When the Dr finally listened to me and realized that there was indeed a problem with Zackary and I wasn't just a crazy mother thinking that there was something wrong when there wasn't. They referred us to St Louis Children Hospital 4 hours away from us to a diagnostic Dr to see if he would be able to tell us something.
They done a complete skeleton scan and blood work. In hopes that would show something on what was causing all these problems (lack of weight gain, not walking, baring weight on his legs, losing weight, discoloration in his legs & feet)
Below is the letter that I received from them after our initial visit there.
There are a lot of terms on here that I don't know the non medical terms for. LOL
He had gained little or no weight since he was 9 months old and his weight plots in the first year of life, move along the 25th percential until about 7 months and then they have been flat from 7 months to 15 months. His length closely parallels his weight, moving along the 3rd to 10th percentile through the first six months and then almost no increase since that time. OFC moved down below the 3rd percentile and now is about the same distance from the normal range as his weight and length. His weight today is 7.6 kg, it is -3 SD.
He had his first tooth erupt after a year of age. He now has four. (As of 3-14-10, He's got 6)
He has had papulosquamous eruption diagnosed as eczema through most of his life and more recently he has had a confluent red discoloration of his feet and legs up to his nees which blanches on pressure. He also has a puffiness about his feet.
He will maintain himself in a seated position but will not support weight when held vertically and placed on his feet, either for is not cruising nor walking.
At 4 months of age he was seen and seemed to be normal in growth and development. He had bronchitis and was diagnosed with gastroesophageal reflux and was on ranitdine.
At 10 months he was seen and had a normal CBC, ESR, thyroid studies, and echocardiogram showed a small PDA. He was diagnosed with eczema.
At 12 months he was given MMR, Varivax, and hepatitis A vaccines. The slow growth was noted as a problem as was the unusual erythema of the lower extremities.
At 13 months, again the growth issues were identified as a concern and blood was drawn for CF testing and was negative for delta f508 mutation.
Chest Xray (8-21-09) shows normal lung and cardiac silhouette.
At 9 months of age, a 2D echocardiogram showed a small PDA with the left to right shunting and otherwise normal intracardiac anatomy.
We were admitted into St Louis Children Hospital on March 9th until the 13th. We seen about 50 doctors while we were there. We will have no answers really on what is causing the problems that he is still having. They drew blood, brain scan, brain stem scan, upper GI & Lower GI scan, ultrasound on his legs, hips and feet, another CF test (actually 2). I know there are something that I missing.
On March 17th, we had a follow up with his Ped after the admission to STLCH. He was up to 17lbs 8oz. He puked 3 times while at the Drs office so his Ped referred us to a Pediatric Gastroenterologist the following Monday.
(3-22-10) St Louis hasn't even sent the paperwork for his admission to the Dr's office. I had to take him to a Dr that specializes in Pediatric Gastroenterology to see if there was a problem with his stomach or it was acid reflux that is causing him to puke all the time. Prolly about 4 days outta the week he pukes prolly 3 or 4 times a day if not more. He said that he knows that his vomiting has nothing to do with his growth problem or his gaining weight. He actually thought that he was only 8 months old. He actually turned 16 months yesterday. =( So no I haven't found anything out. I just know that the Dr that I seen today say that there has to be a under lying issue or syndrome that is causing him not to grow or gain weight. His also said that that there is something wrong, he knows that. He's as unsure as we are on what the problem is.
We had a follow up appt on the 15th of April with the genetics team that we first seen while we were admitted into the hospital. He was finally up to 18lbs at 17 months old. They thinking that Zackary has got a Zinc Deficiency. So they wrote me a script for Zinc. They said that is the zinc problem has anything to do with the color is his legs being off that they would clear up in about a week or 2 after starting the supplement. They are also thinking the there might be something in his body that is blocking the Zinc from getting into his blood stream. The only way to find out if to have a test done but no one in the USA does this testing so they would have to send his blood out to a research lab out of the USA. They attempted to do another Cystic Fibrosis test done, he wouldn't sweat. I tried to tell them that I've never known him to sweat even being in the heat all day through the summer.
