The story of Blair

My two little superhero’s, 

My second daughter Maddee was born in January 2012, she was a perfect tiny 5 and half pound and 44cm  she fit in his sisters dolls clothes. Her sister and I were completely in love and our first six weeks were perfect. However at 6 weeks Maddee got a cold 2 days later she was in hospital with pneumonia she spend 5 days in hospital. Two weeks later she was back with pneumonia again we didn’t know it then but this was going to be our life for the next 5 years every 3 to 4 weeks she was sick and every second infection would result in pneumonia and being in hospital for a few days on IV antibiotics. At 7 months she was diagnosed as failure to thrive we were sent to her pediartrican which started the ball of a number of diagnoses. The first I asked her to be tested for were immune deficiency IGG2 as my brother had it as a child. Well she not only had an IGG2 deficiency she also had IGG1 and IGA and her MBL was 0. Along with that I asked for testing her for the same bleeding disorder me, her sister, my mom and brother have von willabrans brans she had that too. She was put on prophaltic antiboditcs every day which really didn’t help much and she had her first set of grommets at 8 months. From 8 months till just after her 4th birthday Maddee took a small dose of antibiotics every day and every 3 to 4 weeks we spend 3 nights in the children’s hospital with pneumonia on IV antibiotics. When she was 3 she got influenza which resulted in her having a collapsed lung, she has had the flu 4 times since then. Whooping cough twice and the measles twice. At 4 Maddee levels dropped even lower which resulted in her been diagnosed with common variable immune deficiency this was actually a positive as it meant she was finally elliable to have IVIG which is a antibodies replacement therapy. Maddee had her first infusion 4 years to the day that she was hospitalised at 6 weeks. She is now almost 8 she has scar tissue in her lungs from all the infections that it will need to be removed when she is older. She has her infusion every 3 weeks she only had pneumonia twice this year. On top of all that at 3 Maddee was diagnosed with juvenile idiopathic arthritis her knees and ankles are both affected but because of her CVID she can’t have steroids and because of the VWD she can’t have anti inflammatorys her only treatment is steroid injection directly into her joints which she needs every 6 months. Maddee fights against her own body every day and she does it with a smile and so much happiness she is a cheerleader and a swimmer she won’t ever complain she is truly a superhero. 
 

When Maddee was 4 and a half I had her baby brother Graysonn who she adores. Graysonn was delayed developmentally he only sat at 10 months crawled at 13months and walked at 22months at 3.5 years he still doesn’t talk. He was a very miserable baby and already wanted to be held he was my first boy so I just put it down to him being a boy. At 12 months Graysonn had 2 tonic clonic seizures he had knocked his head a few days before so they did a CT to check for injury instead they found serval calcium deposits on his brain. They ran a number of test for syndromes which cause the deposits they all came back negative but he did get diagnosed with the same bleeding disorder just worse than the rest of us. At 13months he had his first set of grommets he didn’t start talking after that like we had hoped. At 14 months he had an EEG and was diagnosed with epilepsy he has absent, focal and tonic clonic seizures he was having around 30 a day and had for some time. A lot of Graysonn little off behaviours were actually focal seizures. At 16 months he had an MRI which showed he also had decreased white matter. More genetic test were done looking for answers on what was happening with my little boy. His epilepsy medication wasn’t helping but because of his age he was restricted on what he could take he was hospitalised 7 times over the next 9 months 3 of those we were in the resus bay in ED his longest seizure was 45 minutes. At 2 he was changed to epilim he went from 30 seizures a day to a few a week. His whole life changed he was Finally a happy, loving sweet little boy. At 3 Graysonn was additionally diagnosed with autism spectrum disorder non-verbal. Graysonn can’t talk but can count to 100 and recognise each number and knows the entire alphabet. He can take apart and rebuild his big sister LEGO, knows his colours and shapes his little mind is amazing how it works so differently to every one else’s. 4 weeks ago Graysonn immune levels were checked and he also has low IGG2 and will need prophylactic antibiotics during winter we still have no answers on what has caused all of this for him and I find it so frustrating not knowing what is to come for him but I do know he is going to change this world some how.