PKU.com Community Discussion Forum Parent support problem with Doctors

Viewing 15 posts - 1 through 15 (of 17 total)
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  • #8418
    Avatar of Grace
    gracie1605
    Participant

    I have a 5 month old beautiful son with CPKU i am still not really emotionally ok, but some days are better than others. I have an issue It takes lately longer than a week for me to get my sons levels back from the MD or my dietition the past few times I have had to call and it takes them a few days to call me back.. making me very angry frankly. they completely lost one of my values and had to call the lab like 2 week later to get the result…It this not there job to get this info for me and to me asap? Am i asking too much… i know they get his level back on fridays and sometimes on thursday it just puts my mind at ease to have his level back by the weekend and lately like today monday i have called and still no response from last mondays level. I ahve asked if i could get in  touch with the lab and i can't so i think the least they can do it let me know the level..a few times i had been calling them his level was high and i don;t feel they were really ontop of it. Does anyone have any advice (new clinic) or am i expecting too much?>>

    #8419
    Avatar of Katie
    katiemag16
    Participant

    Gracie – you are definitely not asking too much.. It is the doctors responsibility to get you your child's level ASAP esp if you are still trying to juggle with the appropriate intake of food to be consistent with his levels.  My advice would be to find another clinic near you.  If it makes you at all at ease, when I was diagnosed with PKU 24 years ago – the closest (and best reputable) clinic was in Boston, MA which is about 3 and half hours from my house.  Yes, it was time consuming when I was younger and had to go more frequently, but the doctors were the best for me at the time and that was most important!  Try to be easy on yourself.  You will have bad days – my mom often tells me from when I was born, but remember your son can lead a long and healthy life with PKU.  There have been so many medical advances in the past 10 years alone.  In addition, next year there will be a self-monitoring kit coming out (similar to a diabetic kit) and it will allow you to check your son's level as often as you would like with immediate feedback.  In the meantime, I would do some research of other clinics.  Do you mind me asking where you live and what clinic you go to? Hang in there

    #8424
    Avatar of Grace
    gracie1605
    Participant

    Thanks for the support.. my dietition called me back last night…but i still think it is consistetly too long. I love in mass and the one in worcester is like 2 hours from me which is fine…however they never do anything i feel that couldn't be done at my doctors office who has a md who just finished a genetics fellowship…i will stick it out a little longer but any more problems and yea i think i will look into different clinics

    #8427
    Avatar of Katie
    katiemag16
    Participant

    How far are you from the one in Boston?  I have been there all of my life (almost 25 years) and extremely pleased with them.  If 2 hours is suitable for you too, I would consider switching.  It is important for you to feel comfortable with your clinic.

    #8429
    Avatar of Grace
    gracie1605
    Participant

    yea i think boston might take me 2.5 hours i think but not too bad…i am gonna think about it

    #8434
    Avatar of Breanna
    BreaMarie91
    Member

    Hi Gracie,

    Unfortunately things like this do happen. Have you tried to voice your concern to your sons doctor or dietitian? My only advice for now would be to continue contacting your sons doctor or dietitian a few days after his phe level is sent in to check if they have received his level yet. If you are looking for a new clinic you can go to this link macpad.org/page.aspx. If I am correct there are three different clinics in Massachuetts. If you do change clinics though be warned that in some cases clinics do send their blood tests to the same labs.

    Also like Katie said everyone has their good and bad days. I think that's how life in general goes, not just PKU. There are so many factors that can effect phe levels (fevers, teething, growth spurts etc), so at times your sons levels may not be exactly where you would like them. Just keep in mind that doctors are more worried about whether or not the phe levels are high long term. Many (if not all) children, teens, and adults who have PKU have had their share of high phe levels and today so many of us are doing wonderful despite this fact.

    Please let me know if there is anyway I can help you!

    Hey Katie,

    I have a question. The new self-monitoring kit is suppose to come out next year? Last spring I spoke to Elaina Jurecki, and I thought she said this was still in the early stages of development. I could be wrong, which is why I am asking.

    Breanna 18 CPKU

    #8435
    Avatar of Katie
    katiemag16
    Participant

    Brea is absolutely correct – I find when I am sick or even not as active as I usually am (with exercise) that can cause my levels to go up quite a bit!  Over my years with PKU, I have had higher levels (10-12), but they were there usually only a short amount of time… long-term is where it can become a problem!

