Thursday, January 21, 2010

No new news

So I went on Monday for the chromosome test. I thought we would do another ultrasound but we didn't. Dr. Stanley told me there was no reason to continue sseign him as a specialist. He said I could go back to Dr. Maarouf. She has kindly agreed to deliver Kamil. This will be easier because Pepper my friend and nurse who delivered Yahya will be there. We'll be a baptist so we'll also have the same bereavement lady Barb.

I'm starting to get over the depression. At first I really didn't know how to keep going but I did. Now it's not so hard. I have to admit I feel like a walking dead person. I know I'm not going to die but part of me is. He is so strong right now though. He moves and kicks ALL the time. I don't remeber Ali moving this much. I think it's a reminder that he is still alive he's not gone yet.

I still haven't figured out how to answer the question " How are you doing?" I mean fine is the first thing that comes to my head but fine is not honest but then I don't want to keep crying everytime I turn the corner at work. I have received soo many responses from my Facebook thread. I really appreciate the emails. I have cried while reading so many of them. I really appreciate everyone's support and genuine care.

Monday, January 18, 2010

On Thursday I went for another bladder tap. The bladder was full again. The test results came back from the amniocentesis. The results were negative for any chromosomal defects or abnormalities. So this was one step closer to the shunt procedure. The fluid taken on Thursday was to be tested for kidney function and electrolyte levels. The baby looks good.

Monday the test results were in for kidney function. Both kidney's are severly damaged and all the level readings were off by alot. So Kamil is not a candidate for the shunt procedure. There is nothing we can do but wait it out from here. I have another appointment today to check on Kamil and see how he is doing.

The Dr. did find something on Kamil's chromosome 2. Mary from the office said there was an inversion on chromo 2. It probaly means nothing and she said it was a very common thing found in chromosome testing and it is most likely unrelated to Kamil's condition but we are doing more testing to find out what exactly it could mean.

The due date is still May 22 all his measurements are on with the dates so that is a good sign b/c he is still growing and thriving... inside.

Thursday, January 7, 2010

What is LUTO?

Fetal lower urinary tract obstruction (LUTO) is a rare condition that is caused by a blockage of fetal urination. Because the baby cannot empty the bladder, the baby’s bladder subsequently becomes very large and inflated. Also, because the amniotic fluid is essentially composed of the baby’s urine beyond the middle of the second trimester, the bag of waters dries up. A cascade of secondary effects result in significant morbidity and/or mortality for the baby. This includes problems to the urinary collection system (hydronephrosis) and kidneys (renal dysplasia) attributed to the backpressure from the urinary blockage. Underdevelopment of the lungs (pulmonary hypoplasia) develops from the lack of amniotic fluid during a critical time of the pregnancy.The cause of fetal LUTO is varied. The most common cause in male fetuses is posterior urethral valves (membrane blocks the flow of urine from the bladder). Oligohydramnios (low amniotic fluid volume defined as the maximum vertical pocket less that or equal to 2.0 centimeters) may then develop, and is associated with a worse prognosis. In females the most common cause is urethral atresia (a body orifice or passage in the body is abnormally closed or absent). Other causes of fetal LUTO include but are not limited to obstructive ureterocele (area between the tube that carries urine from the kidneys to the bladder), urethral stricture (abnormal narrowing of the urethra) or agenesis (absence of), persistent cloaca (a defect in which the rectum, vagina, and urinary tract are fused together into a single common channel), and megalourethra (congenital dilation of the urethra). The ultrasound findings of many of these conditions are similar, and it is often difficult to differentiate the cause of the urinary obstruction until after delivery.Because there are different causes of LUTO, the prognosis can be expected to be different depending on the individual diagnosis. However, a major component that dictates perinatal outcome is the secondary complications of the obstruction (renal dysplasia and pulmonary hypoplasia). To prevent these complications, several methods have been developed to bypass the blockage of urine while the baby is still in the womb, with the hope that the backpressure on the kidneys can be averted and the amniotic fluid volume may replenish to allow for more normal lung development.FrequencySignificant lower urinary tract obstruction can be found in 1 in 500 pregnancies.

What is PUV?

What are posterior urethral valves?

Posterior urethral valves(PUV), a congential condition that occurs only in boys, are excess flaps of tissue in the urethra, which is the tube that drains urine from the bladder to the outside of the body for elimination. See Urinary Tract Anatomy. This excess tissue can block or reverse the flow of urine and can affect all of the urinary tract organs including the urethra, bladder, ureters, and kidneys. The organs of the urinary tract become engorged with urine and swell, causing tissue and cell damage. The degree of urinary outflow obstruction will determine the severity of the urinary tract problems.

What causes PUV?

PUV are the most common cause of severe types of urinary tract obstruction in boys. It is thought to develop in the early stages of fetal development. The abnormality affects only male infants and occurs in about one in 8,000 births. Sometimes however, if it isn't severe, it is not detected during infancy. This disorder is usually sporadic (occurs by chance). However, some cases have been seen in twins and siblings, suggesting a possible genetic component.

What are the symptoms of PUV?

