https://chronicillnessrecovery.org/index.php?option=com_content&view=article&id=192

Mexican Quinoa Slowcooker

I've been trying to incorporate sneaky ways to put Quinoa into our diet, its more healthy has lots of fiber and can be filling. Although its more expensive than rice the benefits outweigh those of rice as well. 

• 1 pound ground beef, ground turkey, or ground chicken

• 1 and 1/2 cups uncooked Organic Quinoa (Rinse well strain with paper towel)

• 1 can (15 ounces) black beans

• 1 cup frozen corn or canned corn

• 1 can (10 ounces) diced tomatoes  

• 1/2 cup salsa

• 1 teaspoon minced garlic

• 1/2 cup onion

• 1/2 cup sweet bell peppers 

• 1 cup water

• 1 enchilada sauce (I use Ortega 16oz) 

• 2 cups cheddar or Mexican cheese

• 1/3 cup fresh cilantro, chopped

• Dallops of sour cream on top before serving

• Additional Options: 2 tablespoons fresh lime juice, green onions, 1 small jalapeno

This a great meal for days when you want something easy, different and want it to be ready around a certain time frame. This takes about 3hrs on high or 5-5.5 on low. 

Cook meat first, drain if needed and place in crockpot or slow cooker.

Rinse the quinoa very well to deter the bitterness.

Add all addition ingredients except for cheese and cilantro in the pot, mix together, and set to desired time frame:) 

When its done add in cheese, scoop out into servings and add sour cream on top 

Even my girls loved this dish! 

September was Interstial Cystitis month- The journey to diagnosing Interstitial Cystitis

Ive had people ask me questions over the years about why I have to go to the bathroom so much. This will explain one aspect of this which I hope may help some other people as well. To understand the full person, you must understand where they have come from.

When I was a teen I constantly had bladder issues, which the doctors didn't really understand. I always felt pain and even though I drank tons of water and ran cross country this pain was always there. When I moved down to VA at  the ripe age of 18 the pain was getting so bad I went to the ER several times. It was beyond the ER  doctors comprehension. I kept having blood in my urine and so they would prescribe me antibiotics thinking I had bladder infection/ kidney infection. As the months passed frequent trips to ER, I finally found a new gyn to listen to me. The other ones told me to "go home and take Tylenol". Thanks doc.

I knew there was something wrong, no one else I knew had the pain, frequency constantly, if I had a drink I was peeing knives, and had to go to the bathroom sometimes 5 minutes after just going because urine in my bladder hurt so bad. At the same time I had severe pelvic pain which was thought to be related. I knew that my issues were far from normal. The normal woman didn't have the debilitating pain, severe bleeding, etc that I had. It was getting worse. I was constantly embarrassed, working was hard waiting tables when you need to go to the bathroom so often. School during my teen years and then college was hard because teachers don't want to let you out of class when you just were out of class. I knew something had to give because I needed a reason for why and I'm a "how do I fix this" person so I was on a mission to fix this and get over it.

 I found a new gyn who listened to me and said he knew what I had. I was not convinced but I was so ready to find out that I would do just about anything. One test which is very rarely used now was the potassium test. He would catheterize me, fill my bladder with saline first then empty it then fill it with potassium. As the potassium started going in I screamed at the top of my lungs and cried. It was one of the most painful things I had ever experienced. He stopped and let me pee, it was straight blood. He said you have interstitial cystitis. I was in horror crying my eyes out. There is no cure for IC just painful bladder treatments, medications, surgeries etc. The only way to test and see if you have this for certain is to do a cystoscopy and biopsy and since I was scheduled for my first of many surgeries because of the endometriosis I also had this on top of other tests. I had no one to take me to surgery when it was scheduled. My fiance and I had broken up and so one of my friends I worked with ended up taking me. He even called my doctor and go me more medications when the meds weren't working. He got me food and helped me when I couldn't walk. He was a good friend. I was in school and a waitress at the time so I was very low on money. The bladder medication cost was outrageous and I also had to start weekly bladder treatments at the age of 18 this was not very fun, in fact they are painful especially when you have bladder ulcers getting anything injected into my bladder was like lemon juice getting poured onto an open wound but I went for months and had it done. I wanted nothing more than to feel better. I was never one to take pain pills so I needed to get myself back I wanted to run again which had become so painful. What I didn't realize was that IC is a condition you have for the rest of your life.

 I'm 30 now and have been on this journey for so long I dont remember ever having days without pain. I've had many many surgeries, some to check for bladder cancer which can develop from the constant inflammation and ulcers, and also very invasive surgeries to clean out the endometriosis wrapped around my bowels, ovaries, tubes, peritoneum, adhesions etc, and finally had to have a hysterectomy. Some people notice a temporary improvement in symptoms after undergoing cystoscopy with bladder distention. Bladder distention is the stretching of the bladder with water or gas. The procedure may be repeated as a treatment if the response is long lasting, but in my experience its very short lived, painful, and after surgery I end up with catheters for days in hospital and IV antibiotics because of infections. Other surgical options include:

• Fulguration. This  invasive method involves insertion of instruments through the urethra to burn off ulcers that may be present with interstitial cystitis.

