WINGS WAGR Information, News, Gorilla Stories

International WAGR Syndrome Association www.wagr.org P.O. Box 392 Allen Park, MI 48101 Spring/Summer 2009

We continue to pursue grants as well Calling all UK WAGR as creative ways to raise funds for the Families From the organization. The IWSA “End of the Year Ask” letter was very successful The Network UK will hold- President's and we plan to continue this every ing their annual gathering in May. year. Jenny Langley, ANUK Secretary and pen WAGR representative would like to Unfortunately the March of Dimes know if there are any WAGR families Michigan Chapter Community award interested in gettting together? Dear Families & Friends, was not renewed for 2009 due to cut backs. This $1,000 grant was used Meeting space would need to be I would like to begin by thanking all in 2008 to offset some of the secured. If you are interested in a UK WAGR Gathering please contact our donors. During these difficult and printing/mailing expense of our news- Jenny at [email protected] uncertain times your kindness and letter. generosity is helping offset many Details of the Aniridia Network UK organization expenses. Just a reminder that our online survey 2009 AGM: "WAGR Syndrome: The and Date: 16th May 2009 This includes the printing of our Urinary Tract" is currently underway. Time: 10:30am - 4:30pm and op- updated brochures, printing and For more information please visit our tional social event afterwards mailing expense of our newsletters, website at Venue: The Resource Centre, gifts to hospitalized children, general http://www.wagr.org/survey2008.ht- Holloway Road, London operating expenses, rental space and ml. Cost: £10 for adults who are mem- meals for WAGR Weekend, and bers, £15 for adults who are not assistance for families to attend On behalf of the IWSA Board and members. Children go free. WAGR Weekend. Officers we would like to extend our deepest gratitude to Karen Rose and The IWSA purchased the Rose Mallon, two of our founding On the Inside QuickBooks online accounting soft- members, for the time and energy they ware program to help Treasurer, Jeff donated to make the IWSA what it is Silver Linings Pg 2-5 Hefty manage our financial business. today. Group Homes - My story We also purchased Wrightslaw by Caroline Larson Pg 5 Webinar CD’s. The CD’s are avail- The IWSA is a 501(c)(3) organiza- able for our families to check out tion that accepts both financial and NIH Update and Parent Visit Recap when needed. in-kind contributions. Some of the Pg 6-8 in-kind services we are in need of WAGR Weekend 2009 Pg 8 Wrightslaw is the leading website include: legal advisor, Certified Public Nephrology 101 - What every parent about special education law and Accountant, donated or discounted advocacy. Anyone interested in print services, office supplies, gift cards MUST know Pg 9-10 learning more or borrowing the CD’s for sick children and supplies for our Behavior Disorders - Coping with please contact Educational annual WAGR Weekend event. If you explosive or aggressive behaviors Consultant, Rhonda Sena at - can help or know of somebody that Pg 11 [email protected] can help with an in-kind contribution, Winningplease email Attitudes, [email protected] Great Rewards 1 fulfill her dream of being a cheer- receives services from her vision Silver Linings leader. Our town had a new itinerant, who is also her mobility competitive, travel football league teacher. She has an adaptive PE ’d like to share my daughter, along with a new cheerleading teacher who helps to modify things I program. It is a no-cut program, for her in PE so that Kaitlyn can Kaitlyn, with everyone. She is th for kids thru age 13. She did really safely participate. 12.5 years old and in 7 grade. well learning her cheers and Kaitlyn has 2 sisters, 1 brother, performing! Next fall, she will Kaitlyn works hard for her grades, and a baby sibling on the way. cheer again and is looking forward sometimes she does struggle. I’d She is the oldest. We don’t know to it. Thru school, she has been in like to brag on her behalf and let the gender of our baby, but Kaitlyn chorus since 5th grade. Kaitlyn you know that last year she made is hoping for a girl. She is getting loves to sing! Her other school high honor roll for 1st quarter and excited for my induction date of activity is student council. Last then was on honor roll for the rest March 19. Kaitlyn is a great sister, year she was a representative and of the year! This year, she is she loves to help out her siblings, this year she is the fundraising following the same pattern. It is but sometimes tends to be a little co-chairperson. Next year she wonderful to see her hard work on the bossy side! She is the hopes to be the dance committee paying off and knowing that she closest to her 8 year old sister, chairperson. really can do well in school! Lauren, and the two of them spend a lot of time doing things together. As I mentioned, Kaitlyn is in 7th Lastly, I’d like to talk a little bit Joe and I are raising our family in grade. She enjoys middle school. about her health. Her vision is Woodstock, IL. We are about 20 Her school is from 6th-8th grade. It 20/400 and cannot be corrected minutes south of the Wisconsin is hard to believe she’s half way with glasses. She does have and Illinois border. thru middle school. It seems like nystagmus, aniridia, bi-lateral just yesterday I was so worried present since birth, and Kaitlyn is active in several activi- about her making the transition she developed glaucoma about ties. She has been in Girl Scouts st and if middle school would be too four years ago. She did have since 1 grade; this year is her first overwhelming for her. It has Wilm’s tumor, which was discov- year as a Cadette scout. She is proven not to be! She does like ered on March 17, 1999. We are actively working on earning her school and her friends and activi- rapidly approaching the 10 year Silver Award, which is the highest ties there. Kaitlyn is main- anniversary of the rollercoaster award a Cadette can earn. Last streamed, with the exception of that goes along with a Wilms year, she started taking swim reading and language arts. She is diagnosis. This year when we lessons thru NISRA, which is a in a resource class for those two celebrate her becoming a teen- special education park district. classes, and they are back to back ager, we will also be celebrating She gets one-on-one assistance taught by the same teacher. ten years of her being cancer free! during her lessons. When she first She did end up having a complete started, she was afraid to get her Kaitlyn reads about 2 grade levels left nephrectomy, followed by face wet. In just one year’s time, behind, and she has a hard time chemo of vincristine and dactin- she has mastered going under, comprehending what she’s read. omyacin. We still follow up with front float, and front glide. She’s Some of her IEP requirements are ultrasounds every six months. been working now on her back large print textbooks, with an extra She also gets ultrasounds of her float and front crawl arm move- set at home so that she doesn’t ovaries, and there is no sign of ments. This past fall, she got to have to bring them back and forth them being abnormal. Kaitlyn has to school, a CCTV, another device hallux valgus on both feet, which which has a camera she points at makes it hard to find her shoes things (like the board) and then it that fit. So far, she doesn’t transmits the image to a flat complain of any pain. This spring, screen/panel TV for her to see at we have to take her to a pediatric her desk, enlarged assignments rheumatologist to get a diagnosis on large size paper, extra time for on her hands. She may have tests, reduced assignments (but rheumatoid arthritis. Both ring most of the time she ends up fingers are showing characteristics doing the entire assignment), and of it and she can’t straighten them. two desk spaces so that she can Another journey she is about to sit at one and her textbook and embark on is braces. She goes to materials at the other. She is the orthodontist at the beginning of assigned a one-on-one aide who March to get them put on. Right is with her most of the day. That now she is looking forward to aide was assigned to her at the them, saying how cool they are. beginning of 6th grade and made a We’ll see how long that attitude dramatic difference with how well lasts once the pain sets in. she transitioned. Kaitlyn also