The syndrome may occur in varying degrees from mild to severe. The following are the most common symptoms of posterior urethral valves. However, each child may experience symptoms differently. Symptoms may include:

an enlarged bladder that may be detectable through the abdomen as a large mass
urinary tract infection, or UTI (usually uncommon in children younger than 5 years and unlikely in boys at any age, unless an obstruction is present)
painful urination
weak urine stream
urinary frequency
bedwetting or wetting pants after the child has been toilet-trained
poor weight gain
difficulty with urination
The symptoms of PUV may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

How is PUV diagnosed?

The severity of the condition usually dictates when it is identified. In more severe cases, where blockage of urine is complete or almost complete, posterior urethral valves can be identified prenatally in the male fetus. Here, ultrasound findings include bladder distention, bilateral kidney and ureteral dilation, and sometimes, decreased amniotic fluid level (oligohydramnios). It can also be diagnosed in the newborn boy with a distended bladder, and urinary dribbling or urinary retention [Respiratory distress (breathing difficulties) may be present in those with severe obstruction.].
If the blockage was mild at birth, posterior urethral valves can have a gradual effect on the bladder and therefore go undetected for years until your older child has a urinary tract infection or has problems urinating. These problems include the symptoms noted above.
If your child has these symptoms, he should be referred to a pediatric urologic physician immediately for an ultrasound of the urinary tract. The diagnosis is made based on the characteristic appearance of the posterior urethra on an x-ray called a voiding cystourethrogram(VCUG) or by direct endoscopic visualization. A VCUG is a specific x-ray that examines the urinary tract. For this test, a catheter (hollow tube) is placed in the urethra (tube that drains urine from the bladder to the outside of the body) and the bladder is filled with a liquid dye. X-ray images will be taken as the bladder fills and empties. The images will show if there is any reverse flow of urine into the ureters and kidneys. Direct endoscopic visualization is a procedure whereby a miniature telescope is passed within the urethra during general anesthesia. VCUG may also show vesicoureteral reflux (backward flow of urine from the bladder to the ureter and/or kidney), which is present in approximately 50% of patients with posterior urethral valves at the time of diagnosis. Reflux often resolves spontaneously after correction of the obstruction (i.e. treatment of PUV)
Further evaluation is necessary to complete the work up of the patient with posterior urethral valves. Your child will likely undergo laboratory (blood and urine) testing, especially a baseline serum creatinine level, which provides a gross estimation of kidney function. This is essential for the initial evaluation and follow up care of boys with posterior urethral valves. Additional studies you and your child may encounter include; the intravenous pyelogram (IVP) which allows doctors to visualize and assess the kidney collecting system and ureteral (drainage system) anatomy. This test involves injection of a contrast agent that fills the urinary tract tract and helps the doctor to see the organs on an x-ray. A renal (kidney) scan(s) which provide very sensitive quantitative information regarding kidney function and drainage characteristics, may also be used.
Specific evaluation of bladder function (urodynamics) is also an important adjunct to the care of boys with posterior urethral valves. During urodynamic evaluation, the bladder storage and emptying functions are characterized. This allows for appropriate and optimal medical and, at times, surgical management of problems that can be associated with posterial urethral valves. These include: small bladder capacity, hyperactivity of the bladder muscle, stiffness (loss of compliance) of the bladder wall, and/or an inability of the bladder to contract or empty completely (atonic bladder).

How is PUV Treated?

How the doctor manages your child's posterior urethral valves depends on the severity and character of presenting symptoms. In severe cases, for instance, symptoms such as respiratory distress, sepsis and/or fluid and electrolyte abnormalities are treated emergently. A urethral catheter is placed for relief of urinary obstruction, most likely prior to definitive diagnosis in the severely ill newborn, or following a diagnostic VCUG in the patient with less severe symptoms.
After appropriate stabilization of the patient, the posterior urethral valves are either cut or resected during a minimally invasive procedure known as valve ablation. While the child is under general anesthesia, doctors use a small caliber endoscope, a tiny telescope about the size of a pen-filler, to look through the urethra and remove the valves. No incision is necessary. Rarely, a boy with severe manifestations of posterior urethral valves may require initial proximal urinary diversion (urinary drainage before the urine reaches the urethra) at the level of either the bladder, ureter(s) or kidney(s).

What is the long-term outlook for a child with posterior urethral valves?

