Monday, August 27, 2012

Lymphatic Malformation

Lymphatic Malformation affects approximately 1 in 6,000 live births, but the severity can range greatly. LM is a disorder where the lymphatic system does not develop properly and causes cysts to form under the skin. The most common area is the head and neck, but it can occur in many different places.

Cystic swelling in the affected area. Often affects all tissues involved, making treatment difficult.

LM is often detected via ultrasound in utero in the middle stages of pregnancy. After birth MRI, CT and ultrasound can confirm a diagnosis. Sometimes non-visible LM's are found because other symptoms are present.

Treatment of complex LM is difficult, often involving many treatments. Surgical removal of LM tissue is common. Sclerotherapy (inecting the cysts with an agent that helps irritate ans shut down each individual cyst) can be successful. Lymphatic malformation in the airway can be treated by lasers and other forms of removal. Treatment by a team well experienced in LM is essential. Dormant LM tissue often causes recurrence, so more complex LM is typically managed, not "cured".

The National Organization of Vascular Anomalies (and on Facebook)
Cincinnati Children's Hospital Medical Center- Hemangioma and Vascular Malformation Center

Personal Story:
My son Micah was diagnosed with a large head and neck LM at 24 weeks gestation. He has been treated at Cincinnati Children's since birth. His LM affects his airway and he has a trach and feeding tube. He has had over a dozen surgeries and other treatments to manage his LM. Micah is an amazing little boy who proves to us every day that miracles do happen! He is otherwise healthy and happy and a joy to those around him.

Contributed by MOM Brittany Hartman- Read more about Micah

Monday, August 20, 2012

Group B Streptococcal Meningitis (GBS)

Despite the development of effective vaccines, useful tools for rapid identification of pathogens, and potent antimicrobial drugs, neonatal meningitis continues to contribute substantially to neurologic disability worldwide.

The persistence of neonatal meningitis results from increases in the numbers of infants surviving premature delivery and from limited access to medical resources in developing countries. In addition, the absence of specific clinical findings makes diagnosis of meningitis more difficult in neonates than in older children and adults. Moreover, a wide variety of pathogens are seen in infants as a consequence of the immaturity of their immune systems and intimate exposure to possible infection from their mothers.

This review focuses on common presentations of treatable bacterial and viral meningitis in the neonatal period, defined as the period from birth to 44 weeks after conception. Common central nervous system (CNS) infections caused by bacteria and viruses (eg, herpes simplex virus [HSV]) are emphasized. Meningitides caused by HIV and fungi are excluded, as are those caused by other organisms implicated in congenital CNS damage (eg, cytomegalovirus [CMV] and Toxoplasma).

Group B Streptococcal Meningitis (GBS) is a form of Meningitis caused by the bacteria Streptococcal. This bacteria is usually found in the vagina, bowels, and back of the nose and throat. The bacteria can spread to the baby before or during birth.

Commonly associated with neurologic symptoms. Most ofter stupor and irritability.
Between 25% and 50% of neonates will exhibit the following neurologic signs:
  • Seizures

  • Bulging anterior fontanel

  • Extensor posturing or opisthotonos

  • Focal cerebral signs including gaze deviation and hemiparesis

  • Cranial nerve palsies

Bacterial meningitis in neonates almost always occurs with sepsis but is difficult to distinguish clinically from sepsis alone; both present with a constellation of symptoms that indicate systemic illness. Therefore, treatment is started on the basis of presumed infection rather than proven infection.

Aggressive antimicrobial intervention is lifesaving in neonates with suspected meningitis. Because distinguishing viral from bacterial meningitis is difficult early in the clinical course, a combination of agents is often necessary, providing coverage for both types of infection. The duration of therapy for bacterial and herpes simplex virus (HSV) meningitis with an appropriate agent is typically 14-21 days.

Most of the above information was found on Medscape

MFA- Meningitis Foundation of America:

Our Story:
My name is Stephanie my husband is Fausto, we have two wonderful kids together. Nicolas is 29 months old, he a ray of sun shine and keep me holding on strong threw a lot! Alaina is 20 months old, she is our angel and miracle everyone calls her princess! Just in case your wondering no they are not twins, we get asked that one a lot.

