Friday, March 31, 2006

A Message to a Very Special Person

Each day I find myself in the parent lounge at the hospital, talking to one of the mothers who's child is receiving treatment for their cancer. Some mothers that have come to be with their child live relatively close to Toronto like Durham, Mississauga, and Etobicoke, others live further away and travelled from the Ontario-Quebec border, and still, some come from as far away as New Brunswick and Nova Scotia. Their children's ages range from 3 months to 18 years and their child's reason for receiving treatment are all different. That said, these mothers have one thing in common, they have put their life on hold to be with their child. Day in and day out, you will find them at the hospital either talking with doctors, gowning up to enter their child's room, or discussing what their child's white blood cell count is with another mother in hopes that it reaches that magic number so they may bring their baby home.

When I go to sit down at the computer to write my article for the day I am usually unsure what story or information I will pass on to the friends and family that read this web log. Sometimes I look at the pictures that were taken for the day, other times I will write about some treatment that the doctors have been discussing with us, but today's article has been in my mind for quite some time now.

Parker's diagnosis with ADA has been extremely hard on everyone in our family. The thought of not being able to see Parker, the concept of Parker living out his first year in isolation, and the uncertainty of whether his treatment will be successful is difficult for everyone. But today, this article is not about everyone. It is about my wife.

As a man, I cannot imagine what it was like for my wife to carry my child inside her for 9 months, to know how it felt as she gave birth, or to even conceptualise the bond that she had with Parker whenever she breastfed him. But even more difficult to imagine is how she felt after her little boy got sick and how all the breastfeeding and cuddling in the world could not make him better.

Each day, I get up in the morning and go to work, and each day my wife gets up and goes to the hospital where she can be with her son. She arrives at the hospital between eight and nine, puts on her sterile boots, hairnet, mask, gloves and gown and enters the isolation room where she stays with Parker until we leave that night around eight o'clock. Everyday she puts on a big smile underneath the mask that covers most of her face, opens up her eyes as wide as she can, and sings to him so he can hear her voice. She does this religiously in hopes that he will soon smile back at her.

Everyone I have ever spoken with has always said the same thing. Parker acts completely different when he is with his mother. He settles much more quickly and is definately less fussy when she is around. I have come to realise that there is a very special bond between a mother and her baby and each day I am lucky enough to witness that bond as my wife holds her son close to her body and kisses him through her mask. Now, I understand that Parker has yet to master the concept of language, but I know in my heart that there is a message he would like me to pass on to his mother.

Please know that everytime I see your eyes wide open and hear the songs that come from your direction I know you are smiling at me from behind that mask.
I love you.

Thursday, March 30, 2006

How Does this Kid Do it?

Well, Parker has been off oxygen for some time now. The nurses have repeatedly done spot checks to make sure that his oxygen saturations are above 93%, and they have been. Parker has also been having respitory rates in the normal range of 35-50 breaths/minute. This is down dramatically from the 60-90 breaths he was doing when he was originally diagnosed with PAP (see March 21st article). I don't know how this kid did it but it seems as if he has won his first battle by beating PAP.

The treatment for PAP is a medication called GM-CSF that I had talked about in a previous article. The doctors have decided that they will not be giving Parker the medication when it arrives from the States next week but hold the medication as it has a three year shelf life.

Mommy and daddy are very proud of their little boy for doing this. Although we are not sure exactly why, it could have cleared itself up for a number of reasons. The BAL that was performed with the lung biopsy probably cleaned his lungs somewhat, the IVIG that he was receiving could have played a role, the fact that he is in reverse isolation and free of germs didn't hurt, and finally the fact that he is eating like a normal baby.

Today, Parker had a calorimetry test done. This is a machine that is attached to a box that goes over Parker's head and measures the CO2 and O2 exchange. The purpose of the test is to check his metabolic rate so they can modify his calories appropriately to compensate for his increased metabolism. The test concluded that he burns calories at a rate 1.3 times greater than a normal infant. From my research, I have found that the formula that Parker was on prior to be diagnosed with ADA had 2800 KJ/L. This is typical Enfamil formula. Since being diagnosed, the dietitican has changed his formula to Nestle Quick Start, which he likes better, and increased the concentration of the formula to 3800 KJ/L. A simple calculation will show that this is 1.35 times the normal number of calories in an Enfamil formula. This is more than sufficient to cover his higher metabolic rate caused the ADA deficiency.

