New England Consortium of Metabolic Programs
2010 Annual Meeting Report
Thank you to everyone who came to the annual meeting of the New England Consortium of Metabolic Programs on November 12. From your evaluation forms, we believe that you enjoyed the meeting as much as we did and we look forward to seeing you all again at next year’s meeting: October 21, 2011. Please mark your calendars!
Susan Waisbren, PhD began the meeting by speaking about her mentor, Dr. Seymour Sarason, who recently passed away. Dr. Sarason is a perfect model for us as we go forward, because he emphasized the importance of understanding historical context, encouraging personal growth, and advocating societal (not just individual) change. He was willing to acknowledge that problems will always arise; we have to be aware of this and be willing to tackle them creatively and thoughtfully—and to pass the torch on to the next generation. With that in mind, Dr. Waisbren would love some younger help with the Consortium!
Madelena Martin, MD started off the brief reports with a description of the changes that occurred in the curriculum at UMass Medical School, that brought Biochemical Genetics to the top spot on the “marquee”. The very first lecture for the first year medical students was about OTC Deficiency and PKU! Dr. Martin is part of the initiative to incorporate clinical experience into science classes during the first two years and convinced her colleagues that bringing in clinical experiences would enliven the biochemistry course and help the students learn.
Inderneel Sahai, MD reported on the New England Newborn Screening Program. Expanded screening is moving forward. The false positive rates remain fairly low. The most important goal is to do a better job of explaining to families what their child’s results mean. Disorders like SCAD, for example, aren’t high risk, but many families are needlessly worried about them because they don’t understand the diagnosis. Long-term follow up has improved in the past year, after the 2009 meeting, and the lab has contacted a number of older patients for follow-up.
Freedom Baird, MS gave a presentation about the Consortium website (newenglandconsortium.org). She has redesigned and updated the site to include a news section, an index, and a search function. There are now 98 new pages of content, half of them for families and the rest for professionals (physicians/scientists/teachers and others). The site has 1200 visitors each month, from all over the world, reading 3300 pages of content per month. Ms. Baird hopes to get more content from Consortium members. If every member contributes one item each year, we will have five new items each month. Good, new content encourages readers to come back and to spread the word to new potential visitors. The website’s goals for the coming year are to add more content, complete the Maternal PKU module, update the acute illness protocols, add content about the psychological aspects of metabolic disorders, and possibly set up a forum through which Consortium members can communicate. She suggested Linked-in as a possibility for the latter.
Monica McClain, PhD gave us an update on the New England Genetics Collaborative, which has a core staff housed at the University of New Hampshire Institute on Disability. The NEGC has formed several work groups: one to develop a tool for elementary school special education, one to improve approaches to children with developmental delays, one to increase long-term follow up, and one to work on quality improvement in the laboratory. The NEGC is also conducting interviews about the problems that are faced in treating patients with genetic metabolic disorders. They hope to redesign the website soon and would like some advice from Freedom Baird.
Lynn Paoella presented the news from the New England Connection for PKU and Allied Disorders (NECPAD), the family and patient support group for New England. They had their annual Apple Fest this fall, with 140 attendees. They are looking forward to the Christmas party and a winter gathering in early 2011. They are also busy planning the Biannual Conference, which will he held in June 2011 and will have the theme of “Building Connections.” Ms. Paolella expressed an appeal for support for NECPAD. The group needs more board members (at least one from the Consortium would be particularly welcome) and asks that the clinics help by distributing its brochure to families, along with a brief introduction to encourage patients to sign up for the group. They also need volunteers to help with fund raising. The funds they raise go to support scholarships for students with PKU and allied disorders, reimbursement of medical expenses, camp scholarships, and the purchase of refrigerators and other supplies. This year, NECPAD has distributed around $75,000 in funds to patients. Please help!
Hunter Rametta, another member of NECPAD, told us about the New Orleans PKU Summit meeting that she attended. NECPAD is now a charter member of the National PKU Alliance (NPKUA). The NPKUA supports an initiative to provide information and support for adults with PKU. They hope to create a website mentor program and to help adults learn to advocate for themselves. Part of this is to prepare teens for transition to adult healthcare.
