Some of you may be familiar with Emily Pearl Kingsley's "Welcome to Holland" piece (if not, I suggest you click on the link and read it). It is a very sweet piece and something which I find comforting to read when feeling a bit overwhelmed with Malcolm's Ds status. At the same time, I have always been vaguely unsettled that although it seems like a nice mindset and metaphor, I have never really felt like being the parent of a child with Ds is like travelling to the wrong western European country - it seems a bit too trivial, a bit too relaxed. I recently came across an article by Michael Berube, father to a son with Down syndrome and author of the book "Life as We Know It: A Father, a Family and an Exceptional Child". I can't reproduce the entire article, but I identify pretty well with the following:
"Jamie has Down's Syndrome and will have Down's Syndrome all his life, but on most days, for most purposes, all that means to his mother Janet and to me is that he's sometimes hard to handle, sometimes impervious to danger, always impervious to the benefits of fruits and vegetables, always willful...I like to think we were asking for a story more adequate to the grainy details of our lives, a story that acknowledged all the ordinary and extraordinary difficulties of parenting a child with Down's Syndrome. It's not simply a matter of exchanging Rome for Amsterdam, resetting your sights accordingly, and settling in to have a good time. In fact, it's nothing like a vacation at all. It's more like discovering that you'll be living the rest of your life in a country that may be physically and spiritually gratifying but might also be volatile, unmapped and terrifying."
For those of you who wish to read the full article and have access to academic journals, the abstact and citation is here (it's also indexed on PubMed). Sometimes it is interesting to reflect on how others in a similar situation view the complexities of have a child with Ds.
Mary Ellen
Sunday, May 29, 2011
Tuesday, May 24, 2011
Four month checkup
Malcolm's four month checkup was today and all of his bloodwork is fantastic. His platelets are a whopping 348, hemoglobin 146, white blood count 5.7 and ANC 1824. So all of his counts are well within the normal range. It is the first time since treatment ended that everything has been normal. His white count and ANC had been a bit low all winter. The doctor confirmed that Malcolm's disease would likely be visible by now if it was going to recur. So for all intents and purposes I think we can consider him cured of cancer!
It has been almost one year exactly since Malcolm's leukemia diagnosis began to unfold. It has been quite an experience and one that we would sooner forget than ever relive again. But it is nice to reflect that we live in an era where it is almost routine to cure diseases that would have been close to a death sentence even two decades ago. Hopefully progress will continue to be made in curing childhood diseases - one of the most difficult parts of being in hospital was seeing children who were so much worse off then Malcolm...
Malcolm continues to do really well at daycare. Last week when I went to pick him up one night he was participating with the other kids in the actions to "Row, Row, Row Your Boat". Sometimes he asks to see Donovan (by making his sign for Donovan) and if possible one of his teachers takes him for a little visit to Donovan's room (what great staff at the daycare!) His class goes on a lot of walks outside and will walk for several blocks. Malcolm walks until he gets tired - usually about 15 minutes - and then he can go into a stroller (the rest of the kids are expected to walk all the way!) I think this has been working well so far - my only concern is that he will get a bit lazy and not push himself - it is so much easier to ride in comfort in the stroller! But we will see how it goes.
His regular teacher is away this week but he is familiar with her substitute and had a good day today. He continues to do well with his signs though I have been remiss in not introducing any new ones this month - seemed like a lot for me to transition to work and for him to transition to daycare but we must resume moving forward in June. We are trying to get him to use more combinations of signs (for example, "want more cracker" instead of just "cracker") but Malcolm seems to feel that the one-sign method is more efficient and just as effective most of the time. Difficult to convince him otherwise!
Donovan is also doing well - he continues to enjoy swimming lessons and starts soccer next week. He has a school orientation session coming up in June. He continues to be Malcolm's biggest fan and rolemodel.
Mary Ellen
It has been almost one year exactly since Malcolm's leukemia diagnosis began to unfold. It has been quite an experience and one that we would sooner forget than ever relive again. But it is nice to reflect that we live in an era where it is almost routine to cure diseases that would have been close to a death sentence even two decades ago. Hopefully progress will continue to be made in curing childhood diseases - one of the most difficult parts of being in hospital was seeing children who were so much worse off then Malcolm...
Malcolm continues to do really well at daycare. Last week when I went to pick him up one night he was participating with the other kids in the actions to "Row, Row, Row Your Boat". Sometimes he asks to see Donovan (by making his sign for Donovan) and if possible one of his teachers takes him for a little visit to Donovan's room (what great staff at the daycare!) His class goes on a lot of walks outside and will walk for several blocks. Malcolm walks until he gets tired - usually about 15 minutes - and then he can go into a stroller (the rest of the kids are expected to walk all the way!) I think this has been working well so far - my only concern is that he will get a bit lazy and not push himself - it is so much easier to ride in comfort in the stroller! But we will see how it goes.