To see how this affected Parker, he was born at the 25th percentile for his weight, when we came to Sick Kid's prior to moving to isolation, Parker had already dropped to the 10th percentile. When he did move to isolation he had fallen further to the 3rd percentile for infants at his age. The goal from there on in was to have him gain weight at this percentile and not let him dip any further. As a result of the concentrated formula and Parker's new found appetite, Parker has gone from being at the 3rd percentile to the 4th percentile for his weight. Remember, a small step forward is still a step forward.

Wednesday, March 29, 2006

Is Gene Therapy the Way to Go?

Today my wife and I found out that our HLA is only a 50% match with our son. For those of you who are unaware of what HLA is, I will explain. HLA cells are located in all of you organs and tissue in your body. They let your body know what belongs to you and what is foreign (like a virus). There are many locations where HLA reside but there are only really 6 that are extremely important in making sure that your immune system identifies what is yours and what is not. The chances of you having the exact same combination of HLA as someone else in the world at those spots is extremely slim.

That said, when two people produce a baby they supply the child with half of their HLA typing. Just as you are responsible for giving half of the rest of your genes to your child, you and your spouse do the same for HLA. That means Parker got half of his HLA from me and half from his mother. So at the very least, he would be a 50% match with us. The chances of him being any more of a match than that would require there being some strange similarities in my wife and my genetic makeup if you know what I mean (kissing cousins ... hint hint).

Now, why is HLA important? Well, if Parker is getting stem cells from us that would mean that we would not be identical matches. The only way he would have an identical match would for him to have a sibling that got the same HLA from us. When a stem cell transplant is done with parents it is usually the same situation that we are in (3 out of 6) and is called a Haploidentical Stem Cell Transplant. Sick Kids in Toronto has been successful with this type of treatment; however, it has been unsuccessful more often than not. That said, many of the children were far worse off than Parker, as they had already caught several infections. This presentation by the FDA explains the different treatments that have been done for patients with SCID-ADA and how successful they have been.

The first gene therapy trial ever done was with ADA. The reason being is that SCID-ADA is caused by a single gene, it is easy to regulate as it is always turned on in our bodies, and finally the ADA gene only needs to work at a 10% level to be very successful. The main centers that perform gene therapy are Italy, UK, France, U.S., and Japan. Gene therapy has come a long way since its first use in 1991. The protocol has changes several times.

Currently, Italy has been the most successful with gene therapy. They were the first center to attempt gene therapy and have currently done seven human clinical trials in the past five years with their newest protocol. All of which have been successful to some degree. We have currently been told that the center in Italy would accept Parker in their clinical trials. In the following paragraph I will explain the current protocol for gene therapy as performed by the center in Italy.

The procedure begins by removing stem cells from the patient. These cells are then placed in a culture and infected with a retrovirus that has been encoded with ADA. The patient is conditioned with a medication called busulfan (a mild form of chemotherapy: non-myeloablative conditioning) at a relatively low dose to make space in the bone marrow for the growth of new working stem cells. Once the patient is conditioned, the retovirus with the improved stems cells are reinfused into the blood stream. The retrovirus binds to the cell and allows the RNA to create a small piece of corrected DNA that gets inserted into the patients own DNA. When this occurs we have cells in the body that have a working ADA gene in them. Check out this site for a more illustrated version of what happens at the cellular level. Check other then viruses as vectors and work from their.

Many of you may have read or heard about the deaths in France that occured due to children who obtained leukemia as a result of gene therapy. The reason was that the DNA binded to the incorrect spot in the DNA. The trial consisted of 18 patients. Of those, three contracted leukemia, one of those died. As a result, the gene therapy for SCID patients was discontinued in the United States.

