We are the Stow Family and this is our story. Our lives are blessed by Love, Joy and Hope. Follow our sometimes interesting stories on loving our two boys, exploring parenthood, and celebrating a little extra - two parents, two boys and an extra chromosome!

Wednesday, April 8, 2009

I am not a medical professional...

...but something is not ok here...

Let me start at the beginning...

At about 3 months old, Malakai was diagnosed with Hypothyroidism (originally I heard Hyperthyroidism, but have since learned that I misunderstood the doctor... great...). Side effects of this condition going untreated include mental retardation and stunted growth (I must be honest, I don’t know any other side effects because those two are enough thanks...). So, Malakai has been on medication since then and every three months I take him for another blood test to see how we’re doing. So far, the medication has kept his thyroid within a ‘normal’ range.

*Fast forward to yesterday

I got home from work and, as usual, I start Malakai’s routine with a bit of playtime, then dinner, then bath, then bottle and sleep time. But during yesterday’s playtime I noticed something odd. It made me go ‘hmmm’. Every now and again he would have a ‘glitch’ in his movement (for want of a better phrase). To describe this, it would be a mixture of a fright/reflex/spasm/seizure. His arms would move involuntarily, his gaze would go distant and his breath would quicken (like when you stick your toe in freezing water). But, this would happen so fast, literally half a second, that I would blink and wonder – ‘did I see something?’.
So I watched... and I watched... and I counted at least 30 of these ‘episodes’. But I only noticed them when I was stimulating and playing with Malakai on his back.

After an hour I decided to call the Pead-on-call at our local hospital and she called us to the hospital immediately. When we arrived and were booked in, the Pead eventually arrived (by this time Malakai was so tired!) and I tried to show her what I was seeing. Her response was ‘this looks normal’ and ‘he’s just excited’. But my husband saw what I saw and I told her that this had never happened before, this was new... I was worried. She brushed off my concerns and then agreed to organize an EEG when she realised he had (and I quote) ‘abnormal chromosomes’. Like an elastic snapping, I retorted ‘no... actually he has 46 perfectly normal chromosomes... and only one extra’.

I slept next to Malakai all night, in a very uncomfortable and squeaky chair – receiving comments from nurses about Malakai’s ‘convulsions’ (please note that they actually made the ‘’ with their fingers, as if I needed some extra sign language in order to understand their lack of belief in my convictions). ‘O.K.’ people!

In the morning we got test results from blood drawn from Malakai last night. His TSH levels had increased from 1 – 8 in two months (since his last test). In layman’s terms, TSH is produced by the thyroid. The higher the level of TSH, the lower the thyroid function. Normal functioning is between roughly 1 and 5. Kai’s has increased 8-fold in two months! When I asked the Pead why, I got a –mumbly-jumbly answer about ‘growing boy’... I’m just not buying it. When I asked if this thyroid dysfunction could cause the seizures I was told ‘no’.

Even though the Peadiatric Neurologist thought my description of Malakai’s movements sounded like a thing called Myoclonic Seizures, Malakai’s EEG came back normal. The Pead was only too happy to send me packing with a ‘told you so’ attitude masked in a ‘conversation’ with my son about how his mommy needs to take him home because there’s nothing wrong with him. Can anyone spell P.A.T.R.O.N.I.S.I.N.G.?

I felt really silly, questioned my instincts as a mother. Thank God Darryl also saw what I was seeing, otherwise I think I would have lost it!

So, after sleeping like the dead for 2 hours (did I mention the squeaky chair?) I got up and started my online search for answers.

Let’s remember first though that I was told
1. Malakai’s movements looked normal
2. A normal EEG means there is nothing wrong
3. His Thyroid is not linked to the seizures (imaginary or not)

After about 5 minutes online I found the following information:
1. Visuals on YouTube showed me other babies with Myoclonic Seizures make the same movements as Malakai did.
2. Both DS-Health Online and Epilepsy Ontario agree that in people with Down Syndrome, a normal EEG does NOT rule out Epilepsy.
3. Down Syndrome-Epilepsy Foundation has done studies that definitely link Thyroid Dysfunction and Myoclonic Seizures. In fact, Myoclonic Seizures are made worse by lack of calcium in your body and the Thyroid controls calcium-absorption... pretty darn linked if you ask me!

