Sickness is frightening!
If you have been tracking along with our journey you know that Mila is delayed but healthy. That she has checked out fine but there are underlying issues that we have to look out for. That she has a Chiari 1 Malformation but it is too risky to have surgery until medically necessary. That her lungs and O2 levels check out fine but that she has stridor consistently. That her heart is healthy but her aorta is smaller. There are a lot of "buts" that have become the norm of this syndrome. In the last 2 weeks Mila was really sick with a virus BUT is it more?
Every new parent hears sounds of their newborn that make them think something is wrong. They hear a gurgle or a cough and they question to each other if this warrants a trip to the ER or the on-call physicians. Sometimes the sound is scary enough that you act because you can't not... this is your child. This week Mila has been sick with a virus and she has been sleeping the days away. She has lost 2 pounds sending her back to her 2 year-old check-in weight and she has been uncharacteristically needy. This week as Mila sleeps she has cough attacks that would send any parent rushing to the ER. She coughs deeply and gasps for air with each breadth. Michelle and I lay in bed, awake, silently listening and praying that this isn't the attack that starts a cycle of hospital rooms. Most kids with Myhre Syndrome develop what is called a tracheal stenosis. Imagine this... Your special needs daughter, who you are afraid to get sick, develops a cough that seems like she can't breath, all the while she may have an underlying stenosis and discussed narrow airway. She searches for air as she coughs, barking for clearance of her airway. We can't not check on this. We can't assume this is just a normal cold. What if this is dangerous? What if she is not getting enough oxygen? What if this is related to Myhre? What if this is acute and we should act? But what if what is necessary to act (a scope of her airway) causes more harm than good? A million thoughts rush through our minds as her sudden stirring pulls us from sleep and into worry for her safety. We get another appointment to check again if she is OK. More things to watch and another reassuring doctor says she will be fine. BUT, will she??? She has a rare disease, and we know, that at some point, she will not be fine. A checkup will lead to a scan, or a surgery or worse. What our little girl has is anything but... OK.
Rare diseases are syndromes / illnesses with an underlying unknown. The rarity of something like Myhre syndrome makes all things hard to understand. So when your loved one develops a cough, it can mean so much more. This is why we formed the Myhre Syndrome Foundation. We want to understand the basic science behind this genetic disorder so we can inform the frightened family members. When we do that we can use the foundation of clinical understanding to fund research, all the while, supporting families as a Patient Advocate for them in the fight for Rare Diseases. This is how we bring Hope. Looking at Mila and feeling the love I have for her, I believe anything to be possible. She gives me hope! Others in this fight need the same hope because they too are scared with each breath.
www.myhresyndrome.org
Every new parent hears sounds of their newborn that make them think something is wrong. They hear a gurgle or a cough and they question to each other if this warrants a trip to the ER or the on-call physicians. Sometimes the sound is scary enough that you act because you can't not... this is your child. This week Mila has been sick with a virus and she has been sleeping the days away. She has lost 2 pounds sending her back to her 2 year-old check-in weight and she has been uncharacteristically needy. This week as Mila sleeps she has cough attacks that would send any parent rushing to the ER. She coughs deeply and gasps for air with each breadth. Michelle and I lay in bed, awake, silently listening and praying that this isn't the attack that starts a cycle of hospital rooms. Most kids with Myhre Syndrome develop what is called a tracheal stenosis. Imagine this... Your special needs daughter, who you are afraid to get sick, develops a cough that seems like she can't breath, all the while she may have an underlying stenosis and discussed narrow airway. She searches for air as she coughs, barking for clearance of her airway. We can't not check on this. We can't assume this is just a normal cold. What if this is dangerous? What if she is not getting enough oxygen? What if this is related to Myhre? What if this is acute and we should act? But what if what is necessary to act (a scope of her airway) causes more harm than good? A million thoughts rush through our minds as her sudden stirring pulls us from sleep and into worry for her safety. We get another appointment to check again if she is OK. More things to watch and another reassuring doctor says she will be fine. BUT, will she??? She has a rare disease, and we know, that at some point, she will not be fine. A checkup will lead to a scan, or a surgery or worse. What our little girl has is anything but... OK.
Rare diseases are syndromes / illnesses with an underlying unknown. The rarity of something like Myhre syndrome makes all things hard to understand. So when your loved one develops a cough, it can mean so much more. This is why we formed the Myhre Syndrome Foundation. We want to understand the basic science behind this genetic disorder so we can inform the frightened family members. When we do that we can use the foundation of clinical understanding to fund research, all the while, supporting families as a Patient Advocate for them in the fight for Rare Diseases. This is how we bring Hope. Looking at Mila and feeling the love I have for her, I believe anything to be possible. She gives me hope! Others in this fight need the same hope because they too are scared with each breath.
www.myhresyndrome.org
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