Winning Attitudes, Great Rewards 2 Last summer, Kaitlyn was spon- he said “Jen she is not looking at and we had this beautiful blossom- sored by our city’s Lion’s Club to me, you need to take her in to see ing daughter. Ahh, life was great attend Camp Lions, a camp for someone”. Those words hurt but again! We had gotten on the visually and hearing impaired chil- also made me quit denying. I mailing for the WAGR group when dren. It was an overnight camp; knew, oh God how I knew. In his we initially were told about the she was there from a Sunday thru office I pulled out the phone book possibilities. However, at 5 Saturday. I was so worried she’d and made an appointment with a months of age we saw the geneti- be homesick being away that long, pediatric opthamologist. No refer- cist and were told that the likeli- but I was wrong. She loved it! ral no searching no nothing. Just hood that Grace would develop The campers got to do crafts, a cold phone call and by the grace Wilms tumor was less than 1%. swim, have campfires, horseback of God I had picked the most Grace was not like those kids I ride, etc. It was such a nice feeling amazing well respected doctor in read stories about in the newlet- to send her off to a camp that was southeast Michigan, Dr. Baker. ters. Those stories made me sob specifically designed for children My appointment with Dr. Baker everytime I read one. Grace had with needs like hers. I just got a was in 2 weeks. We started aniridia with some complications. I phone call that they want to preparing ourselves for a blind was living in my perfect world or sponsor her again this summer! child. I was ok with that as long as denial. We got involved with an she was healthy in every other aniridia group and went to a Thank you for taking the time to way. We even joked about having conference in Louisville, Kentucky. read about Kaitlyn. I’ve enjoyed a “real” dog finally. We met other families with kids sharing her with you! and adults living with aniridia. We My once again perfect world came had high hopes. There was mild Karen Wietermann tumbling down the day we met Dr. to severe cases, but they lived Baker. He said she has aniridia. “normal” lives. They attended My medical background clued me school, college, had jobs, were into the fact she was born without married. I was happy! A Perfect World irises. She has cataracts, and nystagmus. Is there an end to Routine ultrasound in May was Nine and one half years ago I had what he was saying? I mean how one month later. We had just had a fantastic pregnancy, my second. much can one absorb as the tears one in December, and all was Two weeks over due and along started flowing freely. Ok get a clear. My perfect world just ended. came my beautiful daughter, grip she has some eye problems I I was told Grace had a tumor in Grace. Uneventful labor and mean what the heck I was already her kidney. I told the doctor he delivery healthy baby girl. She prepared for a blind child. Now the was wrong. My baby was fine, she wouldn’t open her eyes. My real kicker came when he started is only 20 months old, and what 20 midwife encouraged me to see mentioning all the other complica- month old gets cancer? Where someone and so we did. In fact tions such as Wilms tumor, genital the hell is the sense in that? “Look we saw two doctors within the first urinary problem, and mental retar- at her she is happy and healthy” few days of her life and all was dation. Did I hear him correctly? is what I told the radiologist. I “normal”. Grace’s eyes were My daughter could have cancer could not accept those words. swollen shut at birth so we didn’t and be mentally impaired? Walls MRI later that day confirmed think anything of the fact that she were closing in. WAGR syndrome. Grace had Wilms tumor. Just five did not open her eyes and when Never heard of it in all my studies, months ago her ultrasound was she finally did three days later, she and certainly had never been clear, and within that time this wouldn’t keep them open for very exposed to someone with it. I left tumor had taken up one-third of long. I attributed it to the fact that there feeling worse than ever, and her kidney right in the center. she was head down and flexed for was told we needed a full body CT Tailspin is putting it mildly as the so long that her frontal bones were scan. Once at home with the next two weeks were a blur of swollen. Me being a chiropractor, power of the internet, we re- meeting oncologist, surgeon, dr. I was checking and adjusting my searched WAGR and everything after dr. etc… Grace had her right child and doing cranial work on about all the issues surrounding it. kidney removed two weeks after her. She was ok. That’s what I Our wonderful Dr. Baker had the kept telling myself, when in all kindness in his heart to call us that reality my instincts were telling me night at home to see how we were Forward newsletter different. I cried for 7 weeks doing and if we had any questions. everyday in the shower so no one Holy @#$% we had questions. submissions, stories, could hear me begging God that pictures or ideas to: there was nothing wrong with my A CT scan later which was another perfect baby. experience for the inexperienced, and getting involved with the VI Annie Prusakiewicz The day came when my perfect support in our area and we were P.O. Box 392 world came to a crashing halt. I back to our perfect life. Routine Allen Park, MI 48101 was at my chiropractor’s office and ultrasounds, eye patches, home we were working on Grace when visits for VI support, eye exams E-mail: [email protected]