• Resection. This is  invasive method that involves insertion of instruments through the urethra to cut around any ulcers.

• Bladder augmentation. In this procedure, surgeons remove the damaged portion of the bladder and replace it with a piece of the colon, but the pain still remains and some people need to empty their bladders with a catheter many times a day.

I was told I wouldn't be able to have kids because I had such bad endometriosis stage 4 at the age of 18 it was everywhere all over my bladder etc as I mentioned the worst the dr had seen at my age. I had been also told that earlier on in my life as well when a Pediatric dr had seen me at Childrens hospital in Philly because at 14 I was diagnosed with several things, and Raynauds and unspecified arthritis, but I brushed it aside because essentially raising my siblings, neighbors kids, some cousins... made me want to concentrate on school and my nursing degree, kids were not on my mind, God has a funny sense of humor... This is a short condensed version of my journey to my interstitial cystitis diagnosis.

Since 2004 I have been on Elmiron except when I was pregnant (the journey of my pregnancies very complicated will do later). Its now deemed safe during pregnancy but during the times I was pregnant no Dr would give it to me and I suffered in intense pain on top of life threatening conditions. Sometimes people go into remission during pregnancy with autoimmune conditions, I wasn't that lucky. Through the years I've battled many things and this is still one of them. Getting up every half hour at night sometimes more and not sleeping. When going out or on car rides I have to know where there are bathrooms and when most can sit through a movie I have to get up 2+ times at least to go to the bathroom. I'm not as embarrassed as I was when I was first diagnosed, but this condition has still proven to be a difficult journey. This alone is a very hard condition to have and the people I know who have this fight daily hard but then I got diagnosed with life threatening  battles on top of everything else I have,but this was the start of the list....the autoimmune damage would add on as the years have passed. Currently, Im still on Elmiron and have had to re start twice a week catheter treatments for my bladder which is very painful, on top of IV treatments I get for other battles Im facing. Ive also been battling ongoing kidney infections on top of the IC which aggravates the IC worse as you can imagine. The inflammatory response kicks up my other autoimmune conditions and complications along with the genectic immune defiency that has made me septic several times.

If you have or know someone who suffers with this help them figure out good treatment, without elmiron I would be in a lot more pain and have a lot more ulcers. Following the IC diet is also key for low inflammatory foods. Until your bladder starts to heal especially stay away from juice, soda, tea, etc. Find a uro/gyn that is knowledgeable about this condition. IC can also be coupled  with some other conditions which are not fun that made my list as well. To find good treatment make sure you research. Some people take prelief on top of the Elmiron. One of the side effects of Elmiron is hair loss but God knows I can deal with that if I'm in less pain. Also a side note when I got diagnosed with Celiac in 2011 (after suffering years on end= for another time) going gluten free decreased my pain and for a period of time my IC was somewhat in remission. It was short lived but during that time I was very thankful to have days of less pain. Make sure to do food journals and drink journals to help you find out what your triggers are and don't stop till you find a Dr who will listen to you.

http://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/basics/definition/con-20022439

Sometimes overwhelmed with labs, tests, surgeries, treatments etc I forget to focus on spending quality time with my little bits. I need to spend time with myself, still working on that. One of my pastors had challenged me this year to really focus on me and forget about pleasing and doing for everyone else. At first  I thought how selfish this sounded. However, as the months went on God spoke to my spirit about what it really meant. It meant to find value in ME. If I don't, then how can anyone else? If I see myself as broken then how can I help others? If I'm trying to please everyone else but I'm falling apart how is that healthy? I began the long slow journey of trying to find me....the new me...yes I have limitations and challenges and the whole nine. Yes my life revolves around yearning to be in church, but treatments and drs visits etc, have overwhelmed my life but WHO AM I? I am not the conditions that attack my body. My soul is so much more than that. My soul and strength come from the one who created me to be me, so how can I look at myself as a broken body when God made me in HIS image and HE is not broken? When you really get into depth of what God says we are, WHO he says we are we can get a sense of longing and desire to be who he says we are even when we don't FEEL it. Sometimes, I really despise feelings. The thoughts of feelings can drift us off course of where we are meant to go and make us question every dream, every goal, and every move we ever make. I wonder about what people think way too much and God stops me in my tracks and says, "I know your heart". At the end of the day THAT is what I must focus on if no one else is in my car with me, God is and HE is in the driver seat. Giving God the keys to our car is not easy and sometimes we wrestle for the keys. I have to pull over because the speed at which we are going I feel I cant handle, like the task in front of me. I see the mountain thats in front of us and think, "HOW can this little car make it up that steep mountain?" Then I hear a whisper of hope, "I will never leave you nor forsake you". Sometimes those whispers of hope are the only thing that keeps me going from hour to hour. Some days its a random text from someone who I haven't gotten to see or talk to in forever. Lately though its been the positive voices of people that are making themselves in my life to push me farther knowing that even though I may not see it right now God has such a purpose to ignite a fire that only HE can.
Last weekend I had a little push from God, the kids had to be at service early and I felt moved to volunteer on decision team. I'm introverted by nature, to even engage in conversation with people I have to swallow the lump in my throat, put my big girl panties on, and say OK I can do this, over and over. Sometimes the fear is paralyzing, I feel like I don't fit in, I want people to like me, did I say the right things? This past Sunday I felt that in the meetings, but as I was drawn to this one woman I felt a sense of urgency and strength that I hadn't felt in a long time. I've had several times over the years where people poured their hearts to me about very hurtful past events that shaped who they were. Having gone through a lot myself I can relate to many damaging events that people have to heal from. They ask why God allowed such things to happen, and I answer that the people that hurt them did that on their free will but God is there with open arms wanting to hold you and tell you its going to be OK. He will use the bad circumstances that happen in life for good when we allow Him to use us to help others in their time of pain. Not everything that happens in life is good, but there is something good in every day, some days its just harder to see it. Focus in on who God says you are, ask Him to reveal it to you. He will in time, one day at a time reveal the next focus for you...until then love where you are, theres a reason why you are there. 