    Hey Breanna,

    I was at an event a couple weeks ago and someone from Biomarin told me it should be ready in a year… I was pretty surprised myself since I have not seen it advertised… Let's hope it is true :)  However, for everyone who is new at this – it does become easier and you learn what exactly you can and cannot eat pretty quick!

    #8437
    Avatar of Breanna
    BreaMarie91
    Member

    Hey Katie,

    That's exciting to hear! I am going to a PKU Zoo Day sponsored by Biomarin next month, so I will definitely ask them about this. I will let you know if I find anything new about it :).

    #8440
    Avatar of Katie
    katiemag16
    Participant

    Which one are you going to?  I will be in Philly in October at the Philadelphia Zoo – maybe we will see each other :)

    #8441
    Avatar of Breanna
    BreaMarie91
    Member

    We are going to the zoo here in Milwaukee.

    #8442
    Avatar of sailendra
    sailuchakri
    Member

     Himaja  aged 3 years and 6 months has been suffering from a disease called PKU (Phenylketonuria) which blocks the growth of the brain.n

    Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine.

     

    When at the age of 1 year, she was not all behaving like a normal child, we visited our local doctor near our suburbs in INDIA and he suggested that calcium was so low and give calcium related food so that she can attain the growth, the mistake we had was that we had given only the calcium related food which totally blocks all other minerals and proteins and made a thick layer in the brain.

     

    At 18 months, some one had suggested us to go to Madras hospital  which belongs to INDIAN Railways, after 4 months of course of medicines, the doctors suggested us to go to one of the premier institute in India called National Institute of Mental health and Neuro Sciences popularly called as NIMHANS( one of the premier institute in INDIA in R & D).

     

    It is at almost at 23rd month of the child, we visited NIMHANS and we came to know that the brain stops growing at the 24th month. But they insisted that with low protein diet they can get some good results.

     

    Since then we are using low protein diet and there has been a slow and steady improvement we are able to see in the child.

     

    The low protein diet is to control the increasing dose of Phenalyannine, but we are able to control the increasing levels of  Phenalyannine which stands around > 1500 mg( normally to be below 100 mg in a normal child).

     

    This low protein diet should convert the   Phenalyannine into Tyrosine, but in this case it is not at all reducing.

     

    I'm unable to find a good diagnosis for the child….please help me

    #8443
    Avatar of Chad
    slmdcivic02
    Member

    Gracie I feel your frustration!! sometimes we don't get Marley's levels back for  awhile. Her levels have been good so far but we live in Lubbock, TX we drive 5 1/2 hours to our doctor in Dallas and our blood work gets sent to Austin. It just seems like there should be a more efficient way of doing this. But if the self monitoring system comes out we are all over that.  Our dietician is awesome though she has been such a big help for us. I'm sure we could find a doctor here that could possibly help us but I want someone with a proven track record of success and that is what I am getting You should not settle untill you are happy with your sons care.

    #8691
    Avatar of Julie Marie
    PKUKID3
    Member

    I think it is the story everywhere, We dont get our levels back for at LEAST 2-3 weeks. Sometimes to my mischevious bennefit but I know they have to go to the college and they do the lab work there or in Chicago and then have to send it back to Peoria. My clinic is two hours away from where I am and the kids by me only get one thursday every month to go or else we have to drive 3.5 hours up to chicago. It it sucky but I am deeply in depth about the outcoming ;accu-check for pkuers. My boyfriend is a diabetic and I know all about his shots and what not. I had offen wanted an accucheck for myself to check what normal foods did to my system so instead of just looking up how much phe, I could see how they really changed my levels. I think it would have a big affect on pkuers but my stupid doctor doesn't have hope for it. (like he would know, he doesn't even HAVE pku! ! )

    #8697
    Avatar of Grace
    gracie1605
    Participant

    2-3 wks is crazy I get mine backn within a week as the latest I take my son's spot to the nearest hospital so they can overnight then with their newborn screening spots is this am option for you? and same here out clinic is about 2 hours away as well

    #8698
    Avatar of Breanna
    BreaMarie91
    Member

    We usually recieve our phe levels within three business days at the absolute most. If it takes any longer we are suppose to call our clinic to be sure it hasn't been misplaced. We mail our blood tests in by ourselves, and while our clinic is only twenty minutes away the lab that our blood tests get sent to is over two hours away.

Viewing 15 posts - 1 through 15 (of 17 total)
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