Winning Attitudes, Great Rewards 3 diagnosis and then followed with blessed that God gave me Grace five years old to 18 years. Her dad chemo. and have always said that she has even had to create leagues at would teach me more than I will some military bases in order for Grace’s second birthday will be the ever teach her. I found the WAGR her to play. If you have never seen most memorable, as I was so network again at the time I needed this league, I highly recommend grateful she made it to her second because I was ready to accept and you check it out, it is amazing! birthday and it happens to fall on not deny. So thank you to all the the other most memorable time in families we met at our very first When Sarah was born there was our lives. 9/11. Not sure what to WAGR weekend and all your sup- no name for her condition such as make of it, but hard to mourn for port. WAGR, so my husband and I others when I’m celebrating literally struggled to find answers on our my daughter’s life. Whew! Two Grace is an amazing young lady own. Luckily the military has years of trials and tribulations. My who loves music, takes dance programs and wonderful health daughter has aniridia and is a classes, is in brownies, swims, and care that have provided for her. It cancer survivor. Never would I sings in choir. She annoys her two is an interesting story of my imagine she was a WAGR child. brothers to no end but can warm discovery of WAGR and the group. She still wasn’t like those stories I your heart just upon meeting her. About four years ago, I took Sarah read and then decided they were She is healthy and happy and I to a routine doctor appointment at too sad for me, and quit reading have my perfect world! our base clinic. Sarah was still in them. We lost touch with the high school and was learning how WAGR group and focused on Jennifer Westcott to use a cane. We spotted Grace’s VI issues. (Denial?) another mother with a daughter Hmmm……… ow do I explain our special girl? about Sarah’s age also using a H cane leaving the clinic. We spoke Sarah Hanson was born into a Grace started preschool in the VI hellos and Sarah and I went in for class and remained there for 3 Military family in San Antonio, Texas her appointment. A couple of years. She developed well and three days before Christmas in minutes later the lady came back loved school and was ready for 1987. She has an older brother by into the clinic and introduced kindergarten. All routine ultra- two years and a sister four years herself and her daughter and gave sounds came back negative and older. Sarah was always a happy me her card. This nice lady said if my perfect world was back! Grace little girl growing up, except for the I ever wanted someone to talk to was being mainstreamed with VI occasional temper tantrum. She feel free to call. I put the card in support, mobility support, speech has 11p- chromosome deletion with my purse and went in to the and language support, but she was glaucoma and anirida and mild MR. appointment with Sarah. After the She has had cataracts removed appointment was over, I noticed going into a “normal” class. My from both her eyes; the first at four daughter was not WAGR! the doctor had written WAGR months and the second just a syndrome on her form. This was (Denial?) couple of years ago. Oh, and she the first I had ever heard of WAGR After first grade and a bazillion has the most gorgeous red hair! and had always been told she had IEP's we saw Grace was really 11p- and aniridia. When I got Being a military brat, Sarah has home that afternoon, I looked at struggling and was not compre- moved with her family seven times. hending like the kids her age. It’s the card in my purse and it said because she’s visually impaired She has lived in Florida, Virginia, Kelly Trout, president WAGR syn- right? Ha Ha. My reality finally Alabama, New Jersey, California, drome association. You could came to the forefront of my brain Germany and currently back in San have knocked me over with a when I had to accept that my Antonio. In Virginia we discovered feather!! Anyway, it has turned daughter was different. She wasn’t Challenger Baseball and Sarah got into a life changing event for all of just visually impaired. She has hooked right away. She played on us to finally have someone to call WAGR. Oh my gosh, I finally said challenger leagues every year from with questions, someone who ac- it! My daughter is like the stories I tually knows what we are going read. I just didn’t know it because through, as I am sure you all know. I denied, and refused to see it. No one knows what WAGR is. Even at So, over the 21 years we have her school I have to educate struggled with the medical issues everyone involved in helping of WAGR and also anxiety, some Grace. I am happy to report that obsessive behavior, temper tan- Grace is in a center’s program at trums, depression, weight prob- her school and doing fabulous! lems, nail biting, painful periods She loves school and everything etc. Medication has been a great she gets out of it. We met up with help in these areas and Sarah has the WAGR group last year at become a more self-confident WAGR weekend and I felt at home. out-going person most recently. My daughter fit in with all of the She dreams big and never lets her kids we met. She is like them, and handicap dampen her drive to be you know what she is perfect just normal and to do the things that the same as they are. I am her older siblings have done. She