Annies Gluten Free Classic Alfredo Review

I purchased this on amazon and long story short its very good, its just not a lot of noodles for my hungry girls! So its much more practical to make it from scratch if you have the time and energy. For us it was good as Im still recovering from sickness and fighting these autoimmune complications. Thankful for the days when I need quick and easy gf help!

 http://www.annies.com/products/special-diets?q=66

We had a great day yesterday as a family, which is rare occasion. We loved hanging with old friends, laughing, and watching in amazement as the kids have all grown so big so fast! We went to our friends two girls birthday parties. When I was working, she was one of my best friends, we've known each other for 9 years! I couldn't believe her beautiful girls had grown up so fast and one blossoming into a woman, the other turning 1 and learning how sand tastes. :) 

They had a pool and the girls, laughed, splashed and had a lot of fun also! I am worn out beyond words but I am so thankful to have caught up with some friends and enjoyed being out of the house even for the day! 

Of course we brought gluten free pizza to the birthday party and left over GF cupcakes. I have found that its helpful to freeze some extras when I make them that way they come in handy for get togethers and bday parties where they just need 2 GF cupcakes 

Then we went to another friends house that we have known for 12 years and ate some Gluten Free pasta and broiled shrimp. I made GF pasta salad using Barilla, Hellmans mayo, celery and a few secrets that make it extra delicious! 

The broiled shrimp were fresh caught, with lemon and garlic salt. That was my friend's recipe and they were delicious! 

Fun yummy pasta salad and shrimp

Our journey of Immune defiencies

A long story short two years ago after a whole lifetime of problems and 15 years of specialiasts a Dr finally figured out I had a primary immune defiency, one very severe one. There is no cure for this as well, very few treatments, and the delayed diagnosis increased my risks of having all the autoimmune diseases and complications  I currently fight daily....and my girls are fighting on a lesser scale. This is one of the websites that explains some of the  treatments I fight through:



http://primaryimmune.org/treatment-information/stem-cell-and-gene-therapy/

Stem Cell and Gene Therapy

Hematopoietic stem cell transplantation (HSCT) represents the mainstay of treatment for several severe forms of primary immunodeficiency diseases. Progress in cell manipulation, donor selection, the use of chemotherapeutic agents, and prevention and management of transplant-related complications has resulted in significant improvement in survival and quality of life after HSCT. In some forms of severe primary immunodeficiency diseases, gene therapy may represent a valid alternative for patients who lack acceptable stem cell donors.

Hematopoietic Stem Cell Transplantation

A “stem cell” is a type of cell that can divide over and over and produce more stem cells as well as descendant cells that turn into different types of cells. Embryonic stem cells, for instance, can make descendants that turn into any tissue in the body, like skin cells, brain cells, heart cells etc. For each organ in the mature body, there are specific stem cells that can make all the different kinds of cells in that organ. For example, in the blood system, hematopoietic (“blood-forming”) stem cells (HSC) give rise to each of the different types of blood cells such as red blood cells (RBC), white blood cells (WBC) and platelets.

Traditionally, HSCs were obtained from the bone marrow. This process was called “bone marrow transplantation.” However, new methods now obtain HSC from peripheral blood, or blood taken from the placenta at birth (“cord blood”). Cord blood, in particular, provides an excellent alternative source of HSC for the immune and blood systems. The process of taking HSCs from one person and transfusing them into another is called hematopoietic stem cell transplantation, or HSCT. Unlike transplantation of a solid organ (such as a kidney or liver), HSCT does not involve surgery. It is more similar to a blood transfusion. But instead of just blood, the fluid transfused contains HSCs.