Chris Howell gave a presentation on The PKU Challenge, a social network site with 3 objectives: Search, Rescue, and Interact. He wants to find all the PKU adults who have been lost to follow-up, help them to improve their lives, and provide them with a network of others with PKU. Chris Howell has PKU and works to develop personal relationships with other PKU adults. He has already located over 500 adults. He now needs help from clinics to encourage adults to visit the website (www.thepkuchallenge.com). He concluded by saying “PKU is lifelong; PKU support should be as well.” Several of the audience members expressed the hope that this organization will be extended to individuals with other metabolic disorders as well. Mr. Howell hopes he can do that but wants to find all of those with PKU first, and will eventually need to have funding.
Discussion of transplantation in Metabolic Disorders
Matthew Fickie, MD presented on the ethics of transplants in metabolic disorders. Dr. Fickie works at Baystate Medical Center in Springfield, MA and participates in the genetics and research department at the center for Bioethics. His presentation included discussion from other conference attendees. What follows is a summary of both his talk and the other points that were brought up from the audience.
In theory, body-wide enzyme deficiency (due to a number of disorders) can be remedied by implanting a liver with normal enzyme function. Before 2001 there were many complications associated with liver transplants, but the procedures have improved since then, and the four patients followed in the last nine years are all living. However, there are a number of medical and ethical issues related to the surgery. First of all, a liver transplant is not a cure for MMA or PPA, and there is no guarantee that such a transplant will even allow for a slightly less restrictive diet in a patient with one of these disorders. Unfortunately, many patients with metabolic disorders who have a transplant no longer return to the metabolic clinic, so little information about their long-term metabolic status has been accumulated. Ethically, there is a problem with liver transplants for metabolic disorders, because livers are in such short supply (there are currently 25 children in New England waiting for a donated liver). There are patients who have different (non-metabolic) disorders with more serious effects, which have no other treatment options available, and thus require acute liver transplant. Dr. Fickie explained that there are several approaches to organ allocation justice. The utilitarian approach is to try to maximize the most for the most people, and the idea of “quality of life years” (QALYs) is examined through this lens. In the deontological approach, we try to maximize equity. And in the Rawlsian approach, we try to help the worst off. There was an intense discussion about how we assess quality of life. We can ask the questions “Is it in the patient’s best interest to remain in his/her current state?” or “Would you want to be sustained in this state?” or finally “Should society endorse the use of organ donation to sustain the lives of the neurologically devastated?” However, it was pointed out that we cannot impose our assessment of quality of life on a child who may not be able to walk or talk, but may experience joy in life.
This brought us to the question of who we should be advocating for. Doctors should obviously be advocating for their patient—but they have to always remain aware that they have other patients as well. Furthermore, advocating for one’s patient may be different from simply doing what the patients’ parents want. This brought up the importance of communicating with families and making them understand the risks and benefits of different choices. The “domino” liver transplant may increase the likelihood of transplantation for patients with metabolic disorders who have not yet experienced devastating effects from the disorder. The liver of the patient with a metabolic disorder can be safely transplanted in a patient without a metabolic disorder and will work normally. This may allow for more metabolic patients to have the opportunity for this treatment.
Reports from State Public Health Department Representatives
Sally Rosengren, MD from Connecticut started off the State Reports. Connecticut will introduce a new screening algorithm on December 1st. The plan is to screen infants admitted to the NICU, at discharge from the NICU, and then at sometime between 42 and 78 days after birth. There has been a lot of backlash from neonatologists about this.
Liz Plummer, nurse coordinator for Newborn Screening in Maine, said that short-term follow-up systems are being improved and updated. They are considering the addition of SCID. They are also starting on some improved long-term follow-up. One of their most important goals is to help Primary Care Providers understand metabolic patients’ follow-up needs. Maine struggles with the challenge of its geography, because it is such a large, rural state. Maine is considering a new NICU protocol, will be reinstating their newsletter, and will be starting to report phenylalanine results electronically. Finally, Maine NBS is working with nursing students to provide genetics classes.
Janet Farrell of Massachusetts said that the state has been focusing on long-term follow-up this year. Massachusetts has a very active committee to review NBS issues.