Postoperative and long-term evaluation of patients with posterior urethral valves is mandatory. After stabilization of the patient in the immediate postoperative period, the doctor must consider and manage any long-term problems that posterior urethral valves may have caused or impacted before their removal. These problems potentially include vesicoureteral reflux, bladder dysfunction and/or renal function impairment.
Baseline and periodic (as needed) urodynamic study in all patients with posterior urethral valves is prudent. Appropriate therapy such as anticholinergic medication (to decrease bladder hyperactivity), clean intermittent catheterization (to empty an atonic bladder) and/or bladder augmentation (to increase bladder capacity) may be helpful for management of specific bladder dysfunction.
Manifestations and consequences of posterior urethral valves may persist after removal of the valves. At one end of the spectrum are boys who continue to experience mild symptoms of urinary incontinence, frequency, urgency, but a normal upper urinary tract (kidney and ureter). Simple valve ablation as an outpatient can often cure these symptoms. In severely affected urinary tracts with a dilated kidney(s) and/or ureter(s) which do not improve after valve ablation, extensive reconstructive surgery may be helpful in preventing renal deterioration. Unfortunately, in some cases where the impact on renal function was greatly compromised by the obstruction, chronic renal insufficiency or renal failure occurs despite early relief of the obstruction. Follow-up care is therefore of the utmost importance.
Comprehensive initial and prospective evaluation, coupled with appropriate, directed management and aggressive follow up of boys with posterior urethral valves is critically important for optimal outcome. The goal would be to identify initially, treat proactively, and evaluate systematically the response of specific upper and/or lower urinary tract abnormality(ies) due to posterior urethral valves. This approach potentially limits the harmful effects on bladder and renal function. This goal will best be accomplished by collaboration with specialists in nephrology and radiology.


Research is being conducted at Children's Hospital Boston to determine the effects of prophylactic medication for these bladders to reduce or prevent their stiffness. Other drug therapies are being investigated that alter the potential changes at the cellular molecular level that may occur in boys with posterior urethral valves.
Researchers are also looking into ways to apply tissue engineering techniques to treat children with posterior urethral valves, who may require reconstructive surgery of the urinary tract. Tissue engineering allows doctors to use the patient's own cells to grow new replacement tissue used to augment various parts of the urinary tract. For more information, link to Children's Hospital's Center for Genitourinary Tissue Engineering.

What's going on??

So I know on Tuesday I told everyone I was going to find out the gender of the baby and then I disappeared for the rest of the week. Well the baby is a boy and he has some complications. Very simply the baby has received a fatal, terminal, not compatible with life diagnosis. Instead of explaining every fine detail to each person who asks I am posting it here and will refer people here for more information. My son, Kamil Sefraoui, has been diagnosed with a Lower Urinary Tract Obstruction or LUTO caused by a Posterior Urethral Valve or PUV. This is a rare condition affecting 1:10000 boys. This diagnosis by itself is not fatal however as you may read more about each diagnosis you will learn the blockage of urine also blocks the fluid from returning to the babies lungs and results in hypoplastic lungs. This means the babies lungs don't get to practice breathing in the womb during critical lung development.

So Kamil was found on Tuesday with no amniotic fluid around him, kidney damage in both kidneys due to the back up of urine, a grossly enlarged bladder, and thickness at the back of the neck. He was seen by Neonatologist Dr. Stanley the same day. The Dr. performed an amniocentesis test and bladder tap to 1. drain the excess fluid from the Kamil's bladder and 2. to take some liquid to test for birth defects or genetic problems. On Thursday I learned there were no birth defects such as down syndrome or chromes 13/18 or something like that. We did a second bladder tap and drained almost as much fluid as we did on Tuesday. This is a small positive sign that one of the kidneys is working. The negative test and working kidney are important because....

There is a fetal surgery the Dr. can perform to place a shunt in Kamil's bladder so he will have an outlet to release the fluid so it will stop building up in the bladder. There are certain parameters the baby has to meet to be eligible for the procedure. One the amniocentesis has to be negative for genetic defects and it was. Two one of the kidneys has to be functioning at a level that can maintain after birth. So I will find out on Monday if Kamil is a candidate for this procedure. Dr. Stanley and myself are both VERY aware that this will most likely not be the case. Even if he did hve the procedure it's extremely risky, the babies move so much that they either can't get the shunt in place or the baby kicks it out. The shunt does not resolve the hypoplastic lung or low amniotic fluid problem. So on the one hand his kidneys are failing and damaged and on the other hand his lungs are not getting to develop.

What this means.... I am preganant with a boy. My due date is May 22, 2010. I am going to have this baby even though I know he will die. I have the option to terminate/abort/kill my baby and I will not do it. The Dr.'s tell me there is not the slighest chance he will live but that's not up to me. After Kamil is born we will be provided comfort care in the hospital. He will not be put on life support or any machines. There will be no medication or drugs. After the birth it is gods will what will happen. So I will keep the updates on this blog for family, friends, and anyone else experiencing something similar.

As some of you may know this is not the first baby I will lose. This is my fourth pregnancy. My first pregnacy was fine I had a baby boy Ali in 2005. Two years later, 2007, I had to induce labor for my 20 week old son, Yahya Sefraoui, who died in utero and my body did not miscarry. I had a 12 hour labor with him and he is buried in Mercy Cemetery in Oklahoma City, OK. In June 2009 I became prganat again and lost that baby at 8 weeks. I became pregnant with Kamil in August 2009 and received his terminal diagnosis in January 2010. This may seem like a lot of loss to some but to me I see the blessings. I have a strong faith and my religion, Islam, gives me explanations for these losses and that is what I take comfort in. I also see the previous two losses have better prepared me for what is to come with Kamil's delivery. Please don't feel sorry or give me sympathy. I am happy, content, and strong. I do need support, friends, understanding, and an occasional shoulder to cry on. Keep in touch and check back to keep updated. With much love.