Joseph's Birthday Pics Are Here !!! June 11, 2008 - - he turned 7 years old.

Joseph turned seven years old June 11. We were all happy to celebrate at our local McDonald's play area.

Joseph was thrilled to get presents and a card from the Roberts.

He wanted to be sure to open it himself. "IIIIII do it !!" He says.

Joseph pointing out what a cool card it was. He really really liked it.

THIS WAS THE FIRST YEAR JOSEPH CELEBRATED HIS BIRTHDAY !
HE WAS REALLY EXCITED ABOUT THE IDEA.

Jennifer

Update on Joseph's Heart Surgery

I received a phone call from the cardiologist and was fortunate to discuss Joseph. Joseph has been having chest pain on and off pretty much daily. The cardiologist wants to give him a Stress Test, which is a test that studies how the heart manages at increasing levels of activity and exercise. It is scheduled this coming Monday afternoon on the 23rd. Then cardiology will discuss surgery again and how urgently he needs to have it done. Once Joseph has surgery (both parts) and has healed, the length of his life and the quality of his life will improve drastically. It is pretty much a sure thing that he will be getting a pacemaker, again the question is when. The first surgery in the double switch procedure for Jseph's heart surgery involves them putting a band around the artery off the left ventricle. Normally that is the ventricle that pumps blood to the body and can stand high pressure, but Joseph's left ventricle has only been pumping to his lungs under low pressure his whole life. In order for his left ventricle in his heart to handle the pressures of pumping to the body after the surgery, they will put a band around the artery to increase the pressure so over time his left ventricle will get stronger. The second half of the surgery is usually 3 to 6 months after the first surgery. It has not been decided when they will put in the pacemaker. After we have results on the stress test and look at the big picture at conference on Wednesday, then we will know more. We just have to take it one piece of the puzzle at a time. Joseph is now on activity restrictions of no strenuous activity such as running, wrestling, rolling on the floor, and hanging off the bunkbed. We moved him to the lower bunk to help decrease the temptaton of hanging off the bunkbed because he likes to do that. He is such a little monkey. It is really hard for him, and I don't think he understands. I just tell him the doctors and mommy are trying to help his heart stop hurting.

Please keep Joseph in prayers as well as all of us.

Blessings,
Jennifer

Waiting, waiting

Waiting is a killer, especially when you suspect the results are abnormal. Unless I heard wrong, endocrinology said the results of Michael's cortisol were abnormal and that the doctor would be calling. She didn't call today, so I will have to call again tomorrow. I understand endocrinology is very short staffed on doctors, but that doesn't help this mom's heart. Hopefully tomorrow.

Praying Always,
In Christ,
Jennifer

Update on Michael, Joseph, Joshua, Gabriela and Shawna

Dear Friends and Family alike:

Our son Michael is now 12 years old. We had an appointment with an opthalmologist specialist on Friday the 14th because of the light sensitivity with Michael's eyes and the on-going headaches he has had for so long. The opthalmologist, Dr. Sami, was amazing. He is very knowledgeable, and we were glad to see him. We brought the MRI films of Michael's brain, pituitary and hypothalamus. As an RN and then as a parent as well, I want to see the results myself. Since we were unable to obtain a copy of the radiologists report, I thought it a good idea to get the physician's varying opinions on the MRI films themselves. I am SOOOO glad I did.

Dr. Sami was very very thorough. He checked Michael's vision, inside his eye, and even his retina. All the things a good opthalmologist should check and then some. He did look at the MRI films, and then looked a 2nd and 3rd time and some in particular. He asked us if we had some time, and said he wanted the radiologist across the street to check them. We said sure, and he literally ran out the door. When he came, he said the radiologist confirmed what he saw on the MRI. Michael has Hypoplasia of the Corpus Callosum (thinning of the corpus callosum) and Periventricular Leukomalacia (or PVL for short). Michael was premature, apparently EXTREMELY premature, one of the rare 4% of all premature babies who develop PVL. It means (as accurate as we can be with what we know of Michael's history), that he was lucky to survive and was born before his lungs were even premature, was placed either on high flow oxygen or a respirator or both until his lungs were more mature. At some point around Michael's extremely premature birth, he had ischemia in his brain. Ischemia is where brain tissue does not get enough oxygen or blood flow, and the brain tissue dies. Periventricular is the area of the brain around the ventricles. The ventricles in the brain hold cerebrospinal fluid. The corpus callosum are the fibers that connect the two halves or hemispheres of the brain together. On Michael's MRI, you can see the areas of where the brain cells died and formed cysts. The corpus callosum in normal healthy brains is decently thick, and the fibers allow information to be passed from one side of the brain to the other. In Michael's brain, it is much thinner and some of the fibers may be damaged from the ischemia. Some statistics say that PVL is as rare as 5 children in a million. With MRI technology these days able to diagnose it, it may actually be more prevalent. It explains a tremendous amount about Michael, the way he communicates, learns, language, behaviors, frustrations and coping and on and on. It is very often missed and / or misdiagnosed. PVL can often be misdiagnosed as autism or asperger's. It is very important to know that in children who are diagnosed with autism or asperger's who also have PVL that the autism or asperger's is a secondary diagnosis. This means the asperger's for example is the result of the PVL. PVL is a physical neurological diagnosis because of a physical / structural abnormality in the brain, where as autism or asperger's by itself is a psychological diagnosis. It was a tremendously important thing to find out. So, Michael will be seeing a neurologist, and we will bring the MRI films to be sure nothing else was missed as well as to his other appointments. I am sure endocrinology and rheumatology will find this very interesting, especially as we learn how this ties in to the many difficulties Michael has had since he first got sick in April.
Michael also had Retinopathy of Prematurity as an infant, but it is not active retinopathy now just something he will have to be evaluated for once a year. Retinopathy can be serious because a detached retina can cause blindness. Also, Michael is very slightly nearsighted but not anything he needs glasses for because it is mild. Another thing to keep an eye on. Michael also had a repeat Fasting Cortisol level on Friday the 14th because his last cortisol level was 1.4, very low when normal is 6-23). Cortisol is very very important in metabolism, energy, immunity, and handling stress when sick or ill. I will be anxious to hear the results of that as well. We would not be surprised if it was still low because his appetite is zero, and trying to get him to eat or interest him in anything is a challenge at best. Lack of appetite is commonly a symptom of low cortisol. His pulmonary function test also showed evidence of the fatigue Michael struggles with every day as he is unable to get the last of the air into or out of his lungs.