The primary immunodeficiency diseases for which HSCT is most commonly performed include Severe Combined Immune Deficiency (SCID), Wiskott-Aldrich Syndrome (WAS), IPEX Syndrome, Hemophagocytic Lymphohistiocytosis (HLH) and X-linked Lymphoproliferative Disease (XLP). It can also be used in the treatment of Chronic Granulomatous Disease (CGD) and many other severe primary immunodeficiency diseases. The transplantation of HSCs from a “normal” individual to an individual with a primary immunodeficiency disease has the potential to replace the deficient immune system of the patient with a normal immune system and, thereby, affect a cure.

There are two potential obstacles that must be overcome for HSCT to be successful. The first obstacle is that the patient (known as the recipient or host) may have enough immune function remaining after the transplant to recognize the transplanted stem cells as something foreign. The immune system is programmed to react against things perceived as foreign and tries to reject them. This is called graft rejection. In order to prevent rejection, most patients require chemotherapy and/or radiation therapy to weaken their own residual immune system enough to prevent it from rejecting the transplanted HSCs. This is called “conditioning” before transplantation. Many patients with SCID have so little immune function that they are incapable of rejecting a graft and do not require conditioning before HSCT.

A similar situation occurs when the recipient’s bone marrow is full of its own, defective stem cells and the HSC cannot find anyplace to establish themselves. This is called “failure of engraftment.” To prevent this, chemotherapy may be given to reduce the number of defective HSC in the recipient’s bone marrow in order to “make room” for the new HSC to engraft.

Although the chemotherapy treatment prevents the host from rejecting the transplanted HSCs, it may cause serious side effects. These include transient loss of all of the cells of the bone marrow so the patient is very susceptible infections, anemia (low RBC) and bleeding problems due to low platelets. Chemotherapy also may cause severe blistering of the mouth or other mucous membranes that makes getting adequate hydration and nutrition very difficult. It is because of these serious complications that HSCT is reserved for those patients with the most severe immune defects.

The second obstacle that must be overcome for the transplant to be successful is Graft versus Host Disease (GVHD). This occurs when the mature T-cells from the donor or which develop after the transplant, perceive the host’s tissues as foreign and attack these tissues. To prevent GVHD, medications to suppress inflammation and T-cell activation are used. These medications may include steroids, cyclosporine and other drugs.

In order to prevent some of these potential obstacles, it is important to try to identify a “matched” donor. A matched donor is one whose Human Leukocyte Antigens (HLA) are the same as those of the recipient.

Selecting a Donor

HLA are tissue types. Each of us has our own collection of HLA antigens on our cells including the cells of our immune system and bone marrow, as well as on cells in most other tissues and organs. The exact structure of these HLA antigens is determined by a series of genes clustered on the sixth (6th) human chromosome. Compatibility of HLA is very important to determine the chance of successful engraftment while keeping the risk of GVHD low.

There are many different variants for each of these HLA genes in humans. The combination of HLA alleles of each individual is relatively unique. However, since the HLA genes are closely clustered on chromosome 6, they are usually inherited as a single unit. Therefore, the chance that an individual’s brother or sister shares the same HLA alleles is relatively high.

There is a 1 in 4 chance that any sibling could be a perfect match for the patient. Unfortunately, due to the laws of probability and the fact that most families have a limited number of children, fewer than 25% of patients have a sibling who is a “match.” Therefore, there has been a major effort to develop alternative methods to offer the possibility of a transplant to patients who do not have a matched donor in their own family.

One alternative is to try to find a suitable matched donor through one of the worldwide computer-based registries of individuals who have volunteered to serve as bone marrow donors. The National Marrow Donor Program in the U.S. has listings of hundreds of thousands of individuals who have provided a blood sample to have their HLA type measured. Similar registries are present in many countries around the world.

Information on the combination of HLA alleles of more than 19 million volunteer donors is collected in Bone Marrow Donors Worldwide (BMDW). This database can be easily accessed by authorized healthcare professionals to explore the possibility that there is a matched unrelated donor (MUD) available for a patient who needs HSCT and does not have an HLA-matched donor in the family.

Successful transplants for patients with a primary immunodeficiency disease using donors found through this worldwide registry have saved the lives of many patients over the past 20 years. Results of transplantation using fully matched unrelated donors for some diseases now approaches the success rate for transplants using sibling matches.