Our story starts almost two years ago. Nicolas was three months old and I swore I thought I was pregnant again. I went to the doctor and was told I just had a bad kidney infection put on medicine and sent home. As time went on I was still getting positive pregnancy test and was told it was because of Nicolas and breast feeding. I was having all kinds of problems with bleeding and everything under the sun. But every time the doctor just put it back to my pregnancy with Nicolas. Between July and Augest I had been to the doctor's and emergency room at least 20 times. Then in the middle of September the doctor did and ultrasound to shut me up and sure enough I was right! She said I was about 25 weeks. Then I started asking why was I bleeding so much and she told me I had brused cervix, but the baby was fine. I didn't like that answer at all I had never heard of that before! Then she gave me medicine to stop contractions and told to make an appointment and told to just take the pills if I felt more contractions, not to worry about coming back in for them. I was not happy at all! I called that same day and found another doctor. I got in the next week to see the new doctor told him about everything he put me on bed rest until I saw him the next week for an ultrasound and lots of testing! If I started bleeding again or felt contractions go right to the emergency room. Sure enough on October 5, 2010 at around 8am I started going in to full blown labor not even a week after I saw the doctor. Fausto had left for work with the car already so I called him over and over for 45 minutes before he picked up. He picked his mom up on his way home to watch Nicolas and we headed to the hospital. (With his mom and Nicolas) I was rushed back in to a room and hooked up to monitors. I was in full blown labor at 27 weeks exactly. They started me and medicine to stop labor and did an ultrasound. By then my doctor was there and freaking out because he had not got to do any ultrasounds or test to see what was wrong. After one full round on the medicine to stop labor I was still in labor! Fausto left to take his mom and Nicolas to her house since they said I'd be there over night at least. About half an hour after he left my doctor came running in full speed telling the nurses to prep for surgery asap! I had no clue what was going on but I freaked! I called Fausto and told him to get back to the hospital and now. I was rushed to surgery 5 minutes before he got there. They did an emergency c-section. I don't remember much during the surgery other then people screaming and yelling and then I heard someone say 1 pound 12 ounces. I freaked out I didn't know if they were talking about the baby or something else!

I woke up in recovery with Fausto standing next to me with almost a blank look on his face. I asked what the baby was he grind and said its a girl, she is 1.12lbs and 14.5inc. I was excited we had a girl but freaking, babies are not supposed to be that small! I got moved to a private room where the doctor came in and told us what had gone wrong. My placenta had ruptured months ago and the baby was not getting much of anything and I was slowly bleeding to death. Alaina was worked on for hours before I ever got to see her I got 10 minutes to see her before she was rushed to the children's hospital over an hour away. Amazingly I got a call in my room from the children's hospital saying they were able to pull her breathing tube and she was doing great on cpap.

I was about to be sent home three days later when I started having chest pain. I was sent for a CT scan where they found I was suffering a pulmonary embolism. I was rushed to ICU and put on watch. With in hours I was put on heavy doses of blood thinners, pills and shots in my stomach twice a day. After a week and a half in ICU I was put back in a normal room but still my Med levels where not good enough to go home. Alaina had got sick with staph infection in her blood and had to be put back on a vent. I kept pushing to go home but between the three specialist only two were ok with me going the other kept me for another 3 days.

By the time I got out of the hospital Alaina was on the road of doing amazing! She was gaining weight and was sent back to where she was born to be closer to us. But after only a week back we got a call at 4 am the doctor called to say she was crashing and fast! At four and a half weeks old she rushed back to the children's hospital in critical condition. They refused to let us go see her because they had no clue what was wrong with her. All day long I called the doctors at the hospital and no one knew anything other then in was an infection. Around 6pm that night I got a call that crushed my world where I stood! She had late on set GBS meningitis and would not live more then 48 hours, but they didn't think she would even make 24 hours. We were told to come and say our goodbyes. The days went by and she was still kicking butt and taking names. After about two weeks she was back to not being swelled up. But that's when the damage started to show. She had a stroke on both sides of her brain, was having seizures, and so much more. But after five long months in the NICU and one brain surgery she was sent home.

She has had so many hospitalization since she came home I can't even count! We have spent months at a time in the hospital. In November of 2011 she started to decline, always having seizures at least 15 a day, never woke up was up to 15 letters of O2 a minutes, and just not doing good at all! We kept taking her in and after a few days they would send her home with some random diagnosis. In January she was still bad if not worse! We took her in and after ICU for a week she was sent home on hospice. I could do nothing but cry! We denied hospice from getting her as a patient and started setting up appointments with a new hospital. I knew there had to be someone out there that would help. In February she started coughing up blood but had not got to see any of her new doctors yet. But I took her to the new hospital anyway. She was admitted right away and they started testing for everything!

After three days in the hospital the pulmonary team asked if they could do a surgery to look at her airway and lungs, and take some samples from her lungs. We let them do it hoping something would be found! Sure enough two days later they came back and said they found something! She had a very rare bacteria infection in her lungs and kidneys and urinary tract. She was in the hospital for two months well they worked on all of problems.