Winning Attitudes, Great Rewards 4 dreams of owning a red van one Sarah goes to the gym with her mom and she didn't have a very good day. She will spend hours doing three to four times a week and ran experience. The other, Joel, broke all artwork in her room; projects like her first 5K race this past January. the rules of the group home. For coloring little squares into amazing Her sister even spotlighted her and breaking the rules he got kicked out designs. Her brother and sister WAGR on her blog, two times. If you as the client are able have some of her work framed on http://honeyandquilts.blogspot.com, to live on your own, then you may be their walls. (under Blog Archive January). We too independent for a group home. In plan to run another race in May, this my case, I think of it as a stepping We have struggled with Sarah’s time with her dog and the race stone toward living on my own, so I weight problems since she was proceeds will go to the local animal am having a good experience so far. about ten years old. At a routine shelter. appointment, about four years This leads us to fact four, behavior ago, the doctor told me that her One thing is for sure: Sarah has issues. Sometimes there are staff body mass index (BMI) was over taught me to be a better person and members who think that when a client 30. It was a wake up call for me. to really put things into perspective. is having an attitude problem they are This was borderline obesity and I We have had many difficult times having behavior issues. That may not knew I had to do something. Her and I am sure there will be more to always be the case. The client just weight problems were solved by come, but we have certainly had might be upset about something, or lots of walking and also joining wonderful fun times with this special just needs to take a chill pill. Did I Weight Watchers. She lost 32 girl with the funny sense of humor. mention communication is the key pounds total and is now at a We hope to meet everyone at a here? healthy BMI. It was a very difficult WAGR weekend one day. first year, but once the weight "C3" Day another HUGE Success came off it was much easier to Catherine Hanson, daughter Sarah, in Riverview, MI maintain and control the food WAGR, age 21. cravings. She eats much healthier now and we did it as a family One Friday every month is desig- Group Homes nated Casual Clothes for a Cause which I think was the defining By Carol Larson factor for success. Day (C3 Day) in the Riverview Community School District. Staff She completed 12 years of public When talking about Group Homes one members pay at least $5 to "dress school, special education and needs to remember the Four Facts. down" or wear jeans on this day. many, many IEPs, along with Money raised is donated to prese- several years of job training in the One, a group home is not a State lected charities. school system, all with great Institution, the kind of place where you success. She is currently working have no freedom. In a group home, you The generous staff in the Riverview part time at the local department have tons of freedom. In a group home Community School District raised store on base. She is well liked by you can talk to the staff about what you over $750 dollars for the IWSA in her coworkers and is very happy need or what you want and they will October and $2,400 to date. to have the job and responsibili- listen and take care of it for you. ties. Way to go "Pirates" Two, in a group home it's a partnership Thank you again for your Sarah has a puppy who is a great between the staff and the clients (the generosity & support! friend and companion. Her name person with a disability). It’s a is Libby and Sarah walks and partnership in which the staff and the plays with her everyday, not to clients talk about stuff that they need or mention feeding her too. want to do. Communication is definitely the key. Tax Deductible Three, the experience is what you make IWSA Officers & Board it. For example I have two friends who Donation Members: lived in a group home and didn't have a good experience. One of them, Susan, President - Catherine Luis thought she was able to live on her own, The IWSA is a 501(C)(3) Vice President - Tammie Hefty charitable organization. Secretary - Julie Dell We rely on Treasurer - Jeffrey Hefty contributions from

Board Chairperson - private and public Annie Prusakiewicz sponsors. Member - Tom Cox Please consider Member - Shari Krantz donating today.

Winning Attitudes, Great Rewards 5 informational sheets for your child. we will send it to you as well as We ask that your child’s doctors discuss it in detail with you over the send us copies of any past medical phone. records (we pay for all shipping costs). We also request a compre- After receiving feedback from fami- hensive medical history, which lies who have completed Phase II involves completing a form by at the NIH, we have learned that writing, typing, or speaking on the completing all the scheduled tests phone with us. can be difficult and we wanted to reassure families that lightening the Phase I is an outpatient study, schedule by eliminating some tests, consisting of a fasting blood draw, prolonging their stay at the NIH to collection of medical records and a spread out the tests, or splitting the complete medical history for the testing among multiple visits are all participant. One or both parents options they can choose. may choose to participate by having their blood drawn as well, Since the Phase II study began, we but this is entirely optional. WAGR have had several families complete individuals of any age may enroll in the week-long visit and have ap- Phase I. proximately twenty families en- rolled. We are currently recruiting The Phase II study, launched in for visits during August and Fall November 2008, is entitled “WAGR 2009 as well as Winter 2009/10. Dear WAGR Families, Syndrome and Other 11p We are learning so much from each Contiguous Gene Deletions: visit, and we are very excited to Greetings from the National Clinical Characterization and meet each participating family. Institutes of Health in Bethesda, Correlation with Genotype.” Maryland! The WAGR syndrome Children age six and older and If you are interested in participating studies are going very well, and we adults with WAGR syndrome or a in the Phase I and/or Phase II would like to update you about diagnosed 11p deletion can partici- studies or have other questions what is currently happening. pate. The study involves a one- about NIH research, please feel week visit (arriving Sunday eve- free to contact Kristen or Joan. First, we would like to introduce ning and leaving Saturday) to the ourselves to anyone who is new to NIH in Bethesda, MD during which Kristen Danley (301) 402-6762 our research. Joan Han, MD, participants stay on the NIH cam- [email protected] principal investigator on the WAGR pus. We are also recruiting children Dr. Joan Han (301) 435-7820 syndrome study, is a board- and adults with isolated aniridia to [email protected] certified pediatric endocrinologist. complete a similar visit for the Dr. Han attended college and study. medical school at Harvard Go to NIH, participate in the University. She trained in pediat- During the week, participants will rics at Boston Children’s Hospital research, and you’ll be very happy receive a comprehensive evalua- that you chose to do so. It just may and in pediatric at tion of a variety of symptoms Nemours Children’s Clinic in be the greatest decision you could associated with WAGR syndrome. make for your child with WAGR Jacksonville, Florida and at the The evaluation includes: NIH. Kristen Danley, BS, is a syndrome. Your hosts, Dr. Joan Han and Kristen Danley, will make research assistant working with Dr. k testing of how much energy Han as coordinator of the WAGR certain that you are heard, so bring they use your questions. They will spend syndrome study. She graduated k testing of how they process from Bucknell University with a the entire week finding answers for glucose you. biology degree. k evaluation of hearing and vi- sion The current WAGR Syndrome re- Bryan and I set off for NIH on k evaluation of behavior and Sunday, November 30th, after a search we are conducting at the motor skills National Institutes of Health con- hectic Thanksgiving Holiday. I k kidney screening wasn’t well prepared, and didn’t sists of Phase I and Phase II k head and body imaging studies. Both are recruiting partici- know what to expect, but I had a lot k dental and facial measure- of questions. I felt that this was a pants and are designed to study ments how genotypes (the specific genes great opportunity to get some k testing of sensation thresholds answers. I was also glad that I had deleted) are associated with phe- k measurements of body compo- notypes (the clinical symptoms my GPS, because the Sunday sition (fat mass and non-fat traffic was heavy in and around present) for each individual with mass) WAGR. For both phases, we re- Bethesda. We arrived at 3:00 p.m., got out of the car, showed our IDs, quest that you complete the vari- If you would like to review the full ous consent forms and and received our badges. The list of tests, please contact us and security was very impressive.