It is to be noted that the trials in France did not deal with SCID-ADA but X-Linked SCID. As a result, the ban on SCID-ADA gene therapy has been lifted in the United States as it follows the same successful protocol developed in Milan, Italy.

Tuesday, March 28, 2006

A Visit From Nonna and Nana

Parker has been extremely lucky the past two days as he has had two very special visitors. On Monday, Parker got to spend the day with his Nonna. He was so excited that he got to hear first hand how much his Nonna loved him and that she is passing on all her strength to him. Nonna got to watch Parker play on his back as he tried to swat at his fish, climb up her gown as he strengthened his neck muscles, but from what I heard from Parker's mommy, he enjoyed sleeping on Nonna's shoulder more than anything else. Parker is so very appreciative of his visit with his Nonna.

Today, Parker got a visit from his other Grandmother, Nana. Parker loves it when his Nana comes to visit him. He enjoys being cuddled up with her as he gazes into her eyes. Parker remembers his sleepovers with Nana before he came up to his new room. He always enjoyed knowing that it was gonig to be her that was staying over with him. Parker loved waking Nana up at night so he could get some alone time with her.

Parker has impressed the doctors so much with his energy, alertness, and positive weight gain. We have learned the integral role that we have played in Parker's successes to date. Daddy and mommy are so very appreciative of their own parents as they have been so supportive throughout this difficult time. More over, we would like to thank them for showing us how to be so loving and caring so that we may make such a positive affect in our son's life.

Monday, March 27, 2006

A Day At the Spa

Each day Parker shows everyone that he is an extremely strong and resiliant baby. With a routine finally set for Parker of sleep, play, and eat he is so much happier. We hardly expected a positive weight change from him after his bath but Parker showed us how well the routine is working by adding another 10 grams to his already chubby little body.

Speaking of bath, Parker has recentently discovered that bath time is not that big of an ordeal. It no longer entails 10 minutes of Parker belting out a high pitched cry while quivering his bottom lip. The little monkey now enjoys the process of being clean. Mommy and daddy now refer to Parker's bath time as 10 miniutes at the Spa. We have yet to decide which form of bath Parker enjoys more, a sponge bath or a full fledge dip in the tub.

With the sponge bath, Parker gets to be snuggled up in a comfy blanket as his daddy holds him. Mommy then uses the warm sterile water to wash his little body parts as the monkey looks on. If it is a full blown bath, we place the little guy in the tub filled with suds, warm sterile water and a bunch of towels and blankets so he can kick up his feet as his mommy and daddy do all the work.

Sunday, March 26, 2006

A Lesson Lived is a Lesson Learned

Parker gained another two ounces over the last day. That is definately the Parker we remember. Before the little monkey got sick he gained weight at a very quick pace. So you can imagine how happy his mommy and daddy are when they see his weight increase. We have been told that the weight gain we are looking for is 15 - 30 grams per day over the stretch of a week. Parker was in that range this week.

After applying what I learned the previous day, Parker had his best day yet on Saturday. Parker's eating habits were a little bit different as he decided he wanted to eat 60 mL every couple hours. Although he was just shy of the 600 mL goal for formula consumed we were very happy with his feeds. Today, Parker had his largest feed ever, consuming 130 mL in a single sitting. To say that he was tired after that is an understatement.

Following a good sleep, Parker and his daddy enjoy playing with his gymni. He loves looking at the fish and trying to grab them. Daddy takes the fish and makes them swim around his little body, nibbling at his tummy and neck. Parker continues to try and flip over on to his side by using his opposite arm and leg as leverage. Daddy sometimes gives Parker a hand in flipping over to his stomach by letting him hold his finger and pulling him. The result is a very happy little monkey lying on his tummy lifting his head as high as he can.

Saturday, March 25, 2006

Is it Play Before Eat or the Other Way Around?

Yesterday was another excellent day for Parker. He fed very well, consumed just over 600 mL and gained a full two ounces. Mommy and daddy were very pleased with the progress the little monkey made on their anniversary.