In April we brought home a brand new little girl! She has all the same health problems but they are now under control. She went from being mute to making as much noise has her big brother, she tries to sit up and stand up, she is off O2 most the time, has only had two seizures since February and all together is doing amazing. She is even starting to show off her sassyness!

In July she stopped breathing again and was life flighted to the children's hospital. Even after a few days on a vent she was having problems. She was given her first trach on July 20th. She is now off and O2 or other breathing type help. We are hopping to go home this week!

In total she has had two brain surgeries, two airway surgeries, tracheotomy placement, one stomach surgery, and an ear surgery. She has CP, hydrocephalus, feeding difficulties, hearing loss in both ears, vision loss in both eyes, mentally delayed, epilepsy, and much more I can't even think of right of hand!

Contributed by MOM Stephanie

Monday, August 13, 2012

Trisomy 14q 32.33

Both of our children have a rare genetic disease (we are told that we are the only known case) They have Duplication chromosme 14q32.33. It took us five years to get the diagnosis.

A chromosome 14 duplication is a rare condition caused by an extra segment of genetic materials from one of the body’s 46 chromosomes, resulting in extra copies of the genes present on that segment. The correct amount of genetic material is needed for normal growth and development.

widely spaced eyes, congenital heart defects, dental problems, mental retardation, growth problems, developmental delays, liver abnormalities, asthma, blocked nasal passages requiring corrective surgery (choanal atresia), an immune deficiency, a large VSD and genital anomalies In some cases, the hands had slightly unusual features, including a single palm crease, short or tapered fingers;Development was also affected, with moderate delays in mobility, low muscle tone (hypotonia) and walking achieved in the second or third years In babies with large 14q duplications, incurving of the fifth finger and overlapping fingers and toes have been seen and one baby had talipes calcaneovalgus (clubfeet), a positional deformity in which the feet point outwards and downwards. Among the unusual facial features observed were a prominent forehead, a prominent nose, a small chin and lower jaw, unusual ears, a protruding upper lip, a high forehead, fontanelles (soft spots on top of the head) that were slow to close, downslanting, widely spaced eyes and possibly sparse hair growth.

CGH ARRAY diagnosis trisomy chr 14q32.33

Treat each problem as it occurs.
No further information is available

Our Story:
Vanessa and Jacob Jennings are brother and sister that share more than blood, they both have Trisomy 14q 32.33, a very rare genetic disorder. So far they are the only known case of it.

Contributed by MOM Barbara- Read more about Vanessa and Jacob

Monday, August 6, 2012

Retinopathy of Prematurity (ROP)

Retinopathy of prematurity (ROP) is when blood vessels develop abnormally in the retina of premature infants. The blood vessels of the retina begin to develop 3 months after conception and complete their development at the time of normal birth. If an infant is born very prematurely, eye development can be disrupted. The vessels may stop growing or grow abnormally from the retina into the normally clear gel that fills the back of the eye. The vessels are fragile and can leak, causing bleeding in the eye. Scar tissue can develop and pull the retina away from the eye and cause blindness. High amount of oxygen can increase the abnormal growth of the blood vessels.

There are 5 stages of ROP.

  • Stage I: There is mildly abnormal blood vessel growth.
  • Stage II: Blood vessel growth is moderately abnormal.
  • Stage III: Blood vessel growth is severely abnormal.
  • Stage IV: Blood vessel growth is severely abnormal and there is a partially detached retina.
  • Stage V: There is a total retinal detachment.

ROP can not be seen by looking a a infants eye. It can only be diagnosed by a eye exam.

Treatment may include cryotherapy (freezing) to prevent the spread of abnormal blood vessels.

Laser therapy (photocoagulation) may be used to prevent complications of advanced ROP. The laser therapy stops the abnormal blood vessels from growing. It can be performed in the nursery using portable equipment. To be effective, it must be done before scarring and detachment occurs

Surgery is needed if the retina detaches.


Personal Story
Julia was born at 24 weeks and was the only surviving triplet. She spent 315 days in the NICU before she was strong enough to come home. During her time in the NICU she was on and off a ventilator and on high amount of oxygen for long periods of time. She had a trach put in at 6 months is hope of getting her off the vent and off high amounts of oxygen since her eyes were being affected by ROP. By the time she was 6 months old she had already had cryotherapy and many laser treatments on both eyes. She also had surgery on both eyes to try to reattach her retina's. Even though her ROP was caught early and treatment was started right away we were told our daughter was completely blind in both eyes. She is now 7 and doing great. She is blind but that does not stop her one bit from doing anything and everything a normal 7 year old would want to do.

Contributed by MOM Jodi