10-29-2004, 12:42 AM
Austin was born at 33 weeks via c-section. He weighed 2 lbs 13 oz. I saw him for just a few seconds and then he was rushed to NICU. He was put under the oxygen hood for an hour or so and then he was breathing on his own. I only got to see him shortly the day he was born. The next day I got to spent almost the whole day looking at him and holding him for the first time. I was so happy he was doing good. I noticed his face was red in areas and asked the doctors why? The doctor told me premature babies are red and it would go away in a few days. Well a few days later it was more noticeable. The doctor told me it was harlequins and would go away in a couple of weeks. I said okay it doesn’t bother me because he’s here and alive. Well during this time Austin’s platelets dropped out the bottom and had to have a transfusion. He held his own and got to come home when he weighed 4 lbs 1 oz, which was about a month. The doctor still didn’t know why he areas of his face red he guessed it was maybe some kind of birthmark but it should go away
I got to bring my baby boy home and nothing was wrong with him in my eyes. He was doing great until about three months old. He had a seizure in my arms for the first time. I took him to the doctor and they said that his nervous system hasn’t developed it was nothing. Well, he would have seizures and I would take him to the doctor or hospital and they would say that it was startle reflexes when he was a little older. I knew what seizures looked liked and I knew he was having them but no one would believe me. I did a lot of praying during that time. When Austin turned nine months old he had a major seizure in his sleep. He seized for about 7 minutes or longer. I had to tighten the crib up before I could up him back in it. At this time I was tired of going to the hospitals and them making me feel like I didn’t know what I was talking about so I waited until the morning and called his pediatrician. His pediatrician was off so he saw his partner. Thank God. This doctor asked me if Austin had Sturge-Weber Syndrome I said what’s that? He then asked about his port-wine stain and I knew nothing about either one. No one had told me that he had a port-wine stain or that it could be a sign of Sturge-Weber Syndrome. He said that he knew Austin could talk the week before because he heard him and at that time he couldn’t even make a sound when he cried. The doctor got Austin in to see a neurologist with in a week. She order some test. After the test came back she said your son has Sturge-Weber Syndrome. Then she hand me some papers that she printed off the internet and said “have a good day.” I looked at her and said that I had questions. She then replied to me all of the answers are in those papers. I was in shock the week before I knew nothing of Sturge-Weber Syndrome, port-wine stain and now my world was crashing around me. My son had lost the ability to crawl, cruise, talk, and cry with a voice and acted like he couldn’t hear me. I was scared to death.
Austin started on Topamax for his seizures. I don’t know if it was the high dose or what but shortly after starting on it he had 200 seizures in one weekend. I took him to the hospital and they kept him over night and gave him diastat to stop them. I knew then that I had to find a new neurologist.
I found a new neurologist how was knowledgeable in Sturge-Weber Syndrome and Port-Wine Stains. He started Austin on Phenobarbital along with the Topamax. He was then enrolled in PT, OT and speech. We were having his hearing checked every three months because he was at high risk for having hearing loss. Well around 10 months old he failed an ABR and was considered Deaf in the left ear. Then a few weeks later they retested him and he passed in his left ear and failed in his right. So he has some kind of hearing loss, but what kind? That is still up in the air two years later. They seem to think Auditory Neuropathy. Around this same time he started going to get glaucoma checks because the port-wine stain covers his left eye. There again no one told me about this either. Thank the dear Lord above he didn’t have it and so there was no damage. I fired his pediatrician and found a wonderful pediatrician that would and still does listen and is willing to learn about Sturge-Weber Syndrome and Port-Wine Stain.
The age one to two was pretty good. We did follow ups with all some of his doctors every two to three months and others ones every six months. We be came regulars in doctors offices for one thing or another. When Austin turned two that’s when everything flipped upside down again. Austin’s seizures were still not under control. He was still learning sign language (he started at 10 months). In June 2003 he had a “spell” where he turned blue from head to toe and stayed that way for a couple of hours. His wonderful pediatrician put him in the hospital because he heard a new heart murmur. Little did I know that they were putting him in Neuro ICU. Okay, that freaked me out!!!!! He said because of his seizures and heart it was better to have him there. Well he had two MRI’s to rule out a stroke, EKG, Echo, and a lot more test. Well…. They didn’t find anything per say wrong so after three days they sent him home. Well the next couple of months were okay. He kept getting sick and having to back and forth to the doctor. In October is when I got the next major scare. He was sick and running a fever. I took him to the doctor and he said it was a virus and it would go way in a couple of days. Well, on Saturday morning his fever was 107 degrees. I put Austin into a tub of cool water and I called his pediatrician at home. He said I was doing everything I could and keep doing it and he would call back later to check on him. He did call back later and his fever was down to 103. He was okay with that so we stayed at home. Well at 5:45 am on Sunday morning his fever hit 107.3 degrees. Back to the bath tub and on the phone with the doctor. Austin was hospitalized that day. The next week was just awful. Austin had bronchitis, high fever, dehydrated and blood count was awful. His blood count kept dropping and the third or fourth day one of the doctors came in and said “I have my panties in a wad over his blood work.” She then preceded to tell me she had call a pediatric hematologist in to look at his blood work and talk to me. Well, he came in and said that he needs to do a bone marrow aspiration on him because he could have Leukemia. My heart then fell to the floor. Austin had the bone marrow aspiration done and it came back as possible leukemia. The next few months were awful not only did I had no idea if he had it or not, but he was diagnosed with glaucoma in the left eye. Finally we had a repeat done and it came back negative. The next couple of months were okay. Austin started having vascular malformations showing up from head to toe. We still don’t know why or what has caused it. In March Austin went back for a check up at his at the neurologist office and found out he has calcification on the left optical lobe.