Winning Attitudes, Great Rewards 6 They checked everything in my car long days of tests. The Inn is may have tasted like. He couldn’t and then continued to direct us to located just across the street but do the smell test, however, be- The Children’s Inn. below the NIH. We took the cause it was a “scratch & sniff” shuttle once or twice, but I found it type procedure. Kristen scratched Due to the fact that it was Sunday, easier and somewhat more con- a paper and held it up for Bryan to the parking was quite easy, how- venient to walk. Thankfully, I had smell. He kept responding, “pa- ever, later on in the week the brought Bryan’s wheel- per!” I still don’t know if he can parking can become somewhat chair/stroller, because I would not smell anything. more difficult. I never used my car have been able to walk with him If you have any specific areas of while at NIH so parking was not an without it. It was cold and it would concern, talk to Dr. Han before you issue for me. Once we were at the have taken Bryan much too long to go to NIH. I wanted an MRI of Inn, we were welcomed and walk along the pathways. If you Bryan’s brain and a thorough scan shown to our room, and then their go when the weather is nice, I of his . She accommo- very friendly staff gave us a tour. would recommend that you walk. dated me and even sent the Bryan and I were given our own reports directly to Bryan’s urologist keys and he was then shown to Shortly after we arrived, we went at Johns Hopkins. his own personal mailbox, where to the hospital to register. You he received something special must do this on Sunday because By the time Saturday rolled every day! At the end of each day you have to be ready for “work” around, we were ready to return he asked if it was time to “check early Monday morning. We then home. I was disappointed be- my mail!” What a great idea! We took a peek at the pediatric ward cause the coffee shop wasn’t open had a room right next to the where Bryan would be spending on Saturday, but we plugged along “Tree-house Playroom”, which most of time, including two nights and managed to get through the soon became Bryan’s favorite of our stay. I stayed with him at his day despite my lack of caffeine. place to be. There was a pretend bedside on those occasions and it Bryan reluctantly turned in his mail kitchen and he made me “tea” was very comfortable. The pediat- key after emptying his mailbox, every night before bedtime. The ric ward has a play/craft room that and I came home with a stack of room we stayed in was absolutely Bryan absolutely loved! The reports, with several still pending. immaculate. I was very pleased Initially, I was confused with all of with the TV, which allowed me to the information, but when I got catch up on the news and relax home and began to really delve without having to go out into a into it, I was in awe of what we had “community room.” Bryan has accomplished. We found out that medicine he needs to take, and Bryan probably does NOT have they provided us with labels and a Autism, but rather an Auditory key to the special refrigerator Processing Disorder (APD). I had where that could be kept safe. never heard of that condition This was also needed later when before, and once it was explained we had to do our 48-hour urine to me I realized that so much of it collection. fit! Much of Bryan’s behaviors and mannerisms now finally made The inn itself is incredible! It’s very sense. I was surprisingly relieved. cozy, the fireplace is inviting, and the large screen TVs are in cozy hospital itself has a cafeteria, but I I carry that stack of reports to nooks where you could snuggle up only went there once. I personally every doctor Bryan ever needs to on a couch and watch a movie preferred the gourmet coffee shop see. I cannot emphasize how with your family if you chose to do in the lobby, which opened at 7:00 valuable all of this information has so. The kitchens were large and a.m. Monday thru Friday. They been and continues to be for all of the pantries had some staple served sandwiches, salads and an us. I am forever grateful for the items. You need to make or array of tempting snacks. time, patience, and especially the provide your own meals. The way wonderful opportunity given to us our schedule worked, I found it Bryan was amazing. I have to by Dr. Han and everyone at the easier to eat at the hospital. We admit that I had my doubts about NIH. We look forward to seeing never prepared a meal. One night, both their expectations of him and everyone at WAGR Weekend in a volunteer group did come in and the amount of cooperation that July. cooked a meal for everyone. The would be needed to participate in Patty Desmond other nights we ate at the hospital many of the tests. To my surprise, and just had a snack at the Inn. however, he did everything that There is a vending machine if you they asked! Some of the tests want candy or chips. I also were too difficult because of his We joined up with the WAGR brought my cooler stocked with age and limited understanding, but group over nine years ago. It was Bryan’s favorite drinks and he always tried. The taste test wonderful to have information snacks. was absolutely hilarious. Bryan that, despite our searching, had ate everything and said everything never been available to us before. We were tired every night after the was “great”, regardless of what it Immediately we were welcomed

