No time to breathe…

20161212_090119It has been too long since I have had the time to just sit and write. Finally on this wonderful snowy day I have the time to do so.
Since my last post I have been surrounded with nothing but medical appointments, scares and holding my breath. The funny thing is this is not about my CF at all. You would think that one family should only be allowed one sick/disabled person per house hold. I guess this is not the case.
You don’t know how scary it is when your baby is not quite right. Not meeting mile stones or just always in pain. Our first red flag should have been when my beautiful daughter would only eat orange for a week, or would only be carried a certain way. She would cry so hard in the car that she would hyperventilate. I thought she would outgrow this and just loved her for who she was. As she grew it did not get easier, other issues rose and my little girl was always complaining of muscle pains. Also she was always on the go, even with 104 fevers she was on high speed. We took her to the Doctor with this fever and the doctor said “she looks fine” took her temperature and took back her fine comment. She had a bad case of strep. She was my feisty red head, and that is all I thought for a long time.
Well all this was going on I gave birth to my son. His first red flag was birth, when we were in the hospital for three nights. My son decided to come out while I was not fully dilated. The nurses did not have time to set anything up, after a night of contractions he came out to fast. He was very bruised. The nurses told us that he was fine though. So after three nights we were sent home. He had some problems latching and seemed to sleep a lot, like all the time. I had to wake him to make sure he would eat. At our two week appointment we were told his head was on the small size, so he needed an MRI and X-ray. Just to make sure he was ok. He was three months when we got the results and everything seemed alright. I knew in my heart something was not alright. He would gasp in his sleep and I would have to touch him or pick him up and then his breathing would return to normal. I was on guard with him, ALWAYS.
He was about 6-9 months when I was becoming even more concerned. He could not hold himself up, or even turn over in his crib. I decided we needed a specialist. Hubby and I brought him to a well known childrens hospital. The nurse there told us, yes something was going on and he needed to be followed, and probably would need to go to therapy. They described him as having hypotonia. About a month after that we got a call and started physical and occupational therapy. We also saw a pediatrician that agreed with me that something was off and we needed to see a neurologist. I also noticed his eyes were not focusing, so we were also referred to an ophthalmologist. Turned out that on top of his low muscle tone he also had lazy eye. So we had to patch his eye everyday for 2hrs. Thus started our monthly eye appointments and weekly therapy appointments.
We just took it day by day, loving our wonderful children, and working around or with their needs. My superman was 32 months when he was watching Pokémon and all of a sudden he stood up and started walking and saying Pikachu. I cried and laughed at the same time. From then on he should stand and walk when he had something to hold on to. He was given a walker and special footwear to help him. When my boy turned three he had another MRI. The results blew us away. His brain had so much scarring. His neurologist was even shocked. We were told he has Cerebral Palsy and nobody would be able to tell us what he would be able to do. At the same time as this was, my daughter was having her own obstacles. Her sensory input was in overdrive and sounds and smells would send her running. She was either extremely happy or extremely agitated. I took her to the pediatrician and explained everything. Everyone just thought she was hyperactive. I knew deep down it was more. She had to taste everything, even what shouldn’t be tasted. She would have urges and just do them; she had/has no impulse control. We finally started seeing a behaviour specialist, and he was and is very supportive. He noticed she was shrugging a lot during one session and asked that I watch for more consistent movements, or repetitive movements or noises. It took me 2 days. I was shocked. She had whole leg spazums, constant shrugging, also no voice control. So we had her hearing and eyesight tested, nothing was out of the ordinary. She did need glasses but so did hubby so we thought nothing of that. After two weeks of video evidence and keeping track, she was diagnosed with tourettes. The Dr also wanted blood test cause she was always getting sick. Her white blood cells were high so he thought maybe allergies. She was tested and guess what, no allergies. To this day and a couple more blood tests her white cells are still high. She started getting dizzy and even blacking out a few times. She also gets this sudden pain in the back of her skull that cripples her. She tells us after the pain it feels like hot water is running through that spot and down her neck. Her muscles are still always sore and she will cry in pain some nights and mornings. She has only slept through a handful of nights since birth, waking with terrible nightmares or worries. I wanted her checked for an inherited muscle disease that runs in hubbys family. It is called Charcot-Marie Tooth. The Dr agreed and sent us to a genetic counsellor, which we already saw due to our son. The genetic counsellor also wanted to test the children for CF just to rule that out. Well we got their results at the same time and surprising us, our son had no abnormalities. However our firecracker had a duplication of chromosome 17. This explained the behaviour issues… Also the cf sweat test came back negative for our son but our daughter had a high salt level, so more blood tests for our baby girl. Turns out she is a carrier for CF but does not have it.
Well this Momma bears mind started putting everything together, and HOLY CRAP… all my children’s issues are related to the 17th Chromosome. Hubby and I got our blood taken to see where this was inherited from (which we already knew) surprise it was Hubby, we got his results last week and he indeed has the same as our daughter. About 5months ago hubby had to go on sick leave, he started suffering panic attacks, joint pains, migraines, and mood swings, also loosing feeling in his hands and lower legs. A year ago he woke up one morning not able to walk, it took him a few days to be able to move and he has not been the same since. Our family doctor did a bunch of blood tests and ordered an MRI and referred him to a Dr with some knowledge of CMT. His results showed that his Thyroid was REALLY overactive. So he was given treatment for this and diagnosed with hasimoto-thyroiditis. This helped with weight loss but not his other issues. So now we are waiting for Hubbys CMT results and the upcoming genetics appointments…
This is why I have not been blogging; my life has been surrounded by tests appointments and struggles.
I now have to go and carry my son down the stairs, give my hubby his pills and make sure my daughter is not climbing the curtains, and then once everyone is fed and had their meds, I will sit and have my three masks. Would I change anything…? NOPE…
These issues make us who we are. We are the closest dysfunctional family I know. We do things unconventional but always together. Hold your family close people, cherish every moment. Love each other for your differences. Oh and most of all take some time to just breathe…


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