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OAVS
Anyone with information on OAVS syndrome. My 2 week old granddaughter has been DX with it.
MEDICAL PROFESSIONAL
Hi,
There may be reasons for her doctor to not have the test done but you could still have a platelet count test done or requested if you want to know her recent levels and more importantly to ease any anxiety. With the presence of the vulvar growth, this could be an important lead to consider in finding out the underlying cause of her symptoms. Indeed, pregnancy can greatly affect women in different ways and also case-to-case basis and post natal check-up is highly recommended. Do keep us posted with her follow-up with her Gyne-Onco. Warm regards.
There may be reasons for her doctor to not have the test done but you could still have a platelet count test done or requested if you want to know her recent levels and more importantly to ease any anxiety. With the presence of the vulvar growth, this could be an important lead to consider in finding out the underlying cause of her symptoms. Indeed, pregnancy can greatly affect women in different ways and also case-to-case basis and post natal check-up is highly recommended. Do keep us posted with her follow-up with her Gyne-Onco. Warm regards.
Her doctor said she did not need platelet count ran! Released her. I am frustrated. Would it have been a problem to just run a simple lab to double check???!!! GRRRRR
sass
sass
Hi! DIL has never had ITP in the past as far as we know. She had extensive blood work before trying to get pregnant. She is 35 yrs old and they are health concious, but not overdoing it. The eat lean and excercise modertly on a daily basis. She has never smoked and only drinks wine on occasion. I only know that around 32 weeks she found out that she had ITP with pregnancy. I was never told her actual numbers. I know some about ITP as my best friend almost died from it.
Her count was low and she had no idea! My DIL also had borderline pre-eclampsia. Around the same time as her ITP showed up the OB noticed a growth on the vulva. Biopsy was done and showed dysplasia. In one weeks time it had grown excessively and she was sent immed to a Gyno-Onocoligist. He did not appear alarmed and is having her return approx 6 weeks after birth. What does alarm me is that they have not reran her platelet count since delivery...at all.
At 36 weeks, they notified her that platelets had dropped again and sch c-section for the following week and had her come in for more labs. The next day she was informed of another drop in the count and moved the c-section up to the next day. She had a severe temperature drop in OR and they wrapped her for about 4 hours in warming blankets, including her head. In her room, she appeared more lethargic than I have seen in other c-section patients. I was quite concerned. Once at home, we returned in a week to have our turn helping and she still seemed lethargic. I encouraged a visit to OB and Labs. She mad an appt, was seen by the NP and they only ran thyroid, which was normal. When we left, my daughter came to take a weeks turn and DIL was still unimproved. Phone conversations still tend to be not the bright, sweet, precious woman that we know and love.
I realize and have tried to tell anyone who will listen about what a toll her little body has gone thru and the emotional havoc that can happen with birth, and the stress from twins, Callie's condition, her ITP, dysplasia, Surgery and all of the hormone/chemical changes, adjusting to life with newborns, etc. Luckily, she has an appt tomorrow and I hope that she balances out. I am so anxious to find out about her platelet level. She and I are close and she is like a daughter to me. But something has been off.
Again, Thank You for your concern! You are a special doctor indeed!
sass
Her count was low and she had no idea! My DIL also had borderline pre-eclampsia. Around the same time as her ITP showed up the OB noticed a growth on the vulva. Biopsy was done and showed dysplasia. In one weeks time it had grown excessively and she was sent immed to a Gyno-Onocoligist. He did not appear alarmed and is having her return approx 6 weeks after birth. What does alarm me is that they have not reran her platelet count since delivery...at all.
At 36 weeks, they notified her that platelets had dropped again and sch c-section for the following week and had her come in for more labs. The next day she was informed of another drop in the count and moved the c-section up to the next day. She had a severe temperature drop in OR and they wrapped her for about 4 hours in warming blankets, including her head. In her room, she appeared more lethargic than I have seen in other c-section patients. I was quite concerned. Once at home, we returned in a week to have our turn helping and she still seemed lethargic. I encouraged a visit to OB and Labs. She mad an appt, was seen by the NP and they only ran thyroid, which was normal. When we left, my daughter came to take a weeks turn and DIL was still unimproved. Phone conversations still tend to be not the bright, sweet, precious woman that we know and love.