Ahh, deep breath. Okay, that is one. Next...

Joseph's echocardiogram came back and shows his heart has reduced function particularly in his right ventricle which is pumping the blood to his body. Normally the right ventricle only has low pressure and pumps to the lungs. So, Joseph's right ventricle has a high pressure on it because his aorta and pulmonary artery are both reversed. Low heartrates at night and early mornings as low as 39, pauses between his heartbeats of 2.4 seconds, and daily intermittent chest pain - all are not good signs. The cardiologist said that Joseph's heart WILL fail, and the question now is when. Some people live a long time up to 20 years before the heart fails, but Joseph is only 7 years old and already having problems. The options are wait until his heart fails and put him on a transplant list, or do surgery (a Double Switch operation) to repair his heart. My first reaction was that hearts are not too easy to come by, and so of course do the surgery. We have a team of cardiologists who will meet this Wednesday the 18th to discuss this, and we will be interested to learn of their opinions and recommendations. The question is when.

Ahh, Deep Breath. Okay, that is two. Next...

Joshua's eye is doing much better. Dr Sami was gracious to see him and prescribe ointment. Joshua's eye looks much much better. I am thrilled to see the redness go away, and the draining to slow down.

All in all, everyone else is doing okay. We have all recovered from our horrendous bought with the flu (all seven of us). Glad that is over.

Gabriela is enjoying her schoolwork and likes the computer best; her bipolar and ADHD are stable on Abilify and Tenex. She was changed from Seroquel earlier this year because of the weight gain Seroquel causes, and has done really well with the change. Gabriela was also accepted into Camp Opehay this summer, a camp specifically for Bipolar children. I think it will be fabulous for her to see that she is not the only child in the world who has this.

Shawna so funny. She is our little monkey who loves to climb on everything, loves snuggles and Mommy hugs and Daddy hugs, and developmentally above average especially in language development. She has learned how to take off her own diaper and all her clothes, and her new favorite thing is to run through the house naked. It is the funniest thing ever when I am trying to catch her, and she is running nude down the hall yelling and giggling with glee 'naked butt, naked butt'.

We appreciate the little things, as the gas prices are just killing us. My days off these days are filled with doctors appointments, and the parking lady at CHOC knows me as the "All Day" lady since we always need an all day parking pass. Last Friday, we were there literally from 8:00 am to 5:30 pm becuase of the many appointments.

Please pray for our finances, for the kids, and for our family, especially with Joseph facing TWO open heart surgeries. We are praying for a few miracles.

Blessings in Christ our Lord who has helped us endure, given us patience and faith, and shown us the joy in raising FIVE very special children who I am sure will make their mark and change the world for the better,

Jennifer Richardson
richardsonstudios@charter.net
www.richardsonstudios.blogspot.com

For any parent with a special needs child, adopted, biological or caretaker, you are welcome to apply to join our yahoo group. Just go to www.groups.yahoo.com and type in everychildmatters. We are a support system for parents and loved ones of these wonderful kids.

An article on emedicine at http://www.emedicine.com/ped/topic1773.htm describes in PVL in more detail:



Quote



"Periventricular Leukomalacia

Article Last Updated: Feb 14, 2008

References Author: Terence Zach, MD, Department Vice-Chair, Professor, Department of Pediatrics, Section of Newborn Medicine, Creighton UniversityTerence Zach is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and Nebraska Medical AssociationCoauthor(s): James C Brown, MD, Codirector of Pediatric Radiology, Assistant Professor, Department of Radiology, Creighton University School of MedicineEditors: Scott S MacGilvray, MD, Associate Professor, Department of Pediatrics, East Carolina University School of Medicine; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; Arun K Pramanik, MD, MBBS, Professor of Pediatrics, Director of Neonatal Fellowship, Louisiana State University Health Sciences Center; Carol L Wagner, MD, Professor of Pediatrics, Medical University of South Carolina; Ted Rosenkrantz, MD, Head, Division of Neonatal-Perinatal Medicine, Professor, Departments of Pediatrics and Obstetrics/Gynecology, University of Connecticut School of Medicine



Synonyms and related keywords: periventricular leukomalacia, PVL, ischemic brain injury, cerebral palsy, CP, hypotension, ischemia, coagulation necrosis, intracranial hemorrhage, ICH, hypocarbia, vasculitis, chorioamnionitis, cytokines, white matter damage, spastic diplegia, quadriplegia, nystagmus, strabismus, blindness, retinopathy of prematurity, maternal chorioamnionitis, respiratory distress syndrome, pneumonia, patent ductus arteriosus, placental vascular anastomoses, twin gestation, antepartum hemorrhage, sepsis

Background
Periventricular leukomalacia (PVL) is the most common ischemic brain injury in premature infants. The ischemia occurs in the border zone at the end of arterial vascular distributions. The ischemia of PVL occurs in the white matter adjacent to the lateral ventricles. The diagnostic hallmarks of PVL are periventricular echodensities or cysts detected by cranial ultrasonography. Diagnosing PVL is important because a significant percentage of surviving premature infants with PVL develop cerebral palsy (CP), intellectual impairment, or visual disturbances.


Pathophysiology
The pathophysiology of PVL is a complex process. PVL may occur because of ischemia-reperfusion injury to the periventricular area of the developing brain or because of cytokine-induced damage following maternal or fetal infection.


PVL is a white matter lesion in premature infants that may result from hypotension, ischemia, and coagulation necrosis at the border or watershed zones of deep penetrating arteries of the middle cerebral artery. Decreased blood flow affects the white matter at the superolateral borders of the lateral ventricles. The site of injury affects the descending corticospinal tracts, visual radiations, and acoustic radiations. In addition to possible ischemic injury, PVL may be the result of edema fluid and hemorrhage that cause compression of arterioles in the white matter. Reperfusion injury by free radicals to developing oligodendrocytes in the fetal or premature infant's brain may play an important role in the pathogenesis of PVL.