Another source of HSC used for transplantation in patients with primary immunodeficiency diseases is umbilical cord blood. In the growing fetus, HSC frequently leave the marrow and are found circulating in high numbers in the blood. At the time of birth, the placenta can be recovered, the blood that is remaining removed and the HSC isolated and banked. These cord blood HSC may then be HLA typed and used for transplantation. Since cord blood contains fewer mature T-lymphocytes than the marrow or blood of adult donors, sometimes cord blood transplants have been successful even though the degree of match between donor and patient was not very good. One limitation of cord blood HSC transplantation is that because of the limited volume of umbilical cord blood, there may not be a sufficient numbers of HSC to treat a larger child or adult.

If a perfect match cannot be identified, it is sometimes possible to use one of the parents as a donor. Either parent has half of the same alleles as the patient; the parent is said to be “haploidentical” to the patient. There are some problems that can occur with this type of transplant. The mature T-lymphocytes contained in the bone marrow of the haploidentical parent would be able to recognize the HLA alleles that are unique to the patient, and would thus cause GVHD.

In order to prevent this complication, it is essential to remove the mature T-lymphocytes (called T-cell depletion) from the bone marrow before infusing the stem cells into the patient. This is done with a preparative regimen before the transplant. After the mature T-cells are removed from the HSC, the risk of GVHD is markedly reduced.

T-lymphocytes of donor origin that develop from the transplanted HSC and reconstitute the patient’s T-lymphocyte immunity will remain haploidentical to the rest of the cells of the patient. However, the risk of GVHD from these T-lymphocytes is low because these cells develop inside the new host from immature precursor cells in the grafted marrow. Like a person’s own T-cells, they are “educated” during their maturation to ignore or “tolerate” the cells and tissues of the host.

It may take as long as six to eight months for the stem cells to reconstitute T-lymphocytes and for these newly generated T-cells to mature and learn to work with other cells in the host. Therefore, restoration of immune function after T-cell depleted HSCT takes longer than after fully matched HSCT (where mature T-lymphocytes contained in the graft may immediately provide some immune function).

Sometimes, complete immunologic reconstitution may not occur after HSCT. In some cases after haploidentical T-cell depleted HSCT, more than one transplant has to be performed to achieve T-cell reconstitution. Full immune reconstitution (including antibody production) is achieved less often than after fully matched transplantation.

Some centers use T-cell depleted HSCT for treatment of babies with SCID who do not have a matched family donor, while other centers believe that the search for a matched unrelated donor is the best first choice option. The best choice depends on many factors including:

• The type of SCID or primary immunodeficiency disease
• How much immune function remains
• The degree of matching of potential donors
• The types of HSCT available (cord blood vs. bone marrow)
• The age of the patient
• How sick they are and what types of complications they have had

Procedures

HSC are “harvested” from the donor by removing bone marrow from the pelvic bones. Bone marrow is removed by drawing the marrow up through a needle that is about 1/8 of an inch in diameter. Only two teaspoons are taken from each puncture site because, if more is taken, the sample is diluted with the blood that flows through the bone marrow space. Bringing blood with the bone marrow increases the risk of the sample carrying the mature T-cells that have the potential to cause GVHD.

Usually, two teaspoons are taken for each two pounds of the recipient’s body weight. The average donor might have only a few punctures performed to get enough stem cells for a baby, but more than 100 punctures may be required to get enough stem cells for a teen or full sized adult. The procedure may be performed under general anesthesia or under spinal anesthesia. The discomfort after the procedure varies from donor to donor.

Almost all donors will require some type of pain control medication for two to three days after the procedure, but most donors are not required to stay in the hospital overnight and are able to return to full activity shortly afterwards. The donor’s immune system is not compromised because HSC and marrow quickly regenerate.

Once it has been harvested, the bone marrow is passed through a fine sieve to remove any small particles of bone and processed further, if necessary, to remove incompatible red blood cells, or to remove T-cells. It is then placed into a sterile plastic bag and infused into the host intravenously just like a blood transfusion.

As an alternative to bone marrow harvesting, HSC can be obtained from peripheral blood and then purified via a process known as apheresis. The donor’s blood is collected from an arm vein, using a needle that is connected with a machine that removes the white blood cells. After white blood cells are removed from the blood, the remaining red blood cells are then returned to the donor via a vein in the opposite arm. The HSC are then purified from the other white blood cells. Typically, in order to enrich the amount of HSC in peripheral blood, the donor receives subcutaneous injections of granulocyte-colony stimulating factor (G-CSF) or of plerixafor in the days that precede the blood collection. Both G-CSF and plerixafor mobilize the HSC from the bone marrow, transferring them into peripheral blood, so that a large number of HSC are present in the peripheral blood before the apheresis procedure.

Results of HSCT

HSCT between HLA matched siblings has been successfully employed in the treatment of primary immunodeficiency diseases since 1968. The first child to receive a transplant (a patient with X-SCID) is still alive, healthy and has a family of his own. This case suggests that, as best as can be determined, the graft is very long lasting and appears to be permanent.