His regular teacher is away this week but he is familiar with her substitute and had a good day today. He continues to do well with his signs though I have been remiss in not introducing any new ones this month - seemed like a lot for me to transition to work and for him to transition to daycare but we must resume moving forward in June. We are trying to get him to use more combinations of signs (for example, "want more cracker" instead of just "cracker") but Malcolm seems to feel that the one-sign method is more efficient and just as effective most of the time. Difficult to convince him otherwise!
Donovan is also doing well - he continues to enjoy swimming lessons and starts soccer next week. He has a school orientation session coming up in June. He continues to be Malcolm's biggest fan and rolemodel.
Mary Ellen
Thursday, May 5, 2011
TMD Screening
TMD is estimated to occur in approximately 10% of newborns with Down syndrome and the mortality rate may be as high as 15 - 20%. In addition, 20-30% of individuals with TMD will go on to develop leukemia (AML) within the first four years of life. Early detection and treatment of this disease is important to promote a positive outcome.
Most people reading this blog know that we are the parents of a son with Down syndrome. Malcolm was diagnosed with TMD within hours of birth. Several weeks later he developed life-threatening complications from the TMD that, through timely and appropriate treatment, were successfully overcome. When he was 20 months old it was established that the disease was progressing to leukemia. He completed treatment for AML and continues to be disease-free. The physician attending his birth ordered a CBC because he had an unusual rash at birth. She mentioned that, were the rash absent, she likely would not have ordered the bloodwork. We subsequently found that whether or not a CBC is ordered for newborns with Down syndrome varies widely among primary health care providers, and that the majority of infants with TMD are asymptomatic at birth. We are concerned because we feel that his positive outcomes were due to early diagnosis of the disease, which ensured close monitoring by hematology/oncology specialists.
We are seeking to raise awareness of the importance of screening for TMD to promote positive outcomes in all children with Down syndrome who may have the disease. Below is text from a letter we have written to various Canadian organizations in hopes that they will assist in educating doctors about the disease in the importance of screening:
Most people reading this blog know that we are the parents of a son with Down syndrome. Malcolm was diagnosed with TMD within hours of birth. Several weeks later he developed life-threatening complications from the TMD that, through timely and appropriate treatment, were successfully overcome. When he was 20 months old it was established that the disease was progressing to leukemia. He completed treatment for AML and continues to be disease-free. The physician attending his birth ordered a CBC because he had an unusual rash at birth. She mentioned that, were the rash absent, she likely would not have ordered the bloodwork. We subsequently found that whether or not a CBC is ordered for newborns with Down syndrome varies widely among primary health care providers, and that the majority of infants with TMD are asymptomatic at birth. We are concerned because we feel that his positive outcomes were due to early diagnosis of the disease, which ensured close monitoring by hematology/oncology specialists.
We are seeking to raise awareness of the importance of screening for TMD to promote positive outcomes in all children with Down syndrome who may have the disease. Below is text from a letter we have written to various Canadian organizations in hopes that they will assist in educating doctors about the disease in the importance of screening:
We are writing to urge you to consider an addition to the Health Care Guidelines for Individuals with Down Syndrome [1] in common use by physicians and pediatricians in Canada. We believe that the guidelines should clearly indicate that all newborns with a preliminary diagnosis of Down syndrome should be screened for evidence of Transient Myeloproliferative Disorder (TMD). It is important that physicians understand the importance of a complete blood count to screen for TMD.
TMD has, historically, been considered by the broader medical community to be a relatively benign disorder that usually resolves spontaneously. Although the Down Syndrome Medical Interest Group in 1999 recommended a hematocrit or complete blood count for all newborns with Down syndrome as a screening measure, it appears that this recommendation has not been well communicated to primary care physicians and the blood count does not appear to be routinely ordered in Canada. This is in spite of several recent peer reviewed articles and reviews in prominent medical journals that present strong evidence that TMD is not a benign disorder and that there would be benefit (and minimal cost) were all newborn children with Down syndrome screened.
It is estimated that TMD occurs in as many as 10% of newborns with Down syndrome [2]. There have been large studies in the United States, Japan and Europe that recently report that early death resulted in 15 to 20% of infants with TMD (not including stillbirths; [2,3]). Deaths are typically the result of cardiopulmonary, liver and/or hematological complications resulting from the TMD. The majority of newborns are asymptomatic [4] while others are symptomatic. Infants that develop severe symptoms may require an exchange transfusion or similar procedure, chemotherapy and/or supportive nursing care.
In addition to the risk of death due to TMD, it is estimated that 20-25% of infants with TMD will go on to develop acute megakaryoblastic leukemia (AMKL), a type of AML, within the first four years of life ([2,5,6]; 13-33% in ref. [4]). While therapies continue to improve, it is generally estimated that up to 20% of these children will not survive [3]. A positive prognostic factor is a young age (under two years old for AMKL specifically in [7]; under four for AML in general in [8]) at time of diagnosis.There are, then, two strong reasons for screening for TMD. The first reason is to ensure that the TMD itself is carefully monitored, particularly given the lack of symptoms in most newborns, to watch for the development of severe symptoms that could lead to death in the first few months of life. The second reason is to monitor all children with TMD for progression to AMKL to ensure the onset of this disease is diagnosed as early as possible in order to promote the best possible outcome.