Premature infants have impaired cerebrovascular blood flow autoregulation and are susceptible to intracranial hemorrhage (ICH) as well as PVL. Premature infants on mechanical ventilation may develop hypocarbia. Several studies have linked hypocarbia, particularly in the first few days of life, with the development of PVL.1, 2


The relationship of maternal infection, placental inflammation, and vasculitis to the pathogenesis of PVL remains controversial. Some investigators have demonstrated an association of chorioamnionitis and cytokines with PVL although others have not.3


Following the initial insult, whether ischemia-mediated or cytokine-mediated, white matter damage occurs. The white matter damage likely occurs because of selective loss of oligodendrocytes.

Frequency
United States
Incidence of PVL ranges from 4-26% in premature infants in neonatal intensive care units (NICUs).
Incidence of PVL is much higher in reports from autopsy studies of premature infants.
As many as 75% of premature infants have evidence of PVL on postmortem examination.

Mortality/Morbidity
Cerebral palsy: Approximately 60-100% infants with PVL later develop signs of CP. Spastic diplegia is the most common form of CP following mild PVL. Severe PVL is frequently associated with quadriplegia.
Intellectual impairment: Varying degrees of intellectual impairment, developmental impairment, or both have been reported in association with PVL.
Visual dysfunction: Fixation difficulties, nystagmus, strabismus, and blindness have been associated with PVL. Some cases of visual dysfunction in association with PVL occur in the absence of retinopathy of prematurity, suggesting damage to optic radiations as causation.

Age
PVL occurs most commonly in premature infants younger than 32 weeks' gestation at birth.

CLINICAL
History
Periventricular leukomalacia (PVL) occurs most commonly in premature infants born at less than 32 weeks' gestation who have a birth weight of less than 1500 g. Many of these infants have a history of maternal chorioamnionitis. Most affected infants experience cardiorespiratory problems, such as respiratory distress syndrome or pneumonia, in association with hypotension or patent ductus arteriosus during their first days of life. Bacterial infection at birth also appears to be a risk factor.


Physical
Initially, most premature infants are asymptomatic. If symptoms occur, they usually are subtle. Symptoms may include the following:
Decreased tone in lower extremities
Increased tone in neck extensors
Apnea and bradycardia events
Irritability
Pseudobulbar palsy with poor feeding
Clinical seizures (may occur in 10-30% of infants)

Causes
Mechanically ventilated premature infants born at less than 32 weeks' gestation are at greatest risk for PVL.
Hypotension, hypoxemia, and acidosis may result in ischemic brain injury and PVL.
Marked hypocarbia in ventilated premature infants has been associated with increased risk of developing PVL.
Other associated risk factors include the following:
Placental vascular anastomoses, twin gestation, antepartum hemorrhage
Chorioamnionitis and funisitis
Sepsis
Maternal cocaine abuse

DIFFERENTIALS


Other Problems to be Considered
Intraventricular hemorrhagePeriventricular hemorrhagic venous infarction


Imaging Studies
Cranial ultrasonography
Cranial ultrasonography is the modality of choice for the initial evaluation of hypoxic-ischemic damage of the CNS in premature infants. Ultrasonography may be performed in the NICU without the need to transport fragile infants.
The earliest ultrasonographic appearance of periventricular leukomalacia (PVL) is abnormal increased echotexture in the periventricular white matter. This is a nonspecific finding that must be differentiated from the normal periventricular halo and mild periventricular edema that may not result in permanent injury.
The abnormal periventricular echotexture of PVL usually disappears at 2-3 weeks. Approximately 15% of infants experiencing PVL demonstrate periventricular cysts first appearing at 2-3 weeks after the initial increased echodensities.
The severity of PVL is related to the size and distribution of these cysts. Initial cranial ultrasonographic findings may be normal in patients who go on to develop clinical and delayed imaging findings of PVL.
CT scanning: CT scanning is not a first-line modality in evaluating these fragile premature infants in the first weeks of life. CT scanning may be helpful to better evaluate the extent and severity of PVL. Findings include ventriculomegaly involving the lateral ventricles with irregular margins of the ventricles and loss of deep white matter.


MRI: Like CT scanning, MRI does not play a major role in the early evaluation of PVL. MRI is most helpful in monitoring infants with suspected PVL and evaluating infants who develop clinical signs suggestive of PVL. MRI demonstrates the loss of white matter, abnormal signal intensity of the deep white matter, and ventriculomegaly. MRI demonstrates thinning of the posterior body and splenium of the corpus callosum in severe cases of PVL. Volumetric MRI scanning is also helpful in determining the extent of injury to the descending corticospinal tracts. A relationship between the degree of injury to the descending corticospinal tracts as assessed by MRI and the severity of diplegia has been reported.

Other Tests
EEG

Histologic Findings
PVL lesions demonstrate widespread loss of oligodendrocytes and an increase in astrocytes.

TREATMENT


Medical Care
No medical treatment is currently available. Free radical scavengers are being investigated to determine if they have a role in preventing oligodendrocyte injury in periventricular leukomalacia (PVL).
Consultations
Infants with PVL require close neurodevelopmental follow-up after discharge from the hospital. Potential consultants include pediatricians, developmental specialists, neurologists, and occupational and physical therapists.


FOLLOW-UP

Further Outpatient Care
Developmental follow-up: Premature infants with evidence of periventricular leukomalacia (PVL) require close developmental follow-up because of the high association with CP.
Early intervention strategies carried out by occupational therapists or physical therapists may decrease symptoms and may increase the infant's motor function.

Deterrence/Prevention
Prevention of premature birth is the most important means of preventing PVL.
Prior to birth, diagnosing and managing chorioamnionitis may prevent PVL. In 1999, Baud et al reported that betamethasone administered to mothers at 24-31 weeks' gestation, before delivery, significantly reduced the risk of PVL, suggesting the possible effect of steroids on fetal inflammatory response.4, 5
Avoiding maternal cocaine abuse and avoiding maternal-fetal blood flow alterations has been suggested to minimize PVL.
Following delivery of a premature infant, attempts to minimize blood pressure (BP) swings and hypotension may also be beneficial in preventing PVL.
Avoidance of prolonged hypocarbia in the mechanically ventilated premature infant may be useful in the prevention of PVL.

