S
shaunanicole
Guest
Hey girls,
I have not been on here in some time but I am going through some "health issues" with Ava and needed to come to you girls for support. Firstly, Ava was born and diagnosed with what was thought to be Multiple Portwine, which is cardiovascular stain that is caused by an enlargement in the capillaries that can cause neurological damage, and I was told her staining had not caused any damage.
Anyways, about 1 month ago she was hospitalized for reoccurring ear infections that progressively got worse and worse. She was placed in Arnold Palmer and they specialize in pediatric care. A team of staff observed her staining and informed me it had to be a misdiagnosis because they were 99.9% sure she did NOT have Multiple Portwine because the coloration was not what Portwine is, the stains change color when she is mad/upset/cold/hot and only birthmarks are known to do this, the stains are not in her veins and are not enlarged capillaries, and so on...
I was happy about this and they told me to see a neurologist to get the misdiagnosis straightened out and to figure out what exactly the staining is - which they told me they strongly believed it was a birthmark. So I brought her to see a neurologist...
He spent an entire hour with me and her and asked question after question. He said based off her several observations he believes she may have a genetic disorder that is due to a defect with the Chromosome R14. His reasonings to sit me down and tell me this were a bit off and everything he brought up to me that was why he was SURE she had this defect had some sort of an explination. I will explain now..
1.) He said her speech is delayed. Well she has fluid in BOTH ears and her eardrums are stiff. This has been going on for 5 months now while I fought with her insurance company to place her with an ENT for tubes. She can't hear properly so of course her speech is affected!! (She gets tubes put in this Wednesday)
2.) She is low tone and just now at the age of 17 months is walking. Well she has loose Achilles tendons (her dad suffered with the same exact problem and wore braces as a child) and her ankles roll when she walks. Because her ankles roll her other muscles in her legs aren't able to strengthen properly...which is why she is low tone. The physical therapist said he is baffled that she is walking at all under the circumstances and told me her hips, spine, and upper extremity muscles are tight, strong, and well developed. She is not physically delayed in any other way, shape, or form. She gets braces to straighten her ankles so that her muscles are aligned properly and can strengthen.
3.) She screams all the time and seems to be "unhappy". OF COURSE SHE IS SCREAMING!! YOU ARE A STRANGER AND SHE DOES NOT KNOW YOU AND SINCE HER 2 DAY HOSPITAL STAY SHE IS PETRIFIED OF DOCTORS. NOT ONLY THIS BUT SHE HAS FLUID BUILD UP IN HER EAR. THE ENT TOLD ME ALL KIDS...ALLLLL KIDSSSS....WITH FLUID IN THEIR EAR SCREAM AND CRY BECAUSE IT PUTS PRESSURE ON THE EAR DRUM AND IT IS PAINFUL, THEY CAN'T HEAR PROPERLY, AND IT IS AGITATING.
4.) The staining. Two of my cousins on my mother side have the same exact staining on their legs (not all over they body like Ava though). Both of them were told it is a birthmark and have had no medical issues because of the staining.
5.) Ava has in his words... "gigantic hands and feet". SHE IS A CHUBBY BABY!!! She has rolls on her legs and arms and has big puffy cheeks. Her dad was the same way as a baby but was BIGGER. He was obese and abnormally large. His feet were fat like hers (her feet aren't long, their actually very tiny in length, but are super chubby and wide) and he couldn't wear shoes for a long time.
If you're wondering...he told me this crap with NO diagnostic testing, x-rays, or scans. NOTHING. He is basing this off of things that have a logical explination!!!! He then went on to tell me she may have a tumor on her brain...or she may of had a mini stroke...WHAT THE F***!!!???
At first I was upset and cried for days but now the dust has settled I am thinking the guy is a quack and I don't believe as a mother that anything is wrong with my child...
Ava gets an MRI and the diagnostic testing this coming Thursday and diagnostic blood work done to check her thyroid gland (which I suggested because he think her hands/feet are "abnormally" large) and chromosome testing. I will have the results April 13th (next Wednesday).
What do you girls think of this? Honest opinions please!!!
FYI: Ava does NOT have Multiple Portwine!