The dietitian came to visit Parker to measure and record how well he has been growing. Parker’s head circumference has grown a full two centimeters, measured 39 centimeters. His length was recorded at 19.5 inches, half an inch greater than his birth length. These measurements are meant to act as a baseline to refer to from here on in. Although Parker’s measurements were taken at birth the apparatus used here at Sick Kids is much more precise.

Parker may not be growing extremely quickly but all the doctors, nurses and staff have been commenting on how well he is doing developmentally. During his tummy time, Parker was able to lift his head even higher than Thursday. Parker’s climbing has also continued to improve. The little monkey is not a happy camper when I hold him unless I let him climb up my body. Today, his doctor commented on how immpressed she was with his head control. Parker loves his new gymni. You can see him playing with the toys while lying on his back. Something that he really gets a kick out of doing.

If there is something that daddy has learned the past couple of days, it is not to over stimulate Parker after he has eaten. Sometimes it is difficult when all daddy wants to do is play and all Parker wants to do is climb over his daddy’s stomach and look over his shoulder. The end result is usually a good vomit setting us back a 75 – 100 mL feed and daddy feeling a little down for causing it. Parker doesn't like it when daddy feels bad so daddy has learned that it is definately play before food and not the other way around.

Friday, March 24, 2006

How Does Your Baby Say Thank You?

After re-examination of Parker last night at 11pm Parker still did not display a fever. The doctor felt that Parker looked well and was comfortable not starting him on the I.V. at that point. We were all in agreement that Parker would be checked for a fever amongst other things every hour throughout the night to see if antibiotics were warrented. Parker ended up having an excellent night and to this point is still I.V. free.

I understand that everyone has Parker's best interests in mind, whether it be the doctors, nurses, family or friends. That said, Parker can be rest assured that in the end his mother and father understand that they know him like no one else and will always be his final advocate.

After the doctor left last night and I had put Parker to bed, I repeatedly told him that his daddy loved him and that mommy and daddy promise to never let anyone hurt him. My little baby responded by staring his daddy in the eyes and holding the biggest and longest smile I have yet to witness.

Thursday, March 23, 2006

When Did I Get My M.D.?

Parker made me make a medical decision tonight that I did not feel I should have to make. Parker had a rectal temperature of 37.9 degrees at 6 o’clock this evening. When a temperature reaches 38.0 degrees it is considered a fever and a SCID that cannot fight infections must receive antibiotics. As a result, the doctor prescribed antibiotics, which would require Parker to be on an I.V again.

With Parker being so active lately and doing so well off the oxygen you can imagine the anxiety that the thought of placing him back on an I.V. would cause my wife and I. Being on an I.V. unnecessarily would make it difficult for him to climb and push off my hands, as well as making him feel bloated by the antibiotics. As a result, I requested that a second rectal temperature to be taken. The result was 37.4 degrees, not a fever. Unfortunately, this did not sway the doctor of the treatment for the original reading.

Throughout all of this, Parker continued to try and climb up his daddy stomach, watch figure skating, and be placed vertically so he can press his feet on the bed and push off the mattress of the crib.

I had a discussion with the doctor on call as well as his nurse for the evening and informed them that I wanted another temperature reading taken. If that temperature came up as 37.6 degrees or higher then they had my permission to give him an I.V. for the antibiotic, otherwise they did not. They agreed to take his temperature and the result was 37.2 degrees. I informed the doctor that Parker would not be getting antibiotics this evening.

Parker will be monitored throughout the night; his temperature will be taken every hour. If Parker does have a temperature they will have our permission to give Parker antibiotics through an I.V. Let us hope that is not the case.

Parker Plays Peek-A-Boo

Parker has continued to play and eat since we have come to 8B. He finished yesterday with 730 mL of formula, 130 mL more than they had hoped. Way to show the dietitian, Parker. Today, Parker continues to eat at a pace better than expected. He did have a set back when his daddy felt like playing right after a feed causing him to vomit about 75mL.