So, after playing 0-0-Mom, I have a better understanding of what could possibly be going on. The dramatic increase in Malakai’s TSH (and hence drop in thyroid function) may have lead to a decreased ability to retain calcium thereby opening the pathway to the development of myoclonic seizures. Add to this that babies with Down Syndrome have a 40% more chance of developing seizures, and the fact that I had epilepsy as a child, and hey presto! I am not losing it.

Tonight, the seizures continued – and this time they lasted a little longer (or were linked together?). There is something wrong with Malakai and I have two ‘medical professionals’ who have given me the incorrect information and questioned my instincts as a mother. That really makes my blood start to boil. Do they not realise (just by looking in my general direction) that they cannot fob me off with un-educated opinions? I will find out and I will call them on it!

OK people – I am tired. It has been a really really long day... I have had to sit around waiting for doctors to use little ‘’ when they speak to me, I have had to fight for my son and for what I know I saw, and I have had to do this all after a night in a squeaky chair...

I am on a mission here to help my son. This is not something I want to see escalate. Please send my little boy a silent prayer, a positive thought, light a candle, blow a kiss, send us some love – please.


Ruby's Mom said...

I'm praying for your little guy and praying that you can get a doctor who will see what you are seeing.

My name is Sarah said...

Loren, This is Joyce. I pray for your strength as a mom and advocate.

During the first six months of Sarah's life I took her to four different pediatric doctors because I just knew something was wrong. The first one told me to get therapy because of the Ds, the second told me Sarah was running a low grade fever because she was in daycare and the third one told me to let myself grieve for the daughter I did not get. Finally the fourth one listened to her heart and heard a significant murmur. They rushed her to the Cleveland Clinic and discovered she was completely missing the wall between her ventricles. Lung damage had already been done and I shudder to think if I hadn't kept searching for answers what would have happened.

Moms always know best. Listen to your heart and try not to let them get the best of you. During my frustration at the time a friend once said to me,"Remember even in medical school there has to be a bottom third in the class." If you don't like what you hear keep looking for someone who listens without judgement.

Laurie said...

Oh, Loren. I agree with Joyce - go with your instincts on this, for sure. Moms know best and it sounds as if you know exactly what's going on...
Please kup. I'll be thinking of you guys!

Jocelyn said...

Loren, I am so sorry to hear this. It sends a sinking feeling in my gut to imagine what you are dealing with. I agree with the others, you know Malakai best and it sounds like you are doing a great job as his advocate. Hang in there.

Anonymous said...

My dear friend,

I am sooo proud of you for sticking with your guts and really not just listening to what the "doctors" said. You guys are in our thoughts, prayers and we know you guys will find the rights answers and hopefully the right doctor to treat this and help Malakai to be healthy and strong again.

Hope you have a BLESSED Easter weekend.

Lots of love

Coreen & Grant

Conrad, Megan and Our Precious Keaton said...

Hey little guy, you have been on my mind and in my heart every since your mommy told me about your seizures starting! Your mommy loves you so very much and she is testament to a perfect earth mother! You choose very well!
Loren - my friend - Go with your heart at all times... There are so many books, so many textbooks, so many websites, so many opinions, but at the end of the day a mommys heart and instinct knows best! Please challenge the doctors on your findings or have a second and third opinion done so that if their is something that they will pick it up soon! My Gran had the same problem with her thyroid about 2 years ago, they could not understand why her bone density was so low and then they found a benign tumor on her tyroid and discovered that her tyroid was not allowing her to absorb any calcium into her body - BUT with the problem fixed my Gran was as good as new afterwards! Amazing thing your thyroid! Anyway my friend sending Malakai and Darryl and YOU a huge big hug and please know that prayers are being said and we will light a candle for him today! Much Love, Megs

Hector and Jennifer Varanini Sanchez said...

TRUST YOUR INSTINCT Loren! Thank God for the internet when things like this happen. You know your child better than anyone! Good luck, watch that gorgeous boy carefully and keep us posted!

Elriza Paul said...

Oh Loren, I'm so sorry you were made to feel so powerless. Just always trust your instincts. Sending you all of our positive thoughts!
Elriza, Wes & Caden

Megan said...