In the case of infants with SCID, HSCT involving a matched marrow has minimal graft versus host disease risk and is associated with an overall success rate of as high as 90%. Results of HSCT from unrelated donors from a haploidentical parent are not as good, yet approximately 60-80% of the infants survive and demonstrate robust T-cell reconstitution.

The chance of survival depends on the health of the patient at the time of the transplant. If the patient is in relatively good health, free from infection at the time of the transplantation and does not have lung damage from previous infections, the outlook is very good. Because of this, survival is very good (>90%) in infants with SCID who receive HSCT within 3-4 months of age, even when the donor is not a family match. This emphasizes the importance of early recognition of SCID, and the benefit of newborn screening for this disease, that is BEFORE the patient has a serious infection.

While reconstitution of the number and function of T-lymphocytes is the rule after HSCT for SCID, normalization of antibody production occurs in some, but not all, patients. Reconstitution of antibody production after HSCT for SCID depends on the specific form of SCID, on the type of donor (matched vs. haploidentical) and on the use of chemotherapy as part of the preparative regimen before the HSCT. If antibody production is not reconstituted after HSCT, patients will require Ig replacement therapy indefinitely to help protect them from infection. Even if replacement therapy is required, these patients usually enjoy a good quality of life after transplant.

HSCT is also an effective form of treatment for other forms of primary immunodeficiency diseases, including WAS, IPEX, HLH), XLP, X-linked hyper-IgM (also known as CD40 ligand deficiency), CGD and other primary immunodeficiency diseases.

In most of these conditions, conditioning with chemotherapy is required before the transplant to allow engraftment of donor-derived stem cells, even when the donor is a matched sibling. The success rate after HSCT from an unrelated donor in these cases is nearly as good (70-80% survival) as using a matched sibling for the donor. Here again, the initial health of the patient is extremely important and the best survival rates are in children who are transplanted under the age of 5, who are relatively free of infections and who do not have pre-existing lung or liver damage.

Mixed chimerism (that is persistence of the patient’s immune cells along with donor-derived white blood cells) after HSCT is sufficient to cure the disease in many of these disorders (IPEX, HLH, XLP, X-linked hyper-IgM, CGD), and this may allow doctors to use less intense chemotherapy, thus also reducing the risk of related toxicity. In boys with WAS, mixed chimerism is associated with a higher risk of complications (autoimmunity, persistence of low platelets) and more intense chemotherapy regimens are typically used for this disease.

HSCT is not always indicated in patients with CD40 ligand deficiency and CGD, as many of these patients do well on medical management. The risks and benefits of the procedure must always be carefully weighed.

It must be noted that HSCT from a haploidentical parent is not as successful in primary immunodeficiency diseases other than SCID and is typically reserved to very severe cases that cannot be safely managed otherwise. Again the risks and benefits must be carefully addressed.

Gene Therapy

Most primary immunodeficiency diseases are caused by errors (mutations) in specific genes. It has long been the hope that one day it would be possible to cure these diseases by fixing the mutation that causes the disease and thus affect a cure. As a result of the human genome project and similar efforts to map all of the genes present in human beings, we now know the identities of the specific genes involved in many diseases, including the vast majority of primary immunodeficiency diseases. More genes are being identified nearly every week. We have finally reached the stage where that long held hope is becoming a reality.

Not every genetic disorder, including some primary immunodeficiency diseases, will eventually be correctable by gene therapy. However primary immunodeficiency diseases, as a general rule, may be better suited for this therapy than almost any other class of genetic disease. Transplantation of HSC taken from a normal donor has been successful in curing many of these disorders, so it should theoretically also be possible to take the patient’s own HSC and correct the genetic defect in those cells by adding a normal copy of the gene that is causing the disease.

To introduce the gene, we take advantage of the ability of some viruses (retroviruses) to penetrate into cells and to insert their genome into the patient’s own DNA. For the purpose of gene therapy, viruses have been modified so that their own genes have been largely removed and replaced with the normal copy of the defective human gene that is causing the primary immunodeficiency diseases.

To perform gene therapy, the patient’s HSCs are first isolated from the bone marrow or from peripheral blood, and they are then cultured in the laboratory with the virus containing the gene of interest. Various growth factors are added to the culture to make HSC proliferate and to facilitate infection with the virus. After two to four days, the cultured cells are washed to remove any free virus, and then they are transfused into the patient. The cells that have incorporated the gene of interest into their chromosomes will pass it to all cells that will be generated when these cells divide. Because the gene has been inserted into HSC, the normal copy of the gene will be passed to all blood cell types, but not to other cells of the body. Because primary immunodeficiency diseases are caused by gene defects that affect blood cells, this can be sufficient to cure the disease.

Gene therapy represents a life-saving alternative for those patients with severe forms of primary immunodeficiency diseases, who do not have a matched sibling donor. In these cases, performing an HSCT from a haploidentical parent or even from a MUD would carry some significant risks of GVHD. In contrast, GVHD is not a problem after gene therapy, because in this case the normal copy of the gene is inserted into the patient’s own HSC, negating the need for a HSC donor.