Austin finally started laser treatments in April of this year. He turned three in June. He has now had three laser treatments. He went to the dentist for the first time today. We are waiting for some test to come back about his heart . All in all he’s doing pretty good right now.
Jinny
I got to bring my baby boy home and nothing was wrong with him in my eyes. He was doing great until about three months old. He had a seizure in my arms for the first time. I took him to the doctor and they said that his nervous system hasn’t developed it was nothing. Well, he would have seizures and I would take him to the doctor or hospital and they would say that it was startle reflexes when he was a little older. I knew what seizures looked liked and I knew he was having them but no one would believe me. I did a lot of praying during that time. When Austin turned nine months old he had a major seizure in his sleep. He seized for about 7 minutes or longer. I had to tighten the crib up before I could up him back in it. At this time I was tired of going to the hospitals and them making me feel like I didn’t know what I was talking about so I waited until the morning and called his pediatrician. His pediatrician was off so he saw his partner. Thank God. This doctor asked me if Austin had Sturge-Weber Syndrome I said what’s that? He then asked about his port-wine stain and I knew nothing about either one. No one had told me that he had a port-wine stain or that it could be a sign of Sturge-Weber Syndrome. He said that he knew Austin could talk the week before because he heard him and at that time he couldn’t even make a sound when he cried. The doctor got Austin in to see a neurologist with in a week. She order some test. After the test came back she said your son has Sturge-Weber Syndrome. Then she hand me some papers that she printed off the internet and said “have a good day.” I looked at her and said that I had questions. She then replied to me all of the answers are in those papers. I was in shock the week before I knew nothing of Sturge-Weber Syndrome, port-wine stain and now my world was crashing around me. My son had lost the ability to crawl, cruise, talk, and cry with a voice and acted like he couldn’t hear me. I was scared to death.
Austin started on Topamax for his seizures. I don’t know if it was the high dose or what but shortly after starting on it he had 200 seizures in one weekend. I took him to the hospital and they kept him over night and gave him diastat to stop them. I knew then that I had to find a new neurologist.
I found a new neurologist how was knowledgeable in Sturge-Weber Syndrome and Port-Wine Stains. He started Austin on Phenobarbital along with the Topamax. He was then enrolled in PT, OT and speech. We were having his hearing checked every three months because he was at high risk for having hearing loss. Well around 10 months old he failed an ABR and was considered Deaf in the left ear. Then a few weeks later they retested him and he passed in his left ear and failed in his right. So he has some kind of hearing loss, but what kind? That is still up in the air two years later. They seem to think Auditory Neuropathy. Around this same time he started going to get glaucoma checks because the port-wine stain covers his left eye. There again no one told me about this either. Thank the dear Lord above he didn’t have it and so there was no damage. I fired his pediatrician and found a wonderful pediatrician that would and still does listen and is willing to learn about Sturge-Weber Syndrome and Port-Wine Stain.
The age one to two was pretty good. We did follow ups with all some of his doctors every two to three months and others ones every six months. We be came regulars in doctors offices for one thing or another. When Austin turned two that’s when everything flipped upside down again. Austin’s seizures were still not under control. He was still learning sign language (he started at 10 months). In June 2003 he had a “spell” where he turned blue from head to toe and stayed that way for a couple of hours. His wonderful pediatrician put him in the hospital because he heard a new heart murmur. Little did I know that they were putting him in Neuro ICU. Okay, that freaked me out!!!!! He said because of his seizures and heart it was better to have him there. Well he had two MRI’s to rule out a stroke, EKG, Echo, and a lot more test. Well…. They didn’t find anything per say wrong so after three days they sent him home. Well the next couple of months were okay. He kept getting sick and having to back and forth to the doctor. In October is when I got the next major scare. He was sick and running a fever. I took him to the doctor and he said it was a virus and it would go way in a couple of days. Well, on Saturday morning his fever was 107 degrees. I put Austin into a tub of cool water and I called his pediatrician at home. He said I was doing everything I could and keep doing it and he would call back later to check on him. He did call back later and his fever was down to 103. He was okay with that so we stayed at home. Well at 5:45 am on Sunday morning his fever hit 107.3 degrees. Back to the bath tub and on the phone with the doctor. Austin was hospitalized that day. The next week was just awful. Austin had bronchitis, high fever, dehydrated and blood count was awful. His blood count kept dropping and the third or fourth day one of the doctors came in and said “I have my panties in a wad over his blood work.” She then preceded to tell me she had call a pediatric hematologist in to look at his blood work and talk to me. Well, he came in and said that he needs to do a bone marrow aspiration on him because he could have Leukemia. My heart then fell to the floor. Austin had the bone marrow aspiration done and it came back as possible leukemia. The next few months were awful not only did I had no idea if he had it or not, but he was diagnosed with glaucoma in the left eye. Finally we had a repeat done and it came back negative. The next couple of months were okay. Austin started having vascular malformations showing up from head to toe. We still don’t know why or what has caused it. In March Austin went back for a check up at his at the neurologist office and found out he has calcification on the left optical lobe.
Austin finally started laser treatments in April of this year. He turned three in June. He has now had three laser treatments. He went to the dentist for the first time today. We are waiting for some test to come back about his heart . All in all he’s doing pretty good right now.
Jinny