(4-22-10) We went to the Dr to see his Ped. His ped gave us a script for reglan to see it that will calm down the whole puking incident. We are suppose to give it to him 2 times a day. He was down to 17lbs 5oz. Which means he's lost over a lb again. He also said that he is having troubles with STLCH communicating with the office and still hasn't heard anything from them. I'm really starting to overly frustrated with this whole deal.
The Reglan wasn't working as we hoped, so I have to now give it to him 3 times a day until we see the Dr again on the 21st. Its still not helping a lot. The color in his legs haven't changed. They are still as dark and purple as the pictures above. When we go to the Dr on the 21st, if they haven't heard anything by then I'm telling him that I want referred to somewhere else for a second opinion. There is Riley's Children Hospital in Indianapolis Or Shiners Children Hospital in Chicago. I NEED to know what is going on with my baby. This is just crazy. Sorry this is so long, I just wanted the other girls to know what was going on with him like I said so they wouldn't be confused when I talk about it. I will update you on how he's doing especially after the appt on the 21st.
At the appt on the 21st, I had a complete breakdown. I told Zackary's primary dr that I could do it anymore and that I needed some kind of answers. He asked me if I wanted to continue with STLCH or if I wanted to go somewhere else. I told him that I no longer wanted to waste my time with STLCH because in 6 months they still couldn't give me any answers. So he said that he would make some calls and have someone get back to me.
I got a call about a week or so later stating that they had indeed got ahold of Riley's Childrens Hospital. They took Illinois Medical Card and I had to wait for them to call me to set up an appt. Right after I got off the phone with the Peds office, Riley's called. Our appt was set for June 16th @ 2:00pm.
When we went to the appt the new Dr (on the 16th) said that there was a few things that she was concerned about.... The first thing was him being so short. He's only 27 inches at almost 2. He's gained 9 inches since he was born. They are worried about his hearing. He still isn't talking. he just now started to babble but doesn't say any words. They said that since he still hasn't started talking that he might have something wrong with is hearing. And his head isn't growing either which they are worried that his brain isn't growing. So I'm stressing over that.
Then they called me this past Tuesday (22nd) and tell me that he's got something called autonomic dysfunction. He is unable to regulate anything that he has to think about such as heart rate, blood pressure, body temp & sweating. They say that there is a underlying issue that is causing this problem but they can't figure out what it is. Prognosis after diagnosis is 5 to 7 years after diagnosis depending on the severity of underlying issues & this neurological disorder.
At 4 months of age he was seen and seemed to be normal in growth and development. He had bronchitis and was diagnosed with gastroesophageal reflux and was on ranitdine.
At 10 months he was seen and had a normal CBC, ESR, thyroid studies, and echocardiogram showed a small PDA. He was diagnosed with eczema.
At 12 months he was given MMR, Varivax, and hepatitis A vaccines. The slow growth was noted as a problem as was the unusual erythema of the lower extremities.
At 13 months, again the growth issues were identified as a concern and blood was drawn for CF testing and was negative for delta f508 mutation.
Chest Xray (8-21-09) shows normal lung and cardiac silhouette.
At 9 months of age, a 2D echocardiogram showed a small PDA with the left to right shunting and otherwise normal intracardiac anatomy.
We were admitted into St Louis Children Hospital on March 9th until the 13th. We seen about 50 doctors while we were there. We will have no answers really on what is causing the problems that he is still having. They drew blood, brain scan, brain stem scan, upper GI & Lower GI scan, ultrasound on his legs, hips and feet, another CF test (actually 2). I know there are something that I missing.
On March 17th, we had a follow up with his Ped after the admission to STLCH. He was up to 17lbs 8oz. He puked 3 times while at the Drs office so his Ped referred us to a Pediatric Gastroenterologist the following Monday.