Both of these reasons are, to us, compelling and we are concerned that the medical community has not taken the appropriate steps to ensure that robust screening practices are in place. There has been much research into TMD, AMKL and the connection between these disorders over the past decade resulting in a greatly increased understanding among hematologists of both diseases. However, this understanding has not yet translated into changes in clinical practice to better identify those most at risk.
It is our sincere hope that you will champion and promote screening of infants with Down syndrome in Canada to your members and the broader medical community. We are confident that you will find that the recent medical science in relation to TMD supports screening more strongly than ever. Determining which infants have TMD is necessary to ensure the wellbeing of a vulnerable group of children.References
[1] Cohen WI. Health Care Guidelines for individuals with Down Syndrome – 1999 revision. Down Syndrome Quarterly. 1999; 4:1-16.
[2] Hitzler JK. Acute Megakaryoblastic Leukemia in Down Syndrome. Pediatric Blood & Cancer. 2007; 49:1066-1069.
[3] Malinge S, Izraeli S and Crispino JD. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood. 2009; 113:2619-2628.
[4] Klusmann JH, Creutzig U, Zimmermann M, et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008; 111:2991-2998.
[5] Hitzler JK and Zipursky A. Origins of Leukemia in Children with Down Syndrome. Nature Reviews – Cancer. 2005; 5:11-20.
[6] Xavier AC, Ge Y and Taub J. Unique clinical and biological features of leukemia in Down syndrome children. Expert Reviews. 2010; 3(2):175-186.
[7] Gamis AS. Acute myeloid leukemia and down syndrome evolution of modern therapy – state of the art review. Pediatric Blood & Cancer. 2005. 44: 13-20.
[8] Creutzig U, Reinhardt D, Diekamp S, Dworzak M, Stary J and Zimmermann M. AML patients with Down syndrome have a high cure rate with AML-BFM therapy with reduced dose intensity. Leukemia. 2005; 19: 1355-1360.
Additional references:
Dixon N, Kishnani PS and Zimmerman S. Clinical Manifestations of Hematologic and Oncologic Disorders in Patients with Down Syndrome. American Journal of Medical Genetics Part C Seminars in Medical Genetics. 2006; 142C: 149-157.
Massey GV. Transient Leukemia in Newborns with Down Syndrome. Pediatric Blood & Cancer. 2005; 44:29-32.
Massey GV, Zipursky A, Chang MN, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children’s Oncology Group (COG) study POG-9481. Blood. 2006; 107:4606-4613.
Roy A, Roberts I, Norton A and Vyas P. Acute megakaryoblastic leukemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. British Journal of Haematology. 2009; 147:3-12.Wednesday, May 4, 2011
Back to work
I returned to work which means Malcolm has started daycare. He finished his second day today. He has had two fantastic days. He has been happy, active, eating and sleeping well - generally having a good time. This has been a big relief. I have had two great days at work as well so lots of excitement this week.
Malcolm had a speech therapy appointment last week. He is continuing to make good progress with his signing and comprehension but his verbal speech seems, to me, to be moving very slowly. There is a huge disparity among individuals with Down syndrome in terms of how well they are able to verbally communicate. We continue to be hopeful that Malcolm will develop a pretty good grasp of speech and are trying not to be discouraged in these early days. We have read that some children do not develop verbal speech until around age 4 but go on to be quite proficient. Certainly he is a joy to be around regardless of progress in this area. His speech therapist is very enthusiastic about supporting him in his daycare environment and will likely visit him there sometime in June.
We also went to the hospital for a visit to PT to have orthotics made for his new shoes - Malcolm's feet have finally grown and he now wears size 7. His balance is steadily improving and it is possible for him to go walking with us around the neighbourhood without needing his stroller. So good progress there.
April was a month full of appointments and we will have far fewer in May. It is nice to be able to focus on work and routine life again.
Mary Ellen
Malcolm had a speech therapy appointment last week. He is continuing to make good progress with his signing and comprehension but his verbal speech seems, to me, to be moving very slowly. There is a huge disparity among individuals with Down syndrome in terms of how well they are able to verbally communicate. We continue to be hopeful that Malcolm will develop a pretty good grasp of speech and are trying not to be discouraged in these early days. We have read that some children do not develop verbal speech until around age 4 but go on to be quite proficient. Certainly he is a joy to be around regardless of progress in this area. His speech therapist is very enthusiastic about supporting him in his daycare environment and will likely visit him there sometime in June.
We also went to the hospital for a visit to PT to have orthotics made for his new shoes - Malcolm's feet have finally grown and he now wears size 7. His balance is steadily improving and it is possible for him to go walking with us around the neighbourhood without needing his stroller. So good progress there.
April was a month full of appointments and we will have far fewer in May. It is nice to be able to focus on work and routine life again.
Mary Ellen
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