Prognosis
Infants with PVL are at risk for development of neurodevelopmental deficits. Mild PVL is often associated with spastic diplegia. Severe PVL is associated with quadriplegia. Severe PVL is also associated with a higher incidence of intelligence deficiencies and visual disturbances.

MISCELLANEOUS
Medical/Legal Pitfalls
Timing of initial cranial ultrasonography can be useful in determining the timing of the insult. Cystic PVL has been identified on cranial ultrasounds on the first day of life, indicating that the event was prenatal rather than perinatal or postnatal.

MULTIMEDIA
Media file 1: Cranial ultrasound, coronal view, in 1-week-old premature infant. The periventricular echotexture is abnormally increased (greater than or equal to that of the choroid plexus), which is consistent with the early changes of periventricular leukomalacia (PVL). Courtesy of Matthew Omojola, MD.

Media type: Ultrasound
Media file 2: Cranial ultrasound, coronal view, in 1-week-old premature infant without periventricular leukomalacia (PVL). The periventricular echotexture is normal. Compare with Media file 1. Courtesy of Matthew Omojola, MD.

Media type: Ultrasound
Media file 3: Cranial ultrasound, coronal view, in a 3-week-old premature infant. Multiple bilateral periventricular cysts are typical of this stage of periventricular leukomalacia (PVL). Courtesy of Matthew Omojola, MD.

Media type: Ultrasound
Media file 4: Cranial ultrasound, sagittal view, in 3-week-old premature infant. Multiple periventricular cysts are typical of this stage of periventricular leukomalacia (PVL). Courtesy of Matthew Omojola, MD.

Media type: Ultrasound
Media file 5: Cranial CT scan, axial image, in a 5-week-old premature infant with periventricular leukomalacia (PVL). The ventricular margins are irregular, which is consistent with incorporation of the periventricular cysts of PVL. Mild ventriculomegaly and loss of the periventricular white matter is observed. Courtesy of Matthew Omojola, MD.

Media type: CT
Media file 6: Cranial CT scan, axial image, in 14-month-old with periventricular leukomalacia (PVL). Ventriculomegaly is limited to the lateral ventricles secondary to diffuse loss of periventricular white matter. Courtesy of Matthew Omojola, MD.

Media type: CT
Media file 7: Cranial MRI, T1-weighted axial image, in an 18-month-old with periventricular leukomalacia (PVL). The lateral ventricles are enlarged without hydrocephalus. The periventricular white matter is diminished. Courtesy of Matthew Omojola, MD.

Media type: MRI
Media file 8: Cranial MRI, T2-weighted axial image, in an 18-month-old with periventricular leukomalacia (PVL). Again, enlarged ventricles and loss of white matter are demonstrated. Also noted is the abnormal increased signal in the periventricular regions on this T2-weighted image. Courtesy of Matthew Omojola, MD.

Media type: MRI
Media file 9: Cranial MRI, sagittal T1-weighted image in the midline, in an 18-month-old with periventricular leukomalacia (PVL). Hypoplasia of the corpus callosum is present and is most evident, involving the body. Courtesy of Matthew Omojola, MD.

Media type: MRI



References
Okumura A, Hayakawa F, Kato T, et al. Hypocarbia in preterm infants with periventricular leukomalacia: the relation between hypocarbia and mechanical ventilation. Pediatrics. Mar 2001;107(3):469-75. [Medline]. [Full Text].
Wiswell TE, Graziani LJ, Kornhauser MS, et al. Effects of hypocarbia on the development of cystic periventricular leukomalacia in premature infants treated with high-frequency jet ventilation. Pediatrics. Nov 1996;98(5):918-24. [Medline].
Kaukola T, Herva R, Perhomaa M, et al. Chorioamnionitis and cord serum proinflammatory cytokines: lack of association with brain damage and neurologic outcomes in very preterm infants. Pediatr Res. 2005;[Medline].
Baud O, Foix-L'Helias L, Kaminski M, et al. Antenatal glucocorticoid treatment and cystic periventricular leukomalacia in very premature infants. N Engl J Med. Oct 14 1999;341(16):1190-6. [Medline].
Canterino JC, Verma U, Visintainer PF, et al. Antenatal steroids and neonatal periventricular leukomalacia. Obstet Gynecol. Jan 2001;97(1):135-9. [Medline].
Bass WT, Jones MA, White LE, et al. Ultrasonographic differential diagnosis and neurodevelopmental outcome of cerebral white matter lesions in premature infants. J Perinatol. Jul-Aug 1999;19(5):330-6. [Medline].
Baud O, d'Allest AM, Lacaze-Masmonteil T, et al. The early diagnosis of periventricular leukomalacia in premature infants with positive rolandic sharp waves on serial electroencephalography. J Pediatr. May 1998;132(5):813-7. [Medline].
Dammann O, Hagberg H, Leviton A. Is periventricular leukomalacia an axonopathy as well as an oligopathy?. Pediatr Res. Apr 2001;49(4):453-7. [Medline]. [Full Text].
Dammann O, Leviton A. Brain damage in preterm newborns: might enhancement of developmentally regulated endogenous protection open a door for prevention?. Pediatrics. Sep 1999;104(3 Pt 1):541-50. [Medline]. [Full Text].
de Vries LS, Regev R, Dubowitz LM, et al. Perinatal risk factors for the development of extensive cystic leukomalacia. Am J Dis Child. Jul 1988;142(7):732-5. [Medline].
De Vries LS, Van Haastert IL, Rademaker KJ, et al. Ultrasound abnormalities preceding cerebral palsy in high-risk preterm infants. J Pediatr. Jun 2004;144(6):815-20. [Medline].
Enzmann DR. Imaging of neonatal hypoxic-ischemic cerebral damage. In: Stevenson DK, Sunshine P, eds. Fetal and Neonatal Brain Injury: Mechanisms, Management, and the Risk of Practice. 2nd ed. Oxford, England: Oxford University Press; 1997:302-55.
Hahn JS, Novotony EJ Jr. Hypoxic-ischemic encephalopathy. In: Stevenson DK, Sunshine P, eds. Fetal and Neonatal Brain Injury: Mechanisms, Management, and the Risk of Practice. 2nd ed. Oxford, England:. Oxford University Press;1997:277-286.
Hayakawa F, Okumura A, Kato T, et al. Determination of timing of brain injury in preterm infants with periventricular leukomalacia with serial neonatal electroencephalography. Pediatrics. Nov 1999;104(5 Pt 1):1077-81. [Medline]. [Full Text].
Haynes RL, Baud O, Li J, et al. Oxidative and nitrative injury in periventricular leukomalacia: a review. Brain Pathol. 2005;15:225-233. [Medline].
Kuban K, Sanocka U, Leviton A, et al. White matter disorders of prematurity: association with intraventricular hemorrhage and ventriculomegaly. The Developmental Epidemiology Network. J Pediatr. May 1999;134(5):539-46. [Medline].
Leviton A, Paneth N, Reuss ML, et al. Maternal infection, fetal inflammatory response, and brain damage in very low birth weight infants. Developmental Epidemiology Network Investigators. Pediatr Res. Nov 1999;46(5):566-75. [Medline].
Liao SL, Lai SH, Chou YH, Kuo CY. Effect of hypocapnia in the first three days of life on the subsequent development of periventricular leukomalacia in premature infants. Acta Paediatr Taiwan. Mar-Apr 2001;42(2):90-3. [Medline].
Murata Y, Itakura A, Matsuzawa K, et al. Possible antenatal and perinatal related factors in development of cystic periventricular leukomalacia. Brain Dev. 2005;27:17-21. [Medline].
Paul DA, Pearlman SA, Finkelstein MS, Stefano JL. Cranial sonography in very-low-birth-weight infants: do all infants need to be screened?. Clin Pediatr (Phila). Sep 1999;38(9):503-9. [Medline].
Shankaran S. Hemorrhagic lesions of the central nervous system. In: Stevenson DK, Sunshine P, eds. Fetal and Neonatal Brain Injury: Mechanisms, Management, and the Risk of Practice. 2nd ed. Oxford, England: Oxford University Press; 1997:151-64.
Volpe JJ. Brain injury in the premature infant: overview of clinical aspects, neuropathology, and pathogenesis. Semin Pediatr Neurol. Sep 1998;5(3):135-51. [Medline]. "