Winning Attitudes, Great Rewards 7 into a family of friends. Never did I WAGR Weekend 2009 imagine this group would have leaders that could give such time and persis- Gaithersburg, Maryland tence towards getting the medical world July 10-12, 2009 to realize the urgency of helping our WAGR children. I can never thank them SpringHill Suites by enough for their dedication! That is why there was no question as to whether we Marriott would take part in the NIH study. I Event Name: WAGR WEEKEND believe that this study is the answer to (301) 987-0900 or many of our prayers. It has already been (888) 287-9400 a blessing to us. and understanding for certain Group rate $94.00 per night Wes is thirteen and although he had not conditions. It was a relief to know limited rooms available on a had Wilms’, he has AGR, as well as no we could do more for Wes. first come first serve basis lenses (infantile cataracts removed by four months old). I won’t go into his I have listened and watched as before June 19, 2009 story as I have written a couple of families have and are going stories already. What I would like to say through such unbearable situa- Gatherings will be held in is about our experience at NIH. It was tions. Always knowing that life Bohrer Park Activity Center intense in that there was a schedule of has been pretty easy for us by (air conditioned facility) tests that filled each day from early comparison but knowing that at morning until 5 PM or so. Dr. Han and any time we could be facing 508 S Frederick Ave Kristen are wonderful as well as the harder hurdles. I always knew of Gaithersburg, MD 20877 nurses and other people that worked the possibility of FSGS and that (301) 258-6420 with Wes. They explain everything and Wes could get glaucoma and go answer any and all questions. When we blind at some point but those stay Park Activities got tired of the “heading to another as possibilities not probabilities. I test” or “sitting for hours waiting for him am very hopeful, that through the Playground, Water park, to come out of one” we could not research study, Wes’s life will be Miniature Golf, Skate Park complain. We were in such awe over so much better as will all the how Wes handled it all! He was WAGR kids. How very blessed we Tentative Itinerary: unbelievably patient, good natured and have been to see this happen in agreeable through all of the constant our children’s lives! It is called a tests, questioning and prodding. It was research study but the truth is we Friday Night as if we had all been given extra get immediate help for our chil- Meet & Greet patience to see it through. dren just by getting the results of Mom's night out all their tests-tests that might not Already we have been given a wealth of have been done otherwise. The Saturday - NIH/NICHD information. Some things are very results of the research will be the concrete such as protein in his urine bonus that will be there for all Research Update from Dr. (and we had been testing!) to why he children, present and future. Joan Han & Kristen Danley can’t seem to close his mouth when he Lunch - Catered eats. Some findings had specific recom- Grandma Bev Schmer Dinner - Catered pizza party, mendations and others gave us insight Dad's night out Free time - Playground, Water WAGR Syndrome is a very rare disorder. Physicians are generally not park, Miniature Golf, Skate familiar with this condition, or with the features and complications of it. Park People with WAGR syndrome benefit greatly when family caregivers, medical professionals, teachers and therapists learn as much as possible about the disorder, and become active partners in their care. "WAGR" is an Sunday - Morning tour of the acronym. The letters stand for the most common features of this disorder. NIH Details and RSVP at the web- W-Wilms' tumor site A-Aniridia http://www.wagr.org/wagrweekends. html G-Genital and/or urinary tract abnormalities R-mental retardation/developmental disabilities WAGR Weekend Family Financial Assistance Scholarships are avail- People with WAGR Syndrome have many things in common, but they are able. For more information also individuals. It is important to remember that a given individual with please contact Tammie Hefty at WAGR syndrome may or may not have or develop the same conditions. [email protected] or (608) 347-6356

Winning Attitudes, Great Rewards 8 Nephrology 101, What every parent MUST know

Dr. Jeffrey Kopp is a Staff Clinician at the National Institutes of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD. His research interest lies in the syndrome of focal segmental glomerulosclerosis (FSGS). Each kidney has about 1 million glom- eruli each of which is a cluster of blood capillaries; these glomeruli filter small molecules including toxins from the blood. FSGS is a set of diseases in which scarring (sclerosis) affects the glomeruli and does so in a manner that at the onset of disease affects parts Figure. The left panel shows a schematic of a glomerulus. Blood enters the (segments) of some glomeruli (focal glomerulus via the afferent arteriole (AA), flows through the open capillary loops distribution) while other glomeruli in the center of the glomerulus, and flows out via the efferent arteriole (EA). Fluid, remain normal. FSGS has many but not blood cells or proteins, passes through the glomerular sieve and into the causes, including genetic, viral (most proximal tubule, much like water passing through a colander as vegetables are notably HIV), and obesity, but most washed in the sink. The fluid, after passing through the tubule, will eventually cases are at present labeled idio- become urine. The podocytes (PO) are cells that participate in maintaining the pathic, meaning the cause is un- glomerular barrier and that are damaged in focal segmental glomerulosclerosis. known. (Used with permission, from Johnson and Feehally, Comprehensive Clinical Nephrology, Second Edition, Mosby 2000). The right panel shows a glomerulus 1. Do all individuals with WAGR from a patient with focal segmental glomerulosclerosis. There is an area of scarring syndrome need to be screened for (sclerosis), the red portion at the upper left glomerular segment, while the remainder ? of the glomerulus shows open capillary loops where blood circulates. Photograph courtesy of Dr. James Balow, NIDDK, NIH. Yes. We recommend that all individuals with WAGR syndrome have FSGS. As noted above • Third, WAGR patients who have have regular screening to detect FSGS is a syndrome and WAGR had a Wilms tumor will have just kidney disease. patients may have several factors one remaining kidney, and that that promote this kind of kidney kidney then is called upon to do 2. My child never had Wilms scarring. the work of two kidneys - again, tumor -- does he/she need to be this represents stress to the kid- screened for kidney disease? • First, the WT1 gene is critical for ney. By itself it is unlikely to be normal function of the podocyte problem (remember that people Yes. Even if your child never had (meaning “foot cell”), which is a can donate one kidney safely to Wilms tumor, your child is still at risk glomerular cell type. WAGR another person) but it can make for developing kidney problems. patients have only one normal other kidney diseases worse. copy of the WT1 gene, located on 3. What percent of individuals the other copy of , • Fourth, if hypertension develops, with WAGR syndrome develop and in many cases this appears this may cause FSGS or may kidney disease? insufficient for the podocyte to accelerate the progressive scar- function normally. ring of FSGS that was initiated by We do not know the exact incidence another factor. as this is something we are still in the • Second, WAGR patients are process of researching. A recently prone to obesity, which puts a • Fifth, WAGR patients who have published case series of 54 patients metabolic stress on the kidneys by had radiation that extended to the with WAGR syndrome reported that compelling the kidneys to over- normal kidney may have radiation 60% of individuals older than age 12 function to cope with the increased damage. years had decreased kidney function body size. An analogy would be or kidney failure (Pediatrics 2005; that a car engine that is driven at WAGR patients who develop dia- 116:984-988). high speed, or high rpms, for a betes are at risk to develop 4. What is the cause of kidney long period of time will last less diabetic kidney disease, which is a disease in WAGR syndrome? long that an engine that is driven different disease from FSGS, but moderately. has in common glomerular scar- When patients with WAGR develop ring (glomerulosclerosis). The kidney disease, they most commonly