Until now, gene therapy has been used to treat patients with SCID secondary to adenosine deaminase (ADA) deficiency, X-linked SCID, CGD and WAS. The first clinical trial of gene therapy was at the National Institutes of Health in 1990 and treated a 4-year-old girl with ADA deficiency. The design of this first trial did not attempt to correct the defective HSC, only the T-cells. This girl is now clinically well and still has about 25% of her circulating T-cells carrying the corrected ADA gene more than 20 years after her treatment. After this initial clinical trial demonstrated that gene therapy could be carried out safely and that gene-corrected T-cells could survive for years and function normally, follow up trials were initiated attempting to cure children with ADA-SCID by targeting HSC for gene correction. The results have been spectacular with most of the more than two dozen ADA-SCID patients attaining a significant long lasting increase of the T- and B-lymphocyte count and a remarkable improvement of immune function. Importantly, no episodes of serious adverse reactions or cases of leukemia have occurred in the patients with ADA deficiency treated by gene therapy.

The next primary immunodeficiency disease to be treated by gene therapy was X-linked SCID. This trial also targeted the HSC using a retrovirus to deliver the gene. Beginning with a groundbreaking study in Paris followed by a similar experience in London, there have been 20 X-SCID babies around the world that have been treated with gene therapy. In these infants, gene therapy was performed without any need for chemotherapy prior to the transfusion of HSC that had been cultured with the virus. Eighteen of these patients are currently alive, and in 17 of these 18 children gene therapy alone was sufficient to restore development of T-lymphocytes and immune function and no other treatment was needed.

Unfortunately, while the SCID was cured, five of these patients developed leukemia. Four of the children’s leukemia was cured, but one child died.

Gene therapy trials are ongoing with patients with other primary immunodeficiency diseases. Overall, the experience with gene therapy in primary immunodeficiency diseases has demonstrated that it is possible to cure the disease by inserting a normal copy of the gene into the patient’s HSC. However, there are some risks that need to be overcome and safer vectors need to be developed. Various laboratories around the world are working at modifications of the viral vectors in order to improve their safety. Nevertheless, gene therapy must still be regarded as an experimental therapy. It is likely that the inherent problems will be worked out in the coming years and that a larger number of primary immunodeficiency diseases will be cured by gene therapy.

Excerpted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases FIFTH EDITION Copyright 2013 by Immune Deficiency Foundation, USA. This page contains general medical information which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical advice.

Zaycon Foods

We've been purchasing our ground beef and chicken from Zaycon foods since 2012, it has saved us significant amounts of money! The meat is extremely fresh, lean and taste way better than whats in the grocery store. Best part its the easiest "shopping" experience. You drive up and they stick the box in the back, drive home portion it out and then you are ready to label, place in bags for future yummy meals!
Here is my link:zayconfresh.com/refer/zf135941

Order now you wont be disappointed! I promise!! Below is the details. Also they travel all over the USA so you dont have to live in virginia. :) 


Old Fashioned Ham This ham was made from fresh outside muscles only, for excellent flavor and texture, slow-smoked with real apple wood to give the ham a unique true smoked flavor. With less than 10g of fat per 100g, the USDA has approved this ham as LEAN. With this special cure there is no MSG; this ham is completely bone-less, meaning higher yields and easily carved form end to end. The Ham is packaged by the case, this includes two 10 pound hams that are individually vacuum sealed and have guaranteed freshness up to 30 days. Ingredients Cured with water, dextrose, contains 2% or less of salt, Sodium phosphates, potassium acetate, potassium lactate, sodium diacetate, sodium erythorbate, sodium nitrite. •Gluten and MSG free

93/7 Lean Ground Beef Our ground beef is 100% USA grown. The beef cattle have a grass diet up to 700 pounds, which is later supplemented by a grain diet (mostly consisting of corn, soybean and minerals) up to 1,300 pounds. The ground beef is processed at a USDA inspected, state-of-theart plant employing strict protocols (including HACCP) and the highest in food-safety standards. Prior to processing, the USDA food and safety inspection service randomly samples cattle under a monitoring plan and performs testing for antibiotic residues. USDA nutrition labeling standards defines "extra lean" and “lean” ground beef based on the lean/fat ratio. While not part of these guidelines, the term “super lean” is often used in the grocery sector to describe ground beef at the upper end of the “lean” category (i.e. “Fresh 93/7 Super Lean Ground Beef”). This ground beef product is 93% lean and 7% fat. Our ground beef can be enjoyed through many cooking options including casseroles, hamburgers, and stuffed bell peppers...you name it, the list is limitless. •Comes fresh--never frozen! •Comes in a 40lb case with four 10lb chubs per case.