Unquote

FAQ's on DCC

According to http://www.nodcc.org/ the state, quote:



"Frequently Asked Questions

Can ACC be cured? Structural diagnosis vs. behavioral syndromesWho can diagnose ACC?What causes ACC?Will ACC get worse?Why does my child have ACC?
Can ACC be cured? Stem-cell research has raised expectations and hopes that we may find “cures” for some forms of nervous system damage and developmental abnormalities. At this time, it does not seem likely that DCC will be impacted by such interventions. This is due to the large number of steps in the process of development of the corpus callosum that would need to be re-instituted. Another factor is that the brain already has organized without the corpus callosum. Overall, disorders of the corpus callosum are conditions one must “learn to live with” rather than “hope to recover from.” Long-term challenges are associated with absence of the corpus callosum, but this in no way suggests that individuals with DCC cannot lead productive and meaningful lives
Top Structural diagnosis vs. behavioral syndromes
DCC are physical diagnoses based solely on an anatomical reality, the absence of the corpus callosum. This does not mean that DCC do not have behavioral characteristics, they clearly do. However, DCC is not a “behavioral” diagnosis such as Attention Deficit Hyperactivity Disorder (ADHD), Non-Verbal Learning Disability, Autism, or Asperger’s Syndrome. In contrast to DCC, these syndromes are diagnosed strictly based on unusual or abnormal behaviors. Although much research has been done, it is not clear what, if anything, is structurally wrong with the brain in most of these disorders. On the other hand, the diagnosis of DCC is clear and unambiguous. Once an embryo passes the 16th week, if the corpus callosum isn’t there, the diagnosis is permanent. At this point, the absence of the corpus callosum is visibly evident on brain scans.
Top Who can diagnose ACC?
ACC/DCC must be diagnosed by viewing the brain, either with MRI, Computerized Axial Tomography (CT-scan or CAT scan), or pre/post-natal sonogram (ultrasound). Among these, MRI is clearly best to see DCC and any other brain abnormalities. Absence of the corpus callosum can be seen at any age after the critical period of prenatal development. A neurologist or other physician may request an MRI or CT scan of the brain. An obstetrician or neonatal specialist may request an extensive pre-natal or post-natal sonogram or MRI. The pictures typically will be examined by a neuroradiologist or pediatric neuroradiologist, who will write a report describing any unusual findings. A neurologist or other physician also may examine the scan and diagnose DCC. If that is the case, it is always wise to have a neuroradiologist re-examine the pictures to verify the diagnosis and carefully assess for any other possible abnormalities. DCC itself cannot be detected by amniocentesis.
Top What causes ACC?
ACC/DCC does not have a single cause. In fact, there are multiple factors that may be involved in disrupting the formation of the corpus callosum. Among the suggested causal factors are genetics, metabolic disorders, and structural interruptions. Brain cells may not get the chemical guidance needed to grow in the right direction, possibly because of a faulty gene. Similarly, the nerve cells may not reach their destination due to lack of oxygen, poor nutrition, toxic chemicals (for example, alcohol or drugs), infections, or metabolic disturbance. Finally, the development of the corpus callosum may be stopped by some other developmental process that interrupts the initial crossing-point of callosal fibers. In these individuals, DCC may be accompanied by cysts or lipomas. There are no known medical conditions in which DCC is always present.
Some of the conditions in which DCC is usually present are: Aicardi Syndrome, Shapiro Syndrome, Acrocallosal Syndrome, Mowat-Wilson Syndrome, and Toriello Carey Syndrome.
Some of the conditions in which DCC is sometimes present are: Fetal Alcohol Syndrome, intra-uterine infections, maternal riboflavin/ folate/ or niacin deficiency, Dandy-Walker Syndrome, Andermann Syndrome, Arnold-Chiari II Malformation, Holoprosencephaly, Hirschsprung Disease, Occulo-Cerebro-Cutaneous Syndrome, Menkes Disease, Hydrocephalus, and others.
Top Will ACC get worse?
Physically, complete ACC is a condition that does not change. It will not get worse. Since the corpus callosum is already absent, it cannot regenerate or degenerate. Likewise, in partial ACC and hypoplasia, once the infant’s brain is developed, no new callosal fibers will emerge.
Behaviorally, however, individuals with ACC/DCC may fall behind their peers in social and problem solving skills in elementary school or as they approach adolescence. In typical development, the fibers of the corpus callosum become more efficient as children approach adolescence. At that point children with an intact corpus callosum show rapid gains in abstract reasoning, problem solving, and social comprehension. Although a child with DCC may have kept up with his or her peers until this age, as the peer-group begins to make use of an increasingly efficient corpus callosum, the child with DCC falls behind in mental and social functioning. In this way, the behavioral challenges for individuals with DCC may become more evident as they grow older.
Top Why does my child have ACC?
Many parents worry that they may have caused their child to have brain damage or may fear that it is a condition that will recur in future children. In addressing those questions, it is important to remember that it is usually impossible to establish the reason a particular child has DCC.
Genetic testing may reveal a genetic abnormality or syndrome that is the underlying cause of the DCC. In these cases, the parents or the individual with DCC will want to consult a genetic counselor prior to becoming pregnant with another child.
In the absence of an identified genetic abnormality, it is extremely difficult to find a specific cause of DCC. Multiple possible causes appear to exist, and genetic testing does not always reveal what that cause might be. If it is not genetic, it was caused by something that happened during the first trimester of pregnancy. While it is understandable that parents will want to know “why this happened,” in many cases they may never know. Therefore it may be important to shift the focus from asking “why?” to asking “what can we do to cope with the diagnosis?” and “how can we best help our child?”