Winning Attitudes, Great Rewards 9 best way to prevent diabetic kidney Early kidney disease typically has any questions or concerns. We disease is control of blood glucose to no symptoms, and thus regular request that you obtain a copy of normal levels. laboratory testing is important. the blood pressure readings and lab results from your child’s doctor 5. At what age should the testing 8. How is WAGR kidney disease so that we can better assist you. begin for WAGR kidney disease? treated? 11. My child is enrolled in Phase We recommend that testing for There are three therapies that slow II (inpatient portion) of the NIH kidney problems begin at birth. progression of other scarring kid- WAGR Study, if he/she is diag- During infancy and early childhood, ney diseases, and although they nosed with with hypertension, individuals with WAGR syndrome have not been studied specifically proteinuria or both can we are at high risk for developing Wilms in WAGR patients, these therapies contact you for recommenda- tumor. During late childhood and are likely to be effective. tions? early adolescence, the risk for kid- ney disease increases. Therefore, • First, control of blood pressure to Yes. Please contact the WAGR lifelong monitoring is recommended. the age-appropriate normal level. syndrome Research Study Coordinator (301-402-6762, 6. What tests can be done to • Second, use particular blood [email protected]) with detect early kidney disease? pressure medicines, termed ACE any questions or concerns. We inhibitors and ARBs (angiotension request that you obtain a copy of For Wilms tumor screening, children receptor blockers). These medica- the blood pressure readings and should undergo every-three-month tions have three beneficial effects: lab results from your child’s doctor kidney ultrasound and urinalysis lower systemic blood pressure, so that we can better assist you. from birth to age 5 years, and then lower blood pressure within the the same tests every 6 months for glomerulus, and prevent or slow the remainder of childhood. the process of glomerular scarring (glomerular sclerosis) by turning of For FSGS screening, children signaling molecules that regulate should have annual measurement of production of collagen (the major blood pressure and measurement of scar protein). urine protein. We are not sure at what age this annual testing should • Third, limit dietary sodium (salt) begin, whether it should be age 5 or intake, as this lowers blood pres- 10 years or some other age. sure and also increases the effec- tiveness of ACE inhibitors and There are three ways to measure ARBs to reduce kidney scarring. urine protein: 9. Is the recommended treat- • Dipstick test, done as part of a ment different for individuals Moving? routine urinalysis - this can be useful with WAGR syndrome compared but is not very sensitive (in other to other people with kidney words, it can miss small amounts of failure? If so, why? Don't miss out on future issues protein in the urine that can still be a sign of kidney disease). Treatment of progressive disease of WINGS. Please send us your due to WAGR is similar treatment new address. • Measurement of the urine pro- of progressive kidney disease of tein/creatinine ratio, which is more other causes. When the kidneys sensitive and can detect early kidney fail, the options are chronic dialysis Email our IWSA Secretary, disease. (either hemodialysis or peritoneal dialysis) or kidney transplant - and Julie Dell • Measurement of the urine albu- kidney transplant is the preferred [email protected] min/creatinine ratio (albumin is treatment. plasma protein). This is a standard test to detect early diabetic kidney 10. My child is enrolled in Phase disease, but its role in other kidney I (outpatient portion) of the NIH Education Questions? disease is less certain. The NIH WAGR Study, if he/she is diag- Families & Professionals studies will examine whether detec- nosed with hypertension, prote- please Contact: tion of microalbuminuria (small inuria or both can we contact amounts of albumin) is a useful test you for recommendations? Rhonda Sena, M.Ed to detect early kidney disease. Educational Consultant Yes. Please contact the WAGR Syndrome Research Study [email protected] 7. What are the early signs and Coordinator (301-402-6762, symptoms of kidney disease? [email protected]) with