Marcia Lavochkin, NBS coordinator for NH, reported that they added screening for Tyrosinemia to their panel as of July 1, 2010. This addition was possible because of the improved screening algorithm for this disorder at the lab, as reported earlier by Neela Sahai. Other than this small change, the state screening panel has remained stable since its last major expansion in July 1, 2007 which added screening for 19 metabolic disorders. The current panel is at 33 disorders. No other changes are planned at present. NH does have some concerns about “inconclusive findings”. This issue was especially noted recently in regards to a couple of cases of CUD. Confimation of this diagnosis in these two infants has not been a clear path. NH is actively engaged in short term follow-up. The department has not yet made a commitment to the process of Long Term follow-up however.
Karen Lemke presented the news from Rhode Island, which, like Maine, is considering SCID and assessing follow-up procedures. The major problem in Rhode Island is with the stress placed on families when there are false positives. Because the incidence of home birth is on the rise, the NBS department has developed a packet for midwives to distribute to families. Rhode Island is also in the process of revising its NICU policy.
Dell McDonough summarized the news from Vermont. 5727 babies were screened last year and 22 were identified with disorders.
PKU in China
Frances Rohr, MS, RD, presented highlights of her trip to China this past year as part of an effort to launch PKU formula in China. While there, she visited the NBS program and PKU clinic, met with the Ministry of Health regarding training requirements for dieticians, and presented a paper on PKU. A donation program for PKU formula has been launched, which will provide enough formula for 500 children for 4 years. They are trying to train NBS personnel and clinicians. NBS started in China in 1981. In 1989, the first neonatal screening program was launched in Beijing. In the early 1990s, NBS was supported in 7 cities, but nowhere else in China. In 2006, 25% of newborns were screened. 98% of babies in urban areas were screened, but there is little information about rural areas.
At the Beijing Neonatal Screening Lab and PKU Clinic, Ms. Rohr did not get to interact with any patients; she only saw rooms. She learned that NBS results go directly to families, rather than through a doctor, which means that intervention and education are not guaranteed. There are not yet any dieticians who have been trained about PKU. Formula is prescribed by a chart, rather than on an individual basis.
1 in 11,000 babies in China has PKU. Once Chinese babies have been identified as having PKU, there are new struggles to overcome. The cost of formula is $1500, and the average yearly income in China is $2025. Many families simply cannot afford to care for children with metabolic disorders. We watched a moving piece done by Mead Johnson about a family with a little boy and girl, both with PKU. The mother abandoned the children when the diagnosis was confirmed. The grandparents have to care for the children while the father works all of his waking hours in order to afford special food and physical therapy for them. We may want to think about ways to support efforts to improve access to care for patients with PKU and other metabolic disorders in China.
Carl Cooley, MD introduced the break-out sessions. He noted that communication with the family and PCP shortly after diagnosis and again at transition to adult care may be the two most critical moments in healthcare for individuals with metabolic disorders.
Medical Group: Where is the best place to serve adults with metabolic disorders? Adults do not want to attend pediatric clinics, but PCPs don’t know enough about metabolic disorders.
Public Health: Communication is vital, particularly between PCPs and medical homes. There is a lack of interaction between NICU and medical homes, and results often are not getting communicated. There seems to be a general lack of knowledge about the role of NBS. Relationships are the key to success.
Dieticians: YMCA Camp had 18 children with PKU. This is a great way to encourage patients’ independence. MPKU study may also be helpful.
Psychosocial Outcomes and Transition Issues: A written policy is needed about the importance of long-term psychological follow-up in addition to medical monitoring. As patients mature, it is beneficial to involve them (not just their parents) in their own care and to motivate them.
Your evaluations suggested that the presentations were highly regarded (with ratings above 4.7 on a scale of 1-5). The displays from vendors provided valued information for clinicians and were interesting for other participants, as well. The food and location were well appreciated. The break-out sessions may need to be revised next year. Please pass along any suggestions. Additional photos of the day’s events are here.
Once again, thank you presenters and participants! A special thanks goes to Vera Anastasoaie for organizing the meeting and to her assistants, Stephanie Petrides and Lydia Carr. Finally, thank you Lydia Carr for major help in preparing this report.
Susan Waisbren, PhD
Director, New England Consortium of Metabolic Programs