" Unquote.



Jennifer

DCC or Disorders of the Corpus Callosum

DCC is a structural abnormality of the brain.



According to http://www.nodcc.org/ (The National Organization for Disorders of the Corpus Callosum):



"What is the Corpus Callosum?

The corpus callosum (call ō sum) is the largest connective pathway in a human brain. It is made of more than 200 million nerve fibers that connect the left and right sides (hemispheres) of the brain.
If we cut a brain in half down the middle, we would also cut through the fibers of the corpus callosum. When looking at the middle side of one half of the brain, for example, in magnetic resonance imaging (MRI), the corpus callosum looks like a cross-section of a mushroom cap at the center of the brain."



"Characteristics :

Physically, complete ACC is a condition that does not change. It will not get worse. Since the corpus callosum is already absent, it cannot regenerate or degenerate. Likewise, in partial ACC and hypoplasia, once the infant's brain is developed, no new callosal fibers will emerge.
In that sense, disorders of the corpus callosum are conditions one must "learn to live with" rather than "hope to recover from." Long-term challenges are associated with malformation of the corpus callosum, but this in no way suggests that individuals with DCC cannot lead productive and meaningful lives.
What are the common developmental problems that may occur with disorders of the corpus callosum?
Behaviorally individuals with DCC may fall behind their peers in social and problem solving skills in elementary school or as they approach adolescence. In typical development, the fibers of the corpus callosum become more efficient as children approach adolescence. At that point children with an intact corpus callosum show rapid gains in abstract reasoning, problem solving, and social comprehension. Although a child with DCC may have kept up with his or her peers until this age, as the peer-group begins to make use of an increasingly efficient corpus callosum, the child with DCC falls behind in mental and social functioning. In this way, the behavioral challenges for individuals with DCC may become more evident as they grow into adolescence and young adulthood.
Behavioral Characteristics Related to DCC
This is an overview of the behavioral characteristics which are often evident in individuals with DCC.
Delays in attaining developmental milestones (for example, walking, talking, reading). Delays may range from very subtle to highly significant.
Clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet (for example, swimming, bike riding, tying shoes, driving).
Atypical sensitivity to particular sensory cues (for example, food textures, certain types of touch) but often with a high tolerance to pain.
Difficulties on multidimensional tasks, such as using language in social situations (for example, jokes, metaphors), appropriate motor responses to visual information (for example, stepping on others' toes, handwriting runs off the page), and the use of complex reasoning, creativity and problem solving (for example, coping with math and science requirements in middle school and high school, budgeting).
Challenges with social interactions due to difficulty imagining potential consequences of behavior, being insensitive to the thoughts and feelings of others, and misunderstanding social cues (for example, being vulnerable to suggestion, gullible, and not recognizing emotions communicated by tone of voice).
Mental and social processing problems become more apparent with age, with problems particularly evident from junior high school into adulthood.
Limited insight into their own behavior, social problems, and mental challenges.
These symptoms occur in various combinations and severity. In many cases, they are attributed incorrectly to one or more of the following: personality traits, poor parenting, ADHD, Asperger's Syndrome, Nonverbal Learning Disability, specific learning disabilities, or psychiatric disorders. It is critical to note that these alternative conditions are diagnosed through behavioral observation. In contrast, DCC is a definite structural abnormality of the brain diagnosed by an MRI. These alternative behavioral diagnoses may, in some cases, represent a reasonable description of the behavior of a person with DCC. However, they misrepresent the cause of the behavior. "

NINDS Periventricular Leukomalacia Information

What is Periventricular Leukomalacia?

Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.

Is there any treatment?
There is no specific treatment for PVL. Treatment is symptomatic and supportive. Children with PVL should receive regular medical screenings to determine appropriate interventions.

What is the prognosis?
The prognosis for individuals with PVL depends upon the severity of the brain damage. Some children exhibit fairly mild symptoms, while others have significant deficits and disabilities.

What research is being done?
The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders.