I realize and have tried to tell anyone who will listen about what a toll her little body has gone thru and the emotional havoc that can happen with birth, and the stress from twins, Callie's condition, her ITP, dysplasia, Surgery and all of the hormone/chemical changes, adjusting to life with newborns, etc. Luckily, she has an appt tomorrow and I hope that she balances out. I am so anxious to find out about her platelet level. She and I are close and she is like a daughter to me. But something has been off.
Again, Thank You for your concern! You are a special doctor indeed!
sass
MEDICAL PROFESSIONAL
Hi Sass,
Your daughter-in-law has indeed tried almost everything and I really do commend her for it. I know it is easier said than done, but I hope she does not stop trying. The first weeks are really difficult but as soon as her body adjusts to the hormone and physical changes, everything will be fine.
Can you elaborate on your DIL's medical history and platelet count values? Although not enough studies have shown direct association to blood platelet count and breastfeeding at this time, it is best that she sees a hematologist for proper evaluation also and to rule out vitamin deficiencies. Your grandchildren are indeed very lucky to have your unwavering love and support. Do keep me posted with your DIL's new platelet counts and take care always.
Your daughter-in-law has indeed tried almost everything and I really do commend her for it. I know it is easier said than done, but I hope she does not stop trying. The first weeks are really difficult but as soon as her body adjusts to the hormone and physical changes, everything will be fine.
Can you elaborate on your DIL's medical history and platelet count values? Although not enough studies have shown direct association to blood platelet count and breastfeeding at this time, it is best that she sees a hematologist for proper evaluation also and to rule out vitamin deficiencies. Your grandchildren are indeed very lucky to have your unwavering love and support. Do keep me posted with your DIL's new platelet counts and take care always.
Dr. Santos,
Thanks for the hints, but at this time she has given up! She has been to the hospital numerous times for consults with their lactation specialist and hired one to come to their home for a more relaxed atmosphere. Even the specialist just could not make her have any breastmilk. She followed every hint, guideline, took nutritional supplements specific for breastfeeding, had the best pump from the Women's Hospital, rested, drank tons and tons of fluids, warm compresses, heating pads, even had her throid levels checked (normal) and still less than 15mls pumped every 3 hours. She still breastfed Kyndall, with a supplement that was added with a syringe that slipped between the breast and babies mouth, just to keep stimulated. I have never seen someone try so hard. Bless her heart. Could her low platelet count have anything to cause the lack of milk? This will be rechecked for the first time this Friday.
I have yet to mention our family genetic pool issues with them as of yet. Their stress level is just beginning to lower and I would rather be face to face rather than on the phone, but I feel like I need to do this soon, so they can inform their geneticist and the craniofacial team, before surgery or consult.
Thank You so much for taking the time to respond and to show your genuine care. I check often to see if you have had the time to comment.
sass
MEDICAL PROFESSIONAL
Hi Sass,
Thanks for the updates. How is Callie? I hope Callie and Kyndall are doing fine. I encourage your daughter-in-law to have her milk pumped regularly or for both twins to latch or nurse (especially Kyndall ) to stimulate more milk production. Frequent feedings, adequate rest, good nutrition, and adequate fluid intake can help maintain a good milk supply for the nursing mother. You could also contact a lactation consultant or a person who specializes in breastfeeding for proper evaluation and management of the feeding problems of Callie. With the family's history of genetic issues, it would also help to consult the geneticist for proper evaluation of the family's genetic history. This could help other members of the family as well. Take care always.
Thanks for the updates. How is Callie? I hope Callie and Kyndall are doing fine. I encourage your daughter-in-law to have her milk pumped regularly or for both twins to latch or nurse (especially Kyndall ) to stimulate more milk production. Frequent feedings, adequate rest, good nutrition, and adequate fluid intake can help maintain a good milk supply for the nursing mother. You could also contact a lactation consultant or a person who specializes in breastfeeding for proper evaluation and management of the feeding problems of Callie. With the family's history of genetic issues, it would also help to consult the geneticist for proper evaluation of the family's genetic history. This could help other members of the family as well. Take care always.
Great info you have about your family... I can not believe what luck of genetic anomolies your family seems to be going through. Sounds like you and the mommy of the twins need a big hug!! I am hoping things will get better as the girls get older.