Loren - check out the vid. of Stella (on my blog - link: http://audreysplayground.blogspot.com/2009/01/video-of-episodes.html). Does this look like what Kai is doing? Admittedly, the vid. is a bad representation. If it does, I'll tell you this - we finally got relief from these episodes after S was Dxed with constipation and was put on Miralax. I only give it now as needed, but if we keep her system clear, she never has episodes. I'd say it was about 4 weeks between start of the episodes to Dx to eradication of episodes. Email me if you want to chat more!

Sharon said...

Definitely trust your mom-instinct. You know your son better than anyone. Maybe videotape Malakai having these movements/glitches so you can show them to the doctors. And if you have a local Ds group, ask for recommendations for doctors that have experience with kids with Down syndrome. I will be thinking of you and your little man and hoping you find answers and good doctors.

Anonymous said...

Dearest Loren, Darryl and precious and beautiful Malakai,

Know that special prayers were prayed for you all earlier this evening during very special mass during which the Last Supper was re-enacted.

ALWAYS TRUST YOUR MATERNAL INSTINCTS, LOREN .........hold this mantra close to your heart always. I will specifically pray for guidance for you to be led to the RIGHT paediatrician for Malakai. Many of these specialists, do NOT have children of their own and it is my opinion that the "better" ones tend to be those with their own children and the ones who tend to be more compassionate, identify more with you and your concerns as a mother. Equally important is to look for one with EXPERIENCE and specifically, EXPERIENCE IN A SPECIFIC FIELD OF EXPERTISE. The third factor of equal importance is the GOLDEN WORTH OF REFERRAL BY OTHER MOTHERS.
Our special healing candles will be lit for Malakai, Darryl and You over this especially blessed time of Easter during which we celebrate the miracle of His resurrection and His love for us.

God bless you, give you strength, faith, hope and peace and embrace you in His healing, comforting arms.

Lots of love,

Bev Bourne

Nanna to Deqlan and Keaton

About Me said...

Loren, I'm so impressed with your persistence. Caden has hypothyroidism too but I'd never heard the link to the seizures before. He has had dramatic jumps in his TSH numbers as he goes through growth spurts and he could live off yogurt if I allowed it, which I equate to his body's need for more calcium. You know what is right for your son and I hope you can find a doctor willing to help you. I can't believe the pompous attitude you received from people who are supposed to care. Did they increase his Synthroid? Maybe after being on a higher dose, those seizures will go away. You are a strong woman and mother!

therextras said...

My sincere sympathy for dealing with these medical "persons".

Hang in there with your knowledge and instinct.


Tim and Kelli said...

You are doing the right thing and he is lucky to have you fighting for him. Sending thoughts and prayers your way. Try and get some rest and keep us posted.

Sonia said...

Hi Loren,

I left a comment for you a few days ago on Babycenter, so I hope you get some answers soon!

jjpsmommy07 said...

Will keep you and Malakai in my prayers. doctors think that us mothers are idiots at times and I LOVE putting them in their place!!! I hope that you find an answer soon. Hugs to you and your precious boy.

Deqlan said...

Hi Loren, i am so sorry to hear about the rough time you guys have been through and pray that Kai is doign lots lots better. Whats more frustrating then having doctors that are supposed to be helping your son , that question you and dont believe you? I can tell you that YOU know Kai best and you move and you move and you move again until you find the right doctors for Kai - unfortunately there are so many wrong doctors in this world - but i know what it feels like to fight for your son and not take no for an answer until you find the right solution to help your chil. So keep on keeping on - i have heard of a neurologist at the hospital we all go to, i think Elriza also took Caden there - maybe he can help? Dr Lippet. Praying very hard for Kai to be on the mend and sending you lots of love and prayers. God Bless, Samm Mark Deqlan Logan

AngieW said...

Keep up the good work 00 Mom! I can totally relate to your post. My little guy was sick for most of Feb and March and it took numerous trips to the Dr. office where I was told, "it was just a virus or this was normal for a kid with DS". I too have found that you have to keep pressing. You are the best advocate for your child!

Lisa said...

Please update soon. I've been checking back to see how things are going since this post...hoping you're getting some answers and that you are all okay. Hang in there, trust your instincts and stand firm with the "medical professionals".