Organizations
National Organization for Rare Disorders (NORD)P.O. Box 1968(55 Kenosia Avenue)Danbury, CT 06813-1968orphan@rarediseases.orghttp://www.rarediseases.org/Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)Fax: 203-798-2291

Related NINDS Publications and Information
NINDS Cerebral Palsy Information PageCerebral palsy information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Cerebral Palsy: Hope Through Research
Cerebral palsy information booklet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Publicaciones en Español

La Parálisis Cerebral: Esperanza en la Investigación
Prepared by:Office of Communications and Public LiaisonNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated February 07, 2008

Hypoplasia of the Corpus Callosum Information

According to the NODCC, Hypoplasia of the Corpus Callosum (also known as thinning of the Corpus Callosum) is:

"Hypoplasia refers to a thin corpus callosum. On a mid-line view of the brain, the structure may extend through the entire area front-to-back as would a typical corpus callosum, but it looks notably thinner. It is unclear in this case if the callosal nerve fibers are fully functional and just limited in number, or if they are both less plentiful and more dysfunctional. "

NINDS Craniostenosis Information

What is Craniosynostosis?
Craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. The abnormally shaped skull that results is due to the brain not being able to grow in its natural shape because of the closure. Instead it compensates with growth in areas of the skull where the cranial sutures have not yet closed. The condition can be gene-linked, or caused by metabolic diseases, such as rickets or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or mental retardation, which are caused by constriction of the growing brain. Seizures and blindness may also occur.

Is there any treatment?
Treatment for craniosynostosis generally consists of surgery to relieve pressure on the brain and the cranial nerves. For some children with less severe problems, cranial molds can reshape the skull to accommodate brain growth and improve the appearance of the head.

What is the prognosis?
The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.

What research is being done?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of early neurological development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and offers hope for new ways to treat and prevent brain birth defects, including craniosynostosis.
Select this link to view a list of studies currently seeking patients.

Organizations
March of Dimes Foundation1275 Mamaroneck AvenueWhite Plains, NY 10605askus@marchofdimes.comhttp://www.marchofdimes.comTel: 914-428-7100 888-MODIMES (663-4637)Fax: 914-428-8203
Children's Craniofacial Association13140 Coit RoadSuite 307Dallas, TX 75240http://www.ccakids.comTel: 800-535-3643 214-570-9099Fax: 214-570-8811
The Arc of the United States1010 Wayne AvenueSuite 650Silver Spring, MD 20910Info@thearc.orghttp://www.thearc.orgTel: 301-565-3842Fax: 301-565-3843 or -5342
National Organization for Rare Disorders (NORD)P.O. Box 1968(55 Kenosia Avenue)Danbury, CT 06813-1968orphan@rarediseases.orghttp://www.rarediseases.orgTel: 203-744-0100 Voice Mail 800-999-NORD (6673)Fax: 203-798-2291
Prepared by:Office of Communications and Public LiaisonNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Last updated February 12, 2007

NHANES Microcephaly

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National Institute of Neurological Disorders and Stroke
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NINDS Microcephaly Information Page

Microcephaly

NINDS is part of theNational Institutes ofHealth

What is Microcephaly?
Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chicken pox) virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria (PKU). Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy. Depending on the severity of the accompanying syndrome, children with microcephaly may have mental retardation, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities. Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.

Is there any treatment?
There is no treatment for microcephaly that can return a child’s head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies

What is the prognosis?
Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.

What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to microcephaly in its laboratories at the National Institutes of Health (NIH) and supports additional research through grants to major medical institutions across the country. A small group of researchers studying a rare neurometabolic syndrome (3-PGDH), which causes microcephaly, have successfully used amino acid replacement therapy to reduce and prevent seizures.

Select this link to view a list of studies currently seeking patients.

Organizations
The Arc of the United States1010 Wayne AvenueSuite 650Silver Spring, MD 20910Info@thearc.orghttp://www.thearc.orgTel: 301-565-3842Fax: 301-565-3843 or -5342
Birth Defect Research for Children, Inc.800 Celebration AvenueSuite 225Celebration, FL 34747betty@birthdefects.orghttp://www.birthdefects.orgTel: 407-566-8304Fax: 407-566-8341
March of Dimes Foundation1275 Mamaroneck AvenueWhite Plains, NY 10605askus@marchofdimes.comhttp://www.marchofdimes.comTel: 914-428-7100 888-MODIMES (663-4637)Fax: 914-428-8203
National Dissemination Center for Children with DisabilitiesU.S. Dept. of Education, Office of Special Education ProgramsP.O. Box 1492Washington, DC 20013-1492nichcy@aed.orghttp://www.nichcy.orgTel: 800-695-0285Fax: 202-884-8441
Prepared by:Office of Communications and Public LiaisonNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Last updated February 13, 2007
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Head Circumference

The link is for a head circumference chart from the CDC. To get an idea of how small Joseph's head is, looking at this chart is a good tool. At the 50th percentile, Joseph's head is the same size as your typical average 12 month old. Even at the 3rd percentile, Joseph's head size is still only the size of a 36 month old child (3 years old). That is the Microcephaly. We also see his skills academically are at about that same level as well, 36 months, thus the reason for the intensive one on one learning. Joseph does much better when it is visual, hands on and one on one. Not something you can find in most schools, and certainly none in our area.



Jennifer

Joseph's Genetics Appointment

Joseph had an appointment with a genetics physician today. He did have an evaluation in Atlanta, Georgia, and was found to be negative for Williams and DiGeorge Syndromes. Joseph's doctors in California felt it was valuable to have him followed also by the physician here.



The genetics doctor at Children's Hospital of Orange County (CHOC) said there was no need to repeat the blood testing, which we expected. However we did also find out some other information.



Joseph has Microcephaly and his brain growth is at a much slower rate than the norm. His Craniostenosis will not prevent brain growth in and of itself. His brain will continue to grow at its own rate, it would just cause his head to be mis-shapen. The Microcephaly and the Craniostenosis are separate problems though.



Joseph will also be referred to Endocrinology for his own very short stature, although that appointment won't happen for at least 3 months.



They also confirmed the diagnosis of Fetal Alcohol Syndrome, and that Joseph is on the more severe end of the spectrum. Having the additional report will also help for other services he needs.



We have found that Joseph really needs the very intensive one on one that he receives educationally being homeschooled.



Jennifer

Joseph's Birthday Pictures Coming Soon !

Upcoming Appointments

Michael has a pulmonary function test on Friday. He has been doing well enough, and his own chest pain getting less and less often. We actually expect that will probably come back normal, but is a good idea to get it checked out anyway.

Michael also has an opthalmology appointment for his ongoing problems with headaches. Boy, we were so relieved that he has NO brain tumors. But his long term struggles with headaches is something we would like to unravel the mystery of.