The only thing that Parker enjoys more than eating is playing with his mommy and daddy. Here you can catch Parker in a game of Peek-a-boo. They don't come any cuter then my son.

The nurse hooked up Parker to the moniter to see how he was doing off of the oxygen. The goal is to keep the little monkey above 94% but my son showed us all how determined he is by satting at 100%.

Parker's neck muscles have matured very well. His favourite past-time is placing his hands on his mommy's shoulders as he looks at the pictures on white board of the other members of his family.

Wednesday, March 22, 2006

A Great Day For Parker

Parker has taken to his new formula very well. Well enough that he actually eats more now than he did before. This morning the nurse fed Parker 120 mL his biggest feed yet. The dietician said she would be very happy if Parker had 600 mL per day. Half way through the day, Parker has taken 400 mL. Can you say little piggy?

The little monkey has continued to use all the calories he is taking to learn as much as he can. We did our first session of ‘tummy time’ today. Parker’s neck is getting very strong as he tries to lift his head to look around. Parker definitely enjoys challenging himself. He loves pushing off my hands with his legs as he tries to show off his strong muscles.

As I sat there this morning holding Parker, I noticed the corner of his mouth move up very slowly, then his mouth opened, and finally up went the other cheek. Yes it was Parker’s first real smile. Then a couple of minutes later Parker showed his mommy and daddy that it was not an accident as he did it one more time.

Quite a few accomplishments occurred today, but what was the most rewarding was that he did all of these without the need for oxygen. Parker went off of oxygen last night for five hours and has been off oxygen since 9am this morning. It is so nice to see the little monkey without a tube in his nose.

When Parker has days like these it makes life so much easier for his mommy and daddy.

Tuesday, March 21, 2006

Did Someone Forgot to tell Parker he is Sick?

You would never know that Parker had some major health problems. The little monkey is an absolute pig. Since coming off of his morphine from the lung biopsy a few days ago his little appetite has grown to quite a large one. We used to have a difficult time having him eat 45 mL of regular formula every 3-4 hours. The past few days, Parker has been eating formula concentrated at 3300kJ/L which has more calories then regular formula. While on this formula, Parker consumed 700 mL yesterday.

Today by 2:00pm Parker had already consumed 500 mL. The dietitian has increased his formula to 3800kJ/L in hopes that he does not want to eat so frequently and for him to gain some weight. With Parker having ADA, his metabolic rate is increased so it takes a lot of calories for Parker to gain weight. The dietitian as well as Parker's doctor is very pleased with his appetite.

When Parker is not eating he is learning. Parker crawled up my stomach today twice by pushing off my hands and grabbing my gown to pull himself up so his head is over my shoulder. He loves to be able to hold his head up over my shoulder so he can look around. Parker's muscles are extremely strong. Yesterday, he tried to roll over on to his stomach while he was being examined by the doctor.

This kid has fighter written all over him.

What is Pulmunary Alveolar Proteinosis?

Parker was diagnosed with PAP from the Lung Biopsy that he had. The toxins in his body can cause problems for Parker and in his case, it made his lungs have to work harder so that he can breathe.

In 90% of the cases of patients with PAP the disorder is genetic and occurs in 1 in 100, 000. But in the other 10% of the people with PAP it is caused by a secondary reason. Heavy smokers and miners usually account for the other 10% as they dirty their lungs.

PAP causes the function of the patient's aveoli to be comprised. This is where the oxygen and carbon dioxede exchange occurs. The problem is that a substance called surfactant (mostly fat) fills the alveoli and the body is unable to remove it. The reason for 90% of the people who have this diagnosis is because cells called macrophages that normally act as a catalist for the cleaning mechanism for the alveoli. The removal of the surfactant is hindered by some other types of cells in the immune system as the interfere with the macrophages.

This interference with the macropahges is not expected to be the problem for Parker, as he does not have much of an immune system. His problem is that the macrophages that act as a catalist for the cleaning process are lacking in numbers. The solution for Parker is to stimulate the production of these macrophages. This will be done with a medication called GM-CSF.