(3-22-10) St Louis hasn't even sent the paperwork for his admission to the Dr's office. I had to take him to a Dr that specializes in Pediatric Gastroenterology to see if there was a problem with his stomach or it was acid reflux that is causing him to puke all the time. Prolly about 4 days outta the week he pukes prolly 3 or 4 times a day if not more. He said that he knows that his vomiting has nothing to do with his growth problem or his gaining weight. He actually thought that he was only 8 months old. He actually turned 16 months yesterday. =( So no I haven't found anything out. I just know that the Dr that I seen today say that there has to be a under lying issue or syndrome that is causing him not to grow or gain weight. His also said that that there is something wrong, he knows that. He's as unsure as we are on what the problem is.
We had a follow up appt on the 15th of April with the genetics team that we first seen while we were admitted into the hospital. He was finally up to 18lbs at 17 months old. They thinking that Zackary has got a Zinc Deficiency. So they wrote me a script for Zinc. They said that is the zinc problem has anything to do with the color is his legs being off that they would clear up in about a week or 2 after starting the supplement. They are also thinking the there might be something in his body that is blocking the Zinc from getting into his blood stream. The only way to find out if to have a test done but no one in the USA does this testing so they would have to send his blood out to a research lab out of the USA. They attempted to do another Cystic Fibrosis test done, he wouldn't sweat. I tried to tell them that I've never known him to sweat even being in the heat all day through the summer.
(4-22-10) We went to the Dr to see his Ped. His ped gave us a script for reglan to see it that will calm down the whole puking incident. We are suppose to give it to him 2 times a day. He was down to 17lbs 5oz. Which means he's lost over a lb again. He also said that he is having troubles with STLCH communicating with the office and still hasn't heard anything from them. I'm really starting to overly frustrated with this whole deal.
The Reglan wasn't working as we hoped, so I have to now give it to him 3 times a day until we see the Dr again on the 21st. Its still not helping a lot. The color in his legs haven't changed. They are still as dark and purple as the pictures above. When we go to the Dr on the 21st, if they haven't heard anything by then I'm telling him that I want referred to somewhere else for a second opinion. There is Riley's Children Hospital in Indianapolis Or Shiners Children Hospital in Chicago. I NEED to know what is going on with my baby. This is just crazy. Sorry this is so long, I just wanted the other girls to know what was going on with him like I said so they wouldn't be confused when I talk about it. I will update you on how he's doing especially after the appt on the 21st.
At the appt on the 21st, I had a complete breakdown. I told Zackary's primary dr that I could do it anymore and that I needed some kind of answers. He asked me if I wanted to continue with STLCH or if I wanted to go somewhere else. I told him that I no longer wanted to waste my time with STLCH because in 6 months they still couldn't give me any answers. So he said that he would make some calls and have someone get back to me.
I got a call about a week or so later stating that they had indeed got ahold of Riley's Childrens Hospital. They took Illinois Medical Card and I had to wait for them to call me to set up an appt. Right after I got off the phone with the Peds office, Riley's called. Our appt was set for June 16th @ 2:00pm.
When we went to the appt the new Dr (on the 16th) said that there was a few things that she was concerned about.... The first thing was him being so short. He's only 27 inches at almost 2. He's gained 9 inches since he was born. They are worried about his hearing. He still isn't talking. he just now started to babble but doesn't say any words. They said that since he still hasn't started talking that he might have something wrong with is hearing. And his head isn't growing either which they are worried that his brain isn't growing. So I'm stressing over that.
Then they called me this past Tuesday (22nd) and tell me that he's got something called autonomic dysfunction. He is unable to regulate anything that he has to think about such as heart rate, blood pressure, body temp & sweating. They say that there is a underlying issue that is causing this problem but they can't figure out what it is. Prognosis after diagnosis is 5 to 7 years after diagnosis depending on the severity of underlying issues & this neurological disorder.
0 comments:
Post a Comment