I have not been on here in some time but I am going through some "health issues" with Ava and needed to come to you girls for support. Firstly, Ava was born and diagnosed with what was thought to be Multiple Portwine, which is cardiovascular stain that is caused by an enlargement in the capillaries that can cause neurological damage, and I was told her staining had not caused any damage.
Anyways, about 1 month ago she was hospitalized for reoccurring ear infections that progressively got worse and worse. She was placed in Arnold Palmer and they specialize in pediatric care. A team of staff observed her staining and informed me it had to be a misdiagnosis because they were 99.9% sure she did NOT have Multiple Portwine because the coloration was not what Portwine is, the stains change color when she is mad/upset/cold/hot and only birthmarks are known to do this, the stains are not in her veins and are not enlarged capillaries, and so on...
I was happy about this and they told me to see a neurologist to get the misdiagnosis straightened out and to figure out what exactly the staining is - which they told me they strongly believed it was a birthmark. So I brought her to see a neurologist...
He spent an entire hour with me and her and asked question after question. He said based off her several observations he believes she may have a genetic disorder that is due to a defect with the Chromosome R14. His reasonings to sit me down and tell me this were a bit off and everything he brought up to me that was why he was SURE she had this defect had some sort of an explination. I will explain now..
1.) He said her speech is delayed. Well she has fluid in BOTH ears and her eardrums are stiff. This has been going on for 5 months now while I fought with her insurance company to place her with an ENT for tubes. She can't hear properly so of course her speech is affected!! (She gets tubes put in this Wednesday)
2.) She is low tone and just now at the age of 17 months is walking. Well she has loose Achilles tendons (her dad suffered with the same exact problem and wore braces as a child) and her ankles roll when she walks. Because her ankles roll her other muscles in her legs aren't able to strengthen properly...which is why she is low tone. The physical therapist said he is baffled that she is walking at all under the circumstances and told me her hips, spine, and upper extremity muscles are tight, strong, and well developed. She is not physically delayed in any other way, shape, or form. She gets braces to straighten her ankles so that her muscles are aligned properly and can strengthen.
3.) She screams all the time and seems to be "unhappy". OF COURSE SHE IS SCREAMING!! YOU ARE A STRANGER AND SHE DOES NOT KNOW YOU AND SINCE HER 2 DAY HOSPITAL STAY SHE IS PETRIFIED OF DOCTORS. NOT ONLY THIS BUT SHE HAS FLUID BUILD UP IN HER EAR. THE ENT TOLD ME ALL KIDS...ALLLLL KIDSSSS....WITH FLUID IN THEIR EAR SCREAM AND CRY BECAUSE IT PUTS PRESSURE ON THE EAR DRUM AND IT IS PAINFUL, THEY CAN'T HEAR PROPERLY, AND IT IS AGITATING.
4.) The staining. Two of my cousins on my mother side have the same exact staining on their legs (not all over they body like Ava though). Both of them were told it is a birthmark and have had no medical issues because of the staining.
5.) Ava has in his words... "gigantic hands and feet". SHE IS A CHUBBY BABY!!! She has rolls on her legs and arms and has big puffy cheeks. Her dad was the same way as a baby but was BIGGER. He was obese and abnormally large. His feet were fat like hers (her feet aren't long, their actually very tiny in length, but are super chubby and wide) and he couldn't wear shoes for a long time.
If you're wondering...he told me this crap with NO diagnostic testing, x-rays, or scans. NOTHING. He is basing this off of things that have a logical explination!!!! He then went on to tell me she may have a tumor on her brain...or she may of had a mini stroke...WHAT THE F***!!!???
At first I was upset and cried for days but now the dust has settled I am thinking the guy is a quack and I don't believe as a mother that anything is wrong with my child...
Ava gets an MRI and the diagnostic testing this coming Thursday and diagnostic blood work done to check her thyroid gland (which I suggested because he think her hands/feet are "abnormally" large) and chromosome testing. I will have the results April 13th (next Wednesday).
What do you girls think of this? Honest opinions please!!!
FYI: Ava does NOT have Multiple Portwine!
if there is some genetic condition then x-rays etc wouldn't have showed it. It sounds like he handled it very badly though 
it's also wrong of him to claim that he's sure she has it. I'm a med student and there are very few genetic disorders that we can be sure that people have without testing. He should have taken your opinions seriously, you know her genetics like what her dad was like and you are the one that spends the most time with her. 