Jennifer

Praises

Michael's skin seems to be doing better lately. We very clearly can see he gets ill the next day with fatigue and joint pain and occasional rash across his face when he goes out in the sun for longer periods of time. He seems to do ok in short periods though, and he is doing better inside with normal lights. It at least makes dressing more comfortable for him. We have also noticed him wearing his sunglasses a bit less often.

Gabriela started wearing her glasses of her own accord. It had been a real battle in the past, so we took a break from requiring she wear them. She has matured in that way in many respects, and have been very very pleased with her choice to wear them again regularly.

Joseph had his birthday today and his chest pain went away as we started his birthday party !! Yeah. We were concerned because of his chest pain early in the day. He was very excited to rip open his gifts.

Joshua enjoyed running around and eating the caramel topped ice cream today the most.

Shawna is using more and more sentences, and still as cute as ever.

Scott and I - well, we have gas in the car, and that we appreciate.

Jennifer

Michael's Cortisol Levels

Please keep Michael in prayers as his cortisol levels are very low (1.4). We are waiting to hear about the ACTH stimulation test he will have some time within the next couple months. Cortisol is critical to life. You just got to have it. It is important in our bodies ability to handle stress, metabolism, immunity. So while Michael is holding his own and active now, we want him to stay that way and his cortisol levels to go back to normal.

Jennifer

Joseph's Heart

Well, sigh !

We received a phone call from the cardiologist today with the results of Joseph's echocardiogram. We already know he has regular chest pain every day or every other day because he tells us. We also know that he has 2.4 second pauses between his heartbeats, which is longer than normal. We also know that Joseph already had two heart surgeries so far, and that his right ventricle (which normally pumps under low pressure to the lungs) is pumping under high pressure to the body because his vessels are still backwards.

The echocardiogram showed decreased functioning of his right ventricle. We found out that his heart WILL fail at some point. We just don't know when. Some people with his condition live a long time the his heart was corrected, and some not.

Our choices were 1. Wait until his heart fails and put him on a transplant list. 2. Do surgery, a Double Switch Procedure, to correct his heart. It is a two stage (meaning two surgeries) procedure and would maintain the function he still has once he had completed it. The success rate and long term survival rates are really good, but it is a highly complex and highly risky surgery.

Option one is just not an option. I mean, come on, hearts are just not that easy to come by these days. So, we know he will need surgery. The question then is when to do the surgery, not if. The cardiologists will review his case at conference next Wednesday and way the pros and cons. We will find out their recommendations at the end of next week. Also, we are wondering if they will put in a pacemaker during surgery since we already know his sinus node with the pauses is compromised.

Please keep our Joseph in prayer. That is a lot for a seven year old boy to go through as we anticipate surgery this upcoming year.

Please keep us in prayer in the decision process. It seems pretty simple, but decisions like this rarely are. The high risk of surgery vs. the high risk of waiting.

Jennifer

Praying for Joshua's Eye

Joshua's poor little eye is red and infected. We have eye drops, but it looks so sore and uncomfortable. He is a trooper, and has kept his joy. Please pray for speedy healing of Joshua's eye.

Jennifer

Update on Michael

Michael had his echocardiogram on his heart, and it was normal. Praise God. So the chest pain appears to be muscular in nature. Not that that makes Michael feel any better, but at least it is not more serious.
Michael also had a visit with the hematologist for his Evan's Syndrome, and his platelets on 05-29-08 were 212 (still normal). The doctors were able to wean Michael off the Prednisone, and he has done well with that.

Michael saw endocrinology the same day. Some of the things of concern were Michael's growth curve, which appears to be tapering off, his headaches and vomitting, and the pain in Michael's sides and back.

Michael's growth is extremely delayed as well as his development. His growth factors in his blood work were low, and his bone age is also 2 and 1/2 years delayed. Michael will be starting Growth Hormone in a couple of months.

Children can have short stature due to premature birth, intrauterine growth retardation (IUGR), and failure to thrive among other things. The doctors suspect Michael has had all of those based on what we know from his background. Growth hormone can often help these kids. Children with IUGR if it is caught by the time they are 3 years old, can be treated and grow to normal heighth. If it is not, then often they are very very short.

Growth hormone is given as a daily subqutaneous injection, and Michael would start at 12 years old and continue the injections until he completely stopped growing maybe 18 years old.

The endocrinologists also wanted to rule out tumors of Michael's brain, hypothalamus and pituitary, and ordered an MRI stat. Michael had that done last Monday, and PRAISE GOD that came back NORMAL !! Waiting for that was a killer. Can you imagine a doctor telling you 'we need to check for brain tumors'? Glad they did, and glad he doesn't.

And then, a lot of blood work was drawn. Michael's thyroid is holding its own right now. Good news. His Cortisol level was only 1.4 though. Cortisol is a hormone released by the adrenal glands. ACTH in the hypothalamus in the brain triggers the release of cortisol. Cortisol is critical to life. You absolutely have to have it or you go into shock and die. Normal levels of Cortisol in the blood range from 6 to 23 depending on the lab that does the test. So, Michael's is really really low. Cortisol helps regulate metabolism, stress, immune function, sodium and potassium, and not enough of it can cause many symptoms such as lethargy, weakness, nausea, vomitting, high fever, lack of appetite. We are crossing our fingers and hoping Michael's cortisol is low because he was on Prednisone which may have surpressed the levels. Prednisone, in my understanding, can cause this also though.

Michael struggles with not feeling hungry, not feeling thirsty, nausea, vomitting, feeling tired and weak. So, we are keeping an eye on him. The important thing is to make sure Michael does not go into Adrenal Crisis where the body is not making enough Cortisol to sustain life; that would be very dangerous. Endocrinology is going to do an ACTH stimulation test to check if his body makes enough cortisol. We will be glad to know those results.

He still struggles with all kinds of joint pain, sun exposure, heat intolerance, bright lights, loud noises, touch taste and smell sensitivities, and GI problems. We are learning how to cope with each and how to help him each day. Still not done with the testing for autism.

Michael is just tired of being sick. But at least we are having more good days than bad days right now.

Blessings to all,

Jennifer