Winning Attitudes, Great Rewards 10 Behavior Disorders: Making sure the diagnosis is accurate Here again, learning about the disor- is also critical. On the surface, der yourself can alert you to what Coping with explosive or challenging behaviors may look simi- type of therapy might help and where aggressive behaviors lar in children with ADD/ADHD, you might find it. Kelly Trout, RN, BSN autism, anxiety, and obsessive- Rhonda Sena, M.Ed compulsive disorder. But effective If your child is school age, his treatment can be quite different for behavior disorder will very likely Some individuals with WAGR syn- each. In fact, sometimes what works impact his education. A Functional drome have behavior disorders, such for one disorder can make another Behavior Assessment (FBA) will help as autism, autism spectrum disorder disorder worse. you and the IEP team develop (ASD), attention deficit hyperactivity interventions to address problem be- disorder (ADD/ADHD), anxiety dis- Keep in mind that accurate diagnosis haviors at school. Talk with the order, and/or obsessive-compulsive is often a process of elimination. This school and his teacher about includ- disorder (OCD). These conditions can be very frustrating, but it’s more ing this assessment as part of his next can cause big challenges for a person than worth the time and effort. You IEP review or request it immediately and his family. Some of the most can facilitate the process by educating if behavior is escalating. Behavior difficult of these challenges are yourself about the signs and symp- interventions that are specific to his tantrums, “rages,” meltdowns, and toms of behavioral and psychiatric diagnosis need to be included in his destructive or aggressive behavior. In disorders. Certain other conditions education plan. a series of articles, we’d like to offer associated with WAGR syndrome, some suggestions for dealing with such as Sensory Integration Disorder Finally, many national, regional and these behaviors. and Central Auditory Processing local support groups sponsor behavior Disorder (CAPD) can also result in seminars and training specifically for The All-important First behavior problems. The more you parents. These seminars and training know about these conditions, the sessions can be tremendously practi- Step: Diagnosis more you can help your child's doctor cal and helpful. Disability organiza- or therapist pinpoint the problem. For tions, autism support groups, and It’s hard to fix a problem if you don’t more information, check out the mental health groups are great re- really know what’s causing it. So it’s Behavior page at http://www.wagr.org sources. Call and ask what they may critical to make sure you have a have available for parents in your diagnosis first. Don’t be tempted to area. skip this step, hoping that your child’s Diagnostic Evaluation explosive outbursts will stop, lessen, or will just go away on their own. The best method of evaluating a child Remember The Truth Like most conditions, these behaviors for behavioral or psychiatric disorders respond best when they are recog- involves a “multidisciplinary team” It’s incredibly difficult to deal with a nized early and treated appropriately. approach. Such a team may include a child whose behavior is destructive, It’s also common for parents to be psychologist, neurologist, neuropsy- aggressive, embarrassing. Tantrums told that their child’s explosive or chologist, psychiatrist, speech thera- and rages can happen anywhere, aggressive behaviors are simply “the pist or other specialists, as well as the anytime, and can make parents feel way he is,” and that little or nothing parents and teachers or other caregiv- desperate, ashamed, and reluctant to can be done. The truth is, a wide ers. Some universities and regional leave the house or take the child out variety of positive, potentially suc- or teaching medical centers offer team in public. Remember that you and cessful options for treatment exist. evaluations, and your pediatrician your child are not alone. Lots of may be able to refer you to one of WAGR parents share your challenges, It is very hard to be told that your these. When this is not possible, and know just what your life is like. child has a behavior disorder, but if specialists can be consulted sepa- Remember, too, that your child’s you suspect there’s a problem, getting rately, but a “team approach” can still behavior disorder is a condition a diagnosis can open the door to be achieved by insuring that everyone associated with WAGR syndrome, services, solutions, and safety for communicates with each other. and not a reflection on you. It’s your child and for your family. especially tough to remember these Now What? things when strangers (even family members) make rude comments or Once you’ve got a diagnosis, you can criticize your parenting abilities. Health Questions? begin to look for the information, Hold the truth close, gain strength Families & Physicians please professionals, and programs that can from your fellow parents, and take help. pride in the progress that you and Contact: your child are making. Kelly Trout RN, BSN Behavioral therapy is available for IWSA Health Consultant & some conditions, in some communi- Upcoming articles: Liaison to our Medical ties, and your child’s psychiatrist or Advisory Board. Patterns and Triggers, psychologist may refer you to such a Behavior Modification [email protected] program. On the other hand, you may have to find this kind of help yourself. Therapy, Medications

Winning Attitudes, Great Rewards 11 The IWSA serves families all over the world in countries, including: Australia, Bavaria, Belgium, Brazil, Canada, Croatia, England, France, Germany, Greece, Ireland, Israel, Italy, Kosovo, New Zealand, Peru, Philippines, Poland, Portugal, Puerto Rico, Romania, Saudi Arabia, Scotland, South Africa, Switzerland, Tanzania, Turkey and The United States of America

You can support the IWSA in many ways. Financial donations both large International WAGR Syndrome Association and small are always welcome. The IWSA is a 501(c)(3) corporation, so all YES Enclosed is my gift donations are tax deductible. ( ) $25 ( ) $50 ( ) $100 ( ) $_____ Spread the IWSA mission to your family and friends and ask for their support. It is a proven fact that the Your Name:______number one reason that people do not Street Address/P.O. Box: ______donate to a specific organization is because they were never asked. City:______State/Province: ______Friends and families are also more Zip Code: ______Country: ______likely to donate to causes directly In Memory of:______related to people they know than to THANK YOU ones they don’t. More than 83% of all On behalf of:______charitable gifts are still given by for your Mail to: IWSA individuals. tax P.O. Box 392 Pay Pal is up and running on the deductible Allen Park, MI 48101 wagr.org website. Pay Pal is a highly donation recognized way of collecting funds and is accepted in more than 190 coun- tries. With this option, it will be easier Giving challenges with your family, co-workers and friends. The Dell family in to make a donation from inside and Pennsylvania challenged their family last spring to a Gorilla Giving challenge outside the United States. in hopes of raising $500 to bring to WAGR Weekend 2008. They were astounded when their efforts raised over $1,800 for our cause. Individuals who have Facebook ac- counts can also create awareness for Thank you for your continued interest and involvement with our organization. the IWSA by searching for WAGR Together with your support we can continue to promote international Syndrome – Deletion 11p. You can knowledge and awareness of WAGR Syndrome and its complications and make donations to our cause via treatments, to stimulate research and to reach out to those affected by WAGR Network for Good (networkfor- Syndrome in an effort to improve their lives. good.org). Simply search causes for WAGR Syndrome and ask your Catherine Luis continuously updates the wagr.org website. So please check Facebook friends to do the same. it periodically for updates and current information. 1800flowers.com has been added and allows you to purchase flowers with a percentage of the sale Other ways to help us fund the donated to the IWSA. organization could include Gorilla International WAGR Syndrome Association PO Box 392 Allen Park, MI 48101

We are now able to Deliver to: accept online donations through Pay Pal. Please visit www.wagr.org and click on the donate button.

Winning Attitudes, Great Rewards 12