answer to those are no I'm not rattling, yes it is a lot to be taking at 29 and yes I have tried to cut down and guess what its made my condition worse.
It's not fun having to take all this medication, and I must admit I have on good days not taken as much because I feel fine, however a day or two later the feeling hits me like I've been hit by a ton of bricks and then I'm dragging them through the mud. I was fortunate when I was younger that I didn't need to take as much medication, but as I get older this will either stay the same way or it will increase. Either way it is a part of me now. And that I use it as a reminder to people that without this medication, I wouldn't be able to do and achieve half the things I'm able to do because of them.