Fresh, Boneless, Skinless Chicken Breasts Our trademark event, our chicken is 100% natural; minimally processed with no additives or artificial ingredients. It comes directly from the processor and has never been frozen. •Sold by the case (40lbs) •Case dimensions: 18” x 12” x 7” Our chicken is delivered in its original wholesale packaging, a water resistant cardboard case containing three or four plastic bags of fresh chicken breasts. There will be small amounts of naturally occurring liquids (i.e. chicken juice) in each bag and case. Chicken breasts typically come in double-lobed pairs (”butterfly”) and will have small attached amounts of fat. Some trimming may be 

Gluten Free vanilla cupcakes with Vanilla
Buttercream icing









Gluten Free cupcakes chocolate with cream cheese icing!

I love to bake! I also love to eat! I'm not the biggest sweet eater but I love to see the art in baking and cooking. It is a huge passion for me, but it is very strenuous and most days my autoimmune conditions that have affected my muscles and nerves make it close to impossible to follow that dream.  I am still on my way to healing daily.

Gluten Free yumminess using a 2D coupler.

My icing recipes use Confectionery sugar, real butter (preferably organic), cream cheese,  and Organic pure vanilla, milk. Everyone loves my cupcakes :)

If you dont have enough butter you can substitute Crisco or shortening with butter and add butter extract flavoring but I love the natural taste of my icing!

For piping hard decorations you want to add Meringue powder to the icing as well.

Fresh Basil and spice and everything nice!

Our garden is flourishing and I found myself staring at amazement at how a simple seed can sprout given the right love, time, and nourishment. The last two seasons our garden didn't grow as many as I had hoped. This year I stared at Gods work proud and happy that simple things such as basil was flourishing so well. 

We learned how to prune off the flowers of the basil and cilantro and how to help it to stay healthy, We don't think about how we have to prune off parts of our self to grow healthier but we do to keep producing fruit or basil. :) 

In this recipe I suggest not modifying it, it turned out perfect and my picky kids loved it! There were no leftovers. 

Take the basil about half cup, 2-3 tsp. minced or pressed garlic, 1/4 tsp salt, 2-3 Tbl of olive oil, and 1/4 cup of lemon juice and mix it in the blender. 

Mix it well until its a good liquid consistency. My family is a family of 4 who probably eat like a family of 6 but in any case below is our chicken. 

Marinate that for 2-3 hours in the fridge and then grill. 

We had ours with mashed potatoes and broccoli and my girls ate every bite! They even asked for seconds of the meat which normally doesn't happen. It was a fresh lemon and basil flavor without being over powering. 

My next try I will make it in the crockpot and post my outcome! 

Yum yum yum! 

Zaycon Foods, best value and best meat

My referral link:  zayconfresh.com/refer/zf135941 

When I heard about the gross slime in our grocery store meat I searched high and low for an alternative. I want to be healthy and feed my family healthy nutritious food! I found Zaycon Foods! We have been ordering through them for years and it has been the easiest, most economical way to get fresh meat in bulk. They travel around the country. We buy in bulk separate how we want in freezer bags and don't have to worry about running out very often. Now they have  Wild-Caught Alaskan Sockeye Salmon at only $6.99/lb?! Click on my referral link above! You wont be disappointed! I promise! :) 

My fav brands from Amazon

With Amazon you get an extra 15% off with subscribe and save and then even extra when you order 5+ items delivered in a month. Free shipping with Amazon send me your email and Ill send you link to sign up...these are a few I will add onto list later :)


http://www.amazon.com/gp/product/B00BJH5CFQ/ref=oh_aui_detailpage_o06_s00?ie=UTF8&psc=1

http://www.amazon.com/gp/product/B003TRFU06/ref=oh_aui_detailpage_o07_s00?ie=UTF8&psc=1

http://www.amazon.com/gp/product/B00DILCU92/ref=oh_aui_detailpage_o09_s00?ie=UTF8&psc=1

Traders Joes Gluten Free brownies

When I was home from the hospital one of my friends brought a box of gluten free brownie mix over. We hung out and watched a movie but the box sat in my pantry for a while till I have somewhat recovered from surgery complications. The other day I was missing the therapeutic need of baking. I love baking and miss it so much! I love seeing creations and trying new recipes, especially since going gluten free its a challenge to find good recipes that don't taste like cardboard. We did just that with many items trying different brands and finding secrets from trial and error. I may have told too many people my secrets but hey everyone loves a good recipe. This is more of a review since its from a box. 

I don't normally buy from Trader Joes there are lot of reasons why but Ill leave that out. I followed the box directions for the most part, but I did modify a few things. First I made sure my items are room temperature, I also add extra liquid, coconut oil, and under cooked by the box time estimates. 

 They turned out very chewy and perfectly fudgy like my kids love and my friend came over that day and together the whole thing was almost gone in one day. The girls finished it off the next day and my hubby said it was delicious also. If you love brownies heres one to try!