Take Care
Take Care
Dr Santos, Thank You for your response. Callie is doing fairly well actually. she has a very difficult time feeding, they are using a Haberman nipple, but I believe they just received a pigeon and are going to try it. she is getting plenty of nutrition as she is gaining weight. She is also a twin and they were both a really good weight at 6lbs and 5.9. Born by c-section at 3 weeks. Kyndall has a slightly rumpled and flat upper ear lobe, but no other signs. Callie has bilateral macrostomia and multiple skin tags around both ears, in ear and two around her mouth are very small. She pants a lot while eating and had to be ryshed to ER once due to the panting became extreme and hyperventilated. She checked out well though. She was born with a double vessel umbilical cord, with what initially appeared to be a threat of intestinal extrusion, but turned out not to be.? All her organs, with the exception of a heart murmur (both girls have) and a slight hole in her heart. Her cardio feels that it possibly will close on its own. Re-evaluate in 6 months. She will have lip repair, muscle reattached, and skin tags removed hopefully in July at Christus St. Rosa Childrens Hospital in San Antonio, Tx.
They were delivered early due to my DIL already had borderline and her platelet levels began to really drop. She also discovered 2 weeks before delivery that she has vulvar dysplasia. She is very overwhelmed at this time.
My belief is that Callie's condition was caused by a autosomal-recessive or autosomal-dominant inheritance. A few too many similarities in my family. Multiple permanent missing teeth in my mother, sister, myself and my daughter. My daughter had multiple problems with her mouth and teeth. Even a tooth growing upside down in her palate. I have a very, very deep palate. Severe right sided parotid issues, no secretion. My daughter has a right leg shorter than the other. My sister had major right sided TMJ, myself minor riht sided TMJ. I was born with two cervical vertebrae only formed half way. Spina Bifida Occulta. DES baby. I have had two pituatary adenomas.
My son has had surgery for testicular varices and my grandson (6) for hypoplasia. It seems like a lot to be coincedetal.
Do you have any other easy fixes for bottle feeding her. DIL never got any breastmilk. 15ml at very most after pumping fo 30 minutes to an hour. Thyroid tested normal.
Callie has seen a geneticist and she was who intialy gave th DX of OAVS syndrome. Her plastic surgeon confirmed it as well.
I have poured and read over all the sites that you mentioned.
Thank You for any and all help you can think of.
Sass
They were delivered early due to my DIL already had borderline and her platelet levels began to really drop. She also discovered 2 weeks before delivery that she has vulvar dysplasia. She is very overwhelmed at this time.
My belief is that Callie's condition was caused by a autosomal-recessive or autosomal-dominant inheritance. A few too many similarities in my family. Multiple permanent missing teeth in my mother, sister, myself and my daughter. My daughter had multiple problems with her mouth and teeth. Even a tooth growing upside down in her palate. I have a very, very deep palate. Severe right sided parotid issues, no secretion. My daughter has a right leg shorter than the other. My sister had major right sided TMJ, myself minor riht sided TMJ. I was born with two cervical vertebrae only formed half way. Spina Bifida Occulta. DES baby. I have had two pituatary adenomas.
My son has had surgery for testicular varices and my grandson (6) for hypoplasia. It seems like a lot to be coincedetal.
Do you have any other easy fixes for bottle feeding her. DIL never got any breastmilk. 15ml at very most after pumping fo 30 minutes to an hour. Thyroid tested normal.
Callie has seen a geneticist and she was who intialy gave th DX of OAVS syndrome. Her plastic surgeon confirmed it as well.
I have poured and read over all the sites that you mentioned.
Thank You for any and all help you can think of.
Sass
MEDICAL PROFESSIONAL
Hi,
How is your granddaughter? The Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS), is a complex congenital anomaly with the majority of cases thought to be sporadic, but with occassional cases suggesting an autosomal-recessive or autosomal-dominant inheritance. Pubmed is a good place to read abstracts and additional references ( http://www.ncbi.nlm.nih.gov/pubmed/11314495)
Other resources for support groups such as Goldenhar Syndrome Support Network Society can be found in this link: http://children.webmd.com/goldenhar-syndrome-oculo-auriculo-vertebral-spectrum
Take care and best regards.
How is your granddaughter? The Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS), is a complex congenital anomaly with the majority of cases thought to be sporadic, but with occassional cases suggesting an autosomal-recessive or autosomal-dominant inheritance. Pubmed is a good place to read abstracts and additional references ( http://www.ncbi.nlm.nih.gov/pubmed/11314495)
Other resources for support groups such as Goldenhar Syndrome Support Network Society can be found in this link: http://children.webmd.com/goldenhar-syndrome-oculo-auriculo-vertebral-spectrum
Take care and best regards.
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