Parker will begin this treatment within the week. However, the difficulty with treating Parker is that infants are not normally diagnosed with PAP, and even fewer have been diagnosed that also have ADA. There is only one other known case of PAP in conjunction with ADA that Sick Kids has dealt with.

Monday, March 20, 2006

Parker's Lung Problem

I had mentioned that infants with ADA have a tendency to have problems with other organs due to the toxins in their body. Parker does seem to have a problem with his lungs. He has been on oxygen since he was two weeks old. Originally the doctors in Scarborough thought he may had pneumonia or another infection that caused rapid breathing and a constant need for oxygen.

This was what brought us to Hospital for Sick Children in Toronto. The fact that Parker was not getting any better. He was constantly breathing 60-80 times per minute when the average number of breaths for an infant should be in the low 40s. As a way to locate Parkers lung infection the respirologists recommended a BAL and lung biopsy.

The BAL is conducted by placing a tube in Parker's trachea into his lungs where about 2mL of saline solution is placed into his lungs and then sucked back up. The result is fluid that can then be tested for a number of viruses and bacteria. After looking at the fluid it was suggested that Parker did not have an infection. What a relief that was.

The lung biopsy came back not as positive. Parker was diagnosed with a rare lung disease that normally id s found in adults. The disorder is called Pulmonary Alveolar Proteinosis. This disorder has recently been found to linked to ADA.

What is SCID and ADA?

SCID stands for Severe Combined Immunodeficiency. That means that Parker's immune system does not work correctly. Your immune system is composed of white blood cells which are composed of different types of cells. Two of those are called T-lymphocytes and B-lymphocytes. The T-lymphocytes are matured in the Thymus Gland and go around fighting different viruses. The B-lymphocytes are divided further into different cells called immunoglobulins. These are antibodies and fight infection. Everyone has many different types of immunoglobulins to fight different types of infections.

A child with SCID has hardly any T or B-lymphocytes and as a result can not fight any virus, bacteria or fungus. This is why Parker remains in isolation. We want to reduce the probability that Parker comes in contact with any germs.

The form of SCID that Parker has is called ADA. This is actually a metabolic problem first and a immune problem second. Parker has toxins in his body that can inhibit his organs. For that reason, it is one of the more troublesome types of SCIDs.

ADA is a very rare genetic disorder. It is autosomal recessive meaning that his parents mut both be carriers of the gene that causes ADA and we both must give or gene that causes ADA deficiency. The statistics for baby to be born with with ADA is one child in every two million. The chances that we will have a child with ADA now that we know we both carry the gene is one in four.

We must say that we are lucky in the sense that we caught Parker's ADA relatively early. We have been in the hospital for 7 out of Parker's 9 weeks. The only way a child is normally diagnosed with SCIDs is to catch quite a few colds, infections, or usually pneumonia. By the time that does occur the child is usually about 6 months old. With Parker, he seemed to have caught broncheolitis or pneumonia at 2 weeks so we brought him to the hospital. They misdiagnosed Parker with pneumonia when he really was just having complications with the toxins and his lungs. In hindsite, Parker was lucky to obtain something that had similar symptoms to an infection. It allowed us to eventually have Parker diagnosed with SCID-ADA at Sick Kids in Toronto.

Sunday, March 19, 2006

SCID, ADA and Parker

This blog is all about our family's dealing with Parker's Immunodeficiency. Parker has a Severe Combined Immunodeficiency called ADA. What this means is that Parker is unable to fight even the simplest of infections. To Parker, the common cold can be as deadly as Pneumonia.

You probably have seen the Seinfeld episode where George plays Trivial Pursuit with the Bubble Boy. Well, Parker is what is referred to as a Bubble Boy. The only difference is that Parker is not confined to a bubble, but an isolation room that filters the air 500 times per hour. We interact with Parker while protecting him from germs using sterile gowns, gloves, hairnet, boots and masks.

While we are at Sick Kid's in Toronto, Parker will not be allowed visitors except from his parents or an approved alternate. So that friends and family know who Parker is we will update this website daily with Pictures and information on the disease and how Parker is doing.